Centogene AG - the Rare Disease Company

General information

Centogene AG - the Rare Disease Company

Am Strande 7
CENTOGENE New Headquarter
Rostock
Mecklenburg-Vorpommern
Germany - 18055
https://www.centogene.com/company/contact.html
Organization ID: 279559

Personnel

View this laboratory in GTR

Assertion criteria

Level: Assertion criteria provided

Summary of submissions to ClinVar

Total submissions: 383

Gene

GeneSubmissionsLast Updated
ABCB116Aug 5, 2020
ABCB42Jul 14, 2020
ABCC61Aug 5, 2020
ABCC81Jul 14, 2020
ABCC91Jul 14, 2020
ABHD51Jul 14, 2020
ACADVL1Aug 5, 2020
ACTA21Aug 5, 2020
ACTB1Aug 5, 2020
ADA21Jul 14, 2020
ADAT31Aug 5, 2020
ADGRV11Aug 5, 2020
AGL6Jul 14, 2020
AGXT1Jul 14, 2020
ALDOB2Aug 5, 2020
ALPL1Jul 14, 2020
ALS21Jul 14, 2020
ANK11Jul 14, 2020
ANKH1Aug 5, 2020
ANTXR21Aug 5, 2020
AP5Z11Aug 5, 2020
APC1Aug 5, 2020
ARHGEF91Aug 5, 2020
ARID1B1Aug 5, 2020
ARSA1Aug 5, 2020
ARSB1Aug 5, 2020
ARSL1Aug 5, 2020
ARX1Aug 5, 2020
ASL1Jul 14, 2020
ASPA2Jul 14, 2020
ASS11Aug 5, 2020
ASXL31Aug 5, 2020
ATL11Aug 5, 2020
ATM3Aug 5, 2020
ATP6V0A42Jul 14, 2020
ATP7B4Jul 14, 2020
ATP8B12Jul 14, 2020
ATRIP1Aug 5, 2020
ATRIP-TREX11Aug 5, 2020
BLM1Aug 5, 2020
BMPR1A1Jul 14, 2020
BRCA11Jul 14, 2020
BTD3Jul 14, 2020
BTK2Jul 14, 2020
C11orf651Aug 5, 2020
C1QA1Aug 5, 2020
C1R1Jul 14, 2020
C61Aug 5, 2020
CA5A1Jul 14, 2020
CACNA1A2Aug 5, 2020
CACNA1G1Aug 5, 2020
CANT11Aug 5, 2020
CAPN11Aug 5, 2020
CBS1Jul 14, 2020
CCM21Aug 5, 2020
CDC421Jul 14, 2020
CFTR4Jul 14, 2020
CFTR-AS11Jul 14, 2020
CHEK21Aug 5, 2020
CHRNE1Jul 14, 2020
CLDN101Aug 5, 2020
CLDN161Aug 5, 2020
CLN61Jul 14, 2020
CNGA31Jul 14, 2020
CNGB31Aug 5, 2020
CNTNAP22Aug 5, 2020
COG61Aug 5, 2020
COL17A11Jul 14, 2020
COL18A11Aug 5, 2020
COL1A11Aug 5, 2020
COL2A11Aug 5, 2020
COL4A33Aug 5, 2020
COL4A41Jul 14, 2020
COL6A22Aug 5, 2020
COL7A11Aug 5, 2020
COQ41Aug 5, 2020
CTNS1Jul 14, 2020
CUL31Aug 5, 2020
CYP1B11Aug 5, 2020
CYP21A21Jul 14, 2020
CYP27A11Jul 14, 2020
CYP2U11Aug 5, 2020
CYP2U1-AS11Aug 5, 2020
DBT1Jul 14, 2020
DCDC21Jul 14, 2020
DDC1Jul 14, 2020
DEAF11Aug 5, 2020
DEPDC51Aug 5, 2020
DLD1Jul 14, 2020
DLL41Aug 5, 2020
DMD2Aug 5, 2020
DNAH111Aug 5, 2020
DNM21Aug 5, 2020
DNMT3A1Aug 5, 2020
DPYD1Jul 14, 2020
DSG21Jul 14, 2020
DUOXA21Aug 5, 2020
DYRK1A1Aug 5, 2020
DYSF1Aug 5, 2020
EHMT11Aug 5, 2020
EMD1Aug 5, 2020
EP3001Aug 5, 2020
EPCAM2Jul 14, 2020
ERCC61Aug 5, 2020
ERCC6-PGBD31Aug 5, 2020
ETFDH1Jul 14, 2020
ETHE12Aug 5, 2020
FA2H1Jul 14, 2020
FAH3Jul 14, 2020
FBN11Jul 14, 2020
FBP13Jul 14, 2020
FOXG11Aug 5, 2020
FOXP11Aug 5, 2020
FRRS1L1Aug 5, 2020
FUCA11Jul 14, 2020
G6PC12Jul 14, 2020
G6PD3Aug 5, 2020
GAA2Aug 5, 2020
GABBR21Aug 5, 2020
GALC1Aug 5, 2020
GALNS5Aug 5, 2020
GALT2Jul 14, 2020
GATAD11Jul 14, 2020
GBA1Jul 14, 2020
GLA1Aug 5, 2020
GLB13Jul 14, 2020
GLDN1Aug 5, 2020
GNB51Jul 14, 2020
GNPTAB2Aug 5, 2020
GRIN2D1Aug 5, 2020
GTPBP22Aug 5, 2020
HBB4Aug 5, 2020
HEXA3Jul 14, 2020
HEXB3Aug 5, 2020
HYLS11Aug 5, 2020
IDUA1Jul 14, 2020
IFT1402Aug 5, 2020
IFT571Aug 5, 2020
IGH1Jul 14, 2020
IGHM1Jul 14, 2020
IL21R1Jul 14, 2020
ITPA1Jul 14, 2020
IVD1Jul 14, 2020
JAG11Aug 5, 2020
JAM31Aug 5, 2020
KCNH11Aug 5, 2020
KCNQ22Aug 5, 2020
KIF1A2Aug 5, 2020
KIF221Aug 5, 2020
KIFBP1Aug 5, 2020
KMT2A1Aug 5, 2020
KMT2B1Aug 5, 2020
L2HGDH1Jul 14, 2020
LAMA21Aug 5, 2020
LAMB21Aug 5, 2020
LARP71Aug 5, 2020
LGI42Aug 5, 2020
LOC1060990623Aug 5, 2020
LOC1066279811Jul 14, 2020
LOC1067808001Jul 14, 2020
LOC1071335104Aug 5, 2020
LOC1096106311Aug 5, 2020
LOC1100063192Aug 5, 2020
LOC1116744721Jul 14, 2020
LOX1Aug 5, 2020
LPL4Jul 14, 2020
LRBA3Aug 5, 2020
MAB21L21Aug 5, 2020
MAGEL21Aug 5, 2020
MAN2B12Aug 5, 2020
MCOLN11Aug 5, 2020
MECP23Aug 5, 2020
MEFV1Jul 14, 2020
METTL231Aug 5, 2020
MFF-DT3Aug 5, 2020
MHRT1Aug 5, 2020
MIR302CHG1Aug 5, 2020
MLH11Jul 14, 2020
MMAA1Jul 14, 2020
MMACHC1Jul 14, 2020
MOGS1Aug 5, 2020
MPDZ1Aug 5, 2020
MPV171Jul 14, 2020
MYBPC31Aug 5, 2020
MYH71Aug 5, 2020
NAGA1Aug 5, 2020
NAGLU3Jul 14, 2020
NALCN1Jul 14, 2020
NDUFS41Aug 5, 2020
NDUFV11Jul 14, 2020
NEXMIF2Aug 5, 2020
NF12Aug 5, 2020
NKX6-23Aug 5, 2020
NPC18Aug 5, 2020
NPHS11Aug 5, 2020
NSUN21Aug 5, 2020
OXCT11Jul 14, 2020
PAH1Aug 5, 2020
PARS21Aug 5, 2020
PAX61Aug 5, 2020
PBX11Aug 5, 2020
PCCB1Aug 5, 2020
PEX12Jul 14, 2020
PEX21Aug 5, 2020
PGAP31Aug 5, 2020
PHKG22Jul 14, 2020
PIEZO21Aug 5, 2020
PIGN1Aug 5, 2020
PLA2G63Aug 5, 2020
PMM22Aug 5, 2020
POLG1Aug 5, 2020
POLR1C2Aug 5, 2020
POLR3A1Aug 5, 2020
POMT11Aug 5, 2020
PREPL1Aug 5, 2020
PRF11Jul 14, 2020
PRG43Aug 5, 2020
PRRT21Aug 5, 2020
PRSS12Jul 14, 2020
PRUNE11Aug 5, 2020
PTEN1Aug 5, 2020
PTPN112Aug 5, 2020
PURA2Aug 5, 2020
PUS31Aug 5, 2020
PYCR12Aug 5, 2020
RAB27A1Aug 5, 2020
RAC11Aug 5, 2020
RARS21Aug 5, 2020
RELB1Jul 14, 2020
RELN1Aug 5, 2020
RIT11Aug 5, 2020
ROBO32Aug 5, 2020
RPGRIP11Aug 5, 2020
SCAMP41Aug 5, 2020
SCN2A2Aug 5, 2020
SCN5A1Jul 14, 2020
SCYL11Aug 5, 2020
SELENON1Aug 5, 2020
SGPL11Aug 5, 2020
SI1Jul 14, 2020
SLC12A31Aug 5, 2020
SLC19A11Aug 5, 2020
SLC19A31Jul 14, 2020
SLC22A51Jul 14, 2020
SLC25A152Jul 14, 2020
SLC25A421Aug 5, 2020
SLC26A5-AS11Aug 5, 2020
SLC34A31Jul 14, 2020
SLC37A43Jul 14, 2020
SLC5A11Jul 14, 2020
SLC6A81Aug 5, 2020
SLC9A61Aug 5, 2020
SMN11Jul 14, 2020
SMPD17Aug 5, 2020
SOD11Jul 14, 2020
SOX111Aug 5, 2020
SPATA222Jul 14, 2020
SPG113Aug 5, 2020
SRFBP11Aug 5, 2020
STXBP21Jul 14, 2020
TAB21Aug 5, 2020
TANGO21Jul 14, 2020
TBCD1Aug 5, 2020
TBCK1Aug 5, 2020
TBX41Aug 5, 2020
TCF41Aug 5, 2020
TJP22Jul 14, 2020
TMEM2602Aug 5, 2020
TMPRSS152Jul 14, 2020
TNNT21Jul 14, 2020
TNXB1Jul 14, 2020
TPM31Aug 5, 2020
TRAPPC6B1Aug 5, 2020
TRB2Jul 14, 2020
TREX11Aug 5, 2020
TRMT10A1Aug 5, 2020
TRMU1Jul 14, 2020
TSC21Aug 5, 2020
TTN1Aug 5, 2020
UFM11Aug 5, 2020
UGDH1Aug 5, 2020
UGT1A4Aug 5, 2020
UGT1A14Aug 5, 2020
UGT1A104Aug 5, 2020
UGT1A34Aug 5, 2020
UGT1A44Aug 5, 2020
UGT1A54Aug 5, 2020
UGT1A64Aug 5, 2020
UGT1A74Aug 5, 2020
UGT1A84Aug 5, 2020
UGT1A94Aug 5, 2020
VPS13B1Aug 5, 2020
VWF1Jul 14, 2020
WDPCP1Aug 5, 2020
WDR621Jul 14, 2020
XIAP1Jul 14, 2020
XRCC21Aug 5, 2020
XYLT21Aug 5, 2020
ZBTB241Jul 14, 2020
ZEB21Aug 5, 2020

Condition

NameSubmissionsLast Updated
Achromatopsia 21Jul 14, 2020
Achromatopsia 31Aug 5, 2020
Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins1Jul 14, 2020
Acyl-CoA dehydrogenase deficiency, glutaric acidemia type II1Jul 14, 2020
Adams-Oliver syndrome 61Aug 5, 2020
Aicardi Goutieres syndrome 11Aug 5, 2020
Alagille syndrome 11Aug 5, 2020
Alazami syndrome1Aug 5, 2020
Alpha-N-acetylgalactosaminidase deficiency type 11Aug 5, 2020
Alport syndrome type 21Jul 14, 2020
Alport syndrome, autosomal recessive3Aug 5, 2020
Amyotrophic lateral sclerosis type 11Jul 14, 2020
Amyotrophic lateral sclerosis type 2, juvenile1Jul 14, 2020
Anemia, nonspherocytic hemolytic, due to G6PD deficiency1Aug 5, 2020
Aniridia 11Aug 5, 2020
Aortic aneurysm, familial thoracic 101Aug 5, 2020
Argininosuccinate lyase deficiency1Jul 14, 2020
Arrhythmogenic right ventricular cardiomyopathy, type 101Jul 14, 2020
Arthrogryposis multiplex congenita, neurogenic, with myelin defect2Aug 5, 2020
Arthrogryposis- oculomotor limitation-electroretinal anomalies syndrome1Aug 5, 2020
Ataxia-telangiectasia syndrome2Jul 14, 2020
Autosomal recessive agammaglobulinemia 11Jul 14, 2020
Autosomal recessive cutis laxa type 2B2Aug 5, 2020
Autosomal recessive limb-girdle muscular dystrophy type 2B1Aug 5, 2020
Bainbridge-Ropers syndrome1Aug 5, 2020
Baraitser-Winter syndrome 11Aug 5, 2020
Bardet-Biedl syndrome 151Aug 5, 2020
Bethlem myopathy 11Aug 5, 2020
Biotin-responsive basal ganglia disease1Jul 14, 2020
Biotinidase deficiency3Jul 14, 2020
Bloom syndrome1Aug 5, 2020
Breast-ovarian cancer, familial 11Jul 14, 2020
Brugada syndrome 11Jul 14, 2020
C1q deficiency1Aug 5, 2020
Camptodactyly-arthropathy-coxa vara-pericarditis syndrome3Aug 5, 2020
Carbonic anhydrase VA deficiency, hyperammonemia due to1Jul 14, 2020
Cerebral cavernous malformations 21Aug 5, 2020
Cholestanol storage disease1Jul 14, 2020
Chondrocalcinosis 21Aug 5, 2020
Christianson syndrome1Aug 5, 2020
Chromosome 22q11.2 deletion syndrome, distal1Jul 14, 2020
Ciliary dyskinesia, primary, 71Aug 5, 2020
Citrullinemia type I1Aug 5, 2020
Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency1Jul 14, 2020
Cockayne syndrome B1Aug 5, 2020
Coenzyme Q10 deficiency, primary, 71Aug 5, 2020
Coffin-Siris syndrome 11Aug 5, 2020
Cohen syndrome1Aug 5, 2020
Complement component 6 deficiency1Aug 5, 2020
Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay1Aug 5, 2020
Congenital contractures of the limbs and face, hypotonia, and developmental delay1Jul 14, 2020
Congenital disorder of glycosylation type 2B1Aug 5, 2020
Congenital disorder of glycosylation type 2L1Aug 5, 2020
Congenital disorder of glycosylation, type Ia2Aug 5, 2020
Congenital glucose-galactose malabsorption1Jul 14, 2020
Congenital heart defects, multiple types, 21Aug 5, 2020
Congenital sucrose-isomaltase deficiency1Jul 14, 2020
Coxopodopatellar syndrome1Aug 5, 2020
Creatine transporter deficiency1Aug 5, 2020
Crigler-Najjar syndrome type 12Jul 14, 2020
Cystic fibrosis4Jul 14, 2020
Cystinosis1Jul 14, 2020
Deficiency of alpha-mannosidase2Aug 5, 2020
Deficiency of aromatic-L-amino-acid decarboxylase1Jul 14, 2020
Desbuquois dysplasia 11Aug 5, 2020
Developmental and epileptic encephalopathy, 751Aug 5, 2020
Developmental and epileptic encephalopathy, 841Aug 5, 2020
Diarrhea 5, with tufting enteropathy, congenital2Jul 14, 2020
Dihydropyrimidine dehydrogenase deficiency1Jul 14, 2020
Distal trisomy 11q1Jul 14, 2020
Duchenne muscular dystrophy2Aug 5, 2020
Dyskinesia, seizures, and intellectual developmental disorder1Aug 5, 2020
Dystonia 28, childhood-onset1Aug 5, 2020
Early infantile epileptic encephalopathy 112Aug 5, 2020
Early infantile epileptic encephalopathy 591Aug 5, 2020
Early infantile epileptic encephalopathy 72Aug 5, 2020
Early infantile epileptic encephalopathy 81Aug 5, 2020
Ehlers-Danlos syndrome, periodontal type, 11Jul 14, 2020
Eichsfeld type congenital muscular dystrophy1Aug 5, 2020
Emery-Dreifuss muscular dystrophy 1, X-linked1Aug 5, 2020
Encephalopathy, progressive, early-onset, with brain atrophy and thin corpus callosum1Aug 5, 2020
Enterokinase deficiency2Jul 14, 2020
Epilepsy, familial focal, with variable foci 11Aug 5, 2020
Epilepsy, familial temporal lobe, 71Aug 5, 2020
Epileptic encephalopathy, early infantile, 11Aug 5, 2020
Epileptic encephalopathy, early infantile, 351Jul 14, 2020
Epileptic encephalopathy, early infantile, 371Aug 5, 2020
Epileptic encephalopathy, early infantile, 421Aug 5, 2020
Epileptic encephalopathy, early infantile, 461Aug 5, 2020
Ethylmalonic encephalopathy2Aug 5, 2020
Fabry disease1Aug 5, 2020
Familial Mediterranean fever1Jul 14, 2020
Familial adenomatous polyposis 11Aug 5, 2020
Familial cancer of breast1Aug 5, 2020
Familial hemophagocytic lymphohistiocytosis 21Jul 14, 2020
Familial hypertrophic cardiomyopathy 41Aug 5, 2020
Familial hypokalemia-hypomagnesemia1Aug 5, 2020
Familial intrahepatic cholestasis type 12Jul 14, 2020
Familial intrahepatic cholestasis type 25Jul 14, 2020
Familial intrahepatic cholestasis type 32Jul 14, 2020
Fanconi anemia, complementation group U1Aug 5, 2020
Finnish congenital nephrotic syndrome1Aug 5, 2020
Fructose-biphosphatase deficiency3Jul 14, 2020
Fucosidosis1Jul 14, 2020
G6PD deficient hemolytic anemia2Jul 14, 2020
GM1 gangliosidosis3Jul 14, 2020
Galactosemia2Jul 14, 2020
Galactosylceramide beta-galactosidase deficiency1Aug 5, 2020
Gaucher disease1Jul 14, 2020
Gaze palsy, familial horizontal, with progressive scoliosis 12Aug 5, 2020
Generalized dominant dystrophic epidermolysis bullosa1Aug 5, 2020
Generalized juvenile polyposis/juvenile polyposis coli1Jul 14, 2020
Gilbert syndrome2Aug 5, 2020
Glaucoma 3, primary congenital, A1Aug 5, 2020
Glucose-6-phosphate transport defect3Jul 14, 2020
Glycogen storage disease due to glucose-6-phosphatase deficiency type IA2Jul 14, 2020
Glycogen storage disease type III6Jul 14, 2020
Glycogen storage disease type IXc2Jul 14, 2020
Glycogen storage disease, type II2Aug 5, 2020
Goldberg-Shprintzen megacolon syndrome1Aug 5, 2020
Griscelli syndrome type 21Aug 5, 2020
HELIX syndrome1Aug 5, 2020
Hemophagocytic lymphohistiocytosis, familial, 51Jul 14, 2020
Hemorrhagic destruction of the brain, subependymal calcification, and cataracts1Aug 5, 2020
Hereditary fructosuria2Aug 5, 2020
Hereditary pancreatitis3Jul 14, 2020
Hereditary spastic paraplegia 3A1Aug 5, 2020
Homocystinuria1Jul 14, 2020
Hyaline fibromatosis syndrome1Aug 5, 2020
Hydrocephalus, congenital, 2, with or without brain or eye anomalies1Aug 5, 2020
Hyperinsulinemic hypoglycemia, familial, 11Jul 14, 2020
Hyperlipoproteinemia, type I4Jul 14, 2020
Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome2Jul 14, 2020
Hyperphosphatasia with mental retardation syndrome 41Aug 5, 2020
Hypertrichotic osteochondrodysplasia Cantu type1Jul 14, 2020
Hypomyelinating leukodystrophy 71Aug 5, 2020
Hypophosphatemic rickets with hypercalciuria1Jul 14, 2020
Hypotonia, infantile, with psychomotor retardation and characteristic facies 31Aug 5, 2020
Immunodeficiency 531Jul 14, 2020
Immunodeficiency 82Jul 14, 2020
Immunodeficiency type 561Jul 14, 2020
Immunodeficiency-centromeric instability-facial anomalies syndrome 21Jul 14, 2020
Infantile neuroaxonal dystrophy1Aug 5, 2020
Intellectual developmental disorder with cardiac arrhythmia1Jul 14, 2020
Intellectual disability, autosomal dominant 481Aug 5, 2020
Intellectual disability, autosomal dominant 92Aug 5, 2020
Isovaleryl-CoA dehydrogenase deficiency1Jul 14, 2020
Jaberi-Elahi syndrome2Aug 5, 2020
Joubert syndrome 41Jul 14, 2020
Junctional epidermolysis bullosa1Jul 14, 2020
Kleefstra syndrome 11Aug 5, 2020
Knobloch syndrome 11Aug 5, 2020
L-2-hydroxyglutaric aciduria1Jul 14, 2020
Leber congenital amaurosis 61Aug 5, 2020
Left ventricular noncompaction 61Jul 14, 2020
Lethal congenital contracture syndrome 111Aug 5, 2020
Leukodystrophy, hypomyelinating, 141Aug 5, 2020
Li-Fraumeni syndrome 21Aug 5, 2020
Long QT syndrome 31Jul 14, 2020
Lymphoproliferative syndrome 21Jul 14, 2020
Lynch syndrome II1Jul 14, 2020
Macrocephaly/autism syndrome1Aug 5, 2020
Maple syrup urine disease type 21Jul 14, 2020
Maple syrup urine disease, type 31Jul 14, 2020
Marfan syndrome1Jul 14, 2020
Mental retardation with language impairment and with or without autistic features1Aug 5, 2020
Mental retardation, X-linked 982Aug 5, 2020
Mental retardation, autosomal dominant 271Aug 5, 2020
Mental retardation, autosomal dominant 312Aug 5, 2020
Mental retardation, autosomal dominant 71Aug 5, 2020
Mental retardation, autosomal recessive 361Aug 5, 2020
Mental retardation, autosomal recessive 441Aug 5, 2020
Mental retardation, autosomal recessive 51Aug 5, 2020
Mental retardation, autosomal recessive 551Aug 5, 2020
Merosin deficient congenital muscular dystrophy1Aug 5, 2020
Metabolic crises with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration1Jul 14, 2020
Metabolic crises, recurrent, with variable encephalomyopathic features and neurologic regression1Aug 5, 2020
Metachromatic leukodystrophy1Aug 5, 2020
Methylmalonic aciduria of the cblA complementation type1Jul 14, 2020
Microcephaly, short stature, and impaired glucose metabolism 11Aug 5, 2020
Microphthalmia/coloboma and skeletal dysplasia syndrome1Aug 5, 2020
Mitochondrial DNA depletion syndrome type 61Jul 14, 2020
Mitochondrial complex 1 deficiency, nuclear type 41Jul 14, 2020
Mitochondrial complex I deficiency, nuclear type 11Aug 5, 2020
Mowat-Wilson syndrome1Aug 5, 2020
Moyamoya disease 51Aug 5, 2020
Mucolipidosis type II2Aug 5, 2020
Mucolipidosis type IV1Aug 5, 2020
Mucopolysaccharidosis type 11Jul 14, 2020
Mucopolysaccharidosis type 61Aug 5, 2020
Mucopolysaccharidosis, MPS-IV-A5Aug 5, 2020
Mucopolysaccharidosistype IIIB3Jul 14, 2020
Multiple congenital anomalies-hypotonia-seizures syndrome 11Aug 5, 2020
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 11Aug 5, 2020
Myasthenic syndrome, congenital, 221Aug 5, 2020
Myasthenic syndrome, congenital, 4b, fast-channel1Jul 14, 2020
Myopathy, centronuclear, 11Aug 5, 2020
Myopathy, distal, 11Aug 5, 2020
Myopathy, myofibrillar, 9, with early respiratory failure1Aug 5, 2020
Nemaline myopathy 11Aug 5, 2020
Nephrotic syndrome type 141Aug 5, 2020
Neurodegeneration with brain iron accumulation 2b2Aug 5, 2020
Neurodevelopmental disorder with microcephaly, epilepsy, and brain atrophy1Aug 5, 2020
Neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies1Aug 5, 2020
Neurofibromatosis, type 12Aug 5, 2020
Neuronal ceroid lipofuscinosis 61Jul 14, 2020
Niemann-Pick disease type C18Aug 5, 2020
Niemann-Pick disease, type A5Jul 14, 2020
Niemann-Pick disease, type B7Aug 5, 2020
Noonan syndrome 12Aug 5, 2020
Noonan syndrome 81Aug 5, 2020
Odontohypophosphatasia1Jul 14, 2020
Orofaciodigital syndrome 181Aug 5, 2020
Osteogenesis imperfecta, recessive perinatal lethal1Aug 5, 2020
Peroxisome biogenesis disorder 5a (zellweger)1Aug 5, 2020
Peroxisome biogenesis disorder type 1A2Jul 14, 2020
Phenylketonuria1Aug 5, 2020
Pierson syndrome1Aug 5, 2020
Pigmentary pallidal degeneration1Jul 14, 2020
Pitt-Hopkins syndrome1Aug 5, 2020
Pitt-Hopkins-like syndrome 12Aug 5, 2020
Platelet glycoprotein IV deficiency1Jul 14, 2020
Polyarteritis nodosa1Jul 14, 2020
Pontocerebellar hypoplasia type 61Aug 5, 2020
Primary hyperoxaluria, type I1Jul 14, 2020
Primary hypomagnesemia1Aug 5, 2020
Primary microcephaly type 21Jul 14, 2020
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 11Aug 5, 2020
Progressive familial intrahepatic cholestasis 21Aug 5, 2020
Progressive familial intrahepatic cholestasis 42Jul 14, 2020
Propionic acidemia1Aug 5, 2020
Pseudohypoaldosteronism type 2E1Aug 5, 2020
Pseudoxanthoma elasticum, forme fruste1Aug 5, 2020
Renal carnitine transport defect1Jul 14, 2020
Renal tubular acidosis, distal, autosomal recessive2Jul 14, 2020
Rett syndrome2Aug 5, 2020
Rett syndrome, congenital variant1Aug 5, 2020
Rubinstein-Taybi syndrome 21Aug 5, 2020
Saldino-Mainzer syndrome2Aug 5, 2020
Sandhoff disease3Aug 5, 2020
Schaaf-Yang syndrome1Aug 5, 2020
Sclerosing cholangitis, neonatal1Jul 14, 2020
Seizures, benign familial infantile, 21Aug 5, 2020
Spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy3Aug 5, 2020
Spastic paraplegia 11, autosomal recessive3Aug 5, 2020
Spastic paraplegia 351Jul 14, 2020
Spastic paraplegia 48, autosomal recessive1Aug 5, 2020
Spastic paraplegia 56, autosomal recessive1Aug 5, 2020
Spastic paraplegia 76, autosomal recessive1Aug 5, 2020
Spherocytosis type 11Jul 14, 2020
Spinocerebellar ataxia 421Aug 5, 2020
Spinocerebellar ataxia type 61Aug 5, 2020
Spinocerebellar ataxia, autosomal recessive 211Aug 5, 2020
Spondyloepimetaphyseal dysplasia with joint laxity, type 21Aug 5, 2020
Spondyloepiphyseal dysplasia congenita1Aug 5, 2020
Spondyloocular syndrome, autosomal recessive1Aug 5, 2020
Spongy degeneration of central nervous system2Jul 14, 2020
Structural heart defects and renal anomalies syndrome2Aug 5, 2020
Succinyl-CoA acetoacetate transferase deficiency1Jul 14, 2020
Syndromic X-linked intellectual disability Lubs type1Aug 5, 2020
Takenouchi-Kosaki syndrome1Jul 14, 2020
Tatton-Brown-rahman syndrome1Aug 5, 2020
Tay-Sachs disease3Jul 14, 2020
Tay-Sachs disease, variant AB3Jul 14, 2020
Thyroglobulin synthesis defect1Aug 5, 2020
Triglyceride storage disease with ichthyosis1Jul 14, 2020
Tuberous sclerosis 21Aug 5, 2020
Turner syndrome1Jul 14, 2020
Tyrosinemia type I3Jul 14, 2020
Ullrich congenital muscular dystrophy 11Aug 5, 2020
Usher syndrome, type 2C1Aug 5, 2020
Very long chain acyl-CoA dehydrogenase deficiency1Aug 5, 2020
Werdnig-Hoffmann disease1Jul 14, 2020
Wiedemann-Steiner syndrome1Aug 5, 2020
Wilson disease4Jul 14, 2020
X-linked agammaglobulinemia2Jul 14, 2020
X-linked chondrodysplasia punctata 11Aug 5, 2020
Zimmermann-Laband syndrome 11Aug 5, 2020
beta Thalassemia4Aug 5, 2020
cblC type of combined methylmalonic aciduria and homocystinuria1Jul 14, 2020
von Willebrand disorder1Jul 14, 2020

