Blueprint Genetics, Blueprint Genetics

General information

Blueprint Genetics, Blueprint Genetics

Haartmaninkatu 8
Biomedicum 1
Helsinki
Southern Finland
Finland - 00290
http://www.blueprintgenetics.com/
Organization ID: 500188

Personnel

View this laboratory in GTR

Assertion criteria

Level: Assertion criteria provided

Summary of submissions to ClinVar

Total submissions: 1219

Gene

GeneSubmissionsLast Updated
ABCC98Jan 15, 2016
ABCG51Jan 15, 2016
ACADVL2Jan 15, 2016
ACTA24Jan 15, 2016
ACTC16Jan 15, 2016
ACTN27Jan 15, 2016
ACVRL11Feb 2, 2015
AKAP920Jan 15, 2016
ANK221Jan 15, 2016
ANKRD15Jan 15, 2016
APOB4Feb 2, 2015
BAG37Jan 15, 2016
BMPR22Jan 15, 2016
BRAF2Jan 15, 2016
CACNA1C12Jan 15, 2016
CACNA2D13Jan 15, 2016
CACNB27Jan 15, 2016
CALM12Feb 2, 2015
CALR33Feb 2, 2015
CASQ21Jan 15, 2016
CAV31Jan 15, 2016
CBL1Feb 2, 2015
COL3A18Jan 15, 2016
COL5A17Jan 15, 2016
COL5A211Jan 15, 2016
CRYAB3Jan 15, 2016
CSRP36Jan 15, 2016
CTF12Jan 15, 2016
CTNNA314Jan 15, 2016
DES8Jan 15, 2016
DMD12Jan 15, 2016
DMPK3Jan 15, 2016
DPP64Jan 15, 2016
DSC216Jan 15, 2016
DSG222Jan 15, 2016
DSP62Jan 15, 2016
DTNA6Jan 15, 2016
ELANE1Feb 2, 2015
EMD2Jan 15, 2016
ENG2Jan 15, 2016
EYA41Jan 15, 2016
FBN155Jan 15, 2016
FBN211Jan 15, 2016
FHL13Jan 15, 2016
FHL25Jan 15, 2016
GATA55Jan 15, 2016
GLA4Jan 15, 2016
GLB11Mar 2, 2015
GPD1L3Jan 15, 2016
HCN45Jan 15, 2016
HFE5Jan 15, 2016
HRAS4Jan 15, 2016
ILK7Jan 15, 2016
INF21Feb 2, 2015
JPH210Jan 15, 2016
JUP13Jan 15, 2016
KCND32Jan 15, 2016
KCNE12Jan 15, 2016
KCNE21Feb 2, 2015
KCNH234Jan 15, 2016
KCNJ25Jan 15, 2016
KCNJ82Jan 15, 2016
KRAS1Aug 28, 2014
LAMA412Jan 15, 2016
LAMB22Jan 15, 2016
LAMP25Jan 15, 2016
LDB38Jan 15, 2016
LDLR7Jan 15, 2016
LMNA21Jan 15, 2016
LPL1Feb 2, 2015
MIB15Jan 15, 2016
MYBPC385Jan 15, 2016
MYH1110Jan 15, 2016
MYH624Jan 15, 2016
MYH761Jan 15, 2016
MYL26Jan 15, 2016
MYL37Jan 15, 2016
MYLK7Jan 15, 2016
MYLK22Jan 15, 2016
MYOM110Jan 15, 2016
MYPN12Jan 15, 2016
NEBL6Jan 15, 2016
NEXN10Jan 15, 2016
NOTCH114Jan 15, 2016
NPHS111Jan 15, 2016
NPHS23Jan 15, 2016
PDLIM33Jan 15, 2016
PKP223Jan 15, 2016
PLN3Jan 15, 2016
PRKAG27Jan 15, 2016
PRKG13Jan 15, 2016
PSEN21Feb 2, 2015
PTPN118Jan 15, 2016
RAF110Jan 15, 2016
RBM2021Jan 15, 2016
RYR255Jan 15, 2016
SCN1B2Jan 15, 2016
SCN3B2Jan 15, 2016
SCN4B1Aug 28, 2014
SCN5A47Jan 15, 2016
SCO21Jan 15, 2016
SDHA1Jan 15, 2016
SHOC22Jan 15, 2016
SKI5Jan 15, 2016
SLC2A101Jan 15, 2016
SLMAP1Jan 15, 2016
SMAD35Jan 15, 2016
SNTA15Jan 15, 2016
SOS14Jan 15, 2016
SYNE12Jan 15, 2016
SYNE25Jan 15, 2016
TAZ1Jan 15, 2016
TCAP3Jan 15, 2016
TGFB26Jan 15, 2016
TGFB32Jan 15, 2016
TGFBR15Jan 15, 2016
TGFBR27Jan 15, 2016
TMEM437Jan 15, 2016
TMPO3Feb 2, 2015
TNNC11Feb 2, 2015
TNNI38Jan 15, 2016
TNNT214Jan 15, 2016
TPM113Jan 15, 2016
TRIM635Jan 15, 2016
TRPC61Jan 15, 2016
TRPM411Jan 15, 2016
TSFM2Jan 15, 2016
TTN74Jan 15, 2016
TXNRD210Jan 15, 2016
VCL6Jan 15, 2016
WT14Jan 15, 2016

