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Greenwood Genetic Center Diagnostic Laboratories (Greenwood Genetic Center)

General information

Greenwood Genetic Center Diagnostic Laboratories
Greenwood Genetic Center
106 Gregor Mendel Circle
Greenwood
South Carolina
United States - 29646
https://www.ggc.org/diagnostic-lab
Organization ID: 1019

Personnel

View this laboratory in GTR

Assertion criteria

Level: Assertion criteria provided

Summary of submissions to ClinVar

Total submissions: 284

Gene

GeneSubmissionsLast Updated
ABCC82Dec 18, 2020
AFF21Dec 18, 2020
AGO11Dec 18, 2020
AGO31Dec 18, 2020
AGTPBP11Dec 18, 2020
AIFM11Apr 13, 2021
ALG32Dec 18, 2020
AMER11Dec 18, 2020
AMPD11Dec 18, 2020
ANK31Dec 18, 2020
ANO101Dec 18, 2020
APC1Dec 18, 2020
ARHGAP351Dec 18, 2020
ARID1B1Dec 18, 2020
ARSL1Aug 7, 2020
BAZ2B1Dec 18, 2020
BCOR1Aug 7, 2020
BCORL11Dec 18, 2020
BRAF9Jan 20, 2015
BRPF11Dec 18, 2020
CAD1Aug 7, 2020
CAMK2B1Dec 18, 2020
CAMK2G1Aug 28, 2018
CBS1Aug 7, 2020
CC2D2A1Dec 18, 2020
CELF31Dec 18, 2020
CHAMP11Oct 23, 2015
CHD31Dec 18, 2020
CHD41Dec 18, 2020
CHEK21Dec 18, 2020
CLCNKB2Dec 18, 2020
CLN62Aug 7, 2020
CNTNAP21Dec 18, 2020
COL4A31Dec 18, 2020
COL4A51Aug 7, 2020
COQ41Dec 18, 2020
COX101Dec 18, 2020
CSNK2A11Dec 18, 2020
CSNK2B1Dec 18, 2020
DDX236Oct 8, 2020
DEAF11Dec 18, 2020
DHCR72Dec 18, 2020
DNMT3A2Dec 18, 2020
DROSHA1Dec 18, 2020
DSG1-AS11Dec 18, 2020
DSG41Dec 18, 2020
DYNC1H12Dec 18, 2020
DYRK1A10Dec 12, 2014
EEF1A21Aug 7, 2020
FAM50A1May 14, 2020
FBN21Dec 18, 2020
FBXL41Dec 18, 2020
FGFR21Dec 18, 2020
FRAS12Dec 18, 2020
GABBR21Aug 7, 2020
GALE2Dec 18, 2020
GRIA11Dec 18, 2020
GRID21Dec 18, 2020
HEPHL12Dec 18, 2020
HERC11Dec 18, 2020
HNRNPDL1Dec 18, 2020
HSPG22Dec 18, 2020
IDS1Jul 31, 2020
INTS11Aug 7, 2020
IVD3Dec 18, 2020
KAT6A1Dec 18, 2020
KCNH21Dec 18, 2020
KCNH31Dec 18, 2020
KCNJ11Dec 10, 2020
KCNJ111Dec 18, 2020
KCNK91Dec 18, 2020
KCNQ21Aug 7, 2020
KCNT11Dec 18, 2020
KDM5C1Dec 18, 2020
KDM6B11Dec 5, 2018
KIAA05861Dec 18, 2020
KLHL151Dec 18, 2020
KMT2D2Dec 18, 2020
KMT2E1Dec 18, 2020
KRAS5Jan 20, 2015
LOC1027240581Dec 18, 2020
LOC1065017132Dec 18, 2020
LRP51Dec 18, 2020
MAGEL22Dec 18, 2020
MAP2K15Jan 20, 2015
MAT1A2Aug 7, 2020
MATN31Dec 18, 2020
MED121Dec 18, 2020
MED131Dec 18, 2020
MEIS21Aug 7, 2020
MFF-DT1Dec 18, 2020
MICU11Dec 18, 2020
MKKS1Dec 18, 2020
MORC21Dec 18, 2020
MPDZ1Dec 18, 2020
MTMR81Dec 18, 2020
MYBPC31Dec 18, 2020
NAGLU1Dec 18, 2020
NDUFB31Dec 18, 2020
NF15Dec 18, 2020
NPRL21Dec 18, 2020
NRAS3Jan 20, 2015
NUS13Sep 11, 2020
OFD11Dec 18, 2020
OSGEP1Dec 18, 2020
PAH2Dec 18, 2020
PAK31Dec 18, 2020
PAX31Dec 18, 2020
PEX11Dec 18, 2020
PGAP11Dec 18, 2020
PKD12Dec 18, 2020
PKHD12Dec 18, 2020
PORCN1Feb 9, 2021
PPFIA31Dec 18, 2020
PSMC21Dec 18, 2020
PTEN1Aug 7, 2020
PTPN1127Jan 20, 2015
PTPN41Dec 18, 2020
PURA1Dec 18, 2020
RAB33A1Apr 13, 2021
RAD51C1Dec 18, 2020
RAF16Jan 20, 2015
RERE1Dec 18, 2020
RET1Dec 18, 2020
RORA1Dec 18, 2020
RORA-AS11Dec 18, 2020
RPGRIP1L2Dec 18, 2020
RUSC21Dec 18, 2020
RXRA1Dec 18, 2020
RYR11Dec 18, 2020
SCN1A1Dec 18, 2020
SCN5A1Dec 18, 2020
SERPING11Dec 18, 2020
SLC26A51Dec 18, 2020
SLC2A11Dec 18, 2020
SLC52A21Dec 18, 2020
SMARCC22Dec 18, 2020
SMC31Dec 18, 2020
SOS115Jan 20, 2015
SPEN1Dec 18, 2020
SPTAN11Feb 4, 2021
SRCAP1Dec 18, 2020
STIM11Dec 18, 2020
TAF11Dec 18, 2020
TANC21Aug 7, 2020
TCF202Nov 8, 2018
TCF41Aug 7, 2020
TMEM1641Dec 18, 2020
TOP2B1Dec 18, 2020
TP632Dec 18, 2020
TRIO1Dec 18, 2020
TSC11Dec 18, 2020
TTC191Dec 18, 2020
TUBA1A1Dec 18, 2020
UPF3B1Dec 18, 2020
USH2A1Dec 18, 2020
USH2A-AS11Dec 18, 2020
ZEB21Dec 18, 2020
ZMIZ11Aug 7, 2020
ZNF4621Dec 18, 2020

Condition

NameSubmissionsLast Updated
22q13.3 deletion syndrome16Aug 14, 2020
Absent or delayed speech development10Dec 12, 2014
Autistic disorder of childhood onset1Aug 28, 2018
Bartter syndrome, type 2, antenatal1Dec 10, 2020
Combined oxidative phosphorylation deficiency 61Apr 13, 2021
Deeply set eye10Dec 12, 2014
Early infantile epileptic encephalopathy 51Feb 4, 2021
Feeding difficulties9Dec 12, 2014
Focal dermal hypoplasia1Feb 9, 2021
Generalized hypotonia1Aug 28, 2018
Global developmental delay1Aug 28, 2018
Intellectual disability11May 14, 2020
Intellectual disability, severe1Aug 28, 2018
Microcephaly10Dec 12, 2014
Mucopolysaccharidosis, MPS-II1Jul 31, 2020
Seizures8Dec 12, 2014
not provided230Dec 18, 2020
not specified21Jan 20, 2015

Testing in GTR

Disease nameNumber of tests
3 Methylcrotonyl-CoA carboxylase 1 deficiency1 test
3-Methylglutaconic aciduria type 11 test
3-Methylglutaconic aciduria type 22 tests
3-Methylglutaconic aciduria type 31 test
46,XY sex reversal, type 21 test
4p partial monosomy syndrome1 test
ALG1-CDG1 test
ALG9 congenital disorder of glycosylation1 test
ANKRD1-related dilated cardiomyopathy1 test
Aarskog syndrome1 test
Abortive cerebellar ataxia1 test
Achondrogenesis type II1 test
Achondroplasia2 tests
Achromatopsia 21 test
Achromatopsia 31 test
Achromatopsia 41 test
Achromatopsia 71 test
Acrocephalosyndactyly type I2 tests
Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins1 test
Adenylosuccinate lyase deficiency1 test
Adrenoleukodystrophy2 tests
Age-related macular degeneration 11 test
Age-related macular degeneration 21 test
Age-related macular degeneration 31 test
Age-related macular degeneration 61 test
Agenesis of the corpus callosum with peripheral neuropathy2 tests
Aicardi Goutieres syndrome 11 test
Aicardi Goutieres syndrome 21 test
Aicardi Goutieres syndrome 51 test
Aicardi-Goutieres syndrome 61 test
Aicardi-Goutieres syndrome 71 test
Alagille syndrome 11 test
Alagille syndrome 21 test
Albinism, oculocutaneous, type VII1 test
Allan-Herndon-Dudley syndrome1 test
Alpha thalassemia-X-linked intellectual disability syndrome2 tests
Alpha-1-antitrypsin deficiency2 tests
Alpha-B crystallinopathy3 tests
Alpha-N-acetylgalactosaminidase deficiency type 21 test
Alpha-methylacyl-CoA racemase deficiency1 test
Alport syndrome 1, X-linked recessive1 test
Alport syndrome 3, autosomal dominant1 test
Alport syndrome, autosomal recessive1 test
Alstrom syndrome2 tests
Alternating hemiplegia of childhood 11 test
Alveolar capillary dysplasia with pulmonary venous misalignment2 tests
Amelocerebrohypohidrotic syndrome1 test
Amish lethal microcephaly1 test
Amyloidogenic transthyretin amyloidosis3 tests
Amyotrophic lateral sclerosis 14, with or without frontotemporal dementia1 test
Amyotrophic lateral sclerosis 211 test
Amyotrophic lateral sclerosis type 113 tests
Amyotrophic lateral sclerosis type 41 test
Andersen Tawil syndrome2 tests
Anemia without thromobocytopenia, X-linked1 test
Angelman syndrome5 tests
Anophthalmia/microphthalmia-esophageal atresia syndrome1 test
Anterior segment dysgenesis 11 test
Aortic aneurysm, familial thoracic 42 tests
Aortic aneurysm, familial thoracic 62 tests
Aortic aneurysm, familial thoracic 72 tests
Aortic valve disease 12 tests
Arginine:glycine amidinotransferase deficiency1 test
Arrhythmogenic right ventricular cardiomyopathy, type 103 tests
Arrhythmogenic right ventricular cardiomyopathy, type 112 tests
Arrhythmogenic right ventricular cardiomyopathy, type 122 tests
Arrhythmogenic right ventricular cardiomyopathy, type 52 tests
Arrhythmogenic right ventricular dysplasia 82 tests
Arrhythmogenic right ventricular dysplasia 94 tests
Arrhythmogenic right ventricular dysplasia, familial 11 test
Arrhythmogenic right ventricular dysplasia, familial, 23 tests
Arterial tortuosity syndrome2 tests
Arthrogryposis, distal, with impaired proprioception and touch1 test
Arthrogryposis, perthes disease, and upward gaze palsy1 test
Arthrogryposis, renal dysfunction, and cholestasis 11 test
Arthrogryposis- oculomotor limitation-electroretinal anomalies syndrome1 test
Arthyrgryposis, distal, type 2B1 test
Aspartylglucosaminuria2 tests
Ataxia, spastic, 1, autosomal dominant1 test
Ataxia, spastic, 2, autosomal recessive1 test
Ataxia, spastic, 4, autosomal recessive1 test
Ataxia-oculomotor apraxia type 11 test
Atrial fibrillation, familial, 104 tests
Atrial fibrillation, familial, 122 tests
Atrial fibrillation, familial, 132 tests
Atrial fibrillation, familial, 142 tests
Atrial fibrillation, familial, 32 tests
Atrial fibrillation, familial, 42 tests
Atrial fibrillation, familial, 73 tests
Atrial fibrillation, familial, 92 tests
Atrial septal defect 32 tests
Atrial septal defect 53 tests
Atrial septal defect 7 with or without atrioventricular conduction defects1 test
Autism spectrum disorder1 test
Autistic disorder of childhood onset1 test
Autoimmune disease, multisystem, infantile-onset, 11 test
Autoinflammation with infantile enterocolitis1 test
Autoinflammatory syndrome, familial, Behcet-like1 test
Autosomal dominant nonsyndromic deafness 171 test
Autosomal dominant nonsyndromic deafness 221 test
Autosomal dominant nonsyndromic deafness 2A1 test
Autosomal dominant nonsyndromic deafness 62 tests
Autosomal dominant optic atrophy classic form2 tests
Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 11 test
Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 22 tests
Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 33 tests
Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 42 tests
Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 52 tests
Autosomal recessive axonal neuropathy with neuromyotonia3 tests
Autosomal recessive cutis laxa type 1B1 test