Testing in GTR

Disease nameNumber of tests
2,4-Dienoyl-CoA reductase deficiency1 test
2-aminoadipic 2-oxoadipic aciduria2 tests
2-hydroxyglutaric aciduria3 tests
22q13.3 deletion syndrome3 tests
3 Methylcrotonyl-CoA carboxylase 1 deficiency3 tests
3 beta-Hydroxysteroid dehydrogenase deficiency3 tests
3-Methylglutaconic aciduria type 13 tests
3-Methylglutaconic aciduria type 23 tests
3-Methylglutaconic aciduria type 33 tests
3-methylcrotonyl CoA carboxylase 2 deficiency3 tests
3-methylglutaconic aciduria type V4 tests
3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome3 tests
3MC syndrome 11 test
3MC syndrome 21 test
46,XX sex reversal, type 11 test
46,XY gonadal dysgenesis, partial, with minifascicular neuropathy2 tests
46,XY sex reversal 81 test
46,XY sex reversal, type 22 tests
5-Oxoprolinase deficiency3 tests
ABri amyloidosis2 tests
ACTH resistance1 test
ADULT syndrome2 tests
ADan amyloidosis2 tests
AICAR transformylase/IMP cyclohydrolase deficiency1 test
ALG1-CDG2 tests
ALG12-congenital disorder of glycosylation1 test
ALG2-CDG1 test
ALG3-CDG1 test
ALG8-CDG1 test
ALG9 congenital disorder of glycosylation1 test
Aarskog syndrome3 tests
Abetalipoproteinaemia1 test
Accelerated tumor formation, susceptibility to1 test
Acetyl-CoA: carboxylase deficiency2 tests
Acetylcholinesterase deficiency1 test
Achondrogenesis, type IB2 tests
Achondroplasia1 test
Achromatopsia 21 test
Achromatopsia 31 test
Achromatopsia 41 test
Achromatopsia 61 test
Acid phosphatase deficiency1 test
Acne inversa, familial, 34 tests
Acquired hemoglobin H disease2 tests
Acrocallosal syndrome2 tests
Acrocephalosyndactyly type I3 tests
Acrodysostosis 2, with or without hormone resistance1 test
Acroerythrokeratoderma1 test
Acromegaly, predisposition to, due to germline GPR101 mutation1 test
Acromelic frontonasal dysostosis1 test
Acromicric dysplasia2 tests
Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins3 tests
Acute lymphoid leukemia5 tests
Acute myeloid leukemia17 tests
Acute promyelocytic leukemia2 tests
Acyl-CoA dehydrogenase family, member 9, deficiency of4 tests
Adams-Oliver syndrome 11 test
Adams-Oliver syndrome 21 test
Adams-Oliver syndrome 31 test
Adams-Oliver syndrome 41 test
Adams-Oliver syndrome 51 test
Adams-Oliver syndrome 61 test
Adenine phosphoribosyltransferase deficiency1 test
Adenosine kinase deficiency4 tests
Adenosine triphosphate, elevated, of erythrocytes2 tests
Adenylosuccinate lyase deficiency4 tests
Adrenocortical carcinoma, hereditary1 test
Adrenocorticotropic hormone deficiency3 tests
Adrenoleukodystrophy4 tests
Adult hypophosphatasia1 test
Adult polyglucosan body disease2 tests
Afibrinogenemia, congenital3 tests
Agammaglobulinemia 2, autosomal recessive4 tests
Agammaglobulinemia 3, autosomal recessive4 tests
Agammaglobulinemia 4, autosomal recessive4 tests
Agammaglobulinemia 5, autosomal dominant4 tests
Agammaglobulinemia 6, autosomal recessive4 tests
Agammaglobulinemia 7, autosomal recessive2 tests
Agammaglobulinemia-microcephaly-craniosynostosis-severe dermatitis syndrome1 test
Age-related macular degeneration 111 test
Age-related macular degeneration 32 tests
Age-related macular degeneration 61 test
Age-related macular degeneration 81 test
Agenesis of the corpus callosum with peripheral neuropathy2 tests
Aicardi Goutieres syndrome1 test
Aicardi Goutieres syndrome 12 tests
Aicardi Goutieres syndrome 22 tests
Aicardi Goutieres syndrome 32 tests
Aicardi Goutieres syndrome 42 tests
Aicardi Goutieres syndrome 52 tests
Aicardi-Goutieres syndrome 61 test
Al-Raqad syndrome1 test
Alagille syndrome 13 tests
Alagille syndrome 22 tests
Albinism1 test
Albinism, ocular, with sensorineural deafness2 tests
Albinism, oculocutaneous, type V1 test
Albinism, oculocutaneous, type VII1 test
Alexander Disease2 tests
Alkaptonuria2 tests
Allan-Herndon-Dudley syndrome2 tests
Alopecia universalis congenita2 tests
Alpha thalassemia-X-linked intellectual disability syndrome2 tests
Alpha-1-antitrypsin deficiency4 tests
Alpha-2-macroglobulin deficiency1 test
Alpha-B crystallinopathy3 tests
Alpha-N-acetylgalactosaminidase deficiency type 11 test
Alpha-methylacyl-CoA racemase deficiency1 test
Alpha/beta T-cell lymphopenia with gamma/delta T-cell expansion, severe cytomegalovirus infection, and autoimmunity3 tests
Alport syndrome1 test
Alport syndrome 1, X-linked recessive1 test
Alport syndrome, autosomal recessive4 tests
Alstrom syndrome4 tests
Alveolar capillary dysplasia with pulmonary venous misalignment2 tests
Alveolar rhabdomyosarcoma2 tests
Alzheimer disease2 tests
Alzheimer disease 181 test
Alzheimer disease 22 tests
Alzheimer disease, type 11 test
Alzheimer disease, type 33 tests
Alzheimer disease, type 42 tests
Alzheimer disease, type 61 test
Amelocerebrohypohidrotic syndrome2 tests
Amelogenesis imperfecta - hypoplastic autosomal dominant - local1 test
Amelogenesis imperfecta type 1G1 test
Amelogenesis imperfecta, hypocalcification type1 test
Amelogenesis imperfecta, hypomaturation type IIA41 test
Amelogenesis imperfecta, hypomaturation type, IIA11 test
Amelogenesis imperfecta, hypomaturation type, IIA21 test
Amelogenesis imperfecta, hypomaturation type, IIA31 test
Amelogenesis imperfecta, type 1E1 test
Amelogenesis imperfecta, type IA2 tests
Amelogenesis imperfecta, type IC1 test
Amelogenesis imperfecta, type IF1 test
Amelogenesis imperfecta, type IH1 test
Amelogenesis imperfecta, type IV1 test
Amelotin deficiency1 test
Aminoacylase 1 deficiency1 test
Aminoglycoside-induced deafness3 tests
Amish lethal microcephaly4 tests
Amyloidogenic transthyretin amyloidosis1 test
Amyloidosis, primary localized cutaneous, 21 test
Amyotrophic lateral sclerosis4 tests
Amyotrophic lateral sclerosis 14, with or without frontotemporal dementia2 tests
Amyotrophic lateral sclerosis 15, with or without frontotemporal dementia2 tests
Amyotrophic lateral sclerosis 16, juvenile2 tests
Amyotrophic lateral sclerosis 172 tests
Amyotrophic lateral sclerosis 182 tests
Amyotrophic lateral sclerosis 191 test
Amyotrophic lateral sclerosis 212 tests
Amyotrophic lateral sclerosis 22 with or without frontotemporal dementia1 test
Amyotrophic lateral sclerosis 6, with or without frontotemporal dementia1 test
Amyotrophic lateral sclerosis and/or frontotemporal dementia 12 tests
Amyotrophic lateral sclerosis type 13 tests
Amyotrophic lateral sclerosis type 102 tests
Amyotrophic lateral sclerosis type 111 test
Amyotrophic lateral sclerosis type 122 tests
Amyotrophic lateral sclerosis type 2, juvenile2 tests
Amyotrophic lateral sclerosis type 41 test
Amyotrophic lateral sclerosis type 82 tests
Amyotrophic lateral sclerosis type 92 tests
Amyotrophic lateral sclerosis-parkinsonism-dementia complex1 test
Amyotrophy, hereditary neuralgic1 test
Anauxetic dysplasia 12 tests
Androgen-binding protein deficiency1 test
Anemia without thromobocytopenia, X-linked3 tests
Anemia, nonspherocytic hemolytic, due to G6PD deficiency5 tests
Anemia, sideroblastic, 14 tests
Anemia, sideroblastic, 2, pyridoxine-refractory3 tests
Angelman syndrome5 tests
Angelman syndrome-like2 tests
Angioedema, hereditary, autosomal recessive1 test
Anhaptoglobinemia1 test
Aniridia 12 tests
Anophthalmia-microphthalmia syndrome2 tests
Anophthalmia/microphthalmia-esophageal atresia syndrome3 tests
Anterior segment dysgenesis 11 test
Anterior segment dysgenesis 32 tests
Anterior segment dysgenesis 71 test
Antithrombin III deficiency3 tests
Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis3 tests
Aortic aneurysm, familial thoracic 101 test
Aortic aneurysm, familial thoracic 41 test
Aortic aneurysm, familial thoracic 63 tests
Aortic aneurysm, familial thoracic 72 tests
Aortic aneurysm, familial thoracic 81 test
Aortic aneurysm, familial thoracic 91 test
Aortic valve disease 13 tests
Aortic valve disease 21 test
Aplastic anemia9 tests
Apolipoprotein C2 deficiency3 tests
Apparent mineralocorticoid excess1 test
Arboleda-Tham syndrome1 test
Arginase deficiency3 tests
Arginine:glycine amidinotransferase deficiency3 tests
Argininosuccinate lyase deficiency3 tests
Aromatase deficiency1 test
Arrhythmogenic right ventricular cardiomyopathy1 test
Arrhythmogenic right ventricular cardiomyopathy, type 101 test
Arrhythmogenic right ventricular cardiomyopathy, type 111 test
Arrhythmogenic right ventricular cardiomyopathy, type 121 test
Arrhythmogenic right ventricular cardiomyopathy, type 51 test
Arrhythmogenic right ventricular dysplasia 82 tests
Arrhythmogenic right ventricular dysplasia 91 test
Arrhythmogenic right ventricular dysplasia, familial 11 test
Arterial calcification, generalized, of infancy, 11 test
Arterial tortuosity syndrome2 tests
Arthrogryposis multiplex congenita1 test
Arthrogryposis, renal dysfunction, and cholestasis 11 test
Arthrogryposis, renal dysfunction, and cholestasis 21 test
Arts syndrome4 tests
Ashkenazi Jewish disorders2 tests
Asparagine synthetase deficiency2 tests
Aspartylglucosaminuria4 tests
Asperger syndrome X-linked 12 tests
Asphyxiating thoracic dystrophy 41 test
Ataxia1 test
Ataxia, sensory, autosomal dominant1 test
Ataxia, spastic, 1, autosomal dominant2 tests
Ataxia, spastic, 2, autosomal recessive2 tests
Ataxia, spastic, 3, autosomal recessive2 tests
Ataxia, spastic, 4, autosomal recessive1 test
Ataxia-oculomotor apraxia 33 tests
Ataxia-oculomotor apraxia type 11 test
Ataxia-telangiectasia syndrome3 tests
Ataxia-telangiectasia-like disorder 14 tests
Ateleiotic dwarfism1 test
Atelosteogenesis type 11 test
Atelosteogenesis type II2 tests
Atelosteogenesis type III1 test
Atrial fibrillation, familial, 101 test
Atrial fibrillation, familial, 111 test
Atrial fibrillation, familial, 33 tests
Atrial fibrillation, familial, 41 test
Atrial fibrillation, familial, 61 test
Atrial fibrillation, familial, 71 test
Atrial septal defect 22 tests
Atrial septal defect 31 test
Atrial septal defect 42 tests
Atrial septal defect 7 with or without atrioventricular conduction defects2 tests
Atrial septal defect 82 tests
Atrial septal defect 92 tests
Atrichia with papular lesions2 tests
Atrioventricular septal defect 21 test
Atrioventricular septal defect 41 test
Atrioventricular septal defect 52 tests
Atrophia bulborum hereditaria2 tests
Attention deficit hyperactivity disorder1 test
Atypical chronic myeloid leukemia1 test
Atypical hemolytic uremic syndrome1 test
Atypical hemolytic-uremic syndrome 13 tests
Atypical hemolytic-uremic syndrome 21 test
Atypical hemolytic-uremic syndrome 31 test
Atypical hemolytic-uremic syndrome 41 test
Atypical hemolytic-uremic syndrome 52 tests
Atypical hemolytic-uremic syndrome 61 test
Atypical mycobacteriosis, familial, X-linked 21 test
Auditory neuropathy, autosomal dominant, 11 test
Auriculocondylar syndrome1 test
Auriculocondylar syndrome 12 tests
Auriculocondylar syndrome 22 tests
Autism 161 test
Autism 171 test
Autism spectrum disorder2 tests
Autism, SETD2 related1 test
Autism, susceptibility to, 181 test
Autism, susceptibility to, 191 test
Autism, susceptibility to, X-linked 11 test
Autism, susceptibility to, X-linked 22 tests
Autism, susceptibility to, X-linked 33 tests
Autism, susceptibility to, X-linked 41 test
Autism, susceptibility to, X-linked 52 tests
Autism, susceptibility to, X-linked 61 test
Autistic disorder of childhood onset9 tests
Autoimmune lymphoproliferative syndrome4 tests
Autoimmune lymphoproliferative syndrome type V1 test
Autoimmune lymphoproliferative syndrome, type III1 test
Autoimmune thyroid disease 32 tests
Autosomal dominant distal renal tubular acidosis2 tests
Autosomal dominant hypophosphatemic rickets1 test
Autosomal dominant medullary cystic kidney disease with hyperuricemia1 test
Autosomal dominant nonsyndromic deafness 171 test
Autosomal dominant nonsyndromic deafness 221 test
Autosomal dominant nonsyndromic deafness 2A3 tests
Autosomal dominant nonsyndromic deafness 62 tests
Autosomal dominant optic atrophy classic form1 test
Autosomal dominant osteopetrosis 21 test
Autosomal dominant polycystic kidney disease1 test
Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 14 tests
Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 22 tests
Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 32 tests
Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 43 tests
Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 51 test
Autosomal dominant pseudohypoaldosteronism type 11 test
Autosomal dominant torsion dystonia 44 tests
Autosomal recessive DOPA responsive dystonia2 tests
Autosomal recessive agammaglobulinemia 12 tests
Autosomal recessive axonal neuropathy with neuromyotonia3 tests
Autosomal recessive congenital ichthyosis 15 tests
Autosomal recessive congenital ichthyosis 102 tests
Autosomal recessive congenital ichthyosis 23 tests
Autosomal recessive congenital ichthyosis 32 tests
Autosomal recessive congenital ichthyosis 4A2 tests
Autosomal recessive congenital ichthyosis 4B2 tests
Autosomal recessive congenital ichthyosis 52 tests
Autosomal recessive congenital ichthyosis 63 tests
Autosomal recessive congenital ichthyosis 82 tests
Autosomal recessive congenital ichthyosis 92 tests
Autosomal recessive cutis laxa type 1B4 tests
Autosomal recessive cutis laxa type 2B2 tests
Autosomal recessive cutis laxa type 3B2 tests
Autosomal recessive cutis laxa type IA3 tests
Autosomal recessive hypophosphatemic bone disease1 test
Autosomal recessive hypophosphatemic vitamin D refractory rickets1 test
Autosomal recessive limb-girdle muscular dystrophy type 2B1 test
Autosomal recessive limb-girdle muscular dystrophy type 2D2 tests
Autosomal recessive limb-girdle muscular dystrophy type 2E1 test
Autosomal recessive limb-girdle muscular dystrophy type 2F1 test
Autosomal recessive limb-girdle muscular dystrophy type 2G2 tests
Autosomal recessive multiple pterygium syndrome1 test
Autosomal recessive omodysplasia1 test
Autosomal recessive osteopetrosis 12 tests
Autosomal recessive osteopetrosis 21 test
Autosomal recessive osteopetrosis 41 test
Autosomal recessive osteopetrosis 61 test
Autosomal recessive osteopetrosis 71 test
Autosomal recessive polycystic kidney disease4 tests
Autosomal recessive pseudohypoaldosteronism type 15 tests
Axenfeld-Rieger syndrome type 14 tests
Axenfeld-Rieger syndrome type 35 tests
Azorean disease2 tests
B-cell expansion with NFKB and T-cell anergy1 test
B4GALT1-CDG4 tests
BCG infection, generalized familial1 test
BH4-deficient hyperphenylalaninemia A3 tests
BLOOD GROUP--LUTHERAN INHIBITOR2 tests
BNAR syndrome1 test
Bailey-Bloch congenital myopathy1 test
Bainbridge-Ropers syndrome1 test
Baller-Gerold syndrome1 test
Bannayan-Riley-Ruvalcaba syndrome1 test
Baraitser-Winter Syndrome 21 test
Baraitser-Winter syndrome 11 test
Bardet-Biedl syndrome3 tests
Bardet-Biedl syndrome 11 test
Bardet-Biedl syndrome 101 test
Bardet-Biedl syndrome 111 test
Bardet-Biedl syndrome 121 test
Bardet-Biedl syndrome 131 test
Bardet-Biedl syndrome 142 tests
Bardet-Biedl syndrome 151 test
Bardet-Biedl syndrome 181 test
Bardet-Biedl syndrome 191 test
Bardet-Biedl syndrome 21 test
Bardet-Biedl syndrome 31 test
Bardet-Biedl syndrome 41 test
Bardet-Biedl syndrome 51 test
Bardet-Biedl syndrome 63 tests
Bardet-Biedl syndrome 71 test
Bardet-Biedl syndrome 81 test
Bardet-Biedl syndrome 91 test
Bare lymphocyte syndrome 21 test
Bartsocas-Papas syndrome1 test
Bartter disease type 4a3 tests
Bartter syndrome1 test
Bartter syndrome type 31 test
Bartter syndrome, type 1, antenatal5 tests
Bartter syndrome, type 2, antenatal1 test
Bartter syndrome, type 4b1 test
Basal cell carcinoma2 tests
Basal cell carcinoma, susceptibility to, 12 tests
Basal cell carcinoma, susceptibility to, 72 tests
Basal ganglia calcification, idiopathic, 61 test
Beare-Stevenson cutis gyrata syndrome3 tests
Becker muscular dystrophy2 tests
Beckwith-Wiedemann syndrome6 tests
Benign familial neonatal seizures 14 tests
Benign familial neonatal seizures 23 tests
Benign hereditary chorea2 tests
Benign scapuloperoneal muscular dystrophy with cardiomyopathy2 tests
Bent bone dysplasia syndrome3 tests
Bernard Soulier syndrome5 tests
Bernard-Soulier syndrome, type A2, autosomal dominant3 tests
Bestrophinopathy, autosomal recessive1 test
Beta-D-mannosidosis1 test
Beta-hydroxyisobutyryl-CoA deacylase deficiency3 tests
Beta-thalassemia, dominant inclusion body type2 tests
Bethlem myopathy 16 tests
Bethlem myopathy 21 test
Bietti crystalline corneoretinal dystrophy1 test
Bifunctional peroxisomal enzyme deficiency2 tests
Bilateral right-sidedness sequence1 test
Bile acid malabsorption, primary1 test
Bilirubin, serum level of, quantitative trait locus 12 tests
Biotin-responsive basal ganglia disease2 tests
Biotinidase deficiency3 tests
Birk-Barel syndrome1 test
Blau syndrome2 tests
Blepharophimosis, ptosis, and epicanthus inversus syndrome type 11 test
Blepharophimosis, ptosis, and epicanthus inversus syndrome type 21 test
Bloom syndrome2 tests
Body mass index quantitative trait locus 42 tests
Bohring-Opitz syndrome1 test
Bone marrow failure syndrome 11 test
Bone marrow failure syndrome 21 test
Bone osteosarcoma3 tests
Borjeson-Forssman-Lehmann syndrome2 tests
Bothnia retinal dystrophy1 test
Brachydactyly type A23 tests
Brachydactyly type B11 test
Bradyopsia2 tests
Brain small vessel disease 1 with or without ocular anomalies1 test
Branched-chain aminotransferase 1 deficiency1 test
Branched-chain aminotransferase 2 deficiency1 test
Branched-chain keto acid dehydrogenase kinase deficiency4 tests
Branchiooculofacial syndrome1 test
Branchiootic syndrome 13 tests
Branchiootic syndrome 32 tests
Branchiootorenal Syndrome 14 tests
Branchiootorenal syndrome 22 tests
Breast and colorectal cancer, susceptibility to1 test
Breast cancer 31 test
Breast cancer, 11-22 translocation-associated1 test
Breast cancer, early-onset1 test
Breast cancer, familial male1 test
Breast cancer, susceptibility to4 tests
Breast milk jaundice1 test
Breast neoplasm1 test
Breast-ovarian cancer, familial 15 tests
Breast-ovarian cancer, familial 24 tests
Breast-ovarian cancer, familial 34 tests
Breast-ovarian cancer, familial 43 tests
Brittle cornea syndrome 12 tests
Brody myopathy3 tests
Bronchiectasis with or without elevated sweat chloride 13 tests
Bronchiectasis with or without elevated sweat chloride 22 tests
Brooke-Spiegler syndrome1 test
Brown-Vialetto-Van Laere syndrome 21 test
Bruck syndrome 22 tests
Brugada syndrome2 tests
Brugada syndrome 11 test
Brugada syndrome 21 test
Brugada syndrome 34 tests
Brugada syndrome 43 tests
Brugada syndrome 51 test
Brugada syndrome 62 tests
Brugada syndrome 71 test
Brugada syndrome 81 test
Brunner syndrome2 tests
Budd-Chiari syndrome5 tests
Bullous ichthyosiform erythroderma3 tests
Burkitt lymphoma1 test
C syndrome1 test
C1q deficiency1 test
CARASIL syndrome1 test
CD59-mediated hemolytic anemia with or without immune-mediated polyneuropathy3 tests
CEDNIK syndrome1 test
CHARGE association4 tests
CHIME syndrome1 test
CK syndrome1 test
CODAS syndrome1 test
COG1 congenital disorder of glycosylation4 tests
COG7 congenital disorder of glycosylation4 tests
Camptodactyly-arthropathy-coxa vara-pericarditis syndrome1 test
Camptomelic dysplasia1 test
Cancer of cervix3 tests
Capillary malformation-arteriovenous malformation 11 test
Carcinoma of colon14 tests
Carcinoma of male breast1 test
Carcinoma of pancreas8 tests
Cardiac arrhythmia1 test
Cardiac valvular dysplasia, X-linked1 test
Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency1 test
Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 22 tests
Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 34 tests
Cardiofaciocutaneous syndrome 17 tests
Cardiofaciocutaneous syndrome 22 tests
Cardiofaciocutaneous syndrome 32 tests
Cardiofaciocutaneous syndrome 42 tests
Cardiomyopathy5 tests
Cardiomyopathy, dilated, 1NN2 tests
Cardiomyopathy, dilated, 1u3 tests
Cardiomyopathy, dilated, 2b1 test
Cardiomyopathy, fatal fetal, due to myocardial calcification1 test
Carnitine acylcarnitine translocase deficiency3 tests
Carnitine palmitoyltransferase 1A deficiency2 tests