Condition

NameSubmissionsLast Updated
AV Block Third Degree Adverse Event1Feb 2, 2015
AV junctional rhythm1Feb 2, 2015
Andersen Tawil syndrome3Jan 15, 2016
Aortic valve disorder4Jan 15, 2016
Arrhythmogenic right ventricular cardiomyopathy58Jan 15, 2016
Arterial dissection6Jan 15, 2016
Atrial septal defect1Feb 2, 2015
Brugada syndrome20Jan 15, 2016
Cardiac arrest34Jan 15, 2016
Cardiac arrhythmia1Feb 2, 2015
Cardiac conduction defect, nonspecific3Jan 15, 2016
Cardio-facio-cutaneous syndrome3Jan 15, 2016
Cardiomyopathy27Jan 15, 2016
Cardiomyopathy, restrictive7Jan 15, 2016
Catecholaminergic polymorphic ventricular tachycardia type 130Jan 15, 2016
Channelopathies1Feb 2, 2015
Collapse (finding)4Feb 2, 2015
Congenital contractural arachnodactyly1Jan 15, 2016
Coronary heart disease1Feb 2, 2015
Costello syndrome4Jan 15, 2016
Cutaneous polyarteritis nodosa1Feb 2, 2015
Cyclical neutropenia1Feb 2, 2015
Danon disease1Jan 15, 2016
Diastolic dysfunction2Feb 2, 2015
Disproportionate tall stature2Aug 28, 2014
Ehlers-Danlos syndrome, classic type1Jan 15, 2016
Ehlers-Danlos syndrome, type 31Jan 15, 2016
Ehlers-Danlos syndrome, type 43Jan 15, 2016
Fabry disease4Jan 15, 2016
Familial abdominal aortic aneurysm 11Feb 2, 2015
Familial hypercholesterolemia10Jan 15, 2016
Familial hypertrophic cardiomyopathy 61Feb 2, 2015
Finnish congenital nephrotic syndrome3Feb 2, 2015
First degree atrioventricular block1Jan 15, 2016
Focal segmental glomerulosclerosis2Jan 15, 2016
Heart disease2Jan 15, 2016
Hemochromatosis type 15Jan 15, 2016
Hereditary hemorrhagic telangiectasia type 21Feb 2, 2015
Hereditary nephrotic syndrome5Jan 15, 2016
History of Sudden Cardiac Death1Feb 2, 2015
Hutchinson-Gilford progeria syndrome, childhood-onset1Mar 2, 2015
Hypercholesterolemia, autosomal dominant, type B1Feb 2, 2015
Left ventricular noncompaction cardiomyopathy42Jan 15, 2016
Loeys-Dietz syndrome19Jan 15, 2016
Long QT syndrome55Jan 15, 2016
Long QT syndrome 111Feb 2, 2015
Long QT syndrome 220Jan 15, 2016
Long QT syndrome 31Jan 15, 2016
Marfan syndrome58Jan 15, 2016
Marfanoid habitus8Jan 15, 2016
Multiple cafe-au-lait spots1Feb 2, 2015
Myofibrillar myopathy 11Jan 15, 2016
Nephrotic syndrome1Jan 15, 2016
Noonan syndrome15Jan 15, 2016
Noonan syndrome with multiple lentigines1Jan 15, 2016
Osler hemorrhagic telangiectasia syndrome1Jan 15, 2016
Paroxysmal atrial fibrillation3Jan 15, 2016
Paroxysmal familial ventricular fibrillation 116Jan 15, 2016
Pierson syndrome1Feb 2, 2015
Primary dilated cardiomyopathy199Jan 15, 2016
Primary familial hypertrophic cardiomyopathy349Jan 15, 2016
Primary pulmonary hypertension2Jan 15, 2016
Proteinuria10Jan 15, 2016
Pulmonary valve stenosis (rare)2Feb 2, 2015
Pulmonic stenosis1Feb 2, 2015
Right ventricular cardiomyopathy1Mar 2, 2015
Shprintzen-Goldberg syndrome1Jan 15, 2016
Sick sinus syndrome1Jan 15, 2016
Sitosterolemia1Jan 15, 2016
Skeletal myopathy2Jan 15, 2016
Subvalvular aortic stenosis1Feb 2, 2015
Sudden cardiac death14Jan 15, 2016
Supravalvar aortic stenosis1Feb 2, 2015
Thoracic aortic aneurysm and aortic dissection62Jan 15, 2016
Timothy syndrome1Jan 15, 2016
Trifascicular block on electrocardiogram1Feb 2, 2015
Ventricular extrasystoles2Feb 2, 2015
Ventricular fibrillation14Jan 15, 2016
Ventricular tachycardia14Jan 15, 2016
not provided4Feb 2, 2015
not specified59Jan 15, 2016
short QT syndrome2Feb 2, 2015