Autosomal recessive cutis laxa type IA3 tests
Autosomal recessive limb-girdle muscular dystrophy type 2B2 tests
Autosomal recessive limb-girdle muscular dystrophy type 2D1 test
Autosomal recessive limb-girdle muscular dystrophy type 2E1 test
Autosomal recessive limb-girdle muscular dystrophy type 2F3 tests
Autosomal recessive limb-girdle muscular dystrophy type 2G3 tests
Autosomal recessive multiple pterygium syndrome2 tests
Autosomal recessive polycystic kidney disease1 test
Autosomal recessive pseudohypoaldosteronism type 12 tests
Axenfeld-Rieger syndrome type 11 test
Ayme-gripp syndrome1 test
Azorean disease2 tests
Bailey-Bloch congenital myopathy1 test
Bannayan-Riley-Ruvalcaba syndrome2 tests
Baraitser-Winter Syndrome 21 test
Bardet-Biedl syndrome 12 tests
Bardet-Biedl syndrome 101 test
Bardet-Biedl syndrome 111 test
Bardet-Biedl syndrome 121 test
Bardet-Biedl syndrome 132 tests
Bardet-Biedl syndrome 141 test
Bardet-Biedl syndrome 151 test
Bardet-Biedl syndrome 161 test
Bardet-Biedl syndrome 171 test
Bardet-Biedl syndrome 181 test
Bardet-Biedl syndrome 191 test
Bardet-Biedl syndrome 21 test
Bardet-Biedl syndrome 211 test
Bardet-Biedl syndrome 31 test
Bardet-Biedl syndrome 41 test
Bardet-Biedl syndrome 51 test
Bardet-Biedl syndrome 61 test
Bardet-Biedl syndrome 71 test
Bardet-Biedl syndrome 82 tests
Bardet-Biedl syndrome 91 test
Bartsocas-Papas syndrome1 test
Bartter disease type 4a1 test
Bartter syndrome type 31 test
Bartter syndrome, type 4b1 test
Beare-Stevenson cutis gyrata syndrome2 tests
Becker muscular dystrophy2 tests
Beckwith-Wiedemann syndrome4 tests
Benign familial neonatal seizures 11 test
Benign familial neonatal seizures 21 test
Benign recurrent intrahepatic cholestasis type 21 test
Benign scapuloperoneal muscular dystrophy with cardiomyopathy6 tests
Bestrophinopathy, autosomal recessive1 test
Beta-D-mannosidosis2 tests
Beta-propeller protein-associated neurodegeneration2 tests
Bethlem myopathy 11 test
Bethlem myopathy 21 test
Bietti crystalline corneoretinal dystrophy1 test
Bifunctional peroxisomal enzyme deficiency1 test
Bile acid malabsorption, primary1 test
Bile acid synthesis defect, congenital, 31 test
Biotinidase deficiency2 tests
Bone fragility with contractures, arterial rupture, and deafness1 test
Borjeson-Forssman-Lehmann syndrome4 tests
Bosch-Boonstra-Schaaf optic atrophy syndrome1 test
Brain small vessel disease with hemorrhage1 test
Branchiootic syndrome 11 test
Branchiootorenal Syndrome 11 test
Brittle cornea syndrome 11 test
Brittle cornea syndrome 21 test
Brody myopathy2 tests
Bronchiectasis with or without elevated sweat chloride 12 tests
Bronchiectasis with or without elevated sweat chloride 22 tests
Bruck syndrome 11 test
Bruck syndrome 21 test
Brugada syndrome1 test
Brugada syndrome 14 tests
Brugada syndrome 22 tests
Brugada syndrome 33 tests
Brugada syndrome 42 tests
Brugada syndrome 52 tests
Brugada syndrome 62 tests
Brugada syndrome 72 tests
Brugada syndrome 82 tests
Brugada syndrome 92 tests
CHARGE association2 tests
Cantu syndrome, KCNJ8 related2 tests
Cap myopathy 12 tests
Cap myopathy 22 tests
Capillary malformation-arteriovenous malformation 12 tests
Cardiac arrhythmia, ankyrin B-related2 tests
Cardiac valvular dysplasia, X-linked1 test
Cardiofaciocutaneous syndrome 11 test
Cardiofaciocutaneous syndrome 21 test
Cardiofaciocutaneous syndrome 32 tests
Cardiofaciocutaneous syndrome 42 tests
Cardiomyopathy, dilated, 1NN3 tests
Cardiomyopathy, dilated, 2b2 tests
Cardiomyopathy, dilated, with woolly hair, keratoderma, and tooth agenesis2 tests
Carnitine acylcarnitine translocase deficiency1 test
Carnitine palmitoyltransferase 1A deficiency1 test
Carnitine palmitoyltransferase II deficiency2 tests
Cataract 111 test
Cataract 21, multiple types1 test
Catecholaminergic polymorphic ventricular tachycardia type 13 tests
Central core myopathy1 test
Centronuclear myopathy1 test
Cerebellar ataxia, deafness, and narcolepsy, autosomal dominant2 tests
Cerebellar atrophy with seizures and variable developmental delay1 test
Cerebellar atrophy, visual impairment, and psychomotor retardation1 test
Cerebral cavernous malformation1 test
Cerebral cavernous malformations 21 test
Cerebral cavernous malformations 31 test
Cerebral creatine deficiency syndrome1 test
Cerebrooculofacioskeletal syndrome 11 test
Cerebroretinal microangiopathy with calcifications and cysts 11 test
Ceroid lipofuscinosis neuronal 23 tests
Charcot-Marie-Tooth Neuropathy X Type 12 tests
Charcot-Marie-Tooth disease and deafness2 tests
Charcot-Marie-Tooth disease axonal type 2C3 tests
Charcot-Marie-Tooth disease axonal type 2F3 tests
Charcot-Marie-Tooth disease axonal type 2K2 tests
Charcot-Marie-Tooth disease dominant intermediate d2 tests
Charcot-Marie-Tooth disease type 2B2 tests
Charcot-Marie-Tooth disease type 2B14 tests
Charcot-Marie-Tooth disease type 2B22 tests
Charcot-Marie-Tooth disease type 2D3 tests
Charcot-Marie-Tooth disease type 2E2 tests
Charcot-Marie-Tooth disease type 2I2 tests
Charcot-Marie-Tooth disease type 2J2 tests
Charcot-Marie-Tooth disease type 2P2 tests
Charcot-Marie-Tooth disease, X-linked dominant, 62 tests
Charcot-Marie-Tooth disease, X-linked recessive, type 52 tests
Charcot-Marie-Tooth disease, axonal type 2X2 tests
Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2A2B3 tests
Charcot-Marie-Tooth disease, axonal, type 2CC2 tests
Charcot-Marie-Tooth disease, axonal, type 2O3 tests
Charcot-Marie-Tooth disease, axonal, type 2Q2 tests
Charcot-Marie-Tooth disease, axonal, type 2R2 tests
Charcot-Marie-Tooth disease, axonal, type 2S3 tests
Charcot-Marie-Tooth disease, axonal, type 2T2 tests
Charcot-Marie-Tooth disease, axonal, type 2u3 tests
Charcot-Marie-Tooth disease, axonal, type 2w2 tests
Charcot-Marie-Tooth disease, axonal, type 2y3 tests
Charcot-Marie-Tooth disease, axonal, type 2z2 tests
Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive2 tests
Charcot-Marie-Tooth disease, demyelinating, type 1b2 tests
Charcot-Marie-Tooth disease, demyelinating, type 1d2 tests
Charcot-Marie-Tooth disease, demyelinating, type 1f2 tests
Charcot-Marie-Tooth disease, demyelinating, type 4F2 tests
Charcot-Marie-Tooth disease, dominant intermediate B4 tests
Charcot-Marie-Tooth disease, dominant intermediate C2 tests
Charcot-Marie-Tooth disease, dominant intermediate E2 tests
Charcot-Marie-Tooth disease, dominant intermediate F2 tests
Charcot-Marie-Tooth disease, recessive intermediate B2 tests
Charcot-Marie-Tooth disease, recessive intermediate c3 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 2A2A3 tests
Charcot-Marie-Tooth disease, type 2L3 tests
Charcot-Marie-Tooth disease, type 2M4 tests
Charcot-Marie-Tooth disease, type 2N2 tests
Charcot-Marie-Tooth disease, type 4A2 tests
Charcot-Marie-Tooth disease, type 4B12 tests
Charcot-Marie-Tooth disease, type 4B23 tests
Charcot-Marie-Tooth disease, type 4B32 tests
Charcot-Marie-Tooth disease, type 4C2 tests
Charcot-Marie-Tooth disease, type 4D2 tests
Charcot-Marie-Tooth disease, type 4H2 tests
Charcot-Marie-Tooth disease, type 4J3 tests
Charcot-Marie-Tooth disease, type 4k3 tests
Charcot-Marie-Tooth disease, type IA3 tests
Charlevoix-Saguenay spastic ataxia1 test
Choanal atresia and lymphedema1 test
Cholestanol storage disease1 test
Cholestasis of pregnancy1 test
Cholestasis, benign recurrent intrahepatic 11 test
Cholestasis, intrahepatic, of pregnancy 31 test
Cholestasis, progressive familial intrahepatic 11 test
Cholestasis, progressive familial intrahepatic, 51 test
Chondrodysplasia Blomstrand type1 test
Choreoathetosis, hypothyroidism, and neonatal respiratory distress3 tests
Choroidal dystrophy, central areolar 21 test
Choroideremia1 test
Christianson syndrome1 test
Chudley-McCullough syndrome1 test
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, 172 tests
Ciliary dyskinesia, primary, 182 tests
Ciliary dyskinesia, primary, 192 tests
Ciliary dyskinesia, primary, 22 tests
Ciliary dyskinesia, primary, 202 tests
Ciliary dyskinesia, primary, 212 tests
Ciliary dyskinesia, primary, 222 tests
Ciliary dyskinesia, primary, 262 tests
Ciliary dyskinesia, primary, 272 tests
Ciliary dyskinesia, primary, 282 tests
Ciliary dyskinesia, primary, 292 tests
Ciliary dyskinesia, primary, 32 tests
Ciliary dyskinesia, primary, 302 tests
Ciliary dyskinesia, primary, 322 tests
Ciliary dyskinesia, primary, 332 tests
Ciliary dyskinesia, primary, 342 tests
Ciliary dyskinesia, primary, 352 tests
Ciliary dyskinesia, primary, 371 test
Ciliary dyskinesia, primary, 62 tests
Ciliary dyskinesia, primary, 72 tests
Ciliary dyskinesia, primary, 92 tests
Citrullinemia type I1 test
Citrullinemia type II1 test
Classic homocystinuria2 tests
Clubfoot1 test
Coenzyme Q10 deficiency, primary, 71 test
Coffin Siris/Intellectual Disability1 test
Coffin-Lowry syndrome1 test
Coffin-Siris syndrome 12 tests
Coffin-Siris syndrome 51 test
Coffin-Siris syndrome 61 test
Cohen-Gibson syndrome1 test
Combined deficiency of sialidase AND beta galactosidase3 tests
Combined oxidative phosphorylation deficiency 101 test
Combined oxidative phosphorylation deficiency 31 test
Combined oxidative phosphorylation deficiency 62 tests
Combined oxidative phosphorylation deficiency 71 test
Complete trisomy 21 syndrome1 test
Cone dystrophy 31 test
Cone dystrophy 41 test
Cone dystrophy with supernormal rod response1 test
Cone-Rod Dystrophy, Recessive1 test
