Baylor Genetics

Personnel

Director: Christine Eng, MD, ABMGG Board Certified, ABP, FACMG, Diplomate of the American Boa, Chief Medical Officer, Chief Quality Officer
Phone: 1-800-411-4363
Fax: 1-800-434-9850
Email: [email protected]
Director: Weimin Bi, PhD, ABMGG Board Certified, Diplomate of the American Board of Medica, Lab Director
Director: Linyan Meng, PhD, Lab Director
Director: Qin Sun, PhD, ABMGG Board Certified, Diplomate of the American Board of Medica, Lab Director
Director: Fan Xia, PhD, ABMGG Board Certified, Diplomate of the American Board of Medica, Lab Director

Conditions and tests

1337 conditions/phenotypes with 2628 tests
Enter text to narrow down the list

3 beta-Hydroxysteroid dehydrogenase deficiency1 test
3-hydroxy-3-methylglutaryl-CoA synthase deficiency4 tests
3-methylcrotonyl-CoA carboxylase 1 deficiency11 tests
3-methylcrotonyl-CoA carboxylase 2 deficiency9 tests
3-methylglutaconic aciduria type 18 tests
3-Methylglutaconic aciduria type 27 tests
3-Methylglutaconic aciduria type 37 tests
3-methylglutaconic aciduria type 54 tests
46,XX sex reversal 11 test
46,XY sex reversal 11 test
6-Pyruvoyl-tetrahydrobiopterin synthase deficiency5 tests
Abnormal chromosome morphology1 test
Acatalasia1 test
Acetyl-CoA acetyltransferase-2 deficiency1 test
Acetyl-CoA: carboxylase deficiency6 tests
Achondrogenesis type II6 tests
Achondrogenesis, type IB3 tests
Achondroplasia2 tests
Achromatopsia 21 test
Achromatopsia 31 test
Achromatopsia 41 test
Acne inversa, familial, 31 test
Acrocephalosyndactyly type I1 test
Acrodysostosis 1 with or without hormone resistance2 tests
Acromicric dysplasia5 tests
Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins6 tests
Acute lymphoid leukemia8 tests
Acute myeloid leukemia22 tests
Acute promyelocytic leukemia1 test
Acyl-CoA dehydrogenase 9 deficiency7 tests
Acyl-CoA oxidase deficiency4 tests
Adenine phosphoribosyltransferase deficiency3 tests
Adenylosuccinate lyase deficiency8 tests
Adrenocortical carcinoma, hereditary17 tests
Adrenoleukodystrophy6 tests
Adult hypophosphatasia7 tests
Adult-onset foveomacular vitelliform dystrophy9 tests
Age related macular degeneration 101 test
Age related macular degeneration 27 tests
Agenesis of the corpus callosum with peripheral neuropathy3 tests
AICA-ribosiduria1 test
Alagille syndrome due to a JAG1 point mutation3 tests
Aland island eye disease1 test
Alcohol sensitivity, acute1 test
ALG1-congenital disorder of glycosylation5 tests
ALG11-congenital disorder of glycosylation3 tests
ALG12-congenital disorder of glycosylation5 tests
ALG2-congenital disorder of glycosylation2 tests
ALG3-congenital disorder of glycosylation5 tests
ALG6-congenital disorder of glycosylation 1C5 tests
ALG8 congenital disorder of glycosylation4 tests
ALG9 congenital disorder of glycosylation5 tests
Alkaptonuria1 test
Alpha-1-antitrypsin deficiency3 tests
Alpha-methylacyl-CoA racemase deficiency4 tests
Alstrom syndrome1 test
Alveolar capillary dysplasia with pulmonary venous misalignment7 tests
Alzheimer disease2 tests
Alzheimer disease 31 test
Aminoglycoside-induced deafness5 tests
Amish lethal microcephaly1 test
Amyotrophic lateral sclerosis type 11 test
Amyotrophic lateral sclerosis type 123 tests
Amyotrophic lateral sclerosis type 203 tests
Amyotrophic neuralgia3 tests