Testing in GTR

Disease nameNumber of tests
4-Hydroxyphenylpyruvate dioxygenase deficiency1 test
ACTH resistance1 test
AICAR transformylase/IMP cyclohydrolase deficiency1 test
Abnormality of neuronal migration1 test
Achromatopsia1 test
Acromesomelic dysplasia Hunter Thompson type1 test
Acromesomelic dysplasia Maroteaux type1 test
Acute pancreatitis1 test
Adams-Oliver syndrome2 tests
Adenine phosphoribosyltransferase deficiency1 test
Adenylosuccinate lyase deficiency1 test
Adult junctional epidermolysis bullosa1 test
Aicardi Goutieres syndrome2 tests
Alpha-1-antitrypsin deficiency2 tests
Alport syndrome3 tests
Alstrom syndrome1 test
Alternating hemiplegia of childhood1 test
Amelogenesis imperfecta, hypomaturation type IIA51 test
Amelogenesis imperfecta, hypomaturation type IIA61 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 IH1 test
Amyotrophic lateral sclerosis1 test
Androgen resistance syndrome1 test
Anophthalmia1 test
Anterior segment anomalies with or without cataract1 test
Aortic aneurysm1 test
Arginase deficiency1 test
Arrhythmogenic right ventricular cardiomyopathy4 tests
Arterial tortuosity1 test
Arterial tortuosity syndrome1 test
Arteriohepatic dysplasia2 tests
Ataxia-oculomotor apraxia type 11 test
Ataxia-telangiectasia syndrome1 test
Atrial fibrillation1 test
Atrial septal defect1 test
Atypical hemolytic uremic syndrome1 test
Autism spectrum disorder1 test
Autosomal recessive polycystic kidney disease2 tests
Bardet-Biedl syndrome3 tests
Bartter syndrome2 tests
Bernard Soulier syndrome2 tests
Bethlem myopathy1 test
Bietti crystalline corneoretinal dystrophy1 test
Biotinidase deficiency1 test
Bloom syndrome2 tests
Brachydactyly1 test
Brugada syndrome3 tests
Carcinoma of pancreas1 test
Cardiac arrhythmia1 test
Cardio-facio-cutaneous syndrome1 test
Cardiomyopathy1 test
Cardiomyopathy, restrictive3 tests
Carney complex1 test
Cataract1 test
Catecholaminergic polymorphic ventricular tachycardia3 tests
Cerebellar ataxia1 test
Cerebral cavernous malformation2 tests
Cerebral creatine deficiency syndrome2 tests
Charcot-Marie-Tooth disease1 test
Cholestasis, intrahepatic, of pregnancy 31 test
Cholesteryl ester storage disease1 test
Chondrodysplasia punctata1 test
Choroideremia1 test
Chronic granulomatous disease1 test
Chronic infantile neurological, cutaneous and articular syndrome1 test
Chronic pancreatitis1 test
Ch├ędiak-Higashi syndrome1 test
Ciliary dyskinesia5 tests
Citrullinemia type II1 test
Cleft lip/palate1 test
Cobalamin deficiency1 test
Cockayne syndrome1 test
Coenzyme Q10 deficiency, primary 11 test
Cohen syndrome1 test
Colorectal cancer1 test
Cone-rod dystrophy1 test
Congenital adrenal hyperplasia2 tests
Congenital central hypoventilation1 test
Congenital contractural arachnodactyly1 test
Congenital defect of folate absorption1 test
Congenital disorder of deglycosylation1 test
Congenital disorder of glycosylation3 tests
Congenital generalized lipodystrophy3 tests
Congenital glucose-galactose malabsorption1 test
Congenital hepatic fibrosis1 test