Cone-rod dystrophy 101 test
Cone-rod dystrophy 111 test
Cone-rod dystrophy 121 test
Cone-rod dystrophy 131 test
Cone-rod dystrophy 152 tests
Cone-rod dystrophy 161 test
Cone-rod dystrophy 181 test
Cone-rod dystrophy 191 test
Cone-rod dystrophy 21 test
Cone-rod dystrophy 201 test
Cone-rod dystrophy 211 test
Cone-rod dystrophy 31 test
Cone-rod dystrophy 51 test
Cone-rod dystrophy 62 tests
Cone-rod dystrophy 71 test
Cone-rod dystrophy 91 test
Cone-rod dystrophy, X-linked 12 tests
Congenital bile acid synthesis defect 11 test
Congenital bile acid synthesis defect 21 test
Congenital bile acid synthesis defect 41 test
Congenital cataracts-facial dysmorphism-neuropathy syndrome1 test
Congenital central hypoventilation2 tests
Congenital contractural arachnodactyly3 tests
Congenital contractures of the limbs and face, hypotonia, and developmental delay1 test
Congenital disorder of glycosylation1 test
Congenital disorder of glycosylation type 1C1 test
Congenital disorder of glycosylation type 1E1 test
Congenital disorder of glycosylation type 1M2 tests
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 Ia3 tests
Congenital dyserythropoietic anemia, type I1 test
Congenital dyserythropoietic anemia, type II1 test
Congenital dyserythropoietic anemia, type III1 test
Congenital dyserythropoietic anemia, type IV1 test
Congenital erythropoietic porphyria1 test
Congenital hypomyelinating neuropathy 1, autosomal recessive2 tests
Congenital hypotrichosis with juvenile macular dystrophy1 test
Congenital lactase deficiency1 test
Congenital microvillous atrophy1 test
Congenital muscular dystrophy due to partial LAMA2 deficiency1 test
Congenital muscular dystrophy, LMNA-related2 tests
Congenital muscular dystrophy-dystroglycanopathy (with or without mental retardation) type B52 tests
Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A52 tests
Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A21 test
Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A41 test
Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A71 test
Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B11 test
Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B21 test
Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B31 test
Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B61 test
Congenital muscular dystrophy-dystroglycanopathy without mental retardation, type B42 tests
Congenital muscular hypertrophy-cerebral syndrome3 tests
Congenital myasthenic syndrome 1B, fast-channel2 tests
Congenital myasthenic syndrome 3B1 test
Congenital myasthenic syndrome 4C2 tests
Congenital myasthenic syndrome, acetazolamide-responsive1 test
Congenital myopathy with excess of thin filaments2 tests
Congenital myopathy with fiber type disproportion2 tests
Congenital myotonia, autosomal dominant form1 test
Congenital myotonia, autosomal recessive form1 test
Congenital primary aphakia1 test
Congenital secretory diarrhea, chloride type1 test
Congenital secretory diarrhea, sodium type1 test
Congenital stationary night blindness1 test
Congenital stationary night blindness, autosomal dominant 12 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 1D1 test
Congenital stationary night blindness, type 1E1 test
Congenital stationary night blindness, type 1F1 test
Congenital stationary night blindness, type 2A1 test
Congenital stationary night blindness, type 2B2 tests
Conotruncal heart malformations1 test
Contractures, pterygia, and variable skeletal fusions syndrome 1A1 test
Cornelia de Lange syndrome 12 tests
Cornelia de Lange syndrome 32 tests
Cornelia de Lange syndrome 42 tests
Cornelia de Lange syndrome 52 tests
Cortical dysplasia, complex, with other brain malformations 11 test
Cortical dysplasia, complex, with other brain malformations 21 test
Cortical dysplasia, complex, with other brain malformations 51 test
Costello syndrome4 tests
Cowchock syndrome2 tests
Cowden syndrome2 tests
Cowden syndrome 11 test
Craniosynostosis 12 tests
Creatine transporter deficiency1 test
Crigler-Najjar syndrome type 11 test
Crigler-Najjar syndrome, type II1 test
Crouzon syndrome2 tests
Crouzon syndrome with acanthosis nigricans1 test
Cutis laxa with osteodystrophy1 test
Cutis laxa with severe pulmonary, gastrointestinal, and urinary abnormalities1 test
Cutis laxa, X-linked2 tests
Cutis laxa, autosomal dominant 13 tests
Cutis laxa, autosomal dominant 22 tests
Cyclical neutropenia1 test
Cystic fibrosis4 tests
DOORS syndrome2 tests
Danon disease5 tests
De Lange syndrome2 tests
Deafness dystonia syndrome1 test
Deafness, X-linked 11 test
Deafness, X-linked 21 test
Deafness, autosomal dominant 11 test
Deafness, autosomal dominant 101 test
Deafness, autosomal dominant 111 test
Deafness, autosomal dominant 121 test
Deafness, autosomal dominant 132 tests
Deafness, autosomal dominant 151 test
Deafness, autosomal dominant 201 test
Deafness, autosomal dominant 231 test
Deafness, autosomal dominant 251 test
Deafness, autosomal dominant 281 test
Deafness, autosomal dominant 2b1 test
Deafness, autosomal dominant 361 test
Deafness, autosomal dominant 3a2 tests
Deafness, autosomal dominant 3b1 test
Deafness, autosomal dominant 41 test
Deafness, autosomal dominant 401 test
Deafness, autosomal dominant 441 test
Deafness, autosomal dominant 4b1 test
Deafness, autosomal dominant 51 test
Deafness, autosomal dominant 511 test
Deafness, autosomal dominant 641 test
Deafness, autosomal dominant 91 test
Deafness, autosomal recessive 121 test
Deafness, autosomal recessive 151 test
Deafness, autosomal recessive 181 test
Deafness, autosomal recessive 1A3 tests
Deafness, autosomal recessive 1b1 test
Deafness, autosomal recessive 21 test
Deafness, autosomal recessive 211 test
Deafness, autosomal recessive 221 test
Deafness, autosomal recessive 231 test
Deafness, autosomal recessive 241 test
Deafness, autosomal recessive 251 test
Deafness, autosomal recessive 281 test
Deafness, autosomal recessive 291 test
Deafness, autosomal recessive 31 test
Deafness, autosomal recessive 311 test
Deafness, autosomal recessive 351 test
Deafness, autosomal recessive 36, with or without vestibular involvement1 test
Deafness, autosomal recessive 371 test
Deafness, autosomal recessive 391 test
Deafness, autosomal recessive 4, with enlarged vestibular aqueduct1 test
Deafness, autosomal recessive 421 test
Deafness, autosomal recessive 481 test
Deafness, autosomal recessive 491 test
Deafness, autosomal recessive 531 test
Deafness, autosomal recessive 591 test
Deafness, autosomal recessive 61 test
Deafness, autosomal recessive 611 test
Deafness, autosomal recessive 631 test
Deafness, autosomal recessive 671 test
Deafness, autosomal recessive 71 test
Deafness, autosomal recessive 741 test
Deafness, autosomal recessive 771 test
Deafness, autosomal recessive 791 test
Deafness, autosomal recessive 81 test
Deafness, autosomal recessive 891 test
Deafness, autosomal recessive 91 test
Deafness, autosomal recessive 911 test
Deafness, autosomal recessive 981 test
Deafness, nonsyndromic sensorineural, mitochondrial6 tests
Deafness-infertility syndrome1 test
Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase1 test
Deficiency of alpha-mannosidase3 tests
Deficiency of butyryl-CoA dehydrogenase1 test
Deficiency of hyaluronoglucosaminidase1 test
Dejerine-Sottas disease2 tests
Desbuquois dysplasia 12 tests
Developmental and epileptic encephalopathy 911 test
Developmental and epileptic encephalopathy 922 tests
Developmental and epileptic encephalopathy 943 tests
Developmental and epileptic encephalopathy, 561 test
Developmental and epileptic encephalopathy, 572 tests
Developmental and epileptic encephalopathy, 581 test
Developmental and epileptic encephalopathy, 601 test
Developmental and epileptic encephalopathy, 631 test
Developmental and epileptic encephalopathy, 642 tests
Developmental and epileptic encephalopathy, 651 test
Developmental and epileptic encephalopathy, 662 tests
Developmental and epileptic encephalopathy, 672 tests
Developmental and epileptic encephalopathy, 681 test
Developmental and epileptic encephalopathy, 691 test
Developmental and epileptic encephalopathy, 701 test
Developmental and epileptic encephalopathy, 711 test
Developmental and epileptic encephalopathy, 741 test
Diabetes mellitus, insulin-dependent, 21 test
Diamond-Blackfan anemia 11 test
Diamond-Blackfan anemia 101 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 91 test
Diarrhea 4, malabsorptive, congenital1 test
Diarrhea 5, with tufting enteropathy, congenital1 test
Dilated cardiomyopathy 1A2 tests
Dilated cardiomyopathy 1AA3 tests
Dilated cardiomyopathy 1BB3 tests
Dilated cardiomyopathy 1C2 tests
Dilated cardiomyopathy 1CC3 tests
Dilated cardiomyopathy 1DD2 tests
Dilated cardiomyopathy 1E4 tests
Dilated cardiomyopathy 1EE2 tests
Dilated cardiomyopathy 1FF3 tests
Dilated cardiomyopathy 1G3 tests
Dilated cardiomyopathy 1HH2 tests
Dilated cardiomyopathy 1I2 tests
Dilated cardiomyopathy 1II2 tests
Dilated cardiomyopathy 1JJ2 tests
Dilated cardiomyopathy 1KK2 tests
Dilated cardiomyopathy 1L2 tests
Dilated cardiomyopathy 1O2 tests
Dilated cardiomyopathy 1P3 tests
Dilated cardiomyopathy 1R2 tests
Dilated cardiomyopathy 1S3 tests
Dilated cardiomyopathy 1W2 tests
Dilated cardiomyopathy 1X1 test
Dilated cardiomyopathy 1Y3 tests
Dilated cardiomyopathy 1Z3 tests
Dilated cardiomyopathy 2A3 tests