Carnitine palmitoyltransferase I deficiency , muscle2 tests
Carnitine palmitoyltransferase II deficiency1 test
Carnitine palmitoyltransferase II deficiency, infantile2 tests
Carnitine palmitoyltransferase II deficiency, lethal neonatal2 tests
Carnitine palmitoyltransferase II deficiency, myopathic, stress-induced2 tests
Carotid intimal medial thickness 11 test
Cataract2 tests
Cataract 12 tests
Cataract 112 tests
Cataract 12, multiple types1 test
Cataract 13 with adult i phenotype1 test
Cataract 15, multiple types1 test
Cataract 16, multiple types2 tests
Cataract 183 tests
Cataract 19, multiple types2 tests
Cataract 2, multiple types1 test
Cataract 20 multiple types1 test
Cataract 21, multiple types2 tests
Cataract 23, multiple types1 test
Cataract 3, multiple types1 test
Cataract 301 test
Cataract 31 multiple types1 test
Cataract 33, multiple types1 test
Cataract 34, multiple types1 test
Cataract 39, multiple types1 test
Cataract 42 tests
Cataract 402 tests
Cataract 413 tests
Cataract 421 test
Cataract 432 tests
Cataract 441 test
Cataract 451 test
Cataract 5 multiple types2 tests
Cataract 6, multiple types1 test
Cataract Hutterite type1 test
Cataract, autosomal dominant1 test
Cataract, autosomal dominant nuclear1 test
Cataract, autosomal recessive congenital 11 test
Cataract, autosomal recessive congenital 41 test
Cataract, autosomal recessive congenital 52 tests
Cataract, congenital nuclear, autosomal recessive 21 test
Cataract, congenital nuclear, autosomal recessive 32 tests
Cataract, congenital zonular, with sutural opacities1 test
Cataract, juvenile, with microcornea and glucosuria1 test
Cataract-intellectual disability-hypogonadism syndrome4 tests
Catechol-o-methyltransferase deficiency1 test
Catecholaminergic polymorphic ventricular tachycardia type 11 test
Caudal regression sequence1 test
Central core myopathy2 tests
Cerebellar ataxia type 91 test
Cerebellar ataxia, Cayman type1 test
Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 12 tests
Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 21 test
Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 32 tests
Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 42 tests
Cerebellar ataxia, nonprogressive, with mental retardation2 tests
Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy type 11 test
Cerebral cavernous malformations 11 test
Cerebral cavernous malformations 21 test
Cerebral cavernous malformations 31 test
Cerebral folate transport deficiency2 tests
Cerebral palsy, spastic quadriplegic, 12 tests
Cerebral palsy, spastic quadriplegic, 22 tests
Cerebrooculofacioskeletal syndrome 21 test
Cerebrooculofacioskeletal syndrome 41 test
Cerebroretinal microangiopathy with calcifications and cysts 11 test
Ceroid lipofuscinosis neuronal 21 test
Charcot-Marie-Tooth Neuropathy X Type 11 test
Charcot-Marie-Tooth disease and deafness3 tests
Charcot-Marie-Tooth disease axonal type 2C2 tests
Charcot-Marie-Tooth disease axonal type 2F2 tests
Charcot-Marie-Tooth disease axonal type 2K2 tests
Charcot-Marie-Tooth disease dominant intermediate d1 test
Charcot-Marie-Tooth disease type 2B2 tests
Charcot-Marie-Tooth disease type 2B12 tests
Charcot-Marie-Tooth disease type 2B22 tests
Charcot-Marie-Tooth disease type 2D2 tests
Charcot-Marie-Tooth disease type 2E1 test
Charcot-Marie-Tooth disease type 2I1 test
Charcot-Marie-Tooth disease type 2J1 test
Charcot-Marie-Tooth disease type 2P2 tests
Charcot-Marie-Tooth disease, X-linked dominant, 61 test
Charcot-Marie-Tooth disease, X-linked recessive, type 54 tests
Charcot-Marie-Tooth disease, axonal, type 2O2 tests
Charcot-Marie-Tooth disease, axonal, type 2Q1 test
Charcot-Marie-Tooth disease, axonal, type 2R1 test
Charcot-Marie-Tooth disease, axonal, type 2u1 test
Charcot-Marie-Tooth disease, demyelinating, type 1b2 tests
Charcot-Marie-Tooth disease, demyelinating, type 1d4 tests
Charcot-Marie-Tooth disease, demyelinating, type 1f2 tests
Charcot-Marie-Tooth disease, demyelinating, type 4F1 test
Charcot-Marie-Tooth disease, dominant intermediate B2 tests
Charcot-Marie-Tooth disease, dominant intermediate C2 tests
Charcot-Marie-Tooth disease, dominant intermediate F2 tests
Charcot-Marie-Tooth disease, recessive intermediate B2 tests
Charcot-Marie-Tooth disease, recessive intermediate d2 tests
Charcot-Marie-Tooth disease, type 1C2 tests
Charcot-Marie-Tooth disease, type 2A12 tests
Charcot-Marie-Tooth disease, type 2A2A2 tests
Charcot-Marie-Tooth disease, type 2L2 tests
Charcot-Marie-Tooth disease, type 2N2 tests
Charcot-Marie-Tooth disease, type 4A1 test
Charcot-Marie-Tooth disease, type 4B12 tests
Charcot-Marie-Tooth disease, type 4B22 tests
Charcot-Marie-Tooth disease, type 4B31 test
Charcot-Marie-Tooth disease, type 4C3 tests
Charcot-Marie-Tooth disease, type 4D2 tests
Charcot-Marie-Tooth disease, type 4H2 tests
Charcot-Marie-Tooth disease, type 4J2 tests
Charcot-Marie-Tooth disease, type IA4 tests
Charlevoix-Saguenay spastic ataxia2 tests
Child syndrome2 tests
Childhood hypophosphatasia3 tests
Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia2 tests
Chloramphenicol toxicity1 test
Choanal atresia and lymphedema1 test
Cholestanol storage disease2 tests
Cholestasis of pregnancy1 test
Cholestasis, benign recurrent intrahepatic 12 tests
Cholestasis, infantile, NR1H4 related1 test
Cholestasis, progressive familial intrahepatic 13 tests
Cholesterol monooxygenase (side-chain cleaving) deficiency3 tests
Chondrodysplasia with joint dislocations, GPAPP type1 test
Chondrosarcoma1 test
Choreoacanthocytosis2 tests
Choreoathetosis1 test
Choroid plexus papilloma1 test
Choroidal dystrophy, central areolar 21 test
Choroideremia2 tests
Christianson syndrome4 tests
Chromosome 2q32-q33 deletion syndrome1 test
Chromosome 2q37 deletion syndrome1 test
Chromosome Xq28 deletion syndrome1 test
Chronic granulomatous disease, X-linked2 tests
Chronic granulomatous disease, autosomal recessive cytochrome b-positive, type 11 test
Chronic granulomatous disease, autosomal recessive cytochrome b-positive, type 21 test
Chronic obstructive pulmonary disease2 tests
Chudley-McCullough syndrome4 tests
Chylomicron retention disease8 tests
Chédiak-Higashi syndrome1 test
Ciliary dyskinesia, primary, 102 tests
Ciliary dyskinesia, primary, 112 tests
Ciliary dyskinesia, primary, 122 tests
Ciliary dyskinesia, primary, 132 tests
Ciliary dyskinesia, primary, 142 tests
Ciliary dyskinesia, primary, 152 tests
Ciliary dyskinesia, primary, 162 tests
Ciliary dyskinesia, primary, 171 test
Ciliary dyskinesia, primary, 181 test
Ciliary dyskinesia, primary, 191 test
Ciliary dyskinesia, primary, 21 test
Ciliary dyskinesia, primary, 201 test
Ciliary dyskinesia, primary, 261 test
Ciliary dyskinesia, primary, 271 test
Ciliary dyskinesia, primary, 281 test
Ciliary dyskinesia, primary, 291 test
Ciliary dyskinesia, primary, 32 tests
Ciliary dyskinesia, primary, 51 test
Ciliary dyskinesia, primary, 62 tests
Ciliary dyskinesia, primary, 72 tests
Ciliary dyskinesia, primary, 92 tests
Citrin deficiency1 test
Citrullinemia type I3 tests
Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency1 test
Classic homocystinuria3 tests
Cleft lip/palate-ectodermal dysplasia syndrome3 tests
Cleidocranial dysostosis1 test
Clubfoot1 test
Coarctation of aorta1 test
Cobalamin C disease2 tests
Cockayne syndrome type A1 test
Coenzyme Q10 deficiency, primary 15 tests
Coenzyme Q10 deficiency, primary, 24 tests
Coenzyme Q10 deficiency, primary, 34 tests
Coenzyme Q10 deficiency, primary, 42 tests
Coenzyme Q10 deficiency, primary, 54 tests
Coffin-Lowry syndrome4 tests
Coffin-Siris syndrome 13 tests
Cohen syndrome2 tests
Colchicine resistance1 test
Cole disease1 test
Coloboma, ocular, with or without hearing impairment, cleft lip/palate, and/or mental retardation1 test
Colorectal cancer 102 tests
Colorectal cancer, susceptibility to, 122 tests
Combined cellular and humoral immune defects with granulomas3 tests
Combined deficiency of sialidase AND beta galactosidase3 tests
Combined immunodeficiency due to ORAI1 deficiency3 tests
Combined immunodeficiency due to STIM1 deficiency4 tests
Combined immunodeficiency due to ZAP70 deficiency5 tests
Combined immunodeficiency, X-linked5 tests
Combined malonic and methylmalonic aciduria3 tests
Combined oxidative phosphorylation deficiency 12 tests
Combined oxidative phosphorylation deficiency 101 test
Combined oxidative phosphorylation deficiency 111 test
Combined oxidative phosphorylation deficiency 122 tests
Combined oxidative phosphorylation deficiency 133 tests
Combined oxidative phosphorylation deficiency 141 test
Combined oxidative phosphorylation deficiency 151 test
Combined oxidative phosphorylation deficiency 161 test
Combined oxidative phosphorylation deficiency 181 test
Combined oxidative phosphorylation deficiency 191 test
Combined oxidative phosphorylation deficiency 21 test
Combined oxidative phosphorylation deficiency 201 test
Combined oxidative phosphorylation deficiency 211 test
Combined oxidative phosphorylation deficiency 221 test
Combined oxidative phosphorylation deficiency 231 test
Combined oxidative phosphorylation deficiency 241 test
Combined oxidative phosphorylation deficiency 251 test
Combined oxidative phosphorylation deficiency 261 test
Combined oxidative phosphorylation deficiency 31 test
Combined oxidative phosphorylation deficiency 41 test
Combined oxidative phosphorylation deficiency 51 test
Combined oxidative phosphorylation deficiency 63 tests
Combined oxidative phosphorylation deficiency 73 tests
Combined oxidative phosphorylation deficiency 84 tests
Combined saposin deficiency3 tests
Common variable immunodeficiency 13 tests
Common variable immunodeficiency 102 tests
Common variable immunodeficiency 23 tests
Common variable immunodeficiency 33 tests
Common variable immunodeficiency 42 tests
Common variable immunodeficiency 63 tests
Common variable immunodeficiency 73 tests
Common variable immunodeficiency 8, with autoimmunity2 tests
Complement component 2 deficiency1 test
Complement component 3 deficiency, autosomal recessive1 test
Complement component 4, partial deficiency of2 tests
Complement component 5 deficiency1 test
Complement factor B deficiency1 test
Complete trisomy 21 syndrome4 tests
Cone dystrophy 31 test
Cone dystrophy 41 test
Cone dystrophy with supernormal rod response1 test
Cone-rod dystrophy 111 test
Cone-rod dystrophy 121 test
Cone-rod dystrophy 131 test
Cone-rod dystrophy 151 test
Cone-rod dystrophy 22 tests
Cone-rod dystrophy 201 test
Cone-rod dystrophy 31 test
Cone-rod dystrophy 51 test
Cone-rod dystrophy 71 test
Cone-rod dystrophy 91 test
Congenital adrenal hypoplasia, X-linked3 tests
Congenital amegakaryocytic thrombocytopenia1 test
Congenital aneurysm of ascending aorta4 tests
Congenital bilateral aplasia of vas deferens from CFTR mutation2 tests
Congenital bile acid synthesis defect 11 test
Congenital bile acid synthesis defect 23 tests
Congenital bile acid synthesis defect 41 test
Congenital brain dysgenesis due to glutamine synthetase deficiency1 test
Congenital cataracts-facial dysmorphism-neuropathy syndrome4 tests
Congenital central hypoventilation18 tests
Congenital contractural arachnodactyly2 tests
Congenital defect of folate absorption3 tests
Congenital disorder of glycosylation type 1C2 tests
Congenital disorder of glycosylation type 1E3 tests
Congenital disorder of glycosylation type 1M5 tests
Congenital disorder of glycosylation type 1N1 test
Congenital disorder of glycosylation type 1O1 test
Congenital disorder of glycosylation type 1t1 test
Congenital disorder of glycosylation type 1u1 test
Congenital disorder of glycosylation type 1w1 test
Congenital disorder of glycosylation type 2B1 test
Congenital disorder of glycosylation type 2F2 tests
Congenital disorder of glycosylation type 2H4 tests
Congenital disorder of glycosylation type 2J2 tests
Congenital disorder of glycosylation type 2L2 tests
Congenital disorder of glycosylation type 2i1 test
Congenital disorder of glycosylation type 2k2 tests
Congenital disorder of glycosylation type Ir2 tests
Congenital disorder of glycosylation, type IIa3 tests
Congenital disorder of glycosylation, type Ia3 tests
Congenital dyserythropoietic anemia type type 1B2 tests
Congenital dyserythropoietic anemia, type I3 tests
Congenital dyserythropoietic anemia, type II1 test
Congenital dyserythropoietic anemia, type IV2 tests
Congenital erythropoietic porphyria3 tests
Congenital generalized lipodystrophy type 11 test
Congenital generalized lipodystrophy type 21 test
Congenital hereditary endothelial dystrophy of the cornea1 test
Congenital hydrocephalus 12 tests
Congenital hyperammonemia, type I3 tests
Congenital hypomyelinating neuropathy 1, autosomal recessive4 tests
Congenital ichthyosis of skin1 test
Congenital lactase deficiency1 test
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type4 tests
Congenital lipomatous overgrowth, vascular malformations, and epidermal nevi1 test
Congenital muscular dystrophy-dystroglycanopathy (with or without mental retardation) type B51 test
Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A23 tests
Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A71 test
Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B12 tests
Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B22 tests
Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B61 test
Congenital muscular dystrophy-dystroglycanopathy without mental retardation, type B42 tests
Congenital myasthenic syndrome1 test
Congenital myasthenic syndrome 122 tests
Congenital myasthenic syndrome 1B, fast-channel3 tests
Congenital myasthenic syndrome 4C5 tests
Congenital myasthenic syndrome, acetazolamide-responsive1 test
Congenital myopathy with fiber type disproportion3 tests
Congenital myotonia, autosomal dominant form3 tests
Congenital plasminogen activator inhibitor type 1 deficiency1 test
Congenital secretory diarrhea, chloride type1 test
Congenital sensory neuropathy with selective loss of small myelinated fibers2 tests
Congenital stationary night blindness, autosomal dominant 21 test
Congenital stationary night blindness, autosomal dominant 31 test
Congenital stationary night blindness, type 1A1 test
Congenital stationary night blindness, type 1B1 test
Congenital stationary night blindness, type 1C1 test
Congenital stationary night blindness, type 1E1 test
Congenital stationary night blindness, type 2A1 test
Congenital stationary night blindness, type 2B1 test
Conotruncal heart malformations1 test
Corneal dystrophy, Fuchs endothelial, 32 tests
Cornelia de Lange syndrome 13 tests
Cornelia de Lange syndrome 31 test
Cornelia de Lange syndrome 41 test
Cornelia de Lange syndrome 51 test
Coronary heart disease 61 test
Corpus callosum agenesis-abnormal genitalia syndrome1 test
Corpus callosum, agenesis of3 tests
Corpus callosum, agenesis of, with mental retardation, ocular coloboma, and micrognathia1 test
Cortical dysplasia, complex, with other brain malformations 11 test
Cortical dysplasia, complex, with other brain malformations 31 test
Cortical malformations, occipital2 tests
Corticosterone 18-monooxygenase deficiency3 tests
Corticosterone methyloxidase type 2 deficiency2 tests
Costello syndrome3 tests
Cowchock syndrome3 tests
Cowden syndrome 12 tests
Cowden syndrome 61 test
Craniofacial anomalies and anterior segment dysgenesis syndrome1 test
Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome1 test
Craniofacial-deafness-hand syndrome2 tests
Craniometaphyseal dysplasia1 test
Craniosynostosis 12 tests
Craniosynostosis 21 test
Craniosynostosis 5, susceptibility to1 test
Creatine transporter deficiency2 tests
Creutzfeldt-Jakob Disease, Familial1 test
Crigler-Najjar syndrome2 tests
Crigler-Najjar syndrome, type II2 tests
Crouzon syndrome2 tests
Crouzon syndrome with acanthosis nigricans1 test
Cryohydrocytosis2 tests
Currarino triad1 test
Curry-Hall syndrome2 tests
Cushing syndrome2 tests
Cutaneous malignant melanoma 13 tests
Cutaneous malignant melanoma 24 tests
Cutaneous malignant melanoma 34 tests
Cutaneous malignant melanoma 41 test
Cutaneous malignant melanoma 61 test
Cutaneous malignant melanoma 81 test
Cutis laxa with osteodystrophy2 tests
Cutis laxa with severe pulmonary, gastrointestinal, and urinary abnormalities3 tests
Cutis laxa, X-linked4 tests
Cutis laxa, autosomal dominant 13 tests
Cutis laxa, autosomal dominant 23 tests
Cutis laxa, autosomal recessive IIIA3 tests
Cutis laxa, neonatal, with marfanoid phenotype1 test
Cyanosis, transient neonatal1 test
Cyclical neutropenia2 tests
Cylindromatosis, familial1 test
Cystathioninuria1 test
Cystic fibrosis4 tests
Cystinosis, atypical nephropathic1 test
Cystinuria5 tests
Cytochrome c oxidase i deficiency1 test
D-2-hydroxyglutaric aciduria 13 tests
D-Glyceric aciduria3 tests
DPAGT1-CDG4 tests
Dandy-walker malformation with occipital cephalocele, autosomal dominant1 test
Danon disease2 tests
De Lange syndrome1 test
Deafness dystonia syndrome4 tests
Deafness with labyrinthine aplasia microtia and microdontia (LAMM)1 test
Deafness, X-linked 13 tests
Deafness, X-linked 22 tests
Deafness, X-linked 42 tests
Deafness, X-linked 52 tests
Deafness, X-linked 61 test
Deafness, autosomal dominant 11 test
Deafness, autosomal dominant 103 tests
Deafness, autosomal dominant 111 test
Deafness, autosomal dominant 121 test
Deafness, autosomal dominant 131 test
Deafness, autosomal dominant 151 test
Deafness, autosomal dominant 201 test
Deafness, autosomal dominant 233 tests
Deafness, autosomal dominant 251 test
Deafness, autosomal dominant 281 test
Deafness, autosomal dominant 2b1 test
Deafness, autosomal dominant 362 tests
Deafness, autosomal dominant 3a2 tests
Deafness, autosomal dominant 3b1 test
Deafness, autosomal dominant 41 test
Deafness, autosomal dominant 411 test
Deafness, autosomal dominant 441 test
Deafness, autosomal dominant 481 test
Deafness, autosomal dominant 52 tests
Deafness, autosomal dominant 501 test
Deafness, autosomal dominant 641 test
Deafness, autosomal dominant 91 test
Deafness, autosomal recessive2 tests
Deafness, autosomal recessive 121 test
Deafness, autosomal recessive 152 tests
Deafness, autosomal recessive 163 tests
Deafness, autosomal recessive 182 tests
Deafness, autosomal recessive 1A4 tests
Deafness, autosomal recessive 1b3 tests
Deafness, autosomal recessive 22 tests
Deafness, autosomal recessive 222 tests
Deafness, autosomal recessive 232 tests
Deafness, autosomal recessive 242 tests
Deafness, autosomal recessive 252 tests
Deafness, autosomal recessive 282 tests
Deafness, autosomal recessive 292 tests
Deafness, autosomal recessive 32 tests
Deafness, autosomal recessive 302 tests
Deafness, autosomal recessive 312 tests
Deafness, autosomal recessive 352 tests
Deafness, autosomal recessive 36, with or without vestibular involvement2 tests
Deafness, autosomal recessive 371 test
Deafness, autosomal recessive 381 test
Deafness, autosomal recessive 392 tests
Deafness, autosomal recessive 4, with enlarged vestibular aqueduct3 tests
Deafness, autosomal recessive 401 test
Deafness, autosomal recessive 422 tests
Deafness, autosomal recessive 482 tests
Deafness, autosomal recessive 492 tests
Deafness, autosomal recessive 532 tests
Deafness, autosomal recessive 592 tests
Deafness, autosomal recessive 62 tests
Deafness, autosomal recessive 612 tests
Deafness, autosomal recessive 632 tests
Deafness, autosomal recessive 661 test
Deafness, autosomal recessive 672 tests
Deafness, autosomal recessive 72 tests
Deafness, autosomal recessive 703 tests
Deafness, autosomal recessive 742 tests
Deafness, autosomal recessive 772 tests
Deafness, autosomal recessive 792 tests
Deafness, autosomal recessive 82 tests
Deafness, autosomal recessive 842 tests
Deafness, autosomal recessive 891 test
Deafness, autosomal recessive 92 tests
Deafness, autosomal recessive 911 test
Deafness, autosomal recessive 931 test
Deafness, digenic, GJB2/GJB31 test
Deficiency of 2-methylbutyryl-CoA dehydrogenase3 tests