Congenital hypothyroidism1 test
Congenital ichthyosiform erythroderma1 test
Congenital lactase deficiency1 test
Congenital microvillous atrophy1 test
Congenital muscular dystrophy1 test
Congenital myasthenic syndrome1 test
Congenital neutropenia1 test
Congenital secretory diarrhea, chloride type1 test
Congenital secretory diarrhea, sodium type1 test
Congenital stationary night blindness1 test
Corneal dystrophy1 test
Costello syndrome1 test
Cranioectodermal dysplasia1 test
Craniometaphyseal dysplasia1 test
Craniosynostosis1 test
Crigler Najjar syndrome, type 11 test
Crigler-Najjar syndrome, type II1 test
Crouzon syndrome1 test
Cutis laxa2 tests
Cutis laxa, autosomal dominant 11 test
Cyclical neutropenia1 test
Cystic fibrosis4 tests
Cystinuria3 tests
De Lange syndrome2 tests
Deficiency of beta-ureidopropionase1 test
Deficiency of galactokinase2 tests
Deficiency of xanthine oxidase1 test
Dementia1 test
Dent's disease1 test
Dentinogenesis imperfecta - Shield's type II1 test
Diamond-Blackfan anemia3 tests
Diarrhea 5, with tufting enteropathy, congenital1 test
Diarrhea with Microvillus Atrophy1 test
Dilated cardiomyopathy3 tests
Disorder of fatty acid metabolism1 test
Disorder of organic acid metabolism2 tests
Disorder of the urea cycle metabolism2 tests
Distal arthrogryposis type 1A1 test
Distal myopathy1 test
Dubin-Johnson syndrome1 test
Dyskeratosis congenita1 test
Dysostosis multiplex1 test
Dystonia1 test
Ebstein anomaly of the tricuspid valve1 test
Ectopia lentis1 test
Ehlers-Danlos syndrome2 tests
Elliptocytosis1 test
Ellis-van Creveld Syndrome1 test
Emery-Dreifuss muscular dystrophy1 test
Epidermolysis bullosa1 test
Epilepsy, X-linked, with variable learning disabilities and behavior disorders1 test
Epileptic encephalopathy1 test
Episodic ataxia1 test
Fabry disease1 test
Familial Mediterranean fever1 test
Familial adenomatous polyposis 11 test
Familial amyloid nephropathy with urticaria AND deafness1 test
Familial cancer of breast1 test
Familial cold autoinflammatory syndrome 21 test
Familial cold autoinflammatory syndrome 31 test
Familial hemiplegic migraine1 test
Familial hemophagocytic lymphohistiocytosis1 test
Familial hypercholesterolemia2 tests
Familial hyperinsulinism1 test
Familial hypokalemia-hypomagnesemia1 test
Familial medullary thyroid carcinoma1 test
Familial pancreatic carcinoma1 test
Familial partial lipodystrophy2 tests
Fanconi anemia4 tests
Female pseudohermaphroditism1 test
Fluorouracil response1 test
Focal epilepsy2 tests
Frontotemporal dementia1 test
Galactosemia2 tests
Ganglioneuroma1 test
Gaucher disease1 test
Generalized epilepsy2 tests
Genetic predisposition4 tests
Gilbert's syndrome1 test
Glanzmann thrombasthenia2 tests
Glaucoma1 test
Glomuvenous malformations1 test
Glutaric aciduria, type 21 test
Glycogen storage disease4 tests
Glycogen storage disease, type II1 test
Gorlin syndrome1 test
Gray platelet syndrome1 test
Grebe syndrome1 test
Griscelli disease1 test
Growth abnormality1 test
Haddad syndrome1 test
Hemochromatosis type 11 test