Dilated cardiomyopathy 3B2 tests
Dilated cardiomyopathy with woolly hair and keratoderma2 tests
Disorder of organic acid metabolism1 test
Distal arthrogryposis type 1A2 tests
Distal arthrogryposis type 1B1 test
Distal arthrogryposis type 2B2 tests
Distal arthrogryposis type 5D1 test
Distal hereditary motor neuronopathy type 2A3 tests
Distal hereditary motor neuronopathy type 2B3 tests
Distal hereditary motor neuronopathy type 53 tests
Distal hereditary motor neuronopathy type 5B1 test
Distal hereditary motor neuronopathy type 7B1 test
Distal myopathy, Tateyama type3 tests
Distal spinal muscular atrophy, X-linked 31 test
Distal spinal muscular atrophy, autosomal recessive 43 tests
Distal spinal muscular atrophy, congenital nonprogressive1 test
Distichiasis-lymphedema syndrome2 tests
Doyne honeycomb retinal dystrophy1 test
Dubin-Johnson syndrome1 test
Duchenne muscular dystrophy3 tests
Dyggve-Melchior-Clausen syndrome1 test
Dyskeratosis congenita autosomal recessive 11 test
Dyskeratosis congenita, X-linked3 tests
Dyskeratosis congenita, autosomal dominant 13 tests
Dyskeratosis congenita, autosomal dominant 61 test
Dyskeratosis congenita, autosomal dominant, 23 tests
Dyskeratosis congenita, autosomal dominant, 33 tests
Dyskeratosis congenita, autosomal recessive 21 test
Dyskeratosis congenita, autosomal recessive 61 test
Dyskeratosis congenita, autosomal recessive, 31 test
Dyskeratosis congenita, autosomal recessive, 42 tests
Dyskeratosis congenita, autosomal recessive, 51 test
Dystonia 271 test
EAST syndrome2 tests
EEM syndrome1 test
EMERY-DREIFUSS MUSCULAR DYSTROPHY 6, X-LINKED1 test
Early infantile epileptic encephalopathy 101 test
Early infantile epileptic encephalopathy 111 test
Early infantile epileptic encephalopathy 121 test
Early infantile epileptic encephalopathy 131 test
Early infantile epileptic encephalopathy 142 tests
Early infantile epileptic encephalopathy 152 tests
Early infantile epileptic encephalopathy 161 test
Early infantile epileptic encephalopathy 172 tests
Early infantile epileptic encephalopathy 182 tests
Early infantile epileptic encephalopathy 21 test
Early infantile epileptic encephalopathy 211 test
Early infantile epileptic encephalopathy 341 test
Early infantile epileptic encephalopathy 42 tests
Early infantile epileptic encephalopathy 52 tests
Early infantile epileptic encephalopathy 551 test
Early infantile epileptic encephalopathy 592 tests
Early infantile epileptic encephalopathy 611 test
Early infantile epileptic encephalopathy 622 tests
Early infantile epileptic encephalopathy 72 tests
Early infantile epileptic encephalopathy 82 tests
Early infantile epileptic encephalopathy 91 test
Early infantile epileptic encephalopathy with suppression bursts1 test
Early myoclonic encephalopathy1 test
Ectodermal dysplasia/short stature syndrome1 test
Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 32 tests
Ehlers-Danlos syndrome dermatosparaxis type1 test
Ehlers-Danlos syndrome due to tenascin-X deficiency1 test
Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss1 test
Ehlers-Danlos syndrome, arthrochalasia type, 11 test
Ehlers-Danlos syndrome, classic type2 tests
Ehlers-Danlos syndrome, hydroxylysine-deficient2 tests
Ehlers-Danlos syndrome, musculocontractural type2 tests
Ehlers-Danlos syndrome, type 43 tests
Eichsfeld type congenital muscular dystrophy1 test
Elevated serum creatine phosphokinase3 tests
Emery-Dreifuss muscular dystrophy 1, X-linked3 tests
Emery-Dreifuss muscular dystrophy 3, autosomal recessive4 tests
Emery-Dreifuss muscular dystrophy 4, autosomal dominant1 test
Emery-Dreifuss muscular dystrophy 5, autosomal dominant1 test
Emery-Dreifuss muscular dystrophy 7, autosomal dominant3 tests
Encephalopathy due to defective mitochondrial and peroxisomal fission 11 test
Encephalopathy, progressive, with or without lipodystrophy1 test
Endplate acetylcholinesterase deficiency1 test
Epilepsy, X-linked, with variable learning disabilities and behavior disorders1 test
Epilepsy, childhood absence 21 test
Epilepsy, early-onset, vitamin b6-dependent1 test
Epilepsy, familial focal, with variable foci 11 test
Epilepsy, familial focal, with variable foci 21 test
Epilepsy, familial focal, with variable foci 31 test
Epilepsy, familial focal, with variable foci 42 tests
Epilepsy, focal, with speech disorder and with or without mental retardation1 test
Epilepsy, hearing loss, and mental retardation syndrome2 tests
Epilepsy, idiopathic generalized 81 test
Epilepsy, idiopathic generalized 91 test
Epilepsy, idiopathic generalized, susceptibility to, 121 test
Epilepsy, idiopathic generalized, susceptibility to, 141 test
Epilepsy, juvenile absence, susceptibility to, 11 test
Epilepsy, nocturnal frontal lobe, 51 test
Epilepsy, nocturnal frontal lobe, type 11 test
Epilepsy, nocturnal frontal lobe, type 31 test
Epilepsy, nocturnal frontal lobe, type 41 test
Epilepsy, progressive myoclonic 31 test
Epilepsy, progressive myoclonic 4, with or without renal failure1 test
Epilepsy, progressive myoclonic 51 test
Epilepsy, progressive myoclonic 61 test
Epilepsy, progressive myoclonic 71 test
Epileptic encephalopathy, early infantile, 12 tests
Epileptic encephalopathy, early infantile, 192 tests
Epileptic encephalopathy, early infantile, 232 tests
Epileptic encephalopathy, early infantile, 242 tests
Epileptic encephalopathy, early infantile, 251 test
Epileptic encephalopathy, early infantile, 262 tests
Epileptic encephalopathy, early infantile, 271 test
Epileptic encephalopathy, early infantile, 282 tests
Epileptic encephalopathy, early infantile, 291 test
Epileptic encephalopathy, early infantile, 302 tests
Epileptic encephalopathy, early infantile, 312 tests
Epileptic encephalopathy, early infantile, 322 tests
Epileptic encephalopathy, early infantile, 332 tests
Epileptic encephalopathy, early infantile, 351 test
Epileptic encephalopathy, early infantile, 362 tests
Epileptic encephalopathy, early infantile, 371 test
Epileptic encephalopathy, early infantile, 381 test
Epileptic encephalopathy, early infantile, 401 test
Epileptic encephalopathy, early infantile, 411 test
Epileptic encephalopathy, early infantile, 421 test
Epileptic encephalopathy, early infantile, 431 test
Epileptic encephalopathy, early infantile, 442 tests
Epileptic encephalopathy, early infantile, 452 tests
Epileptic encephalopathy, early infantile, 461 test
Epileptic encephalopathy, early infantile, 472 tests
Epileptic encephalopathy, early infantile, 481 test
Epileptic encephalopathy, early infantile, 491 test
Epileptic encephalopathy, early infantile, 501 test
Epileptic encephalopathy, early infantile, 511 test
Epileptic encephalopathy, early infantile, 521 test
Epileptic encephalopathy, early infantile, 532 tests
Epileptic encephalopathy, early infantile, 541 test
Episodic ataxia type 11 test
Episodic ataxia type 21 test
Episodic kinesigenic dyskinesia 11 test
Erythrocyte lactate transporter defect1 test
FG syndrome 11 test
FGFR2 related craniosynostosis1 test
Fabry disease6 tests
Facioscapulohumeral muscular dystrophy 21 test
Familial Mediterranean fever1 test
Familial cold autoinflammatory syndrome 11 test
Familial cold autoinflammatory syndrome 21 test
Familial cold autoinflammatory syndrome 41 test
Familial hypercholesterolemia 13 tests
Familial hypercholesterolemia 22 tests
Familial hypercholesterolemia 32 tests
Familial hypercholesterolemia 42 tests
Familial hyperkalemic periodic paralysis1 test
Familial hypertrophic cardiomyopathy 14 tests
Familial hypertrophic cardiomyopathy 103 tests
Familial hypertrophic cardiomyopathy 113 tests
Familial hypertrophic cardiomyopathy 123 tests
Familial hypertrophic cardiomyopathy 133 tests
Familial hypertrophic cardiomyopathy 142 tests
Familial hypertrophic cardiomyopathy 152 tests
Familial hypertrophic cardiomyopathy 163 tests
Familial hypertrophic cardiomyopathy 171 test
Familial hypertrophic cardiomyopathy 183 tests
Familial hypertrophic cardiomyopathy 23 tests
Familial hypertrophic cardiomyopathy 203 tests
Familial hypertrophic cardiomyopathy 33 tests
Familial hypertrophic cardiomyopathy 43 tests
Familial hypertrophic cardiomyopathy 63 tests
Familial hypertrophic cardiomyopathy 73 tests
Familial hypertrophic cardiomyopathy 83 tests
Familial hypertrophic cardiomyopathy 93 tests
Familial infantile myasthenia2 tests
Familial restrictive cardiomyopathy 13 tests
Familial restrictive cardiomyopathy 33 tests
Familial temporal lobe epilepsy 11 test
Familial thoracic aortic aneurysm and aortic dissection2 tests
Fanconi renotubular syndrome 31 test
Farber disease2 tests
Fatal infantile hypertonic myofibrillar myopathy1 test
Floating-Harbor syndrome1 test
Fragile X syndrome2 tests
Frank-Ter Haar syndrome1 test
Freeman-Sheldon syndrome1 test
Frontotemporal dementia and/or amyotrophic lateral sclerosis 41 test
Fucosidosis2 tests
Fukuyama congenital muscular dystrophy2 tests
GLUT1 deficiency syndrome 11 test
GLUT1 deficiency syndrome 21 test
GM1 gangliosidosis1 test
GM1 gangliosidosis type 31 test
GM3 synthase deficiency1 test
GNE myopathy2 tests
Galactosylceramide beta-galactosidase deficiency2 tests
Gallbladder disease 41 test
Gamma-aminobutyric acid transaminase deficiency2 tests
Gaucher disease2 tests
Gaucher disease type I1 test
Gaucher disease, atypical, due to saposin C deficiency1 test