Deficiency of 3-hydroxyacyl-CoA dehydrogenase3 tests
Deficiency of N-acetylglucosamine-1-phosphotransferase1 test
Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase3 tests
Deficiency of acetyl-CoA acetyltransferase2 tests
Deficiency of alpha-mannosidase3 tests
Deficiency of aromatic-L-amino-acid decarboxylase3 tests
Deficiency of beta-ureidopropionase3 tests
Deficiency of butyryl-CoA dehydrogenase3 tests
Deficiency of butyrylcholine esterase1 test
Deficiency of cytochrome-b5 reductase1 test
Deficiency of ferroxidase2 tests
Deficiency of galactokinase4 tests
Deficiency of glycerol kinase3 tests
Deficiency of guanidinoacetate methyltransferase3 tests
Deficiency of hyaluronoglucosaminidase1 test
Deficiency of hydroxymethylglutaryl-CoA lyase4 tests
Deficiency of iodide peroxidase3 tests
Deficiency of isobutyryl-CoA dehydrogenase3 tests
Deficiency of malonyl-CoA decarboxylase2 tests
Deficiency of phosphoserine phosphatase3 tests
Deficiency of pyrroline-5-carboxylate reductase1 test
Deficiency of steroid 11-beta-monooxygenase3 tests
Deficiency of steroid 17-alpha-monooxygenase2 tests
Deficiency of transaldolase2 tests
Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema1 test
Dejerine-Sottas disease8 tests
Dendritic cell, monocyte, B lymphocyte, and natural killer lymphocyte deficiency1 test
Dent disease type 22 tests
Dentatorubral-pallidoluysian atrophy1 test
Dermatitis, atopic, 21 test
Dermatofibrosarcoma protuberans1 test
Dermatofibrosis lenticularis disseminata1 test
Desanto-shinawi syndrome1 test
Desbuquois dysplasia 11 test
Desbuquois dysplasia 21 test
Desmoid disease, hereditary2 tests
Desmosterolosis1 test
Developmental and epileptic encephalopathy 941 test
Developmental delay and microcephaly1 test
Developmental malformations-deafness-dystonia syndrome2 tests
DiGeorge Syndrome3 tests
DiGeorge syndrome/velocardiofacial syndrome complex 21 test
Diabetes mellitus type 11 test
Diabetes mellitus, insulin-dependent, 102 tests
Diabetes mellitus, insulin-dependent, 22 tests
Diabetes mellitus, insulin-dependent, 202 tests
Diabetes mellitus, neonatal, with congenital hypothyroidism3 tests
Diabetes mellitus, permanent neonatal, with cerebellar agenesis4 tests
Diamond-Blackfan anemia 13 tests
Diamond-Blackfan anemia 101 test
Diamond-Blackfan anemia 111 test
Diamond-Blackfan anemia 122 tests
Diamond-Blackfan anemia 131 test
Diamond-Blackfan anemia 14 with mandibulofacial dysostosis2 tests
Diamond-Blackfan anemia 15 with mandibulofacial dysostosis1 test
Diamond-Blackfan anemia 31 test
Diamond-Blackfan anemia 41 test
Diamond-Blackfan anemia 51 test
Diamond-Blackfan anemia 61 test
Diamond-Blackfan anemia 71 test
Diamond-Blackfan anemia 81 test
Diamond-Blackfan anemia 91 test
Diaphragmatic hernia 32 tests
Diaphyseal dysplasia1 test
Diaphyseal medullary stenosis-bone malignancy syndrome1 test
Diarrhea 61 test
Diastrophic dysplasia2 tests
Dihydropteridine reductase deficiency3 tests
Dihydropyrimidinase deficiency1 test
Dihydropyrimidine dehydrogenase deficiency1 test
Dilated cardiomyopathy 1A2 tests
Dilated cardiomyopathy 1AA1 test
Dilated cardiomyopathy 1C2 tests
Dilated cardiomyopathy 1CC1 test
Dilated cardiomyopathy 1DD1 test
Dilated cardiomyopathy 1E1 test
Dilated cardiomyopathy 1EE1 test
Dilated cardiomyopathy 1G1 test
Dilated cardiomyopathy 1HH1 test
Dilated cardiomyopathy 1I1 test
Dilated cardiomyopathy 1J3 tests
Dilated cardiomyopathy 1KK1 test
Dilated cardiomyopathy 1L1 test
Dilated cardiomyopathy 1M1 test
Dilated cardiomyopathy 1O1 test
Dilated cardiomyopathy 1P1 test
Dilated cardiomyopathy 1R1 test
Dilated cardiomyopathy 1S1 test
Dilated cardiomyopathy 1T1 test
Dilated cardiomyopathy 1V1 test
Dilated cardiomyopathy 1W1 test
Dilated cardiomyopathy 1X3 tests
Dilated cardiomyopathy 1Y1 test
Dilated cardiomyopathy 1Z1 test
Dilated cardiomyopathy 2A1 test
Dilated cardiomyopathy 3B1 test
Dilated cardiomyopathy with woolly hair and keratoderma1 test
Dimethylglycine dehydrogenase deficiency1 test
Disorder of fatty acid metabolism1 test
Disorder of the urea cycle metabolism1 test
Disordered steroidogenesis due to cytochrome p450 oxidoreductase deficiency1 test
Distal arthrogryposis type 1A2 tests
Distal arthrogryposis type 2B3 tests
Distal arthrogryposis type 5D1 test
Distal hereditary motor neuronopathy 2D1 test
Distal hereditary motor neuronopathy type 2A1 test
Distal hereditary motor neuronopathy type 2B1 test
Distal hereditary motor neuronopathy type 2C1 test
Distal hereditary motor neuronopathy type 51 test
Distal hereditary motor neuronopathy type 7B2 tests
Distal myopathy, Tateyama type2 tests
Distal spinal muscular atrophy, X-linked 34 tests
Distal spinal muscular atrophy, autosomal recessive 42 tests
Dominant dystrophic epidermolysis bullosa with absence of skin3 tests
Dopa-responsive dystonia due to sepiapterin reductase deficiency4 tests
Dowling-Degos disease 12 tests
Doyne honeycomb retinal dystrophy1 test
Drash syndrome3 tests
Duane syndrome type 11 test
Duane-radial ray syndrome3 tests
Dubin-Johnson syndrome3 tests
Duchenne muscular dystrophy1 test
Dyggve-Melchior-Clausen syndrome1 test
Dysfibrinogenemia, congenital2 tests
Dyskeratosis congenita autosomal recessive 12 tests
Dyskeratosis congenita, X-linked3 tests
Dyskeratosis congenita, autosomal dominant 12 tests
Dyskeratosis congenita, autosomal dominant, 31 test
Dyskeratosis congenita, autosomal recessive 21 test
Dyskeratosis congenita, autosomal recessive 62 tests
Dyskeratosis congenita, autosomal recessive, 51 test
Dyskinesia, familial, with facial myokymia1 test
Dystonia 12 tests
Dystonia 123 tests
Dystonia 163 tests
Dystonia 233 tests
Dystonia 242 tests
Dystonia 252 tests
Dystonia 26, myoclonic1 test
Dystonia 55 tests
Dystonia 93 tests
EAST syndrome4 tests
EEM syndrome1 test
EGFR-related lung cancer1 test
Early infantile epileptic encephalopathy 102 tests
Early infantile epileptic encephalopathy 113 tests
Early infantile epileptic encephalopathy 122 tests
Early infantile epileptic encephalopathy 132 tests
Early infantile epileptic encephalopathy 143 tests
Early infantile epileptic encephalopathy 152 tests
Early infantile epileptic encephalopathy 171 test
Early infantile epileptic encephalopathy 181 test
Early infantile epileptic encephalopathy 25 tests
Early infantile epileptic encephalopathy 211 test
Early infantile epileptic encephalopathy 44 tests
Early infantile epileptic encephalopathy 54 tests
Early infantile epileptic encephalopathy 73 tests
Early infantile epileptic encephalopathy 82 tests
Early infantile epileptic encephalopathy 93 tests
Early myoclonic encephalopathy2 tests
Early-onset autosomal dominant Alzheimer disease1 test
Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal2 tests
Ectodermal dysplasia 4, hair/nail type1 test
Ectodermal dysplasia 7, hair/nail type1 test
Ectodermal dysplasia 8, hair/tooth/nail type1 test
Ectodermal dysplasia and immunodeficiency 11 test
Ectopia lentis, isolated, autosomal dominant2 tests
Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 32 tests
Efavirenz response1 test
Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss1 test
Ehlers-Danlos syndrome, arthrochalasia type, 12 tests
Ehlers-Danlos syndrome, cardiac valvular type2 tests
Ehlers-Danlos syndrome, classic type5 tests
Ehlers-Danlos syndrome, hydroxylysine-deficient3 tests
Ehlers-Danlos syndrome, musculocontractural type 21 test
Ehlers-Danlos syndrome, progeroid type, 21 test
Ehlers-Danlos syndrome, type 33 tests
Ehlers-Danlos syndrome, type 43 tests
Ehlers-Danlos syndrome, type 7A1 test
Ehlers-Danlos syndrome, type 7B2 tests
Eichsfeld type congenital muscular dystrophy2 tests
Elevated serum creatine phosphokinase2 tests
Elliptocytosis 22 tests
Ellis-van Creveld syndrome4 tests
Emery-Dreifuss muscular dystrophy1 test
Emery-Dreifuss muscular dystrophy 1, X-linked2 tests
Emery-Dreifuss muscular dystrophy 4, autosomal dominant2 tests
Emery-Dreifuss muscular dystrophy 5, autosomal dominant2 tests
Emery-Dreifuss muscular dystrophy 61 test
Encephalomyopathy, mitochondrial, due to voltage-dependent anion channel deficiency1 test
Encephalopathy1 test
Encephalopathy due to defective mitochondrial and peroxisomal fission 12 tests
Encephalopathy, acute, infection-induced, 3, suceptibility to2 tests
Encephalopathy, acute, infection-induced, 4, susceptibility to2 tests
Encephalopathy, familial, with neuroserpin inclusion bodies2 tests
Endocrine-cerebroosteodysplasia1 test
Endometrial carcinoma6 tests
Endplate acetylcholinesterase deficiency2 tests
Enterokinase deficiency1 test
Epidermal nevus4 tests
Epidermolysis bullosa2 tests
Epidermolysis bullosa junctionalis with pyloric atresia3 tests
Epidermolysis bullosa pruriginosa3 tests
Epidermolysis bullosa simplex Dowling-Meara type3 tests
Epidermolysis bullosa simplex due to plakophilin deficiency1 test
Epidermolysis bullosa simplex with migratory circinate erythema3 tests
Epidermolysis bullosa simplex with mottled pigmentation5 tests
Epidermolysis bullosa simplex with muscular dystrophy5 tests
Epidermolysis bullosa simplex with nail dystrophy3 tests
Epidermolysis bullosa simplex with pyloric atresia3 tests
Epidermolysis bullosa simplex, Koebner type3 tests
Epidermolysis bullosa simplex, Ogna type3 tests
Epidermolysis bullosa simplex, autosomal recessive4 tests
Epidermolysis bullosa simplex, autosomal recessive 21 test
Epidermolysis bullosa, nonspecific, autosomal recessive1 test
Epidermolytic palmoplantar keratoderma1 test
Epilepsy with grand mal seizures on awakening1 test
Epilepsy, X-linked, with variable learning disabilities and behavior disorders2 tests
Epilepsy, childhood absence 22 tests
Epilepsy, childhood absence 41 test
Epilepsy, childhood absence 52 tests
Epilepsy, childhood absence 61 test
Epilepsy, childhood absence, JRK related1 test
Epilepsy, familial focal, with variable foci 12 tests
Epilepsy, familial temporal lobe, 52 tests
Epilepsy, focal, SCN3A related1 test
Epilepsy, focal, with speech disorder and with or without mental retardation1 test
Epilepsy, hearing loss, and mental retardation syndrome1 test
Epilepsy, idiopathic generalized 102 tests
Epilepsy, idiopathic generalized 82 tests
Epilepsy, idiopathic generalized, susceptibility to, 123 tests
Epilepsy, juvenile absence, susceptibility to, 12 tests
Epilepsy, juvenile myoclonic 51 test
Epilepsy, nocturnal frontal lobe, 52 tests
Epilepsy, nocturnal frontal lobe, type 13 tests
Epilepsy, nocturnal frontal lobe, type 32 tests
Epilepsy, nocturnal frontal lobe, type 43 tests
Epilepsy, progressive myoclonic 2b1 test
Epilepsy, progressive myoclonic 32 tests
Epilepsy, progressive myoclonic 4, with or without renal failure1 test
Epilepsy, progressive myoclonic 52 tests
Epilepsy, progressive myoclonic 62 tests
Epilepsy, progressive myoclonic 82 tests
Epileptic encephalopathy Lennox-Gastaut type2 tests
Epileptic encephalopathy, early infantile, 12 tests
Epileptic encephalopathy, early infantile, 231 test
Epileptic encephalopathy, early infantile, 241 test
Epileptic encephalopathy, early infantile, 252 tests
Epileptic encephalopathy, early infantile, 261 test
Epileptic encephalopathy, early infantile, 281 test
Epileptic encephalopathy, early infantile, 291 test
Epileptic encephalopathy, early infantile, 301 test
Epileptic encephalopathy, early infantile, 311 test
Epileptic encephalopathy, early infantile, 321 test
Epileptic encephalopathy, early infantile, 331 test
Epileptic encephalopathy, early infantile, 361 test
Epileptic encephalopathy, early infantile, 401 test
Epileptic encephalopathy, early infantile, 451 test
Episodic ataxia type 13 tests
Episodic ataxia type 22 tests
Episodic ataxia, type 52 tests
Episodic ataxia, type 62 tests
Episodic kinesigenic dyskinesia 12 tests
Episodic pain syndrome, familial, 22 tests
Episodic pain syndrome, familial, 31 test
Epithelial recurrent erosion dystrophy2 tests
Erythrocyte AMP deaminase deficiency1 test
Erythrocyte lactate transporter defect3 tests
Erythrocytosis, familial, 31 test
Erythrocytosis, familial, 41 test
Erythrokeratodermia variabilis et progressiva 12 tests
Essential hypertension1 test
Essential pentosuria1 test
Estrogen resistance1 test
Ethylmalonic encephalopathy5 tests
Exercise-induced hyperinsulinism3 tests
Exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarial hyperostosis2 tests
Exudative vitreoretinopathy 11 test
Exudative vitreoretinopathy 51 test
FG syndrome 13 tests
FG syndrome 21 test
FRAXE2 tests
FSH releasing protein deficiency1 test
Fabry disease3 tests
Facial dysmorphism, immunodeficiency, livedo, and short stature1 test
Facioscapulohumeral muscular dystrophy 1a1 test
Factor V deficiency3 tests
Factor VII deficiency3 tests
Factor X deficiency2 tests
Factor XII deficiency disease1 test
Factor XIII, A subunit, deficiency of3 tests
Factor XIII, b subunit, deficiency of1 test
Familial Mediterranean fever1 test
Familial adenomatous polyposis 12 tests
Familial adenomatous polyposis 33 tests
Familial amyloid nephropathy with urticaria AND deafness1 test
Familial atypical mycobacteriosis, type 1, X-linked1 test
Familial cancer of breast13 tests
Familial cold autoinflammatory syndrome 21 test
Familial colorectal cancer4 tests
Familial dysautonomia2 tests
Familial exudative vitreoretinopathy, X-linked1 test
Familial hemiplegic migraine type 11 test
Familial hemiplegic migraine type 22 tests
Familial hemiplegic migraine type 34 tests
Familial hemophagocytic lymphohistiocytosis1 test
Familial hemophagocytic lymphohistiocytosis 11 test
Familial hemophagocytic lymphohistiocytosis 31 test
Familial hemophagocytic lymphohistiocytosis 41 test
Familial hyperaldosteronism type 31 test
Familial hypercholesterolemia 11 test
Familial hypercholesterolemia 21 test
Familial hypercholesterolemia 31 test
Familial hypercholesterolemia 42 tests
Familial hyperkalemic periodic paralysis3 tests
Familial hypertrophic cardiomyopathy 13 tests
Familial hypertrophic cardiomyopathy 101 test
Familial hypertrophic cardiomyopathy 111 test
Familial hypertrophic cardiomyopathy 121 test
Familial hypertrophic cardiomyopathy 161 test
Familial hypertrophic cardiomyopathy 171 test
Familial hypertrophic cardiomyopathy 191 test
Familial hypertrophic cardiomyopathy 21 test
Familial hypertrophic cardiomyopathy 31 test
Familial hypertrophic cardiomyopathy 41 test
Familial hypertrophic cardiomyopathy 63 tests
Familial hypertrophic cardiomyopathy 71 test
Familial hypertrophic cardiomyopathy 81 test
Familial hypertrophic cardiomyopathy 91 test
Familial hypokalemia-hypomagnesemia2 tests
Familial infantile myasthenia2 tests
Familial isolated deficiency of vitamin E2 tests
Familial isolated hypoparathyroidism2 tests
Familial medullary thyroid carcinoma2 tests
Familial multiple trichoepitheliomata1 test
Familial partial lipodystrophy 31 test
Familial platelet disorder with associated myeloid malignancy1 test
Familial prostate carcinoma2 tests
Familial renal glucosuria1 test
Familial renal hypouricemia2 tests
Familial restrictive cardiomyopathy 11 test
Familial temporal lobe epilepsy 12 tests
Familial thoracic aortic aneurysm and aortic dissection2 tests
Familial visceral amyloidosis, Ostertag type2 tests
Fanconi anemia, complementation group A4 tests
Fanconi anemia, complementation group B3 tests
Fanconi anemia, complementation group C3 tests
Fanconi anemia, complementation group D14 tests
Fanconi anemia, complementation group D23 tests
Fanconi anemia, complementation group E1 test
Fanconi anemia, complementation group F1 test
Fanconi anemia, complementation group G1 test
Fanconi anemia, complementation group I1 test
Fanconi anemia, complementation group J2 tests
Fanconi anemia, complementation group L1 test
Fanconi anemia, complementation group M1 test
Fanconi anemia, complementation group N2 tests
Fanconi anemia, complementation group P1 test
Fanconi anemia, complementation group Q2 tests
Fanconi renotubular syndrome 4 with maturity-onset diabetes of the young2 tests
Fanconi-Bickel syndrome2 tests
Farber disease1 test
Fatal familial insomnia1 test
Febrile seizures, familial, 44 tests
Feingold syndrome 13 tests
Feingold syndrome 21 test
Fetal hemoglobin quantitative trait locus 14 tests
Fetal hemoglobin quantitative trait locus 62 tests
Fibrochondrogenesis 12 tests
Fibrochondrogenesis 21 test
Fibrosis of extraocular muscles, congenital, 11 test
Fibrosis of extraocular muscles, congenital, 21 test
Fibrosis of extraocular muscles, congenital, 3a, with or without extraocular involvement1 test
Finnish congenital nephrotic syndrome2 tests
Fleck retina, familial benign1 test
Floating-Harbor syndrome1 test
Focal cortical dysplasia type II2 tests
Focal dermal hypoplasia1 test
Focal segmental glomerulosclerosis1 test
Focal segmental glomerulosclerosis 12 tests
Focal segmental glomerulosclerosis 21 test
Focal segmental glomerulosclerosis 3, susceptibility to1 test
Focal segmental glomerulosclerosis 4, susceptibility to1 test
Focal segmental glomerulosclerosis 51 test
Focal segmental glomerulosclerosis 61 test
Focal segmental glomerulosclerosis 72 tests
Focal segmental glomerulosclerosis 81 test
Focal segmental glomerulosclerosis 91 test
Follicular lymphoma 11 test
Fragile X syndrome2 tests
Fragile X tremor/ataxia syndrome2 tests
Frank-Ter Haar syndrome1 test
Fraser syndrome 15 tests
Frasier syndrome2 tests
Freeman-Sheldon syndrome1 test
Friedreich ataxia 12 tests
Frontometaphyseal dysplasia 11 test
Frontonasal dysplasia 11 test
Frontonasal dysplasia 21 test
Frontonasal dysplasia 31 test
Frontotemporal dementia8 tests
Frontotemporal dementia and/or amyotrophic lateral sclerosis 21 test
Fructose uptake deficiency, SLC2A5 related1 test
Fructose-biphosphatase deficiency4 tests
Fructosuria, essential1 test
Fucosidosis4 tests
Fuhrmann syndrome1 test
Fukuyama congenital muscular dystrophy4 tests
Fumarase deficiency4 tests
GLUT1 deficiency syndrome 13 tests
GLUT1 deficiency syndrome 24 tests
GLUTAMATE FORMIMINOTRANSFERASE DEFICIENCY1 test
GM1 gangliosidosis2 tests
GM1 gangliosidosis type 22 tests
GM1 gangliosidosis type 32 tests
GM3 synthase deficiency4 tests
GNE myopathy5 tests
GRACILE syndrome3 tests
GTP cyclohydrolase I deficiency2 tests
Galactosylceramide beta-galactosidase deficiency5 tests
Galloway-Mowat syndrome 11 test
Gamma-aminobutyric acid transaminase deficiency4 tests
Gangliosidosis, generalized gm1, late-infantile type1 test
Gastric lymphoma1 test
Gastrointestinal stromal tumor7 tests
Gaucher disease type I1 test
Gaucher disease, atypical, due to saposin C deficiency2 tests
Gaze palsy, familial horizontal, with progressive scoliosis 11 test
Geleophysic dysplasia 11 test
Geleophysic dysplasia 22 tests
Generalized arterial calcification of infancy 21 test
Generalized dominant dystrophic epidermolysis bullosa4 tests
Generalized epilepsy with febrile seizures plus 31 test
Generalized epilepsy with febrile seizures plus type 51 test
Generalized epilepsy with febrile seizures plus, type 12 tests
Generalized epilepsy with febrile seizures plus, type 23 tests
Generalized epilepsy with febrile seizures plus, type 71 test
Generalized juvenile polyposis/juvenile polyposis coli4 tests
Genetic predisposition3 tests
Genitopatellar syndrome1 test
Gerstmann-Straussler-Scheinker syndrome1 test
Giant axonal neuropathy 13 tests
Gilbert syndrome2 tests
Gilbert syndrome, susceptibility to1 test
Gingival fibromatosis 12 tests
Glanzmann thrombasthenia3 tests
Glaucoma 1, open angle, A1 test
Glaucoma 1, open angle, F1 test
Glaucoma 1, open angle, G1 test
Glaucoma 1, open angle, O2 tests
Glaucoma 1, open angle, e1 test
Glaucoma 3, primary congenital, A1 test
Glaucoma 3, primary congenital, d1 test
Glioma susceptibility 17 tests
Glioma susceptibility 31 test
Globozoospermia1 test
Glucocorticoid deficiency 21 test
Glucocorticoid deficiency with achalasia3 tests
Glucocorticoid resistance, generalized1 test
Glucose-6-phosphate transport defect3 tests
Glutaric aciduria, type 12 tests
Glutaryl-CoA oxidase deficiency3 tests