Hemochromatosis type 2A1 test
Hemochromatosis type 2B1 test
Hemochromatosis type 31 test
Hemochromatosis type 41 test
Hemolytic-uremic syndrome1 test
Hemophilia1 test
Hereditary Cancer Syndrome1 test
Hereditary Paraganglioma-Pheochromocytoma Syndromes3 tests
Hereditary acrodermatitis enteropathica1 test
Hereditary breast and ovarian cancer syndrome1 test
Hereditary diffuse gastric cancer1 test
Hereditary disease4 tests
Hereditary factor IX deficiency disease1 test
Hereditary factor VIII deficiency disease1 test
Hereditary fructosuria2 tests
Hereditary hemochromatosis2 tests
Hereditary hemorrhagic telangiectasia type 11 test
Hereditary hemorrhagic telangiectasia type 21 test
Hereditary hemorrhagic telangiectasia type 31 test
Hereditary palmoplantar keratoderma1 test
Hereditary spherocytosis1 test
Hermansky-Pudlak syndrome4 tests
Heterotaxia1 test
Hidrotic ectodermal dysplasia syndrome1 test
Hirschsprung disease2 tests
Holoprosencephaly sequence1 test
Holt-Oram syndrome1 test
Homocystinuria2 tests
Hoyeraal Hreidarsson syndrome1 test
Hutchinson-Gilford syndrome1 test
Hyperimmunoglobulin D with periodic fever1 test
Hyperoxaluria2 tests
Hyperparathyroidism1 test
Hyperphenylalaninemia due to tetrahydrobiopterin deficiency1 test
Hyperphenylalaninemia, non-pku1 test
Hypertrophic cardiomyopathy3 tests
Hypogonadism with anosmia1 test
Hypohidrotic ectodermal dysplasia1 test
Hypomagnesemia 1, intestinal1 test
Hypomagnesemia 4, renal1 test
Hypomagnesemia 5, renal, with ocular involvement1 test
Hypomagnesemia 6, renal1 test
Hypomagnesemia, seizures, and mental retardation1 test
Hypophosphatasia1 test
Hypophosphatemic rickets2 tests
Hypoplastic left heart syndrome 11 test
I cell disease1 test
Idiopathic fibrosing alveolitis, chronic form2 tests
Infantile Refsum's disease1 test
Infertility1 test
Inherited bone marrow failure syndrome2 tests
Intestinal atresia1 test
Jeune thoracic dystrophy1 test
Joubert syndrome3 tests
Juvenile hemochromatosis1 test
Juvenile polyposis syndrome1 test
Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome1 test
Juvenile retinoschisis1 test
Kabuki syndrome1 test
Keratosis palmoplantaris papulosa1 test
Lafora disease1 test
Lamellar ichthyosis1 test
Leber congenital amaurosis1 test
Left ventricular noncompaction3 tests
Lesch-Nyhan syndrome1 test
Leukemia2 tests
Leukodystrophy1 test
Leukoencephalopathy1 test
Li-Fraumeni syndrome3 tests
Limb-girdle muscular dystrophy1 test
Lissencephaly1 test
Loeys-Dietz syndrome1 test
Long QT syndrome3 tests
Lung cancer1 test
Lymphangiomyomatosis1 test
Lymphatic malformation1 test
Lymphoproliferative syndrome1 test
Lynch syndrome2 tests
Macrocephalus1 test
Macular dystrophy1 test
Male pseudohermaphroditism1 test
Maple syrup urine disease1 test
Marfan syndrome1 test
Maturity onset diabetes mellitus in young1 test
Meckel-Gruber syndrome2 tests
Medium-chain acyl-coenzyme A dehydrogenase deficiency1 test
Medulloblastoma1 test
Meier-Gorlin syndrome3 tests
Melanoma1 test
Melnick-Fraser syndrome3 tests
Metabolic myopathy1 test