Geleophysic dysplasia 11 test
Generalized epilepsy with febrile seizures plus, type 11 test
Generalized epilepsy with febrile seizures plus, type 102 tests
Generalized epilepsy with febrile seizures plus, type 21 test
Generalized epilepsy with febrile seizures plus, type 91 test
Genitopatellar syndrome2 tests
Giant axonal neuropathy 13 tests
Gilbert syndrome1 test
Glaucoma 1, open angle, A1 test
Glaucoma 1, open angle, F1 test
Glaucoma 1, open angle, e1 test
Glaucoma 3A, primary open angle, congenital, juvenile, or adult onset1 test
Global developmental delay, progressive ataxia, and elevated glutamine1 test
Glomuvenous malformations1 test
Glucose 6 phosphate dehydrogenase deficiency1 test
Glutaric aciduria, type 11 test
Glycogen storage disease IXb1 test
Glycogen storage disease IXd2 tests
Glycogen storage disease XI1 test
Glycogen storage disease due to hepatic glycogen synthase deficiency1 test
Glycogen storage disease due to muscle beta-enolase deficiency1 test
Glycogen storage disease of heart, lethal congenital3 tests
Glycogen storage disease type III2 tests
Glycogen storage disease type X1 test
Glycogen storage disease, type II6 tests
Glycogen storage disease, type IV1 test
Glycogen storage disease, type V2 tests
Glycogen storage disease, type VII1 test
Gordon syndrome1 test
Gorlin syndrome1 test
Greenberg dysplasia1 test
Greig cephalopolysyndactyly syndrome2 tests
HNSHA due to aldolase A deficiency1 test
Haim-Munk syndrome1 test
Hay-Wells syndrome of ectodermal dysplasia1 test
Hecht syndrome1 test
Helsmoortel-Van der Aa Syndrome2 tests
Hennekam lymphangiectasia-lymphedema syndrome 12 tests
Hennekam lymphangiectasia-lymphedema syndrome 21 test
Hereditary disease1 test
Hereditary fructosuria1 test
Hereditary hearing loss and deafness1 test
Hereditary hemochromatosis1 test
Hereditary hemorrhagic telangiectasia type 13 tests
Hereditary lymphedema type I1 test
Hereditary motor and sensory neuropathy with optic atrophy3 tests
Hereditary motor and sensory neuropathy, Okinawa type2 tests
Hereditary pancreatitis1 test
Hereditary sensory neuropathy type IE1 test
Hereditary spastic paraplegia 101 test
Hereditary spastic paraplegia 121 test
Hereditary spastic paraplegia 131 test
Hereditary spastic paraplegia 151 test
Hereditary spastic paraplegia 181 test
Hereditary spastic paraplegia 21 test
Hereditary spastic paraplegia 261 test
Hereditary spastic paraplegia 391 test
Hereditary spastic paraplegia 3A1 test
Hereditary spastic paraplegia 5A1 test
Hereditary spastic paraplegia 61 test
Hereditary spastic paraplegia 73 tests
Hereditary spastic paraplegia 81 test
Hereditary spastic paraplegia 9A1 test
Hermansky-Pudlak syndrome 13 tests
Hermansky-Pudlak syndrome 23 tests
Hermansky-Pudlak syndrome 33 tests
Hermansky-Pudlak syndrome 43 tests
Hermansky-Pudlak syndrome 53 tests
Hermansky-Pudlak syndrome 63 tests
Hermansky-Pudlak syndrome 73 tests
Hermansky-Pudlak syndrome 81 test
Hermansky-Pudlak syndrome 93 tests
Heterotopia, periventricular, autosomal recessive1 test
Hunter-McAlpine craniosynostosis1 test
Hurler syndrome3 tests
Hyaline fibromatosis syndrome2 tests
Hyper-IgE recurrent infection syndrome 1, autosomal dominant1 test
Hypercholanemia, familial1 test
Hypercoagulability1 test
Hyperimmunoglobulin D with periodic fever1 test
Hyperimmunoglobulin E recurrent infection syndrome, autosomal recessive1 test
Hyperphosphatasia with mental retardation syndrome 11 test
Hyperphosphatasia with mental retardation syndrome 21 test
Hyperproinsulinemia1 test
Hypertrophic cardiomyopathy 252 tests
Hypochondrogenesis2 tests
Hypochondroplasia1 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 13 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 17 with or without anosmia1 test
Hypogonadotropic hypogonadism 18 with or without anosmia1 test
Hypogonadotropic hypogonadism 19 with or without anosmia1 test
Hypogonadotropic hypogonadism 2 with or without anosmia1 test
Hypogonadotropic hypogonadism 20 with or without anosmia1 test
Hypogonadotropic hypogonadism 21 with or without anosmia1 test
Hypogonadotropic hypogonadism 22 with or without anosmia1 test
Hypogonadotropic hypogonadism 4 with or without anosmia1 test
Hypogonadotropic hypogonadism 5 with or without anosmia1 test
Hypogonadotropic hypogonadism 6 with or without anosmia1 test
Hypogonadotropic hypogonadism 7 with or without anosmia1 test
Hypogonadotropic hypogonadism 8 with or without anosmia1 test
Hypogonadotropic hypogonadism 9 with or without anosmia1 test
Hypokalemic periodic paralysis 11 test
Hypokalemic periodic paralysis, type 21 test
Hypomyelinating leukodystrophy 8, with or without oligodontia and/or hypogonadotropic hypogonadism1 test
Hypomyelination, global cerebral1 test
Hypoplastic left heart syndrome 21 test
Hypothyroidism, congenital, nongoitrous, 51 test
Hypotonia, infantile, with psychomotor retardation and characteristic facies 12 tests
Hypotrichosis-lymphedema-telangiectasia syndrome2 tests
Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome1 test
Idiopathic Pulmonary Fibrosis2 tests
Idiopathic generalized epilepsy1 test
Immunodeficiency-centromeric instability-facial anomalies syndrome 41 test
Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 11 test
Infantile cerebellar-retinal degeneration2 tests
Infantile nephronophthisis3 tests
Infantile neuroaxonal dystrophy1 test
Infantile onset spinocerebellar ataxia2 tests
Infantile-onset ascending hereditary spastic paralysis1 test
Insulin-dependent diabetes mellitus secretory diarrhea syndrome1 test
Intellectual developmental disorder with seizures and language delay1 test
Intellectual disability, autosomal dominant 561 test
Intestinal pseudoobstruction, neuronal, chronic idiopathic, X-linked1 test
Iris hypoplasia with glaucoma1 test
Isolated lutropin deficiency1 test
Jackson-Weiss syndrome2 tests
Jalili syndrome1 test
Jervell and Lange-Nielsen syndrome 13 tests
Jervell and Lange-Nielsen syndrome 23 tests
Joubert syndrome1 test
Joubert syndrome 11 test
Joubert syndrome 101 test
Joubert syndrome 281 test
Joubert syndrome 42 tests
Joubert syndrome 61 test
Joubert syndrome 91 test
Joubert syndrome with hepatic defect1 test
Juvenile myopathy, encephalopathy, lactic acidosis AND stroke5 tests
Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome3 tests
KBG syndrome2 tests
Kabuki syndrome3 tests
Kabuki syndrome 12 tests
Kabuki syndrome 21 test
Kallmann syndrome 31 test
Kartagener syndrome2 tests
King Denborough syndrome1 test
Kleefstra syndrome1 test
Kleefstra syndrome 11 test
Koolen-de Vries syndrome2 tests
Kufor-Rakeb syndrome1 test
L1 syndrome1 test
LEOPARD syndrome 23 tests
Lafora disease1 test
Late-onset retinal degeneration2 tests
Leber congenital amaurosis1 test
Leber congenital amaurosis 12 tests
Leber congenital amaurosis 101 test
Leber congenital amaurosis 111 test
Leber congenital amaurosis 122 tests
Leber congenital amaurosis 132 tests
Leber congenital amaurosis 142 tests
Leber congenital amaurosis 152 tests
Leber congenital amaurosis 162 tests
Leber congenital amaurosis 171 test
Leber congenital amaurosis 182 tests
Leber congenital amaurosis 21 test
Leber congenital amaurosis 32 tests
Leber congenital amaurosis 43 tests
Leber congenital amaurosis 52 tests
Leber congenital amaurosis 62 tests
Leber congenital amaurosis 71 test
Leber congenital amaurosis 82 tests
Leber congenital amaurosis 91 test
Leber hereditary optic neuropathy4 tests
Left ventricular noncompaction 12 tests
Left ventricular noncompaction 103 tests
Left ventricular noncompaction 63 tests
Left ventricular noncompaction 82 tests
Legius syndrome1 test
Leigh syndrome2 tests
Leptin deficiency or dysfunction1 test
Leptin receptor deficiency1 test
Lethal arthrogryposis with anterior horn cell disease2 tests
Lethal congenital contractural syndrome 31 test
Lethal congenital contracture syndrome 12 tests
Lethal congenital contracture syndrome 101 test
Lethal congenital contracture syndrome 111 test
Lethal congenital contracture syndrome 21 test
Lethal congenital contracture syndrome 41 test
Lethal congenital contracture syndrome 52 tests
Lethal congenital contracture syndrome 61 test
Lethal congenital contracture syndrome 71 test
Lethal congenital contracture syndrome 81 test
Lethal congenital contracture syndrome 91 test
Lethal multiple pterygium syndrome3 tests
Lethal tight skin contracture syndrome1 test
Leucine-induced hypoglycemia1 test
Leukodystrophy, hypomyelinating, 61 test
Leukoencephalopathy with dystonia and motor neuropathy1 test
Liddle syndrome 12 tests
Liebenberg syndrome1 test
Lig4 syndrome1 test
Limb-girdle muscular dystrophy, type 1E1 test
Limb-girdle muscular dystrophy, type 1F1 test
Limb-girdle muscular dystrophy, type 1G1 test
Limb-girdle muscular dystrophy, type 2A1 test
Limb-girdle muscular dystrophy, type 2J1 test
Limb-girdle muscular dystrophy, type 2L2 tests
Limb-girdle muscular dystrophy, type 2Q1 test
Limb-girdle muscular dystrophy, type 2S1 test
Limb-girdle muscular dystrophy-dystroglycanopathy, type C11 test
Limb-girdle muscular dystrophy-dystroglycanopathy, type C21 test
Limb-girdle muscular dystrophy-dystroglycanopathy, type C31 test
Limb-girdle muscular dystrophy-dystroglycanopathy, type C42 tests
Limb-girdle muscular dystrophy-dystroglycanopathy, type C53 tests
Limb-girdle muscular dystrophy-dystroglycanopathy, type C91 test