Glutathione synthetase deficiency of erythrocytes, hemolytic anemia due to2 tests
Gluthathione synthetase deficiency3 tests
Glycine N-methyltransferase deficiency3 tests
Glycogen storage disease 0, muscle1 test
Glycogen storage disease II, adult form1 test
Glycogen storage disease IIIb1 test
Glycogen storage disease IXb1 test
Glycogen storage disease IXc1 test
Glycogen storage disease XI1 test
Glycogen storage disease XV1 test
Glycogen storage disease due to glucose-6-phosphatase deficiency type IA2 tests
Glycogen storage disease due to hepatic glycogen synthase deficiency3 tests
Glycogen storage disease due to muscle beta-enolase deficiency1 test
Glycogen storage disease of heart, lethal congenital4 tests
Glycogen storage disease type III3 tests
Glycogen storage disease type IXa11 test
Glycogen storage disease type X1 test
Glycogen storage disease, type I1 test
Glycogen storage disease, type II5 tests
Glycogen storage disease, type IV4 tests
Glycogen storage disease, type V2 tests
Glycogen storage disease, type VI2 tests
Glycogen storage disease, type VII1 test
Goldberg-Shprintzen megacolon syndrome1 test
Gorlin syndrome3 tests
Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative1 test
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type III1 test
Greig cephalopolysyndactyly syndrome1 test
Griscelli syndrome type 11 test
Griscelli syndrome type 21 test
Growth delay due to insulin-like growth factor I resistance3 tests
Growth delay due to insulin-like growth factor type 1 deficiency3 tests
Growth hormone insensitivity with immune dysregulation 1, autosomal recessive3 tests
Growth retardation, developmental delay, coarse facies, and early death1 test
Guillain-Barre syndrome, familial2 tests
Guttmacher syndrome1 test
HNSHA due to aldolase A deficiency4 tests
HSD10 disease3 tests
Haddad syndrome3 tests
Haim-Munk syndrome1 test
Hajdu-Cheney syndrome2 tests
Hamamy syndrome1 test
Hand-foot-genital syndrome1 test
Harlequin syndrome1 test
Hartsfield syndrome2 tests
Hawkinsinuria3 tests
Hay-Wells syndrome of ectodermal dysplasia2 tests
Hb SS disease3 tests
Hecht syndrome1 test
Heinz body anemia2 tests
Helsmoortel-Van der Aa Syndrome1 test
Hemangioma, capillary infantile4 tests
Hemochromatosis type 11 test
Hemochromatosis type 2A1 test
Hemochromatosis type 2B1 test
Hemochromatosis type 31 test
Hemochromatosis type 41 test
Hemolytic uremic syndrome, atypical, susceptibility to, 71 test
Hemophagocytic lymphohistiocytosis, familial, 51 test
Hemorrhagic destruction of the brain, subependymal calcification, and cataracts1 test
Hennekam lymphangiectasia-lymphedema syndrome 11 test
Hennekam lymphangiectasia-lymphedema syndrome 21 test
Hepatic adenomas, familial3 tests
Hepatic methionine adenosyltransferase deficiency3 tests
Hepatocellular carcinoma7 tests
Hereditary acrodermatitis enteropathica1 test
Hereditary amyloidosis1 test
Hereditary angioedema type 12 tests
Hereditary breast and ovarian cancer syndrome3 tests
Hereditary cerebral amyloid angiopathy, Icelandic type2 tests
Hereditary congenital facial paresis 31 test
Hereditary coproporphyria1 test
Hereditary diffuse gastric cancer6 tests
Hereditary diffuse leukoencephalopathy with spheroids1 test
Hereditary disease3 tests
Hereditary essential tremor 11 test
Hereditary factor II deficiency disease1 test
Hereditary factor IX deficiency disease3 tests
Hereditary factor VIII deficiency disease3 tests
Hereditary factor XI deficiency disease3 tests
Hereditary fructosuria2 tests
Hereditary hearing loss and deafness1 test
Hereditary hemorrhagic telangiectasia type 13 tests
Hereditary hyperferritinemia with congenital cataracts2 tests
Hereditary insensitivity to pain with anhidrosis2 tests
Hereditary leiomyomatosis and renal cell cancer1 test
Hereditary liability to pressure palsies3 tests
Hereditary lymphedema type I1 test
Hereditary mixed polyposis syndrome 11 test
Hereditary mixed polyposis syndrome 23 tests
Hereditary motor and sensory neuropathy, Okinawa type2 tests
Hereditary neutrophilia1 test
Hereditary nonpolyposis colorectal cancer type 43 tests
Hereditary nonpolyposis colorectal cancer type 53 tests
Hereditary nonpolyposis colorectal cancer type 61 test
Hereditary nonpolyposis colorectal cancer type 71 test
Hereditary nonpolyposis colorectal cancer type 83 tests
Hereditary pancreatitis7 tests
Hereditary pyropoikilocytosis2 tests
Hereditary sensory and autonomic neuropathy type 12 tests
Hereditary sensory and autonomic neuropathy type IC1 test
Hereditary sensory and autonomic neuropathy type II1 test
Hereditary sensory and autonomic neuropathy type IIA4 tests
Hereditary sensory and autonomic neuropathy type IIB2 tests
Hereditary sensory and autonomic neuropathy type IIC1 test
Hereditary sensory neuropathy type IE3 tests
Hereditary spastic paraplegia 103 tests
Hereditary spastic paraplegia 122 tests
Hereditary spastic paraplegia 132 tests
Hereditary spastic paraplegia 152 tests
Hereditary spastic paraplegia 182 tests
Hereditary spastic paraplegia 22 tests
Hereditary spastic paraplegia 262 tests
Hereditary spastic paraplegia 392 tests
Hereditary spastic paraplegia 3A2 tests
Hereditary spastic paraplegia 5A2 tests
Hereditary spastic paraplegia 62 tests
Hereditary spastic paraplegia 72 tests
Hereditary spastic paraplegia 82 tests
Hereditary xanthinuria type 11 test
Hermansky-Pudlak syndrome 12 tests
Hermansky-Pudlak syndrome 23 tests
Hermansky-Pudlak syndrome 32 tests
Hermansky-Pudlak syndrome 42 tests
Hermansky-Pudlak syndrome 52 tests
Hermansky-Pudlak syndrome 62 tests
Hermansky-Pudlak syndrome 72 tests
Hermansky-Pudlak syndrome 82 tests
Hermansky-Pudlak syndrome 91 test
Herpes simplex encephalitis 11 test
Herpes simplex encephalitis 21 test
Herpes simplex encephalitis, susceptibility to, 31 test
Herpes simplex encephalitis, susceptibility to, 41 test
Heterotaxia2 tests
Heterotaxy, visceral, 1, X-linked1 test
Heterotaxy, visceral, 2, autosomal2 tests
Heterotaxy, visceral, 4, autosomal1 test
Heterotaxy, visceral, 6, autosomal1 test
Heterotaxy, visceral, 7, autosomal1 test
Heterotopia, periventricular, autosomal recessive2 tests
Hirschsprung disease 112 tests
Hirschsprung disease 42 tests
Hirschsprung disease, cardiac defects, and autonomic dysfunction1 test
Histiocytic medullary reticulosis5 tests
Histiocytosis-lymphadenopathy plus syndrome1 test
Holocarboxylase synthetase deficiency3 tests
Holoprosencephaly 111 test
Holoprosencephaly 21 test
Holoprosencephaly 31 test
Holoprosencephaly 41 test
Holoprosencephaly 51 test
Holoprosencephaly 91 test
Holoprosencephaly sequence2 tests
Holt-Oram syndrome4 tests
Homocystinuria due to MTHFR deficiency1 test
Homocystinuria due to methylene tetrahydrofolate reductase deficiency2 tests
Homocystinuria-Megaloblastic anemia due to defect in cobalamin metabolism, cblE complementation type5 tests
Hoyeraal-Hreidarsson syndrome1 test
Human HOXA1 syndromes2 tests
Huntington disease2 tests
Huntington disease-like 12 tests
Huntington disease-like 21 test
Hurler syndrome1 test
Hurthle cell carcinoma of thyroid1 test
Hyaline fibromatosis syndrome1 test
Hydatidiform mole, recurrent, 11 test
Hydatidiform mole, recurrent, 21 test
Hydranencephaly with renal aplasia-dysplasia1 test
Hydrocephalus, congenital, 2, with or without brain or eye anomalies2 tests
Hydrolethalus syndrome 11 test
Hyper-IgE recurrent infection syndrome 1, autosomal dominant1 test
Hyper-IgM syndrome type 13 tests
Hyper-IgM syndrome type 23 tests
Hyper-IgM syndrome type 33 tests
Hyper-IgM syndrome type 53 tests
Hyperaldosteronism, familial, type I2 tests
Hyperammonemia, type III3 tests
Hypercholanemia, familial4 tests
Hyperekplexia1 test
Hyperekplexia 14 tests
Hyperekplexia 31 test
Hyperimmunoglobulin D with periodic fever2 tests
Hyperimmunoglobulin E recurrent infection syndrome, autosomal recessive2 tests
Hyperinsulinemic hypoglycemia familial 52 tests
Hyperinsulinemic hypoglycemia, familial, 13 tests
Hyperinsulinemic hypoglycemia, familial, 23 tests
Hyperinsulinemic hypoglycemia, familial, 42 tests
Hyperinsulinism due to glucokinase deficiency3 tests
Hyperinsulinism, UCP2 related1 test
Hyperinsulinism-hyperammonemia syndrome1 test
Hyperlipoproteinemia, type I1 test
Hyperlysinemia3 tests
Hypermanganesemia with dystonia, polycythemia, and cirrhosis1 test
Hypermethioninemia with s-adenosylhomocysteine hydrolase deficiency3 tests
Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome1 test
Hyperphenylalaninemia, BH4-deficient, D3 tests
Hyperphosphatasemia with bone disease1 test
Hyperphosphatasia with mental retardation syndrome 11 test
Hyperphosphatasia with mental retardation syndrome 21 test
Hyperphosphatasia with mental retardation syndrome 31 test
Hyperphosphatasia with mental retardation syndrome 41 test
Hyperproinsulinemia2 tests
Hyperthyroidism, familial gestational2 tests
Hyperthyroidism, nonautoimmune2 tests
Hypertrichosis cubiti-short stature syndrome1 test
Hypertrichotic osteochondrodysplasia Cantu type1 test
Hypertriglyceridemia, transient infantile1 test
Hypertrophic cardiomyopathy 251 test
Hypertrophic osteoarthropathy, primary, autosomal recessive, 11 test
Hypertrophy of the breast, juvenile1 test
Hyperuricemic nephropathy, familial juvenile, 21 test
Hypobetalipoproteinemia, familial, 12 tests
Hypocalcemia, autosomal dominant 12 tests
Hypocalcemia, autosomal dominant 23 tests
Hypocalciuric hypercalcemia, familial, type 13 tests
Hypocalciuric hypercalcemia, familial, type II2 tests
Hypocalciuric hypercalcemia, familial, type III1 test
Hypoglycemia, neonatal, simulating foetopathia diabetica3 tests
Hypogonadism, diabetes mellitus, alopecia, mental retardation and electrocardiographic abnormalities1 test
Hypogonadotropic hypogonadism 1 with or without anosmia (Kallmann syndrome 1)1 test
Hypogonadotropic hypogonadism 10 with or without anosmia1 test
Hypogonadotropic hypogonadism 11 with or without anosmia1 test
Hypogonadotropic hypogonadism 12 with or without anosmia1 test
Hypogonadotropic hypogonadism 14 with or without anosmia1 test
Hypogonadotropic hypogonadism 15 with or without anosmia1 test
Hypogonadotropic hypogonadism 16 with or without anosmia1 test
Hypogonadotropic hypogonadism 2 with or without anosmia6 tests
Hypogonadotropic hypogonadism 24 without anosmia1 test
Hypogonadotropic hypogonadism 4 with or without anosmia1 test
Hypogonadotropic hypogonadism 5 with or without anosmia2 tests
Hypogonadotropic hypogonadism 7 with or without anosmia4 tests
Hypogonadotropic hypogonadism 9 with or without anosmia1 test
Hypohidrotic X-linked ectodermal dysplasia1 test
Hypokalemic periodic paralysis 13 tests
Hypomagnesemia 1, intestinal1 test
Hypomagnesemia 5, renal, with ocular involvement1 test
Hypomagnesemia 6, renal1 test
Hypomyelinating leukodystrophy 32 tests
Hypomyelinating leukodystrophy 72 tests
Hypomyelinating leukodystrophy 8, with or without oligodontia and/or hypogonadotropic hypogonadism2 tests
Hypomyelination and Congenital Cataract2 tests
Hypomyelination with brainstem and spinal cord involvement and leg spasticity1 test
Hypomyelination, global cerebral1 test
Hypoparathyroidism, deafness, renal disease syndrome3 tests
Hypoparathyroidism-retardation-dysmorphism syndrome1 test
Hypophosphatemic rickets, X-linked recessive1 test
Hypophosphatemic rickets, autosomal recessive, 21 test
Hypoplastic enamel-onycholysis-hypohidrosis syndrome2 tests
Hypoplastic left heart syndrome 21 test
Hypospadias 1, X-linked1 test
Hypospadias 2, X-linked1 test
Hypothyroidism, congenital, nongoitrous, 13 tests
Hypothyroidism, congenital, nongoitrous, 23 tests
Hypothyroidism, congenital, nongoitrous, 51 test
Hypothyroidism, congenital, nongoitrous, 63 tests
Hypothyroidism, isolated, TRHR related1 test
Hypotonia, infantile, with psychomotor retardation and characteristic facies 11 test
Hypotonia-cystinuria syndrome2 tests
Hypotrichosis 12 tests
Hypotrichosis 112 tests
Hypotrichosis 122 tests
Hypotrichosis 131 test
Hypotrichosis 21 test
Hypotrichosis 31 test
Hypotrichosis 42 tests
Hypotrichosis 62 tests
Hypotrichosis 72 tests
Hypotrichosis 82 tests
Hypotrichosis-lymphedema-telangiectasia syndrome1 test
Hystrix-like ichthyosis with deafness2 tests
IFAP syndrome with or without BRESHECK syndrome1 test
IL21R immunodeficiency3 tests
Ichthyosis1 test
Ichthyosis bullosa of Siemens1 test
Ichthyosis lamellar, recessive1 test
Ichthyosis prematurity syndrome1 test
Ichthyosis vulgaris1 test
Ichthyosis, congenital, autosomal recessive 111 test
Ichthyosis, spastic quadriplegia, and mental retardation1 test
Idiopathic Pulmonary Fibrosis2 tests
Idiopathic basal ganglia calcification 11 test
Idiopathic hypereosinophilic syndrome3 tests
Idiopathic nephrotic syndrome1 test
Ige responsiveness, atopic2 tests
Imerslund-Gräsbeck syndrome4 tests
Immunodeficiency 111 test
Immunodeficiency 123 tests
Immunodeficiency 143 tests
Immunodeficiency 153 tests
Immunodeficiency 173 tests
Immunodeficiency 184 tests
Immunodeficiency 195 tests
Immunodeficiency 223 tests
Immunodeficiency 243 tests
Immunodeficiency 26 with or without neurologic abnormalities3 tests
Immunodeficiency 302 tests
Immunodeficiency 32a3 tests
Immunodeficiency 32b3 tests
Immunodeficiency 351 test
Immunodeficiency 361 test
Immunodeficiency 38 with basal ganglia calcification1 test
Immunodeficiency 671 test
Immunodeficiency 83 tests
Immunodeficiency due to defect in cd3-zeta5 tests
Immunodeficiency due to defect in mapbp-interacting protein3 tests
Immunodeficiency without anhidrotic ectodermal dysplasia1 test
Immunodeficiency, X-Linked, with magnesium defect, Epstein-Barr virus infection, and neoplasia3 tests
Immunodeficiency-centromeric instability-facial anomalies syndrome 11 test
Immunodeficiency-centromeric instability-facial anomalies syndrome 21 test
Immunoglobulin A deficiency 22 tests
Inclusion body myositis1 test
Incontinentia pigmenti syndrome1 test
Infantile GM1 gangliosidosis3 tests
Infantile cerebellar-retinal degeneration2 tests
Infantile cortical hyperostosis2 tests
Infantile hypophosphatasia1 test
Infantile liver failure syndrome 21 test
Infantile nephronophthisis1 test
Infantile neuroaxonal dystrophy1 test
Infantile nystagmus, X-linked1 test
Infantile onset spinocerebellar ataxia1 test
Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations1 test
Infertility1 test
Infertility associated with multi-tailed spermatozoa and excessive DNA1 test
Infertility due to oligospermia1 test
Inflammatory bowel disease 131 test
Inflammatory skin and bowel disease, neonatal 11 test
Inflammatory skin and bowel disease, neonatal, 21 test
Insensitivity to pain with hyperplastic myelinopathy1 test
Insulin-dependent diabetes mellitus secretory diarrhea syndrome1 test
Insulin-resistant diabetes mellitus AND acanthosis nigricans3 tests
Intellectual disability, TBR1 related1 test
Intellectual disability, X-linked 141 test
Intellectual disability, X-linked 213 tests
Intellectual disability, X-linked syndromic, Turner type2 tests
Intellectual disability, autosomal dominant 91 test
Interleukin 2 receptor, alpha, deficiency of3 tests
Interstitial lung disease, nephrotic syndrome, and epidermolysis bullosa, congenital1 test
Interstitial nephritis, karyomegalic1 test
Intervertebral disc disorder2 tests
Intestinal pseudo-obstruction1 test
Intrahepatic cholestasis of pregnancy, NR1H4 related1 test
Intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, and genital anomalies1 test
Intrinsic factor deficiency1 test
Invasive pneumococcal disease, recurrent isolated, 12 tests
Iodotyrosine deiodination defect1 test
Iodotyrosyl coupling defect3 tests
Irido-corneo-trabecular dysgenesis1 test
Ischemic stroke, susceptibility to1 test
Isolated growth hormone deficiency type IB1 test
Isolated sulfite oxidase deficiency3 tests
Isovaleryl-CoA dehydrogenase deficiency3 tests
Jackson-Weiss syndrome5 tests
Jalili syndrome1 test
Jervell and Lange-Nielsen syndrome 13 tests
Jervell and Lange-Nielsen syndrome 23 tests
Johanson-Blizzard syndrome1 test
Joubert syndrome 13 tests
Joubert syndrome 102 tests
Joubert syndrome 132 tests
Joubert syndrome 141 test
Joubert syndrome 152 tests
Joubert syndrome 162 tests
Joubert syndrome 172 tests
Joubert syndrome 181 test
Joubert syndrome 22 tests
Joubert syndrome 202 tests
Joubert syndrome 211 test
Joubert syndrome 222 tests
Joubert syndrome 231 test
Joubert syndrome 32 tests
Joubert syndrome 42 tests
Joubert syndrome 54 tests
Joubert syndrome 61 test
Joubert syndrome 71 test
Joubert syndrome 82 tests
Joubert syndrome 91 test
Joubert syndrome with hepatic defect4 tests
Joubert syndrome, EXOC8 related1 test
Joubert syndrome, EXOSC8 related1 test
Junctional epidermolysis bullosa4 tests
Junctional epidermolysis bullosa gravis of Herlitz3 tests
Junctional epidermolysis bullosa, non-Herlitz type3 tests
Juvenile myelomonocytic leukemia6 tests
Juvenile myopathy, encephalopathy, lactic acidosis AND stroke5 tests
Juvenile nephropathic cystinosis2 tests
Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome4 tests
Juvenile retinoschisis1 test
KBG syndrome2 tests
Kabuki syndrome 13 tests
Kabuki syndrome 24 tests
Kallmann syndrome 31 test
Kartagener syndrome3 tests
Kell blood group system1 test
Kennedy disease2 tests
Kenny-Caffey syndrome type 21 test
Keratitis-ichthyosis-deafness syndrome, autosomal dominant3 tests
Keratoconus 11 test
Keratosis follicularis spinulosa decalvans, X-linked1 test
Keratosis palmoplantaris striata II3 tests
Keutel syndrome1 test
Kindler syndrome3 tests
Kleefstra syndrome 11 test
Klippel-Feil syndrome 1, autosomal dominant2 tests
Klippel-Feil syndrome 2, autosomal recessive2 tests
Klippel-Feil syndrome 3, autosomal dominant2 tests
Klippel-feil syndrome 4, autosomal recessive, with nemaline myopathy and facial dysmorphism2 tests
Knobloch syndrome 11 test
Knuckle pads, deafness AND leukonychia syndrome3 tests
Koolen-de Vries syndrome2 tests
Kostmann syndrome1 test
Krabbe disease, atypical, due to saposin A deficiency2 tests
Kufor-Rakeb syndrome3 tests
Kugelberg-Welander disease2 tests
L-2-hydroxyglutaric aciduria1 test
LCAT deficiency1 test
LEOPARD syndrome 12 tests
LEOPARD syndrome 22 tests
LEOPARD syndrome 35 tests
Lactate dehydrogenase B deficiency1 test
Lafora disease3 tests
Langer-Giedion syndrome2 tests
Large congenital melanocytic nevus1 test
Larsen syndrome1 test
Laryngo-onycho-cutaneous syndrome3 tests
Late-onset retinal degeneration1 test
Leber congenital amaurosis 11 test
Leber congenital amaurosis 102 tests
Leber congenital amaurosis 111 test
Leber congenital amaurosis 122 tests
Leber congenital amaurosis 131 test
Leber congenital amaurosis 141 test
Leber congenital amaurosis 161 test
Leber congenital amaurosis 172 tests
Leber congenital amaurosis 31 test
Leber congenital amaurosis 41 test
Leber congenital amaurosis 51 test
Leber congenital amaurosis 61 test
Leber congenital amaurosis 71 test
Leber congenital amaurosis 91 test
Leber optic atrophy, susceptibility to15 tests
Left ventricular noncompaction 61 test
Left ventricular noncompaction 81 test
Left-right axis malformations1 test
Legius syndrome3 tests
Leigh syndrome24 tests
Lenz microphthalmia syndrome3 tests
Leprechaunism syndrome2 tests
Lesch-Nyhan syndrome4 tests
Lethal Kniest-like syndrome2 tests
Lethal acantholytic epidermolysis bullosa3 tests
Lethal congenital contracture syndrome 11 test
Lethal congenital contracture syndrome 41 test
Lethal multiple pterygium syndrome2 tests
Lethal osteosclerotic bone dysplasia1 test
Lethal tight skin contracture syndrome1 test
Leucine-induced hypoglycemia2 tests
Leukemia3 tests
Leukemia, acute lymphoblastic, susceptibility to1 test
Leukemia, acute lymphoblastic, susceptibility to, 31 test
Leukemia, acute, ?X-linked1 test
Leukocyte adhesion deficiency 12 tests
Leukocyte adhesion deficiency type II4 tests
Leukocyte adhesion deficiency, type III1 test
Leukodystrophy1 test
Leukodystrophy, adult-onset, autosomal dominant2 tests
Leukodystrophy, hypomyelinating, 22 tests
Leukodystrophy, hypomyelinating, 41 test
Leukodystrophy, hypomyelinating, 61 test