Metaphyseal anadysplasia 21 test
Metaphyseal chondrodysplasia1 test
Metaphyseal chondrodysplasia, Schmid type1 test
Methylmalonic acidemia1 test
Microcephalic osteodysplastic primordial dwarfism type 21 test
Microcephalic osteodysplastic primordial dwarfism type 31 test
Microcephaly1 test
Microcephaly with mental retardation and digital anomalies1 test
Microcephaly, normal intelligence and immunodeficiency1 test
Microcephaly-capillary malformation syndrome1 test
Microphthalmia1 test
Miller syndrome1 test
Mitochondrial DNA depletion syndrome 1 (MNGIE type)1 test
Mitochondrial DNA depletion syndrome 111 test
Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)1 test
Mitochondrial DNA depletion syndrome 21 test
Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria)1 test
Mitochondrial DNA depletion syndrome 7 (hepatocerebral type)1 test
Mitochondrial DNA depletion syndrome, hepatocerebral form1 test
Mitochondrial DNA-depletion syndrome 3, hepatocerebral1 test
Mucolipidosis type IV1 test
Mucopolysaccharidosis1 test
Multiple congenital exostosis1 test
Multiple cutaneous leiomyomas1 test
Multiple endocrine neoplasia3 tests
Multiple fibrofolliculomas3 tests
Muscle AMP deaminase deficiency1 test
Muscular dystrophy1 test
Navajo neurohepatopathy1 test
Nemaline myopathy1 test
Neonatal adrenoleucodystrophy1 test
Neonatal diabetes mellitus1 test
Neoplasm of the skin1 test
Nephrogenic diabetes insipidus1 test
Nephrolithiasis/nephrocalcinosis1 test
Nephronophthisis1 test
Nephrotic syndrome1 test
Neuroblastoma1 test
Neurofibromas1 test
Neurofibromatosis, type 11 test
Neurofibromatosis, type 21 test
Neuronal ceroid lipofuscinosis1 test
Niemann-Pick disease, type A2 tests
Niemann-Pick disease, type B2 tests
Niemann-Pick disease, type C2 tests
Niemann-Pick disease, type D1 test
Non-ketotic hyperglycinemia2 tests
Non-syndromic X-linked intellectual disability1 test
Nonsyndromic hearing loss and deafness2 tests
Noonan syndrome3 tests
Noonan syndrome with multiple lentigines1 test
Nystagmus1 test
Obesity1 test
Oculocutaneous albinism1 test
Optic atrophy2 tests
Ornithine carbamoyltransferase deficiency1 test
Orotic aciduria1 test
Osler hemorrhagic telangiectasia syndrome2 tests
Osteodysplastic primordial dwarfism, type 11 test
Osteogenesis imperfecta1 test
Osteopetrosis1 test
POLG-Related Disorders1 test
Pachyonychia congenita syndrome2 tests
Palmoplantar keratoderma, mutilating, with periorificial keratotic plaques1 test
Parkinson disease1 test
Paroxysmal atrial fibrillation1 test
Pendred syndrome3 tests
Periodic paralysis1 test
Permanent atrial fibrillation1 test
Persistent fetal circulation1 test
Peutz-Jeghers syndrome2 tests
Phenylketonuria2 tests
Pituitary prolactin cell adenoma1 test
Polycystic kidney disease, autosomal dominant3 tests
Polycystic liver disease1 test
Polymicrogyria, bilateral frontoparietal1 test
Pontoneocerebellar hypoplasia1 test
Porphyria1 test
Premature ovarian failure1 test
Primary hypomagnesemia1 test
Progressive external ophthalmoplegia1 test