Lipodystrophy, congenital generalized, type 41 test
Lissencephaly 2, X-linked1 test
Lissencephaly, X-linked1 test
Loeys-Dietz syndrome 11 test
Loeys-Dietz syndrome 22 tests
Loeys-Dietz syndrome 32 tests
Loeys-Dietz syndrome 42 tests
Loeys-Dietz syndrome 51 test
Long QT syndrome 12 tests
Long QT syndrome 102 tests
Long QT syndrome 112 tests
Long QT syndrome 122 tests
Long QT syndrome 132 tests
Long QT syndrome 142 tests
Long QT syndrome 152 tests
Long QT syndrome 23 tests
Long QT syndrome 34 tests
Long QT syndrome 52 tests
Long QT syndrome 62 tests
Long QT syndrome 92 tests
Low CSF 5-methyltetrahydrofolate1 test
Low phospholipid associated cholelithiasis1 test
Lucey-Driscoll syndrome1 test
Lymphangiomyomatosis1 test
Lymphatic malformation 31 test
Lymphedema, hereditary, ID1 test
Lymphedema, hereditary, III1 test
Lymphedema, primary, with myelodysplasia1 test
Lysinuric protein intolerance2 tests
Lysosomal acid lipase deficiency3 tests
MASA syndrome1 test
MASS syndrome1 test
MERRF syndrome4 tests
MPI-CDG1 test
MYH7-related late-onset scapuloperoneal muscular dystrophy4 tests
Macrocephaly, macrosomia, facial dysmorphism syndrome1 test
Macular corneal dystrophy1 test
Macular degeneration, X-linked atrophic3 tests
Macular dystrophy with central cone involvement1 test
Macular dystrophy, patterned, 13 tests
Macular dystrophy, patterned, 21 test
Macular dystrophy, vitelliform, 41 test
Macular dystrophy, vitelliform, 51 test
Macular dystrophy, vitelliform, adult-onset3 tests
Majeed syndrome1 test
Malignant hyperthermia, susceptibility to, 11 test
Mandibuloacral dysplasia with type B lipodystrophy1 test
Marden-Walker syndrome1 test
Marfan syndrome4 tests
Marinesco-Sjögren syndrome2 tests
Mast syndrome1 test
Maternally-inherited spastic paraplegia4 tests
Maturity-onset diabetes of the young type 41 test
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 11 test
Maturity-onset diabetes of the young, type 101 test
Maturity-onset diabetes of the young, type 111 test
Maturity-onset diabetes of the young, type 131 test
Maturity-onset diabetes of the young, type 141 test
Maturity-onset diabetes of the young, type 21 test
Maturity-onset diabetes of the young, type 31 test
Meckel syndrome type 11 test
Meckel syndrome type 61 test
Meckel syndrome, type 21 test
Medium-chain acyl-coenzyme A dehydrogenase deficiency2 tests
Megaconial type congenital muscular dystrophy1 test
Menkes kinky-hair syndrome2 tests
Mental retardation 49, X-linked2 tests
Mental retardation X-linked with cerebellar hypoplasia and distinctive facial appearance1 test
Mental retardation, CASK-related, X-linked2 tests
Mental retardation, X-linked 11 test
Mental retardation, X-linked 1021 test
Mental retardation, X-linked 981 test
Mental retardation, X-linked 991 test
Mental retardation, X-linked 99, syndromic, female-restricted1 test
Mental retardation, X-linked, syndromic, Hedera type1 test
Mental retardation, autosomal dominant 11 test
Mental retardation, autosomal dominant 141 test
Mental retardation, autosomal dominant 151 test
Mental retardation, autosomal dominant 161 test
Mental retardation, autosomal dominant 271 test
Mental retardation, autosomal dominant 312 tests
Mental retardation, autosomal dominant 382 tests
Mental retardation, autosomal dominant 421 test
Mental retardation, autosomal dominant 51 test
Mental retardation, autosomal dominant 61 test
Mental retardation, autosomal dominant 71 test
Mental retardation, autosomal recessive 422 tests
Mental retardation, stereotypic movements, epilepsy, and/or cerebral malformations1 test
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-linked1 test
Merosin deficient congenital muscular dystrophy1 test
Metachromatic leukodystrophy2 tests
Metatrophic dysplasia1 test
Mevalonic aciduria1 test
Microcephaly with or without chorioretinopathy, lymphedema, or mental retardation1 test
Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy1 test
Microcephaly-capillary malformation syndrome1 test
Microcornea, rod-cone dystrophy, cataract, and posterior staphyloma1 test
Microphthalmia, isolated 52 tests
Microphthalmia, isolated, with coloboma 101 test
Microspherophakia1 test
Minicore myopathy with external ophthalmoplegia1 test
Mitochondrial DNA depletion syndrome 1 (MNGIE type)3 tests
Mitochondrial DNA depletion syndrome 112 tests
Mitochondrial DNA depletion syndrome 12a (cardiomyopathic type), autosomal dominant2 tests
Mitochondrial DNA depletion syndrome 12b (cardiomyopathic type), autosomal recessive2 tests
Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)2 tests
Mitochondrial DNA depletion syndrome 14 (cardioencephalomyopathic type)1 test
Mitochondrial DNA depletion syndrome 15 (hepatocerebral type)1 test
Mitochondrial DNA depletion syndrome 23 tests
Mitochondrial DNA depletion syndrome 4B, MNGIE type3 tests
Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria)3 tests
Mitochondrial DNA depletion syndrome 8B (MNGIE type)2 tests
Mitochondrial DNA depletion syndrome 9 (encephalomyopathic with methylmalonic aciduria)2 tests
Mitochondrial DNA depletion syndrome, encephalomyopathic form, with renal tubulopathy3 tests
Mitochondrial DNA-Associated Leigh Syndrome and NARP4 tests
Mitochondrial DNA-depletion syndrome 3, hepatocerebral3 tests
Mitochondrial complex I deficiency1 test
Mitochondrial complex IV deficiency4 tests
Mitochondrial diseases4 tests
Mitochondrial myopathy4 tests
Mitochondrial trifunctional protein deficiency2 tests
Miyoshi muscular dystrophy 12 tests
Miyoshi muscular dystrophy 31 test
Molybdenum cofactor deficiency, complementation group A1 test
Molybdenum cofactor deficiency, complementation group B1 test
Mononeuropathy of the median nerve, mild2 tests
Mowat-Wilson syndrome1 test
Mucolipidosis type II3 tests
Mucolipidosis type III gamma1 test
Mucolipidosis type IV1 test
Mucopolysaccharidosis type 62 tests
Mucopolysaccharidosis type 73 tests
Mucopolysaccharidosis, MPS-II3 tests
Mucopolysaccharidosis, MPS-III-A2 tests
Mucopolysaccharidosis, MPS-III-B2 tests
Mucopolysaccharidosis, MPS-III-C2 tests
Mucopolysaccharidosis, MPS-III-D2 tests
Mucopolysaccharidosis, MPS-IV-A3 tests
Mucopolysaccharidosis, MPS-IV-B1 test
Muenke syndrome1 test
Multiple acyl-CoA dehydrogenase deficiency1 test
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 cutaneous and mucosal venous malformations1 test
Multiple epiphyseal dysplasia1 test
Multiple fibrofolliculomas1 test
Multiple sulfatase deficiency2 tests
Multisystemic smooth muscle dysfunction syndrome1 test
Muscle AMP deaminase deficiency2 tests
Muscle eye brain disease1 test
Muscular dystrophy, congenital, due to integrin alpha-7 deficiency1 test
Muscular dystrophy, limb-girdle, type 2R1 test
Muscular dystrophy, limb-girdle, type 2W1 test
Muscular dystrophy, limb-girdle, type 2y1 test
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 11 test
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, 121 test
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, 81 test
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, 121 test
Muscular dystrophy-dystroglycanopathy (limb-girdle), type c, 141 test
Muscular dystrophy-dystroglycanopathy (limb-girdle), type c, 71 test
Myasthenia, limb-girdle, familial2 tests
Myasthenic syndrome, congenital, 11, associated with acetylcholine receptor deficiency2 tests
Myasthenic syndrome, congenital, 141 test
Myasthenic syndrome, congenital, 20, presynaptic2 tests
Myasthenic syndrome, congenital, 21, presynaptic1 test
Myasthenic syndrome, congenital, 2a, slow-channel2 tests
Myasthenic syndrome, congenital, 2c, associated with acetylcholine receptor deficiency2 tests
Myasthenic syndrome, congenital, 3a, slow-channel1 test
Myasthenic syndrome, congenital, 3c, associated with acetylcholine receptor deficiency1 test
Myasthenic syndrome, congenital, 4a, slow-channel1 test
Myasthenic syndrome, congenital, 4b, fast-channel1 test
Myasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiency2 tests
Myasthenic syndrome, slow-channel congenital2 tests
Myoclonic dystonia 111 test
Myoclonic epilepsy, familial infantile1 test
Myoclonic-atonic epilepsy1 test
Myoclonus, familial, 21 test
Myofibrillar myopathy 11 test
Myofibrillar myopathy 31 test
Myofibrillar myopathy, BAG3-related3 tests
Myofibrillar myopathy, ZASP-related3 tests
Myofibrillar myopathy, filamin C-related1 test
Myoglobinuria, acute recurrent, autosomal recessive1 test
Myoglobinuria, recurrent3 tests
Myopathy with lactic acidosis, hereditary1 test
Myopathy with postural muscle atrophy, X-linked2 tests
Myopathy, actin, congenital, with cores2 tests
Myopathy, areflexia, respiratory distress, and dysphagia, early-onset1 test
Myopathy, centronuclear, 12 tests
Myopathy, centronuclear, 21 test
Myopathy, centronuclear, 31 test
Myopathy, centronuclear, 41 test
Myopathy, centronuclear, 51 test
Myopathy, congenital, compton-north2 tests
Myopathy, distal, 14 tests
Myopathy, distal, 41 test
Myopathy, distal, with anterior tibial onset1 test
Myopathy, early-onset, with fatal cardiomyopathy1 test
Myopathy, mitochondrial progressive, with congenital cataract, hearing loss, and developmental delay1 test
Myopathy, myofibrillar, 9, with early respiratory failure1 test
Myopathy, myosin storage, autosomal recessive3 tests
Myopathy, proximal, and ophthalmoplegia2 tests
Myopathy, reducing body, X-linked, childhood-onset2 tests