Leukodystrophy, hypomyelinating, 91 test
Leukoencephalopathy1 test
Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome2 tests
Leukoencephalopathy with dystonia and motor neuropathy2 tests
Leukoencephalopathy with vanishing white matter6 tests
Leukoencephalopathy, cystic, without megalencephaly2 tests
Leukoencephalopathy, progressive, with ovarian failure4 tests
Levy-Hollister syndrome4 tests
Lewy body dementia2 tests
Leydig cell adenoma, somatic, with male-limited precocious puberty1 test
Leydig cell hypoplasia, type II1 test
Li-Fraumeni syndrome 12 tests
Li-Fraumeni syndrome 24 tests
Liddle syndrome 12 tests
Lig4 syndrome4 tests
Limb-girdle muscular dystrophy8 tests
Limb-girdle muscular dystrophy, type 1E2 tests
Limb-girdle muscular dystrophy, type 1F1 test
Limb-girdle muscular dystrophy, type 1G1 test
Limb-girdle muscular dystrophy, type 2A3 tests
Limb-girdle muscular dystrophy, type 2J2 tests
Limb-girdle muscular dystrophy, type 2L2 tests
Limb-girdle muscular dystrophy, type 2Q2 tests
Limb-girdle muscular dystrophy, type 2S2 tests
Limb-girdle muscular dystrophy-dystroglycanopathy, type C13 tests
Limb-girdle muscular dystrophy-dystroglycanopathy, type C22 tests
Limb-girdle muscular dystrophy-dystroglycanopathy, type C43 tests
Limb-girdle muscular dystrophy-dystroglycanopathy, type C51 test
Limb-girdle muscular dystrophy-dystroglycanopathy, type C92 tests
Limb-mammary syndrome2 tests
Linear skin defects with multiple congenital anomalies 11 test
Lipodystrophy, congenital generalized, type 41 test
Lipoprotein glomerulopathy1 test
Lissencephaly1 test
Lissencephaly 2, X-linked3 tests
Lissencephaly 31 test
Lissencephaly 41 test
Lissencephaly due to LIS1 mutation1 test
Lissencephaly, X-linked3 tests
Liver failure1 test
Localized epidermolysis bullosa simplex3 tests
Loeys-Dietz syndrome1 test
Loeys-Dietz syndrome 13 tests
Loeys-Dietz syndrome 23 tests
Loeys-Dietz syndrome 31 test
Loeys-Dietz syndrome 42 tests
Loeys-Dietz syndrome 51 test
Long QT syndrome1 test
Long QT syndrome 13 tests
Long QT syndrome 101 test
Long QT syndrome 113 tests
Long QT syndrome 121 test
Long QT syndrome 131 test
Long QT syndrome 142 tests
Long QT syndrome 23 tests
Long QT syndrome 31 test
Long QT syndrome 41 test
Long QT syndrome 53 tests
Long QT syndrome 61 test
Long QT syndrome 91 test
Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency1 test
Low phospholipid associated cholelithiasis1 test
Lowe syndrome1 test
Lucey-Driscoll syndrome2 tests
Lung adenocarcinoma3 tests
Lung cancer, protection against1 test
Lung carcinoma9 tests
Luscan-lumish syndrome1 test
Lymphangiomyomatosis6 tests
Lymphedema, primary, with myelodysplasia1 test
Lymphedema-distichiasis syndrome with renal disease and diabetes mellitus1 test
Lymphoproliferative syndrome 11 test
Lymphoproliferative syndrome 1, X-linked1 test
Lymphoproliferative syndrome 21 test
Lymphoproliferative syndrome 2, X-linked1 test
Lynch syndrome I5 tests
Lynch syndrome II3 tests
Lysinuric protein intolerance3 tests
Lysosomal acid lipase deficiency3 tests
MASA syndrome2 tests
MASS syndrome4 tests
MERRF syndrome3 tests
MERRF/MELAS overlap syndrome3 tests
MMEP syndrome1 test
MORM syndrome1 test
MPDU1-CDG1 test
MPI-CDG1 test
MYH-associated polyposis3 tests
MYH7-related late-onset scapuloperoneal muscular dystrophy1 test
Macrocephaly, alopecia, cutis laxa, and scoliosis2 tests
Macrocephaly, macrosomia, facial dysmorphism syndrome1 test
Macroglobulinemia, Waldenstrom, susceptibility to, 11 test
Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss1 test
Macular dystrophy, patterned, 12 tests
Macular dystrophy, vitelliform, adult-onset1 test
Majeed syndrome1 test
Major affective disorder 12 tests
Major affective disorder 71 test
Malignant hyperthermia susceptibility1 test
Malignant hyperthermia, susceptibility to, 12 tests
Malignant hyperthermia, susceptibility to, 51 test
Malignant melanoma of skin3 tests
Malignant neoplasm of other specified sites of female breast1 test
Malignant tumor of esophagus2 tests
Malignant tumor of prostate9 tests
Malignant tumor of testis8 tests
Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome1 test
Mandibuloacral dysplasia with type B lipodystrophy1 test
Mandibulofacial dysostosis-microcephaly syndrome3 tests
Mannose-binding protein deficiency1 test
Maple syrup urine disease3 tests
Maple syrup urine disease type 1A1 test
Maple syrup urine disease type 1B1 test
Maple syrup urine disease type 21 test
Maple syrup urine disease, mild variant2 tests
Maple syrup urine disease, type 33 tests
Marden-Walker syndrome1 test
Marfan Syndrome type 21 test
Marfan lipodystrophy syndrome1 test
Marfan syndrome4 tests
Marinesco-Sjögren syndrome2 tests
Marshall syndrome2 tests
Marshall-Smith syndrome1 test
Mast syndrome2 tests
Mastocytosis1 test
Maternal riboflavin deficiency3 tests
Matthew-Wood syndrome2 tests
Maturity onset diabetes mellitus in young2 tests
Maturity-onset diabetes of the young type 43 tests
Maturity-onset diabetes of the young type 61 test
Maturity-onset diabetes of the young type 71 test
Maturity-onset diabetes of the young type 81 test
Maturity-onset diabetes of the young type 91 test
Maturity-onset diabetes of the young, type 16 tests
Maturity-onset diabetes of the young, type 103 tests
Maturity-onset diabetes of the young, type 111 test
Maturity-onset diabetes of the young, type 132 tests
Maturity-onset diabetes of the young, type 23 tests
Maturity-onset diabetes of the young, type 33 tests
McCune-Albright syndrome2 tests
McKusick-Kaufman syndrome5 tests
McLeod neuroacanthocytosis syndrome2 tests
Meacham syndrome2 tests
Meckel syndrome type 11 test
Meckel syndrome type 81 test
Meckel syndrome, type 101 test
Meckel syndrome, type 31 test
Meckel syndrome, type 43 tests
Meckel syndrome, type 91 test
Meconium ileus1 test
Medium-chain acyl-coenzyme A dehydrogenase deficiency3 tests
Medulloblastoma2 tests
Meester-loeys syndrome1 test
Megaconial type congenital muscular dystrophy1 test
Megalencephalic leukoencephalopathy with subcortical cysts 12 tests
Megalencephalic leukoencephalopathy with subcortical cysts 2a2 tests
Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 12 tests
Megaloblastic anemia due to dihydrofolate reductase deficiency1 test
Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness2 tests
Megalocornea1 test
Meier-Gorlin syndrome 11 test
Meier-Gorlin syndrome 41 test
Melanoma1 test
Melanoma and neural system tumor syndrome2 tests
Melanoma, cutaneous malignant, susceptibility to, 101 test
Melanoma-pancreatic cancer syndrome3 tests
Melnick-Needles syndrome1 test
Meningioma, familial4 tests
Menkes kinky-hair syndrome2 tests
Mental retardation 17, X-linked2 tests
Mental retardation 30, X-linked2 tests
Mental retardation 46, X-linked2 tests
Mental retardation 58, X-linked2 tests
Mental retardation 63, X-linked2 tests
Mental retardation 9, X-linked2 tests
Mental retardation 91, X-linked2 tests
Mental retardation 92, X-linked1 test
Mental retardation 95, X-linked2 tests
Mental retardation X-linked with cerebellar hypoplasia and distinctive facial appearance2 tests
Mental retardation and distinctive facial features with or without cardiac defects1 test
Mental retardation and microcephaly with pontine and cerebellar hypoplasia3 tests
Mental retardation with language impairment and with or without autistic features2 tests
Mental retardation with panhypopituitarism, X-linked1 test
Mental retardation, X-linked 12 tests
Mental retardation, X-linked 1011 test
Mental retardation, X-linked 1021 test
Mental retardation, X-linked 193 tests
Mental retardation, X-linked 452 tests
Mental retardation, X-linked 722 tests
Mental retardation, X-linked 932 tests
Mental retardation, X-linked 962 tests
Mental retardation, X-linked 981 test
Mental retardation, X-linked 992 tests
Mental retardation, X-linked, syndromic 102 tests
Mental retardation, X-linked, syndromic 133 tests
Mental retardation, X-linked, syndromic 322 tests
Mental retardation, X-linked, syndromic, Hedera type2 tests
Mental retardation, X-linked, syndromic, Raymond type2 tests
Mental retardation, X-linked, syndromic, martin-probst type2 tests
Mental retardation, X-linked, syndromic, wu type2 tests
Mental retardation, X-linked, with isolated growth hormone deficiency1 test
Mental retardation, anterior maxillary protrusion, and strabismus1 test
Mental retardation, autosomal dominant 12 tests
Mental retardation, autosomal dominant 101 test
Mental retardation, autosomal dominant 111 test
Mental retardation, autosomal dominant 131 test
Mental retardation, autosomal dominant 142 tests
Mental retardation, autosomal dominant 152 tests
Mental retardation, autosomal dominant 162 tests
Mental retardation, autosomal dominant 181 test
Mental retardation, autosomal dominant 191 test
Mental retardation, autosomal dominant 22 tests
Mental retardation, autosomal dominant 221 test
Mental retardation, autosomal dominant 231 test
Mental retardation, autosomal dominant 241 test
Mental retardation, autosomal dominant 271 test
Mental retardation, autosomal dominant 31 test
Mental retardation, autosomal dominant 381 test
Mental retardation, autosomal dominant 41 test
Mental retardation, autosomal dominant 411 test
Mental retardation, autosomal dominant 52 tests
Mental retardation, autosomal dominant 62 tests
Mental retardation, autosomal dominant 72 tests
Mental retardation, autosomal recessive 11 test
Mental retardation, autosomal recessive 122 tests
Mental retardation, autosomal recessive 131 test
Mental retardation, autosomal recessive 142 tests
Mental retardation, autosomal recessive 151 test
Mental retardation, autosomal recessive 182 tests
Mental retardation, autosomal recessive 22 tests
Mental retardation, autosomal recessive 272 tests
Mental retardation, autosomal recessive 32 tests
Mental retardation, autosomal recessive 341 test
Mental retardation, autosomal recessive 361 test
Mental retardation, autosomal recessive 372 tests
Mental retardation, autosomal recessive 382 tests
Mental retardation, autosomal recessive 392 tests
Mental retardation, autosomal recessive 401 test
Mental retardation, autosomal recessive 411 test
Mental retardation, autosomal recessive 422 tests
Mental retardation, autosomal recessive 462 tests
Mental retardation, autosomal recessive 491 test
Mental retardation, autosomal recessive 52 tests
Mental retardation, autosomal recessive 61 test
Mental retardation, autosomal recessive 71 test
Mental retardation, enteropathy, deafness, peripheral neuropathy, ichthyosis, and keratoderma2 tests
Mental retardation, stereotypic movements, epilepsy, and/or cerebral malformations4 tests
Mental retardation, syndromic 14, X-linked1 test
Mental retardation, syndromic, Claes-Jensen type, X-linked2 tests
Mental retardation, with or without seizures, ARX-related, X-linked2 tests
Meretoja syndrome1 test
Merosin deficient congenital muscular dystrophy4 tests
Mesoaxial synostotic syndactyly with phalangeal reduction1 test
Mesothelioma, malignant2 tests
Metabolic myopathy1 test
Metachondromatosis2 tests
Metachromatic leukodystrophy3 tests
Metaphyseal anadysplasia 22 tests
Metaphyseal chondrodysplasia, McKusick type4 tests
Metaphyseal dysplasia without hypotrichosis5 tests
Methylcobalamin deficiency type cblG3 tests
Methylmalonate semialdehyde dehydrogenase deficiency3 tests
Methylmalonic acidemia with homocystinuria cblD2 tests
Methylmalonic acidemia with homocystinuria, type cblJ4 tests
Methylmalonic aciduria and homocystinuria type cblF3 tests
Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency3 tests
Methylmalonic aciduria due to transcobalamin receptor defect4 tests
Mevalonic aciduria4 tests
Microcephalic osteodysplastic primordial dwarfism type II3 tests
Microcephaly and chorioretinopathy, autosomal recessive, 11 test
Microcephaly with mental retardation and digital anomalies3 tests
Microcephaly with or without chorioretinopathy, lymphedema, or mental retardation1 test
Microcephaly, epilepsy, and diabetes syndrome4 tests
Microcephaly, normal intelligence and immunodeficiency2 tests
Microcephaly, postnatal progressive, with seizures and brain atrophy1 test
Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy2 tests
Microcephaly, short stature, and polymicrogyria with or without seizures2 tests
Microcephaly-capillary malformation syndrome1 test
Microcytic anemia1 test
Microphthalmia with brain and digit anomalies3 tests
Microphthalmia, isolated 21 test
Microphthalmia, isolated 31 test
Microphthalmia, isolated 42 tests
Microphthalmia, isolated 51 test
Microphthalmia, isolated 62 tests
Microphthalmia, isolated 72 tests
Microphthalmia, isolated, with coloboma 32 tests
Microphthalmia, isolated, with coloboma 62 tests
Microphthalmia, isolated, with coloboma 91 test
Microphthalmia, syndromic 111 test
Microphthalmia-ankyloblepharon-intellectual disability syndrome1 test
Microspherophakia1 test
Microvascular complications of diabetes 11 test
Migraine1 test
Migraine, with or without aura 131 test
Miller Dieker syndrome1 test
Miller syndrome1 test
Minicore myopathy with external ophthalmoplegia2 tests
Mirror movements 12 tests
Mirror movements 31 test
Mitochondrial DNA depletion syndrome 1 (MNGIE type)4 tests
Mitochondrial DNA depletion syndrome 111 test
Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)1 test
Mitochondrial DNA depletion syndrome 22 tests
Mitochondrial DNA depletion syndrome 4B, MNGIE type2 tests
Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria)5 tests
Mitochondrial DNA depletion syndrome 9 (encephalomyopathic with methylmalonic aciduria)5 tests
Mitochondrial DNA depletion syndrome, encephalomyopathic form, with renal tubulopathy4 tests
Mitochondrial DNA-depletion syndrome 3, hepatocerebral2 tests
Mitochondrial complex I deficiency31 tests
Mitochondrial complex II deficiency, nuclear type 15 tests
Mitochondrial complex III deficiency, nuclear type 17 tests
Mitochondrial complex III deficiency, nuclear type 21 test
Mitochondrial complex III deficiency, nuclear type 34 tests
Mitochondrial complex III deficiency, nuclear type 52 tests
Mitochondrial complex III deficiency, nuclear type 74 tests
Mitochondrial complex IV deficiency5 tests
Mitochondrial complex v (atp synthase) deficiency, mitochondrial type 12 tests
Mitochondrial complex v (atp synthase) deficiency, nuclear type 41 test
Mitochondrial diseases8 tests
Mitochondrial encephalomyopathy6 tests
Mitochondrial myopathy2 tests
Mitochondrial myopathy, infantile, transient1 test
Mitochondrial pyruvate carrier deficiency3 tests
Mitochondrial short-chain enoyl-coa hydratase 1 deficiency1 test
Mitochondrial trifunctional protein deficiency4 tests
Miyoshi muscular dystrophy 12 tests
Miyoshi muscular dystrophy 31 test
Molybdenum cofactor deficiency, complementation group A3 tests
Molybdenum cofactor deficiency, complementation group B3 tests
Molybdenum cofactor deficiency, complementation group C2 tests
Monocarboxylate transporter 1 deficiency3 tests
Mosaic variegated aneuploidy syndrome 21 test
Mowat-Wilson syndrome3 tests
Moyamoya disease 21 test
Moyamoya disease 6 with achalasia1 test
Mucolipidosis III alpha/beta, atypical1 test
Mucolipidosis type II2 tests
Mucolipidosis type III gamma1 test
Mucolipidosis type IV1 test
Mucopolysaccharidosis1 test
Mucopolysaccharidosis type 63 tests
Mucopolysaccharidosis type 73 tests
Mucopolysaccharidosis, MPS-I-H/S2 tests
Mucopolysaccharidosis, MPS-I-S1 test
Mucopolysaccharidosis, MPS-II1 test
Mucopolysaccharidosis, MPS-III-A1 test
Mucopolysaccharidosis, MPS-III-B1 test
Mucopolysaccharidosis, MPS-III-C1 test
Mucopolysaccharidosis, MPS-III-D1 test
Mucopolysaccharidosis, MPS-IV-A3 tests
Mucopolysaccharidosis, MPS-IV-B3 tests
Muenke syndrome1 test
Muir-Torré syndrome1 test
Mulibrey nanism syndrome1 test
Multicentric carpo-tarsal osteolysis with or without nephropathy1 test
Multicentric osteolysis, nodulosis and arthropathy2 tests
Multiple acyl-CoA dehydrogenase deficiency6 tests
Multiple congenital anomalies-hypotonia-seizures syndrome 11 test
Multiple congenital anomalies-hypotonia-seizures syndrome 22 tests
Multiple congenital anomalies-hypotonia-seizures syndrome 31 test
Multiple congenital exostosis1 test
Multiple endocrine neoplasia, type 11 test
Multiple endocrine neoplasia, type 2a4 tests
Multiple endocrine neoplasia, type 2b4 tests
Multiple endocrine neoplasia, type 41 test
Multiple epiphyseal dysplasia 12 tests
Multiple epiphyseal dysplasia type 42 tests
Multiple exostoses type 21 test
Multiple fibrofolliculomas2 tests
Multiple gastrointestinal atresias1 test
Multiple joint dislocations, short stature, craniofacial dysmorphism, and congenital heart defects1 test
Multiple mitochondrial dysfunctions syndrome 14 tests
Multiple mitochondrial dysfunctions syndrome 22 tests
Multiple mitochondrial dysfunctions syndrome 31 test
Multiple mitochondrial dysfunctions syndrome 41 test
Multiple myeloma1 test
Multiple sulfatase deficiency3 tests
Multiple system atrophy2 tests
Muscle AMP deaminase deficiency2 tests
Muscle eye brain disease2 tests
Muscular dystrophy, congenital, due to integrin alpha-7 deficiency1 test
Muscular dystrophy, limb-girdle, type 2W1 test
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 18 tests
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 101 test
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 111 test
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 122 tests
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 131 test
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 141 test
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 82 tests
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 91 test
Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type b, 141 test
Muscular dystrophy-dystroglycanopathy (limb-girdle), type c, 122 tests
Muscular dystrophy-dystroglycanopathy (limb-girdle), type c, 141 test
Muscular dystrophy-dystroglycanopathy (limb-girdle), type c, 71 test
Mutilating keratoderma3 tests
Myasthenia, limb-girdle, familial2 tests
Myasthenic syndrome, congenital, 141 test
Myasthenic syndrome, congenital, 81 test
Myasthenic syndrome, slow-channel congenital2 tests
Myd88 deficiency1 test
Myelodysplastic syndrome4 tests
Myelofibrosis6 tests
Myeloproliferative disorder, chronic, with eosinophilia1 test
Myocardial infarction 12 tests
Myoclonic dystonia 114 tests
Myoclonic epilepsy, familial infantile2 tests
Myoclonic-atonic epilepsy1 test
Myoclonus, familial 12 tests
Myofibrillar myopathy1 test
Myofibrillar myopathy 12 tests
Myofibrillar myopathy 33 tests
Myofibrillar myopathy, BAG3-related2 tests
Myofibrillar myopathy, ZASP-related2 tests
Myofibrillar myopathy, filamin C-related2 tests
Myoglobinuria, acute recurrent, autosomal recessive2 tests
Myopathy with lactic acidosis, hereditary1 test
Myopathy with postural muscle atrophy, X-linked1 test
Myopathy, areflexia, respiratory distress, and dysphagia, early-onset1 test
Myopathy, centronuclear, 14 tests
Myopathy, centronuclear, 21 test
Myopathy, centronuclear, 32 tests
Myopathy, centronuclear, 42 tests
Myopathy, congenital, compton-north2 tests
Myopathy, distal, 12 tests
Myopathy, distal, 42 tests
Myopathy, distal, with anterior tibial onset2 tests
Myopathy, early-onset, with fatal cardiomyopathy2 tests
Myopathy, isolated mitochondrial, autosomal dominant1 test
Myopathy, lactic acidosis, and sideroblastic anemia 13 tests
Myopathy, lactic acidosis, and sideroblastic anemia 22 tests
Myopathy, mitochondrial progressive, with congenital cataract, hearing loss, and developmental delay2 tests
Myopathy, myofibrillar, 9, with early respiratory failure2 tests
Myopathy, tubular aggregate, 12 tests
Myopathy, tubular aggregate, 21 test
Myopia, high, with cataract and vitreoretinal degeneration1 test
Myosclerosis, autosomal recessive1 test
Myosin storage myopathy1 test
Myostatin-related muscle hypertrophy1 test
Myotonic dystrophy type 22 tests
N-acetylaspartate deficiency1 test