Progressive intrahepatic cholestasis1 test
Progressive myoclonic epilepsy2 tests
Progressive sclerosing poliodystrophy1 test
Propionyl-CoA carboxylase deficiency1 test
Pseudo-Hurler polydystrophy1 test
Pseudohypoaldosteronism1 test
Pseudoprimary hyperaldosteronism1 test
Pulmonary Surfactant Metabolism Dysfunction1 test
Pulmonary artery stenosis1 test
Pulmonary veno-occlusive disease1 test
Purine-nucleoside phosphorylase deficiency1 test
Pyle metaphyseal dysplasia1 test
Pyridoxine-dependent epilepsy1 test
Renal cell carcinoma, papillary, 11 test
Renal cyst4 tests
Renal dysplasia1 test
Renal dysplasia and retinal aplasia2 tests
Renal magnesium wasting1 test
Renal tubular acidosis1 test
Respiratory distress syndrome in premature infants1 test
Retinal dystrophy1 test
Retinitis pigmentosa1 test
Retinitis pigmentosa-deafness syndrome3 tests
Retinoblastoma2 tests
Revesz syndrome1 test
Rhabdomyolysis1 test
Rhizomelic chondrodysplasia punctata1 test
Robinow syndrome1 test
Rothmund-Thomson syndrome1 test
Seckel syndrome3 tests
Sensorineural hearing loss2 tests
Septo-optic dysplasia sequence1 test
Severe combined immunodeficiency disease2 tests
Severe combined immunodeficiency due to ADA deficiency1 test
Severe short stature1 test
Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis1 test
Shprintzen-Goldberg syndrome1 test
Sialidosis, type II1 test
Sialuria1 test
Simpson-Golabi-Behmel syndrome1 test
Sitosterolemia1 test
Skeletal dysplasia3 tests
Spastic paraplegia1 test
Spinal muscular atrophy1 test
Spinocerebellar ataxia, autosomal recessive 101 test
Split-hand/foot malformation 1 with sensorineural hearing loss1 test
Spondylometaphyseal dysplasia, Kozlowski type1 test
Stickler syndrome3 tests
Stomatin-deficient cryohydrocytosis with neurologic defects1 test
Stomatocytosis1 test
Succinate-semialdehyde dehydrogenase deficiency1 test
Sucrase-isomaltase deficiency1 test
Sudden cardiac death2 tests
Supravalvar aortic stenosis1 test
Syndactyly1 test
TNF receptor-associated periodic fever syndrome (TRAPS)1 test
Tetralogy of Fallot1 test
Thiopurine methyltransferase deficiency1 test
Thoracic aortic aneurysm and aortic dissection1 test
Three M syndrome2 tests
Thrombocytopenia1 test
Thyroid Hormone Resistance1 test
Trichohepatoenteric syndrome1 test
Tuberous sclerosis syndrome4 tests
Tyrosinemia type 21 test
Tyrosinemia type I2 tests
UDPglucose-4-epimerase deficiency2 tests
Ullrich congenital muscular dystrophy1 test
Uridine 5-prime monophosphate hydrolase deficiency, hemolytic anemia due to1 test
Ventricular septal defect1 test
Vitreoretinopathy1 test
Von Hippel-Lindau syndrome4 tests
Waardenburg syndrome4 tests
Weill-Marchesani syndrome1 test
Werner syndrome1 test
Wilms tumor 11 test
Wilson disease1 test
Wiskott-Aldrich syndrome1 test
Wolman disease1 test
Xanthinuria type 21 test
Xeroderma pigmentosum1 test
Zellweger syndrome2 tests
short QT syndrome3 tests
von Willebrand disease type 11 test
von Willebrand disorder1 test
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