Myopathy, reducing body, X-linked, early-onset, severe2 tests
Myopathy, vacuolar, with casq1 aggregates1 test
Myosclerosis, autosomal recessive1 test
Myosin storage myopathy4 tests
Myotonia levior1 test
NARP syndrome1 test
Nail-patella syndrome1 test
Navajo neurohepatopathy2 tests
Naxos disease2 tests
Nemaline myopathy 12 tests
Nemaline myopathy 101 test
Nemaline myopathy 22 tests
Nemaline myopathy 32 tests
Nemaline myopathy 42 tests
Nemaline myopathy 51 test
Nemaline myopathy 61 test
Nemaline myopathy 71 test
Nemaline myopathy 81 test
Nemaline myopathy 92 tests
Neonatal ichthyosis-sclerosing cholangitis syndrome1 test
Neonatal intrahepatic cholestasis caused by citrin deficiency1 test
Nephronophthisis 11 test
Nephronophthisis 191 test
Nephronophthisis 31 test
Nephronophthisis 41 test
Nephropathic cystinosis1 test
Neurodegeneration with brain iron accumulation 53 tests
Neurodevelopmental disorder and language delay with or without structural brain abnormalities1 test
Neurodevelopmental disorder with cerebellar atrophy and with or without seizures2 tests
Neurodevelopmental disorder with hypotonia, seizures, and absent language1 test
Neurodevelopmental disorder with involuntary movements2 tests
Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant1 test
Neurodevelopmental disorder with poor language and loss of hand skills2 tests
Neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures1 test
Neurofibroma1 test
Neurogenic scapuloperoneal syndrome, Kaeser type1 test
Neuromuscular disease, congenital, with uniform type 1 fiber1 test
Neuronal ceroid lipofuscinosis3 tests
Neuronal ceroid lipofuscinosis 11 test
Neuronal ceroid lipofuscinosis 102 tests
Neuronal ceroid lipofuscinosis 34 tests
Neuronal ceroid lipofuscinosis 52 tests
Neuronal ceroid lipofuscinosis 62 tests
Neuronal ceroid lipofuscinosis 72 tests
Neuronal ceroid lipofuscinosis 82 tests
Neuronopathy, distal hereditary motor, type viia2 tests
Neutral lipid storage myopathy1 test
Nicolaides-Baraitser syndrome2 tests
Niemann-Pick disease type C12 tests
Niemann-Pick disease, type A3 tests
Niemann-Pick disease, type B2 tests
Niemann-Pick disease, type C22 tests
Night blindness, congenital stationary, type 1g1 test
Night blindness, congenital stationary, type 1h1 test
Non-acquired combined pituitary hormone deficiency with spine abnormalities1 test
Non-syndromic X-linked intellectual disability2 tests
Noonan syndrome1 test
Noonan syndrome 14 tests
Noonan syndrome 101 test
Noonan syndrome 32 tests
Noonan syndrome 42 tests
Noonan syndrome 54 tests
Noonan syndrome 62 tests
Noonan syndrome 73 tests
Noonan syndrome 82 tests
Noonan syndrome 91 test
Noonan syndrome with multiple lentigines2 tests
Noonan syndrome-like disorder with loose anagen hair 12 tests
Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia2 tests
Norman-Roberts syndrome1 test
Nuclearly-encoded mitochondrial complex V (ATP synthase) deficiency 21 test
Occult macular dystrophy2 tests
Ocular albinism, type I1 test
Oculocutaneous albinism type 31 test
Oculocutaneous albinism type 41 test
Oculopharyngeal muscular dystrophy1 test
Oguchi disease1 test
Oguchi disease 21 test
Opitz GBBB syndrome, type I2 tests
Optic atrophy 32 tests
Optic atrophy 71 test
Optic atrophy 91 test
Optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy1 test
Optic nerve hypoplasia1 test
Ornithine carbamoyltransferase deficiency1 test
Orofaciodigital syndrome I2 tests
Osteogenesis imperfecta2 tests
Otopalatodigital Spectrum Disorders1 test
Otospondylomegaepiphyseal dysplasia, autosomal dominant2 tests
PAFAH1B1-Associated Lissencephaly/Subcortical Band Heterotopia1 test
POLG-related disorders1 test
PTEN hamartoma tumor syndrome2 tests
Pallister-Hall syndrome1 test
Paramyotonia congenita of von Eulenburg2 tests
Partington syndrome1 test
Paternal uniparental disomy of chromosome 142 tests
Pearson syndrome1 test
Pelizaeus-Merzbacher disease2 tests
Pena-Shokeir syndrome type I2 tests
Pendred syndrome1 test
Periventricular nodular heterotopia 12 tests
Peroxisomal acyl-CoA oxidase deficiency1 test
Peroxisome biogenesis disorder 10A3 tests
Peroxisome biogenesis disorder 10b1 test
Peroxisome biogenesis disorder 11A3 tests
Peroxisome biogenesis disorder 11B1 test
Peroxisome biogenesis disorder 12A3 tests
Peroxisome biogenesis disorder 13A3 tests
Peroxisome biogenesis disorder 14B1 test
Peroxisome biogenesis disorder 1A (Zellweger)2 tests
Peroxisome biogenesis disorder 2A (Zellweger)3 tests
Peroxisome biogenesis disorder 2B1 test
Peroxisome biogenesis disorder 3A3 tests
Peroxisome biogenesis disorder 4B1 test
Peroxisome biogenesis disorder 4a (zellweger)2 tests
Peroxisome biogenesis disorder 5B2 tests
Peroxisome biogenesis disorder 5a (zellweger)2 tests
Peroxisome biogenesis disorder 6A3 tests
Peroxisome biogenesis disorder 6B1 test
Peroxisome biogenesis disorder 7A3 tests
Peroxisome biogenesis disorder 7B1 test
Peroxisome biogenesis disorder 8A2 tests
Peroxisome biogenesis disorder 8B1 test
Peroxisome biogenesis disorder 9B1 test
Peroxisome biogenesis disorder type 3B1 test
Peroxisome biogenesis disorders2 tests
Peroxisome biogenesis disorders, Zellweger syndrome spectrum2 tests
Perrault syndrome 11 test
Perrault syndrome 21 test
Perrault syndrome 31 test
Perrault syndrome 41 test
Perrault syndrome 51 test
Perry syndrome1 test
Pfeiffer syndrome2 tests
Phenylketonuria1 test
Phosphoglycerate dehydrogenase deficiency1 test
Phosphoglycerate kinase 1 deficiency1 test
Phytanic acid storage disease1 test
Pigmentary retinal dystrophy3 tests
Pigmented paravenous chorioretinal atrophy1 test
Pitt-Hopkins syndrome2 tests
Pitt-Hopkins-like syndrome 11 test
Pitt-Hopkins-like syndrome 21 test
Pituitary hormone deficiency, combined 21 test
Pneumothorax, primary spontaneous1 test
Poikiloderma with neutropenia1 test
Polycystic kidney disease 21 test
Polymicrogyria with or without vascular-type ehlers-danlos syndrome1 test
Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract1 test
Pontocerebellar hypoplasia type 11 test
Pontocerebellar hypoplasia type 2A1 test
Pontocerebellar hypoplasia type 81 test
Pontocerebellar hypoplasia, type 1b1 test
Postaxial polydactyly type A11 test
Posterior column ataxia-retinitis pigmentosa syndrome1 test
Prader-Willi syndrome3 tests
Primary autosomal recessive microcephaly 21 test
Primary ciliary dyskinesia 232 tests
Primary ciliary dyskinesia 242 tests
Primary ciliary dyskinesia 252 tests
Primary dilated cardiomyopathy1 test
Primary familial hypertrophic cardiomyopathy4 tests
Primary open angle glaucoma1 test
Primary pulmonary hypertension 22 tests
Primary pulmonary hypertension 32 tests
Primary pulmonary hypertension 42 tests
Progressive external ophthalmoplegia1 test
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 61 test
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 11 test
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 31 test
Progressive familial heart block type IB2 tests
Progressive familial heart block, type 1A4 tests
Progressive familial intrahepatic cholestasis 21 test
Progressive familial intrahepatic cholestasis 31 test
Progressive familial intrahepatic cholestasis 41 test
Progressive myoclonus epilepsy with ataxia1 test
Progressive myositis ossificans2 tests
Progressive sclerosing poliodystrophy3 tests
Proprotein convertase 1/3 deficiency1 test
Proteasome-associated autoinflammatory syndrome 12 tests
Proteus-like syndrome1 test
Pseudoxanthoma elasticum1 test
Pulmonary disease, chronic obstructive, susceptibility to2 tests
Pulmonary fibrosis and/or bone marrow failure, telomere-related, 13 tests
Pulmonary fibrosis and/or bone marrow failure, telomere-related, 21 test
Pulmonary fibrosis and/or bone marrow failure, telomere-related, 33 tests
Pulmonary fibrosis and/or bone marrow failure, telomere-related, 43 tests
Pulmonary venoocclusive disease 1, autosomal dominant2 tests
Pustular psoriasis, generalized1 test
Pyknodysostosis1 test
Pyogenic arthritis-pyoderma gangrenosum-acne syndrome1 test
Pyridoxal phosphate-responsive seizures2 tests
Pyridoxine-dependent epilepsy2 tests
Pyruvate dehydrogenase lipoic acid synthetase deficiency1 test
Pyruvate kinase deficiency of red cells1 test
Rahman syndrome1 test
Renal carnitine transport defect2 tests
Renal cysts and diabetes syndrome1 test
Renal tubular acidosis with progressive nerve deafness1 test
Renal tubular acidosis, proximal, with ocular abnormalities and mental retardation1 test
Renpenning syndrome 11 test
Retinal cone dystrophy 3A1 test
Retinal cone dystrophy 41 test
Retinal dystrophy, iris coloboma, and comedogenic acne syndrome1 test
Retinal macular dystrophy type 21 test
Retinitis Pigmentosa, Dominant1 test
Retinitis Pigmentosa, Recessive1 test
Retinitis pigmentosa1 test
Retinitis pigmentosa 11 test
Retinitis pigmentosa 101 test
Retinitis pigmentosa 111 test
Retinitis pigmentosa 122 tests
Retinitis pigmentosa 131 test
Retinitis pigmentosa 142 tests
Retinitis pigmentosa 152 tests
Retinitis pigmentosa 171 test
Retinitis pigmentosa 181 test
Retinitis pigmentosa 191 test
Retinitis pigmentosa 21 test
Retinitis pigmentosa 201 test
Retinitis pigmentosa 231 test
Retinitis pigmentosa 252 tests
Retinitis pigmentosa 262 tests
Retinitis pigmentosa 271 test
Retinitis pigmentosa 281 test
Retinitis pigmentosa 302 tests
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 482 tests