N-terminal acetyltransferase deficiency3 tests
Nadh-cytochrome b5 reductase deficiency, type I1 test
Nager syndrome1 test
Nail disorder, nonsyndromic congenital, 82 tests
Nail-patella syndrome1 test
Nanophthalmos 21 test
Narcolepsy 11 test
Nasopharyngeal carcinoma2 tests
Natural killer cell and glucocorticoid deficiency with DNA repair defect3 tests
Navajo neurohepatopathy2 tests
Naxos disease1 test
Nemaline myopathy 12 tests
Nemaline myopathy 21 test
Nemaline myopathy 32 tests
Nemaline myopathy 42 tests
Nemaline myopathy 52 tests
Nemaline myopathy 62 tests
Nemaline myopathy 72 tests
Neonatal alloimmune thrombocytopenia1 test
Neonatal ichthyosis-sclerosing cholangitis syndrome1 test
Neonatal intrahepatic cholestasis caused by citrin deficiency2 tests
Neonatal severe hyperparathyroidism2 tests
Neoplasm of ovary4 tests
Neoplasm of stomach7 tests
Nephrogenic diabetes insipidus, X-linked1 test
Nephrogenic diabetes insipidus, autosomal1 test
Nephrogenic syndrome of inappropriate antidiuresis1 test
Nephrolithiasis/osteoporosis, hypophosphatemic, 11 test
Nephrolithiasis/osteoporosis, hypophosphatemic, 21 test
Nephronophthisis1 test
Nephronophthisis 11 test
Nephronophthisis 121 test
Nephronophthisis 143 tests
Nephronophthisis 151 test
Nephronophthisis 161 test
Nephronophthisis 191 test
Nephronophthisis 31 test
Nephronophthisis 41 test
Nephronophthisis 71 test
Nephronophthisis 91 test
Nephronophthisis-like nephropathy 11 test
Nephropathic cystinosis3 tests
Nephrotic syndrome1 test
Nephrotic syndrome, type 42 tests
Nephrotic syndrome, type 5, with or without ocular abnormalities1 test
Nephrotic syndrome, type 71 test
Nephrotic syndrome, type 81 test
Nephrotic syndrome, type 91 test
Netherton syndrome1 test
Neu-Laxova syndrome 12 tests
Neu-laxova syndrome 22 tests
Neural tube defect1 test
Neural tube defects, folate-sensitive3 tests
Neuroblastoma1 test
Neuroblastoma 22 tests
Neuroblastoma 33 tests
Neurocutaneous melanocytosis1 test
Neurodegeneration with brain iron accumulation1 test
Neurodegeneration with brain iron accumulation 42 tests
Neurodegeneration with brain iron accumulation 51 test
Neurodegeneration with brain iron accumulation 63 tests
Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant2 tests
Neurodevelopmental disorder, MTOR related1 test
Neuroferritinopathy1 test
Neurofibromatosis, type 14 tests
Neurofibromatosis, type 22 tests
Neurogenic scapuloperoneal syndrome, Kaeser type1 test
Neurohypophyseal diabetes insipidus1 test
Neuronal ceroid lipofuscinosis 11 test
Neuronal ceroid lipofuscinosis 103 tests
Neuronal ceroid lipofuscinosis 31 test
Neuronal ceroid lipofuscinosis 4B1 test
Neuronal ceroid lipofuscinosis 51 test
Neuronal ceroid lipofuscinosis 61 test
Neuronal ceroid lipofuscinosis 71 test
Neuronal ceroid lipofuscinosis 81 test
Neuronopathy, distal hereditary motor, type viia1 test
Neuropathy, hereditary motor and sensory, Russe type1 test
Neuropathy, hereditary sensory and autonomic, type VI1 test
Neuropathy, hereditary sensory and autonomic, type VIII1 test
Neuropathy, hereditary sensory, with spastic paraplegia, autosomal recessive2 tests
Neutral 1 amino acid transport defect1 test
Neutral lipid storage myopathy2 tests
Neutropenia, nonimmune chronic idiopathic, of adults1 test
Neutropenia, severe congenital 1, autosomal dominant3 tests
Neutrophil immunodeficiency syndrome5 tests
Nicolaides-Baraitser syndrome1 test
Niemann-Pick disease type C13 tests
Niemann-Pick disease, type A3 tests
Niemann-Pick disease, type B2 tests
Niemann-Pick disease, type C23 tests
Non-acquired combined pituitary hormone deficiency with spine abnormalities3 tests
Non-ketotic hyperglycinemia6 tests
Non-small cell lung cancer3 tests
Non-syndromic X-linked intellectual disability1 test
Non-syndromic intellectual disability1 test
Nonarteritic anterior ischemic optic neuropathy, susceptibility to3 tests
Nonpersistence of intestinal lactase1 test
Nonsyndromic Hearing Loss and Deafness, Autosomal Recessive1 test
Nonsyndromic microcephaly1 test
Noonan syndrome 13 tests
Noonan syndrome 101 test
Noonan syndrome 33 tests
Noonan syndrome 43 tests
Noonan syndrome 53 tests
Noonan syndrome 63 tests
Noonan syndrome 74 tests
Noonan syndrome-like disorder with loose anagen hair 13 tests
Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia1 test
Norman-Roberts syndrome1 test
Nuclearly-encoded mitochondrial complex V (ATP synthase) deficiency 13 tests
Nuclearly-encoded mitochondrial complex V (ATP synthase) deficiency 22 tests
Nuclearly-encoded mitochondrial complex V (ATP synthase) deficiency 32 tests
Nystagmus 6, congenital, X-linked1 test
Obesity5 tests
Obesity, hyperphagia, and developmental delay1 test
Occult macular dystrophy1 test
Ocular albinism, type I1 test
Ocular albinism, type II1 test
Ocular cystinosis2 tests
Oculocutaneous albinism type 1B1 test
Oculocutaneous albinism type 31 test
Oculocutaneous albinism type 41 test
Oculodentodigital dysplasia1 test
Oculofaciocardiodental syndrome1 test
Oculootoradial syndrome2 tests
Oculopharyngeal muscular dystrophy1 test
Odonto-onycho-dermal dysplasia1 test
Oguchi disease1 test
Oguchi disease 21 test
Olmsted syndrome 12 tests
Oocyte maturation defect 11 test
Opitz GBBB syndrome, type I2 tests
Opsismodysplasia1 test
Optic atrophy 34 tests
Optic atrophy 71 test
Optic atrophy 91 test
Ornithine aminotransferase deficiency2 tests
Ornithine carbamoyltransferase deficiency3 tests
Orofacial cleft 102 tests
Orofacial cleft 112 tests
Orofacial cleft 52 tests
Orofacial cleft 6, susceptibility to2 tests
Orofaciodigital syndrome I1 test
Orofaciodigital syndrome xiv1 test
Orotic aciduria3 tests
Orthostatic hypotension 11 test
Orthostatic intolerance1 test
Osteodysplastic primordial dwarfism, type 11 test
Osteogenesis imperfecta1 test
Osteogenesis imperfecta type 101 test
Osteogenesis imperfecta type 122 tests
Osteogenesis imperfecta type 51 test
Osteogenesis imperfecta type 73 tests
Osteogenesis imperfecta type 83 tests
Osteogenesis imperfecta type 91 test
Osteogenesis imperfecta type I3 tests
Osteogenesis imperfecta type III2 tests
Osteogenesis imperfecta with normal sclerae, dominant form2 tests
Osteogenesis imperfecta, recessive perinatal lethal3 tests
Osteogenesis imperfecta, type VI1 test
Osteogenesis imperfecta, type xiii1 test
Osteogenesis imperfecta, type xiv1 test
Osteoglophonic dysplasia2 tests
Osteomyelitis, sterile multifocal, with periostitis and pustulosis1 test
Osteopathia striata with cranial sclerosis1 test
Osteopetrosis with renal tubular acidosis1 test
Osteopetrosis, autosomal recessive 51 test
Osteoporosis with pseudoglioma1 test
Oto-palato-digital syndrome, type I1 test
Oto-palato-digital syndrome, type II1 test
Otofaciocervical syndrome 14 tests
Otospondylomegaepiphyseal dysplasia, autosomal dominant1 test
Otospondylomegaepiphyseal dysplasia, autosomal recessive1 test
Ovalocytosis, southeast Asian3 tests
Ovarian dysgenesis 11 test
Ovarian dysgenesis 21 test
Oxoglutaricaciduria3 tests
PTEN hamartoma tumor syndrome5 tests
Pachyonychia congenita 12 tests
Pachyonychia congenita 21 test
Pachyonychia congenita 41 test
Paget disease of bone 2, early-onset1 test
Pallister-Hall syndrome1 test
Palmoplantar keratoderma, nonepidermolytic, focal 11 test
Palmoplantar keratoderma, punctate type 1A1 test
Palmoplantar keratoderma-deafness syndrome4 tests
Palmoplantar keratoderma-esophageal carcinoma syndrome2 tests
Pancreatic agenesis 12 tests
Pancreatic agenesis 23 tests
Pancreatic agenesis and congenital heart disease2 tests
Pancreatic cancer 21 test
Pancreatic cancer 32 tests
Pancreatic cancer 42 tests
Pancreatitis, chronic, susceptibility to1 test
Panhypopituitarism, X-linked1 test
Panic disorder 12 tests
Papillon-Lefèvre syndrome1 test
Paragangliomas 41 test
Paramyotonia congenita of von Eulenburg1 test
Parietal foramina 11 test
Parietal foramina 22 tests
Parkes Weber syndrome1 test
Parkinson disease 13 tests
Parkinson disease 112 tests
Parkinson disease 133 tests
Parkinson disease 143 tests
Parkinson disease 153 tests
Parkinson disease 173 tests
Parkinson disease 181 test
Parkinson disease 19a, juvenile-onset3 tests
Parkinson disease 23 tests
Parkinson disease 20, early-onset3 tests
Parkinson disease 212 tests
Parkinson disease 41 test
Parkinson disease 53 tests
Parkinson disease 61 test
Parkinson disease 6, autosomal recessive early-onset4 tests
Parkinson disease 73 tests
Parkinson disease 8, autosomal dominant3 tests
Parkinson disease, autosomal recessive early-onset, digenic, PINK1/DJ11 test
Parkinson disease, late-onset2 tests
Parkinson disease, mitochondrial1 test
Parkinsonism with spasticity, X-linked1 test
Parkinsonism-dystonia, infantile, 13 tests
Paroxysmal familial ventricular fibrillation 11 test
Paroxysmal nonkinesigenic dyskinesia 13 tests
Paroxysmal nonkinesigenic dyskinesia, 3, with or without generalized epilepsy2 tests
Partial albinism1 test
Partial hypoxanthine-guanine phosphoribosyltransferase deficiency2 tests
Partington syndrome2 tests
Peeling skin syndrome 13 tests
Peeling skin syndrome 22 tests
Peeling skin syndrome 31 test
Peeling skin syndrome 42 tests
Pelizaeus-Merzbacher disease2 tests
Pelvic organ prolapse, susceptibility to1 test
Pelviscapular dysplasia1 test
Pena-Shokeir syndrome type I2 tests
Pendred syndrome2 tests
Peripheral demyelinating neuropathy, central dysmyelination, Waardenburg syndrome, and Hirschsprung disease2 tests
Periventricular nodular heterotopia 12 tests
Periventricular nodular heterotopia 71 test
Perlman syndrome1 test
Permanent neonatal diabetes mellitus5 tests
Peroxisomal acyl-CoA oxidase deficiency4 tests
Peroxisome biogenesis disorder 10A1 test
Peroxisome biogenesis disorder 11A1 test
Peroxisome biogenesis disorder 11B1 test
Peroxisome biogenesis disorder 12A1 test
Peroxisome biogenesis disorder 13A1 test
Peroxisome biogenesis disorder 14B2 tests
Peroxisome biogenesis disorder 1A (Zellweger)14 tests
Peroxisome biogenesis disorder 2A (Zellweger)1 test
Peroxisome biogenesis disorder 2B1 test
Peroxisome biogenesis disorder 3A1 test
Peroxisome biogenesis disorder 4B1 test
Peroxisome biogenesis disorder 4a (zellweger)1 test
Peroxisome biogenesis disorder 5B1 test
Peroxisome biogenesis disorder 5a (zellweger)1 test
Peroxisome biogenesis disorder 6A1 test
Peroxisome biogenesis disorder 6B1 test
Peroxisome biogenesis disorder 7A1 test
Peroxisome biogenesis disorder 7B1 test
Peroxisome biogenesis disorder 8A1 test
Peroxisome biogenesis disorder 8B1 test
Peroxisome biogenesis disorder type 3B1 test
Perrault syndrome 14 tests
Perry syndrome1 test
Persistent Mullerian duct syndrome2 tests
Persistent hyperplastic primary vitreous, autosomal recessive1 test
Peters plus syndrome2 tests
Pettigrew syndrome1 test
Peutz-Jeghers syndrome4 tests
Pfeiffer syndrome6 tests
Phenylketonuria3 tests
Pheochromocytoma12 tests
Phosphate transport defect2 tests
Phosphoenolpyruvate carboxykinase deficiency, cytosolic3 tests
Phosphoenolpyruvate carboxykinase deficiency, mitochondrial1 test
Phosphoglycerate dehydrogenase deficiency3 tests
Phosphoglycerate kinase 1 deficiency2 tests
Phosphoribosylpyrophosphate synthetase superactivity3 tests
Phosphoserine aminotransferase deficiency3 tests
Phytanic acid storage disease3 tests
Pick disease2 tests
Pierpont syndrome1 test
Pigmentary pallidal degeneration2 tests
Pigmentary retinal dystrophy3 tests
Pili torti-deafness syndrome3 tests
Pilomatrixoma4 tests
Pineal hyperplasia AND diabetes mellitus syndrome2 tests
Pitt-Hopkins syndrome4 tests
Pitt-Hopkins-like syndrome 12 tests
Pituitary hormone deficiency, combined 23 tests
Pituitary hormone deficiency, combined, 13 tests
Pityriasis rubra pilaris1 test
Plasminogen deficiency, type I1 test
Platelet aggregation, spontaneous1 test
Platelet glycoprotein IV deficiency1 test
Platelet-type bleeding disorder 153 tests
Platelet-type bleeding disorder 162 tests
Platelet-type bleeding disorder 173 tests
Platelet-type bleeding disorder 83 tests
Platelet-type bleeding disorder 91 test
Pleuropulmonary blastoma1 test
Pneumothorax, primary spontaneous2 tests
Poikiloderma with neutropenia1 test
Polyarteritis nodosa, childhoood-onset1 test
Polycystic kidney disease 24 tests
Polycystic kidney disease, adult type2 tests
Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 13 tests
Polycystic liver disease 11 test
Polycystic ovaries2 tests
Polycythemia vera2 tests
Polyglandular autoimmune syndrome, type 11 test
Polyglucosan body myopathy 1 with or without immunodeficiency1 test
Polyhydramnios, megalencephaly, and symptomatic epilepsy1 test
Polymicrogyria with optic nerve hypoplasia1 test
Polymicrogyria, asymmetric1 test
Polymicrogyria, bilateral frontoparietal2 tests
Polymicrogyria, bilateral perisylvian, autosomal recessive1 test
Polymicrogyria, bilateral temporooccipital1 test
Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis1 test
Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract1 test
Pontocerebellar hypoplasia type 1A2 tests
Pontocerebellar hypoplasia type 2A2 tests
Pontocerebellar hypoplasia type 2B2 tests
Pontocerebellar hypoplasia type 2C2 tests
Pontocerebellar hypoplasia type 2D2 tests
Pontocerebellar hypoplasia type 41 test
Pontocerebellar hypoplasia type 62 tests
Pontocerebellar hypoplasia type 82 tests
Pontocerebellar hypoplasia, type 101 test
Pontocerebellar hypoplasia, type 1b2 tests
Pontocerebellar hypoplasia, type 2e1 test
Pontocerebellar hypoplasia, type 92 tests
Pontoneocerebellar hypoplasia1 test
Popliteal pterygium syndrome2 tests
Porencephaly 22 tests
Poretti-Boltshauser syndrome1 test
Porokeratosis 3, disseminated superficial actinic type3 tests
Porphobilinogen synthase deficiency1 test
Porphyria cutanea tarda1 test
Porphyria, acute intermittent, nonerythroid variant1 test
Posterior column ataxia-retinitis pigmentosa syndrome3 tests
Posterior polymorphous corneal dystrophy 11 test
Potassium-aggravated myotonia2 tests
Prader-Willi syndrome2 tests
Preeclampsia/eclampsia 51 test
Pregnancy loss, recurrent, susceptibility to, 11 test
Premature ovarian failure 11 test
Pretibial epidermolysis bullosa3 tests
Primary aldosteronism, seizures, and neurologic abnormalities4 tests
Primary autosomal recessive microcephaly2 tests
Primary autosomal recessive microcephaly 13 tests
Primary autosomal recessive microcephaly 101 test
Primary autosomal recessive microcephaly 111 test
Primary autosomal recessive microcephaly 131 test
Primary autosomal recessive microcephaly 24 tests
Primary autosomal recessive microcephaly 33 tests
Primary autosomal recessive microcephaly 43 tests
Primary autosomal recessive microcephaly 53 tests
Primary autosomal recessive microcephaly 64 tests
Primary autosomal recessive microcephaly 73 tests
Primary autosomal recessive microcephaly 81 test
Primary autosomal recessive microcephaly 93 tests
Primary ciliary dyskinesia 231 test
Primary ciliary dyskinesia 242 tests
Primary ciliary dyskinesia 251 test
Primary dilated cardiomyopathy1 test
Primary erythromelalgia1 test
Primary familial polycythemia due to EPO receptor mutation2 tests
Primary hyperoxaluria, type I3 tests
Primary hyperoxaluria, type II1 test
Primary hypertrophic osteoarthropathy, autosomal recessive 21 test
Primary hypomagnesemia1 test
Primary localized cutaneous amyloidosis 11 test
Primary pulmonary hypertension 11 test
Primary pulmonary hypertension 21 test
Progressive external ophthalmoplegia1 test
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 63 tests
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 14 tests
Progressive familial heart block type IB1 test
Progressive familial heart block, type 1A1 test
Progressive familial intrahepatic cholestasis 21 test
Progressive familial intrahepatic cholestasis 31 test
Progressive familial intrahepatic cholestasis 42 tests
Progressive myositis ossificans1 test
Progressive osseous heteroplasia3 tests
Progressive pseudorheumatoid dysplasia1 test
Progressive sclerosing poliodystrophy4 tests
Prolidase deficiency3 tests
Proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome1 test
Proline dehydrogenase deficiency3 tests
Proopiomelanocortin deficiency3 tests
Propionic acidemia4 tests
Proprotein convertase 1/3 deficiency1 test
Prostate cancer, hereditary, 11 test
Prostate cancer, hereditary, 21 test
Proteasome-associated autoinflammatory syndrome 11 test
Prothrombin deficiency, congenital2 tests
Protoporphyria, erythropoietic, X-linked3 tests
Proximal renal tubular acidosis1 test
Prune belly syndrome1 test
Pseudo von Willebrand disease3 tests
Pseudo-Hurler polydystrophy2 tests
Pseudo-TORCH syndrome 11 test
Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome3 tests
Pseudoexfoliation glaucoma1 test
Pseudohypoaldosteronism type 2B1 test
Pseudohypoaldosteronism type 2C2 tests
Pseudohypoaldosteronism type 2D1 test
Pseudohypoaldosteronism type 2E1 test
Pseudohypoparathyroidism3 tests
Pseudohypoparathyroidism type 1B3 tests
Pseudohypoparathyroidism type 1C3 tests
Pseudopseudohypoparathyroidism3 tests
Pseudoxanthoma elasticum1 test
Pseudoxanthoma elasticum, forme fruste1 test
Psoriasiform dermatitis1 test
Psoriasis 11, susceptibility to1 test
Psoriasis susceptibility 21 test
Psychomotor retardation, epilepsy, and craniofacial dysmorphism1 test
Ptosis, hereditary congenital 11 test
Pulmonary fibrosis and/or bone marrow failure, telomere-related, 11 test
Pulmonary fibrosis and/or bone marrow failure, telomere-related, 41 test
Pulmonary hypertension, neonatal, susceptibility to2 tests
Pulmonary surfactant metabolism dysfunction2 tests
Pulmonary venoocclusive disease 1, autosomal dominant2 tests
Pulmonary venoocclusive disease 2, autosomal recessive1 test
Purine-nucleoside phosphorylase deficiency5 tests
Pustular psoriasis, generalized1 test
Pyknodysostosis1 test
Pyogenic arthritis-pyoderma gangrenosum-acne syndrome1 test
Pyridoxal phosphate-responsive seizures3 tests
Pyridoxine-dependent epilepsy4 tests
Pyruvate carboxylase deficiency6 tests
Pyruvate dehydrogenase E1-alpha deficiency5 tests
Pyruvate dehydrogenase E1-beta deficiency3 tests
Pyruvate dehydrogenase E2 deficiency3 tests
Pyruvate dehydrogenase E3-binding protein deficiency3 tests
Pyruvate dehydrogenase lipoic acid synthetase deficiency3 tests
Pyruvate dehydrogenase phosphatase deficiency3 tests
Pyruvate kinase deficiency of red cells3 tests
RAS-associated autoimmune leukoproliferative disorder3 tests
Radial aplasia-thrombocytopenia syndrome3 tests
Rapadilino syndrome1 test
Rapp-Hodgkin ectodermal dysplasia syndrome2 tests
Recessive dystrophic epidermolysis bullosa3 tests
Reis-Bucklers' corneal dystrophy1 test
Renal carnitine transport defect3 tests
Renal cell carcinoma, nonpapillary5 tests
Renal cell carcinoma, papillary, 14 tests
Renal coloboma syndrome3 tests
Renal cysts and diabetes syndrome2 tests
Renal dysplasia3 tests
Renal dysplasia, cystic, susceptibility to2 tests
Renal hypodysplasia/aplasia 13 tests
Renal hypomagnesemia 21 test
Renal hypoplasia, isolated1 test
Renal hypouricemia 22 tests
Renal tubular acidosis with progressive nerve deafness3 tests
Renal tubular acidosis, distal, autosomal recessive1 test
Renal tubular acidosis, distal, with hemolytic anemia2 tests
Renal tubular acidosis, proximal, with ocular abnormalities and mental retardation1 test
Renpenning syndrome 12 tests
Reticular dysgenesis3 tests
Retinal cone dystrophy 41 test
Retinal dystrophy with inner retinal dysfunction and ganglion cell abnormalities1 test
Retinal dystrophy, early-onset severe1 test
Retinal macular dystrophy type 21 test
Retinitis pigmentosa 12 tests
Retinitis pigmentosa 101 test
Retinitis pigmentosa 111 test
Retinitis pigmentosa 121 test
Retinitis pigmentosa 131 test
Retinitis pigmentosa 141 test
Retinitis pigmentosa 151 test
Retinitis pigmentosa 171 test
Retinitis pigmentosa 181 test
Retinitis pigmentosa 193 tests
Retinitis pigmentosa 21 test
Retinitis pigmentosa 201 test
Retinitis pigmentosa 231 test
Retinitis pigmentosa 251 test
Retinitis pigmentosa 261 test
Retinitis pigmentosa 271 test