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 671 test
Retinitis pigmentosa 681 test
Retinitis pigmentosa 691 test
Retinitis pigmentosa 72 tests
Retinitis pigmentosa 7, digenic1 test
Retinitis pigmentosa 701 test
Retinitis pigmentosa 721 test
Retinitis pigmentosa 741 test
Retinitis pigmentosa 751 test
Retinitis pigmentosa 761 test
Retinitis pigmentosa 791 test
Retinitis pigmentosa 82 with or without situs inversus1 test
Retinitis pigmentosa 91 test
Retinitis pigmentosa, X-linked, and sinorespiratory infections, with or without deafness3 tests
Retinitis punctata albescens1 test
Rett syndrome5 tests
Rett syndrome, congenital variant1 test
Rigidity and multifocal seizure syndrome, lethal neonatal2 tests
Rippling muscle disease1 test
Rippling muscle disease 23 tests
Rolandic epilepsy-paroxysmal exercise-induced dystonia-writer's cramp syndrome1 test
Rubinstein-Taybi syndrome1 test
Russell-Silver syndrome3 tests
SCN2A-related generalized epilepsy with febrile seizures plus1 test
SLC35A2-CDG2 tests
SPASTIC PARAPLEGIA 621 test
SUDDEN INFANT DEATH SYNDROME2 tests
SYNGAP1-related developmental and epileptic encephalopathy1 test
Saethre-Chotzen syndrome2 tests
Saldino-Mainzer syndrome2 tests
Salla disease1 test
Sandhoff disease2 tests
Sarcotubular myopathy1 test
Scapuloperoneal myopathy, X-linked dominant2 tests
Schaaf-Yang syndrome1 test
Schuurs-hoeijmakers syndrome1 test
Schwannomatosis 11 test
Sclerosing cholangitis, neonatal1 test
Seizures, benign familial infantile, 31 test
Seizures, benign familial infantile, 51 test
Sengers syndrome2 tests
Senior-Loken syndrome 11 test
Senior-Loken syndrome 31 test
Senior-Loken syndrome 41 test
Senior-Loken syndrome 51 test
Senior-Loken syndrome 81 test
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis2 tests
Septo-optic dysplasia sequence1 test
Severe X-linked myotubular myopathy1 test
Severe autosomal recessive muscular dystrophy of childhood - North African type1 test
Severe myoclonic epilepsy in infancy2 tests
Short QT syndrome 13 tests
Short stature-pituitary and cerebellar defects-small sella turcica syndrome1 test
Short-rib thoracic dysplasia 14 with polydactyly1 test
Short-rib thoracic dysplasia 7 with or without polydactyly1 test
Shprintzen-Goldberg syndrome2 tests
Sialic acid storage disease, severe infantile type1 test
Sialidosis type 22 tests
Sialidosis type I1 test
Sick sinus syndrome 1, autosomal recessive4 tests
Sick sinus syndrome 2, autosomal dominant2 tests
Sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay1 test
Simpson-Golabi-Behmel syndrome type 12 tests
Simpson-Golabi-Behmel syndrome, type 22 tests
Sinoatrial node dysfunction and deafness1 test
Sitosterolemia 11 test
Sitosterolemia 21 test
Skeletal dysplasia1 test
Skin/hair/eye pigmentation, variation in, 41 test
Smith-Lemli-Opitz syndrome3 tests
Smith-Magenis syndrome1 test
Sorsby fundus dystrophy1 test
Sotos syndrome3 tests
Sotos syndrome 11 test
Sotos syndrome 21 test
Spastic paraplegia 11, autosomal recessive1 test
Spastic paraplegia 172 tests
Spastic paraplegia 28, autosomal recessive1 test
Spastic paraplegia 30, autosomal recessive1 test
Spastic paraplegia 31, autosomal dominant2 tests
Spastic paraplegia 33, autosomal dominant1 test
Spastic paraplegia 351 test
Spastic paraplegia 4, autosomal dominant1 test
Spastic paraplegia 42, autosomal dominant1 test
Spastic paraplegia 43, autosomal recessive1 test
Spastic paraplegia 44, autosomal recessive1 test
Spastic paraplegia 45, autosomal recessive1 test
Spastic paraplegia 46, autosomal recessive1 test
Spastic paraplegia 47, autosomal recessive1 test
Spastic paraplegia 48, autosomal recessive1 test
Spastic paraplegia 49, autosomal recessive1 test
Spastic paraplegia 50, autosomal recessive1 test
Spastic paraplegia 51, autosomal recessive1 test
Spastic paraplegia 52, autosomal recessive1 test
Spastic paraplegia 53, autosomal recessive1 test
Spastic paraplegia 54, autosomal recessive1 test
Spastic paraplegia 55, autosomal recessive1 test
Spastic paraplegia 56, autosomal recessive1 test
Spastic paraplegia 57, autosomal recessive1 test
Spastic paraplegia 64, autosomal recessive1 test
Spastic paraplegia 72, autosomal dominant1 test
Spastic paraplegia 72, autosomal recessive1 test
Spastic paraplegia 73, autosomal dominant1 test
Spastic paraplegia 75, autosomal recessive1 test
Spastic paraplegia 76, autosomal recessive1 test
Spastic paraplegia 77, autosomal recessive1 test
Spastic paraplegia 78, autosomal recessive1 test
Spastic paraplegia 79, autosomal recessive1 test
Spastic paraplegia 9b, autosomal recessive1 test
Spastic paraplegia and psychomotor retardation with or without seizures1 test
Spastic paraplegia, intellectual disability, nystagmus, and obesity1 test
Spastic paraplegia, optic atrophy, and neuropathy1 test
Spheroid body myopathy1 test
Sphingomyelin/cholesterol lipidosis2 tests
Spinal muscular atrophy2 tests
Spinal muscular atrophy, X-linked 22 tests
Spinal muscular atrophy, distal, autosomal recessive, 13 tests
Spinal muscular atrophy, distal, autosomal recessive, 52 tests
Spinal muscular atrophy, lower extremity predominant 1, autosomal dominant1 test
Spinal muscular atrophy, lower extremity-predominant, 2A, autosomal dominant2 tests
Spinocerebellar ataxia 72 tests
Spinocerebellar ataxia type 12 tests
Spinocerebellar ataxia type 22 tests
Spinocerebellar ataxia type 62 tests
Spinocerebellar ataxia, autosomal recessive 121 test
Spinocerebellar ataxia, autosomal recessive 211 test
Spinocerebellar ataxia, autosomal recessive 241 test
Spinocerebellar ataxia, autosomal recessive 81 test
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 21 test
Split-hand/foot malformation 42 tests
Spondylocheirodysplasia, Ehlers-Danlos syndrome-like2 tests
Spondyloepiphyseal dysplasia congenita1 test
Stargardt Disease 31 test
Stargardt disease 11 test
Steinert myotonic dystrophy syndrome1 test
Stickler syndrome type 21 test
Stomatin-deficient cryohydrocytosis with neurologic defects2 tests
Stromme syndrome2 tests
Succinate-semialdehyde dehydrogenase deficiency1 test
Succinyl-CoA acetoacetate transferase deficiency1 test
Supravalvar aortic stenosis2 tests
Surfactant metabolism dysfunction, pulmonary, 13 tests
Surfactant metabolism dysfunction, pulmonary, 23 tests
Surfactant metabolism dysfunction, pulmonary, 34 tests
Surfactant metabolism dysfunction, pulmonary, 43 tests
Surfactant metabolism dysfunction, pulmonary, 52 tests
Syndromic X-linked intellectual disability Snyder type1 test
Syndromic X-linked mental retardation, Cabezas type2 tests
Syndromic mental retardation, Nascimento type, X-linked1 test
Syndromic microphthalmia type 52 tests
TNF receptor-associated periodic fever syndrome (TRAPS)1 test
Tatton-Brown-rahman syndrome1 test
Tay-Sachs disease2 tests
Tay-Sachs disease, variant AB1 test
Telangiectasia, hereditary hemorrhagic, type 21 test
Telangiectasia, hereditary hemorrhagic, type 53 tests
Temple syndrome2 tests
Temple-Baraitser syndrome1 test
Tetralogy of Fallot1 test
Thanatophoric dysplasia type 13 tests
Thanatophoric dysplasia, type 21 test
Thrombophilia due to factor V Leiden1 test
Tibial muscular dystrophy1 test
Timothy syndrome3 tests
Trichohepatoenteric syndrome 11 test
Troyer syndrome1 test
Tuberous sclerosis 13 tests
Tuberous sclerosis 23 tests
Type 2 diabetes mellitus1 test
Tyrosinase-negative oculocutaneous albinism1 test
Tyrosinase-positive oculocutaneous albinism1 test
Tyrosinemia type I1 test
Ullrich congenital muscular dystrophy 11 test
Ullrich congenital muscular dystrophy 21 test
Uniparental disomy of 71 test
Unverricht-Lundborg syndrome1 test
Usher Syndrome, Type III1 test
Usher syndrome type 11 test
Usher syndrome type 1D1 test
Usher syndrome, type 1C1 test
Usher syndrome, type 1G1 test
Usher syndrome, type 1J1 test
Usher syndrome, type 2A1 test
Usher syndrome, type 2C1 test
Usher syndrome, type 2D1 test
Usher syndrome, type 3B2 tests
Van den Ende-Gupta syndrome1 test
Ventricular septal defect 31 test
Ventricular tachycardia, catecholaminergic polymorphic, 23 tests
Ventricular tachycardia, catecholaminergic polymorphic, 42 tests
Ventricular tachycardia, catecholaminergic polymorphic, 5, with or without muscle weakness3 tests
Very long chain acyl-CoA dehydrogenase deficiency2 tests
Vitelliform macular dystrophy type 22 tests
Vitreoretinochoroidopathy2 tests
Waardenburg syndrome type 11 test
Waardenburg syndrome type 2A1 test
Waardenburg syndrome type 2D1 test
Waardenburg syndrome type 2E1 test
Waardenburg syndrome type 31 test
Waardenburg syndrome type 4A1 test
Waardenburg syndrome type 4B1 test
Waardenburg syndrome type 4C2 tests
Warburg micro syndrome 21 test
Weaver syndrome2 tests
Welander distal myopathy1 test
West syndrome1 test
Wieacker-Wolff syndrome1 test
Wiedemann-Steiner syndrome2 tests
Williams syndrome1 test
Williams-Beuren region duplication syndrome1 test
Wilson-Turner X-linked mental retardation syndrome1 test
Wolff-Parkinson-White pattern3 tests
Wolfram syndrome 21 test
Wolfram-like syndrome, autosomal dominant2 tests
X inactivation, familial skewed, 11 test
X inactivation, familial skewed, 21 test
X-linked cone-rod dystrophy 31 test
Yao syndrome1 test
Yunis-Varon syndrome1 test
Zimmermann-Laband syndrome 11 test
isolated follicle-stimulating hormone deficiency1 test
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