Retinitis pigmentosa 281 test
Retinitis pigmentosa 301 test
Retinitis pigmentosa 311 test
Retinitis pigmentosa 331 test
Retinitis pigmentosa 351 test
Retinitis pigmentosa 361 test
Retinitis pigmentosa 371 test
Retinitis pigmentosa 381 test
Retinitis pigmentosa 391 test
Retinitis pigmentosa 41 test
Retinitis pigmentosa 401 test
Retinitis pigmentosa 411 test
Retinitis pigmentosa 421 test
Retinitis pigmentosa 431 test
Retinitis pigmentosa 441 test
Retinitis pigmentosa 451 test
Retinitis pigmentosa 461 test
Retinitis pigmentosa 471 test
Retinitis pigmentosa 481 test
Retinitis pigmentosa 491 test
Retinitis pigmentosa 501 test
Retinitis pigmentosa 511 test
Retinitis pigmentosa 541 test
Retinitis pigmentosa 551 test
Retinitis pigmentosa 561 test
Retinitis pigmentosa 571 test
Retinitis pigmentosa 581 test
Retinitis pigmentosa 591 test
Retinitis pigmentosa 601 test
Retinitis pigmentosa 611 test
Retinitis pigmentosa 621 test
Retinitis pigmentosa 641 test
Retinitis pigmentosa 661 test
Retinitis pigmentosa 73 tests
Retinitis pigmentosa 91 test
Retinoblastoma5 tests
Rett syndrome3 tests
Rett syndrome, congenital variant3 tests
Revesz syndrome1 test
Rhabdoid tumor predisposition syndrome 13 tests
Rhizomelic chondrodysplasia punctata type 21 test
Rhizomelic chondrodysplasia punctata type 31 test
Rigidity and multifocal seizure syndrome, lethal neonatal1 test
Rippling muscle disease 23 tests
Roberts-SC phocomelia syndrome2 tests
Robinow syndrome, autosomal dominant 11 test
Robinow syndrome, autosomal dominant 21 test
Robinow syndrome, autosomal recessive1 test
Rolandic epilepsy with mental retardation and speech dyspraxia, X-linked2 tests
Rothmund-Thomson syndrome2 tests
Rotor syndrome4 tests
Roussy-Lévy syndrome3 tests
Rubinstein-Taybi syndrome 13 tests
Rubinstein-Taybi syndrome 21 test
SERKAL syndrome2 tests
SHORT syndrome1 test
SLC35A2-CDG1 test
SUDDEN INFANT DEATH SYNDROME1 test
Saccharopinuria3 tests
Saethre-Chotzen syndrome4 tests
Salla disease2 tests
Sandhoff disease4 tests
Sarcosine dehydrogenase deficiency1 test
Sarcotubular myopathy1 test
Scaphocephaly, maxillary retrusion, and mental retardation3 tests
Schaaf-Yang syndrome2 tests
Schimke immuno-osseous dysplasia1 test
Schinzel phocomelia syndrome1 test
Schinzel-Giedion syndrome1 test
Schizencephaly1 test
Schizophrenia2 tests
Schizophrenia 151 test
Schuurs-hoeijmakers syndrome1 test
Schwartz-Jampel syndrome2 tests
Seckel syndrome 14 tests
Seckel syndrome 23 tests
Seckel syndrome 44 tests
Seckel syndrome 54 tests
Seckel syndrome 63 tests
Seckel syndrome 71 test
Seckel syndrome 82 tests
Secondary hypothyroidism3 tests
Seizures, benign familial infantile, 34 tests
Selective tooth agenesis 12 tests
Sengers syndrome1 test
Senior-Loken syndrome 51 test
Senior-Loken syndrome 62 tests
Senior-Loken syndrome 71 test
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis4 tests
Septo-optic dysplasia sequence3 tests
Severe X-linked myotubular myopathy2 tests
Severe autosomal recessive muscular dystrophy of childhood - North African type1 test
Severe combined immunodeficiency disease3 tests
Severe combined immunodeficiency due to ADA deficiency5 tests
Severe combined immunodeficiency due to DCLRE1C deficiency4 tests
Severe combined immunodeficiency due to IL2 deficiency1 test
Severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing radiation5 tests
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive4 tests
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-negative4 tests
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive6 tests
Severe congenital neutropenia 2, autosomal dominant1 test
Severe congenital neutropenia 4, autosomal recessive1 test
Severe congenital neutropenia 5, autosomal recessive1 test
Severe congenital neutropenia 6, autosomal recessive3 tests
Severe myoclonic epilepsy in infancy7 tests
Severe neonatal-onset encephalopathy with microcephaly3 tests
Short QT syndrome 13 tests
Short QT syndrome 23 tests
Short QT syndrome 31 test
Short rib-polydactyly syndrome, Majewski type1 test
Short stature, idiopathic, X-linked1 test
Short stature, microcephaly, and endocrine dysfunction1 test
Short stature, optic nerve atrophy, and Pelger-Huet anomaly1 test
Short stature-pituitary and cerebellar defects-small sella turcica syndrome3 tests
Shprintzen syndrome1 test
Shprintzen-Goldberg syndrome2 tests
Shwachman-Diamond syndrome 13 tests
Sialidosis type 22 tests
Sialidosis type I2 tests
Sialuria2 tests
Sick sinus syndrome 1, autosomal recessive1 test
Sick sinus syndrome 3, susceptibility to1 test
Sideroblastic anemia 3, pyridoxine-refractory1 test
Sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay2 tests
Silver-Russell syndrome due to an imprinting defect of 11p151 test
Simpson-Golabi-Behmel syndrome type 14 tests
Sinoatrial node dysfunction and deafness3 tests
Sjögren-Larsson syndrome4 tests
Skeletal defects, genital hypoplasia, and mental retardation1 test
Skin fragility-woolly hair-palmoplantar keratoderma syndrome1 test
Skin/hair/eye pigmentation, variation in, 42 tests
Skin/hair/eye pigmentation, variation in, 61 test
Sleep-wake schedule disorder, delayed phase type1 test
Slowed nerve conduction velocity, autosomal dominant2 tests
Small cell lung carcinoma2 tests
Small fiber neuropathy1 test
Smith-Lemli-Opitz syndrome3 tests
Smith-Magenis syndrome2 tests
Smith-McCort dysplasia 11 test
Somatotroph adenoma5 tests
Sorsby fundus dystrophy1 test
Sotos syndrome 13 tests
Spastic ataxia 5, autosomal recessive1 test
Spastic paraplegia 11, autosomal recessive2 tests
Spastic paraplegia 172 tests
Spastic paraplegia 28, autosomal recessive1 test
Spastic paraplegia 30, autosomal recessive2 tests
Spastic paraplegia 31, autosomal dominant2 tests
Spastic paraplegia 33, autosomal dominant2 tests
Spastic paraplegia 353 tests
Spastic paraplegia 4, autosomal dominant2 tests
Spastic paraplegia 42, autosomal dominant2 tests
Spastic paraplegia 44, autosomal recessive2 tests
Spastic paraplegia 45, autosomal recessive2 tests
Spastic paraplegia 46, autosomal recessive2 tests
Spastic paraplegia 47, autosomal recessive2 tests
Spastic paraplegia 48, autosomal recessive2 tests
Spastic paraplegia 49, autosomal recessive2 tests
Spastic paraplegia 50, autosomal recessive3 tests
Spastic paraplegia 51, autosomal recessive2 tests
Spastic paraplegia 52, autosomal recessive2 tests
Spastic paraplegia 53, autosomal recessive1 test
Spastic paraplegia 54, autosomal recessive2 tests
Spastic paraplegia 55, autosomal recessive2 tests
Spastic paraplegia 56, autosomal recessive2 tests
Spastic paraplegia 57, autosomal recessive2 tests
Spastic paraplegia 591 test
Spastic paraplegia 601 test
Spastic paraplegia 61, autosomal recessive1 test
Spastic paraplegia 62, autosomal recessive1 test
Spastic paraplegia 63, autosomal recessive2 tests
Spastic paraplegia 64, autosomal recessive1 test
Spastic paraplegia 681 test
Spastic paraplegia 711 test
Spastic paraplegia 72, autosomal recessive2 tests
Spastic paraplegia 73, autosomal dominant1 test
Spastic paraplegia 75, autosomal recessive1 test
Speech-language disorder 11 test
Spermatogenic failure 41 test
Spermatogenic failure 72 tests
Spermatogenic failure 81 test
Spermatogenic failure 91 test
Spherocytosis1 test
Spherocytosis type 13 tests
Spherocytosis type 24 tests
Spherocytosis type 33 tests
Spherocytosis type 53 tests
Spheroid body myopathy1 test
Sphingolipid activator protein 1 deficiency4 tests
Spinal muscular atrophy, distal, autosomal recessive, 12 tests
Spinal muscular atrophy, distal, autosomal recessive, 52 tests
Spinal muscular atrophy, jokela type1 test
Spinal muscular atrophy, lower extremity predominant 1, autosomal dominant1 test
Spinal muscular atrophy, lower extremity-predominant, 2A, autosomal dominant2 tests
Spinal muscular atrophy-progressive myoclonic epilepsy syndrome1 test
Spinocerebellar Ataxia Type 152 tests
Spinocerebellar ataxia 352 tests
Spinocerebellar ataxia 361 test
Spinocerebellar ataxia 381 test
Spinocerebellar ataxia 71 test
Spinocerebellar ataxia type 11 test
Spinocerebellar ataxia type 101 test
Spinocerebellar ataxia type 111 test
Spinocerebellar ataxia type 132 tests
Spinocerebellar ataxia type 142 tests
Spinocerebellar ataxia type 182 tests
Spinocerebellar ataxia type 19/222 tests
Spinocerebellar ataxia type 21 test
Spinocerebellar ataxia type 211 test
Spinocerebellar ataxia type 232 tests
Spinocerebellar ataxia type 262 tests
Spinocerebellar ataxia type 272 tests
Spinocerebellar ataxia type 282 tests
Spinocerebellar ataxia type 291 test
Spinocerebellar ataxia type 311 test
Spinocerebellar ataxia type 341 test
Spinocerebellar ataxia type 43 tests
Spinocerebellar ataxia type 52 tests
Spinocerebellar ataxia type 61 test
Spinocerebellar ataxia type 81 test
Spinocerebellar ataxia, X-linked 12 tests
Spinocerebellar ataxia, autosomal recessive 102 tests
Spinocerebellar ataxia, autosomal recessive 111 test
Spinocerebellar ataxia, autosomal recessive 122 tests
Spinocerebellar ataxia, autosomal recessive 132 tests
Spinocerebellar ataxia, autosomal recessive 151 test
Spinocerebellar ataxia, autosomal recessive 161 test
Spinocerebellar ataxia, autosomal recessive 172 tests
Spinocerebellar ataxia, autosomal recessive 181 test
Spinocerebellar ataxia, autosomal recessive 82 tests
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 13 tests
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 22 tests
Split-hand/foot malformation 1 with sensorineural hearing loss1 test
Split-hand/foot malformation 41 test
Split-hand/foot malformation 61 test
Spondylo-megaepiphyseal-metaphyseal dysplasia1 test
Spondylocarpotarsal synostosis syndrome1 test
Spondylocostal dysostosis 1, autosomal recessive1 test
Spondylocostal dysostosis 2, autosomal recessive1 test
Spondylocostal dysostosis 3, autosomal recessive1 test
Spondylocostal dysostosis 51 test
Spondyloenchondrodysplasia with immune dysregulation1 test
Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures2 tests
Spondyloepimetaphyseal dysplasia, Missouri type1 test
Spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome1 test
Spondyloepiphyseal dysplasia with congenital joint dislocations1 test
Spongy degeneration of central nervous system4 tests
Squamous cell carcinoma of the head and neck3 tests
Stargardt Disease 31 test
Stargardt disease1 test
Stargardt disease 14 tests
Stargardt disease 41 test
Steatocystoma multiplex1 test
Steinert myotonic dystrophy syndrome1 test
Stickler syndrome1 test
Stickler syndrome type 11 test
Stickler syndrome type 23 tests
Stickler syndrome, type 51 test
Stiff skin syndrome2 tests
Sting-associated vasculopathy, infantile-onset1 test
Stocco dos Santos syndrome2 tests
Stomatin-deficient cryohydrocytosis with neurologic defects2 tests
Stormorken syndrome2 tests
Striatal degeneration, autosomal dominant 12 tests
Striatal necrosis, bilateral, and progressive polyneuropathy4 tests
Stüve-Wiedemann syndrome1 test
Succinate-semialdehyde dehydrogenase deficiency4 tests
Succinyl-CoA acetoacetate transferase deficiency3 tests
Sucrase-isomaltase deficiency1 test
Sudden infant death with dysgenesis of the testes syndrome3 tests
Supravalvar aortic stenosis1 test
Surfactant metabolism dysfunction, pulmonary, 14 tests
Surfactant metabolism dysfunction, pulmonary, 24 tests
Surfactant metabolism dysfunction, pulmonary, 34 tests
Surfactant metabolism dysfunction, pulmonary, 45 tests
Surfactant metabolism dysfunction, pulmonary, 52 tests
Susceptibility to hepatitis C virus2 tests
Susceptibility to malaria1 test
Sveinsson chorioretinal atrophy1 test
Symmetrical dyschromatosis of extremities1 test
Syndactyly type 11 test
Syndactyly, type V1 test
Syndactyly-telecanthus-anogenital and renal malformations syndrome1 test
Syndromic X-linked intellectual disability Lubs type3 tests
Syndromic X-linked intellectual disability Siderius type2 tests
Syndromic X-linked intellectual disability Snyder type2 tests
Syndromic X-linked mental retardation, Cabezas type2 tests
Syndromic mental retardation, Nascimento type, X-linked2 tests
Systemic lupus erythematosus2 tests
Systemic lupus erythematosus 11 test
Systemic lupus erythematosus 161 test
Systemic lupus erythematosus 61 test
Systemic lupus erythematosus 92 tests
T-cell immunodeficiency, congenital alopecia, and nail dystrophy3 tests
TNF receptor-associated periodic fever syndrome (TRAPS)1 test
Tangier disease1 test
Tay-Sachs disease4 tests
Tay-Sachs disease, variant AB1 test
Telangiectasia, hereditary hemorrhagic, type 23 tests
Telangiectasia, hereditary hemorrhagic, type 52 tests
Temple-Baraitser syndrome1 test
Temtamy preaxial brachydactyly syndrome1 test
Temtamy syndrome1 test
Terminal osseous dysplasia1 test
Testicular anomalies with or without congenital heart disease1 test
Testosterone 17-beta-dehydrogenase deficiency2 tests
Tetraamelia, autosomal recessive1 test
Tetralogy of Fallot5 tests
Thiamine metabolism dysfunction syndrome 5 (episodic encephalopathy type)1 test
Thiopurine methyltransferase deficiency1 test
Three M syndrome 12 tests
Three M syndrome 21 test
Three M syndrome 31 test
Thrombocythemia 12 tests
Thrombocythemia 31 test
Thrombocytopenia1 test
Thrombocytopenia 13 tests
Thrombocytopenia 24 tests
Thrombocytopenia 41 test
Thrombocytopenia 51 test
Thrombocytopenia, X-linked, intermittent1 test
Thrombocytopenia, X-linked, with or without dyserythropoietic anemia2 tests
Thrombocytopenia, platelet dysfunction, hemolysis, and imbalanced globin synthesis3 tests
Thrombophilia due to factor V Leiden2 tests
Thrombophilia due to protein S deficiency, autosomal dominant3 tests
Thrombophilia due to protein S deficiency, autosomal recessive2 tests
Thrombophilia due to thrombin defect3 tests
Thrombophilia, X-linked, due to factor IX defect3 tests
Thrombophilia, hereditary, due to protein C deficiency, autosomal dominant1 test
Thyroglobulin synthesis defect3 tests
Thyroid cancer, nonmedullary, 26 tests
Thyroid dyshormonogenesis 12 tests
Thyroid dyshormonogenesis 62 tests
Thyroid hormone metabolism, abnormal1 test
Thyroid hormone resistance, generalized, autosomal dominant1 test
Thyrotoxic periodic paralysis 21 test
Thyrotoxic periodic paralysis, susceptibility to, 11 test
Thyrotropin-releasing hormone resistance, generalized2 tests
Tibial muscular dystrophy3 tests
Tietz syndrome3 tests
Timothy syndrome2 tests
Tooth agenesis, selective, 31 test
Torsion dystonia 22 tests
Torsion dystonia 62 tests
Tourette syndrome1 test
Townes-Brocks syndrome 14 tests
Transcolabamin II deficiency3 tests
Transient myeloproliferative disorder of Down syndrome1 test
Transient neonatal diabetes mellitus 33 tests
Transposition of the great arteries, dextro-looped 12 tests
Transposition of the great arteries, dextro-looped 32 tests
Tremor, hereditary essential, 43 tests
Tricho-dento-osseous syndrome1 test
Trichohepatoenteric syndrome 11 test
Trichohepatoenteric syndrome 21 test
Trichorhinophalangeal dysplasia type I1 test
Trichothiodystrophy, nonphotosensitive 11 test
Trichothiodystrophy, type 13 tests
Triglyceride storage disease with ichthyosis1 test
Trigonocephaly 12 tests
Trimethylaminuria1 test
Triosephosphate isomerase deficiency2 tests
Tropical calcific pancreatitis2 tests
Troyer syndrome2 tests
Tuberous sclerosis 13 tests
Tuberous sclerosis 23 tests
Tuberous sclerosis syndrome3 tests
Tubulin, beta2 tests
Tuftelin deficiency1 test
Tumor susceptibility linked to germline BAP1 mutations2 tests
Turcot syndrome2 tests
Type 2 diabetes mellitus4 tests
Tyrosinase-negative oculocutaneous albinism1 test
Tyrosinase-positive oculocutaneous albinism1 test
Tyrosinemia type 33 tests
Tyrosinemia type I4 tests
Tyrosinemia type II3 tests
UDPglucose-4-epimerase deficiency3 tests
UV-sensitive syndrome 31 test
Ullrich congenital muscular dystrophy 14 tests
Ullrich congenital muscular dystrophy 21 test
Ulnar-mammary syndrome1 test
Unverricht-Lundborg syndrome3 tests
Upshaw-Schulman syndrome3 tests
Urinary bladder cancer6 tests
Urocanate hydratase deficiency1 test
Urofacial syndrome 21 test
Usher Syndrome, Type III1 test
Usher syndrome type 1D2 tests
Usher syndrome type 21 test
Usher syndrome, type 1J1 test
Usher syndrome, type 2C3 tests
VATER association1 test
Van Maldergem syndrome 21 test
Variegate porphyria1 test
Ventricular septal defect 11 test
Ventricular septal defect 22 tests
Ventricular septal defect 31 test
Ventricular tachycardia, catecholaminergic polymorphic, 21 test
Ventricular tachycardia, catecholaminergic polymorphic, 31 test
Ventricular tachycardia, catecholaminergic polymorphic, 43 tests
Ventricular tachycardia, catecholaminergic polymorphic, 5, with or without muscle weakness1 test
Ventriculomegaly with cystic kidney disease2 tests
Vertical talus, congenital1 test
Very long chain acyl-CoA dehydrogenase deficiency4 tests
Vesicoureteral reflux 21 test
Vesicoureteral reflux 31 test
Vici syndrome1 test
Visceral heterotaxy 5, autosomal1 test
Visceral myopathy1 test
Vitamin B12-responsive methylmalonic acidemia type cblA3 tests
Vitamin B12-responsive methylmalonic acidemia type cblB3 tests
Vitamin D-dependent rickets type II with alopecia1 test
Vitamin D-dependent rickets, type 11 test
Vitamin d hydroxylation-deficient rickets, type 1b1 test
Vitelliform macular dystrophy 12 tests
Vitreoretinochoroidopathy1 test
Von Hippel-Lindau syndrome1 test
Waardenburg syndrome type 13 tests
Waardenburg syndrome type 2A4 tests
Waardenburg syndrome type 2D1 test
Waardenburg syndrome type 2E1 test
Waardenburg syndrome type 32 tests
Waardenburg syndrome type 4A2 tests
Waardenburg syndrome type 4B2 tests
Waardenburg syndrome type 4C1 test
Wagner syndrome2 tests
Warburg micro syndrome 16 tests
Warburg micro syndrome 23 tests
Warburg micro syndrome 35 tests
Warburg micro syndrome 41 test
Warfarin response2 tests
Warsaw breakage syndrome1 test
Warts, hypogammaglobulinemia, infections, and myelokathexis1 test
Weaver syndrome2 tests
Webb-Dattani syndrome1 test
Weill-Marchesani syndrome 11 test
Weill-Marchesani syndrome 21 test
Weill-Marchesani syndrome 31 test
Werdnig-Hoffmann disease2 tests
Werner syndrome1 test
White-sutton syndrome2 tests
Wieacker-Wolff syndrome1 test
Wiedemann-Steiner syndrome1 test
Williams syndrome3 tests
Williams-Beuren region duplication syndrome1 test
Wilms tumor 13 tests
Wilson disease4 tests
Wiskott-Aldrich syndrome2 tests
Wolcott-Rallison dysplasia4 tests
Wolff-Parkinson-White pattern2 tests
Wolfram syndrome1 test
Wolfram syndrome 13 tests
Wolfram syndrome 22 tests
Wolfram-like syndrome, autosomal dominant2 tests
Woolly hair, autosomal dominant3 tests
X-Linked Mental Retardation 412 tests
X-Linked Mental Retardation 881 test
X-Linked Mental Retardation 891 test
X-Linked mental retardation 906 tests
X-linked agammaglobulinemia3 tests
X-linked agammaglobulinemia with growth hormone deficiency2 tests
X-linked chondrodysplasia punctata 11 test
X-linked cone-rod dystrophy 31 test
X-linked dystonia-parkinsonism3 tests
X-linked hydrocephalus syndrome1 test
X-linked ichthyosis with steryl-sulfatase deficiency3 tests
X-linked intellectual disability-hypotonic face syndrome4 tests
X-linked mental retardation with marfanoid habitus syndrome1 test
X-linked recessive nephrolithiasis with renal failure1 test
X-linked severe combined immunodeficiency4 tests
X-linked severe congenital neutropenia2 tests
X-linked sideroblastic anemia with ataxia3 tests
XFE progeroid syndrome1 test
Xeroderma pigmentosum group A1 test
Xeroderma pigmentosum variant type1 test
Xeroderma pigmentosum, group C1 test
Xeroderma pigmentosum, group D1 test
Xeroderma pigmentosum, group E1 test
Xeroderma pigmentosum, group F1 test
Xia-Gibbs syndrome1 test
ZNF711-Related X-linked Mental Retardation2 tests
Zonular pulverulent cataract 31 test
alpha Thalassemia2 tests
beta Thalassemia2 tests
mitochondrial 3-hydroxy-3-methylglutaryl-CoA synthase deficiency3 tests
spastic paraplegia 661 test
van der Woude syndrome 13 tests
von Willebrand disease type 11 test
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