Anauxetic dysplasia 14 tests
Androgen resistance syndrome4 tests
Anemia, nonspherocytic hemolytic, due to G6PD deficiency3 tests
Angelman syndrome17 tests
Anhaptoglobinemia1 test
Anhidrotic ectodermal dysplasia-immunodeficiency-osteopetrosis-lymphedema syndrome2 tests
Aniridia 11 test
Anomaly of sex chromosome1 test
Anophthalmia/microphthalmia-esophageal atresia syndrome1 test
Anterior segment dysgenesis 11 test
Anterior segment dysgenesis 31 test
Anterior segment dysgenesis 41 test
Aplastic anemia5 tests
Arginase deficiency8 tests
Arginine:glycine amidinotransferase deficiency9 tests
Argininosuccinate lyase deficiency6 tests
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma1 test
Arrhythmogenic right ventricular dysplasia 81 test
Arteriohepatic dysplasia4 tests
Aspartate aminotransferase, serum level of, quantitative trait locus 11 test
Aspartylglucosaminuria4 tests
Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia4 tests
Ataxia-telangiectasia syndrome10 tests
Ataxia-telangiectasia-like disorder3 tests
Ataxia-telangiectasia-like disorder 13 tests
Atrophia bulborum hereditaria4 tests
Autism2 tests
Autism, susceptibility to, X-linked 37 tests
Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome1 test
Autoimmune lymphoproliferative syndrome type 2B1 test
Autoimmune lymphoproliferative syndrome type 43 tests
Autosomal dominant keratitis-ichthyosis-hearing loss syndrome5 tests
Autosomal dominant nonsyndromic hearing loss 101 test
Autosomal dominant nonsyndromic hearing loss 114 tests
Autosomal dominant nonsyndromic hearing loss 3A5 tests
Autosomal dominant nonsyndromic hearing loss 3B1 test
Autosomal dominant nonsyndromic hearing loss 61 test
Autosomal dominant nonsyndromic hearing loss 641 test
Autosomal dominant optic atrophy classic form5 tests
Autosomal dominant osteopetrosis 11 test
Autosomal dominant osteopetrosis 25 tests
Autosomal dominant vitreoretinochoroidopathy5 tests
Autosomal recessive ataxia due to ubiquinone deficiency6 tests
Autosomal recessive bestrophinopathy5 tests
Autosomal recessive congenital ichthyosis 13 tests
Autosomal recessive congenital ichthyosis 4A1 test
Autosomal recessive congenital ichthyosis 4B1 test
Autosomal recessive cutis laxa type 11 test
Autosomal recessive cutis laxa type 2B1 test
Autosomal recessive DOPA responsive dystonia3 tests
Autosomal recessive early-onset Parkinson disease 61 test
Autosomal recessive early-onset Parkinson disease 71 test
Autosomal recessive limb-girdle muscular dystrophy type 2A1 test
Autosomal recessive limb-girdle muscular dystrophy type 2C1 test
Autosomal recessive limb-girdle muscular dystrophy type 2D1 test
Autosomal recessive limb-girdle muscular dystrophy type 2E1 test
Autosomal recessive nonsyndromic hearing loss 124 tests
Autosomal recessive nonsyndromic hearing loss 18A5 tests
Autosomal recessive nonsyndromic hearing loss 1A7 tests
Autosomal recessive nonsyndromic hearing loss 1B1 test
Autosomal recessive nonsyndromic hearing loss 233 tests
Autosomal recessive nonsyndromic hearing loss 316 tests
Autosomal recessive nonsyndromic hearing loss 41 test
Autosomal recessive nonsyndromic hearing loss 741 test
Autosomal recessive nonsyndromic hearing loss 972 tests
Autosomal recessive optic atrophy, OPA7 type1 test
Autosomal recessive osteopetrosis 16 tests
Autosomal recessive osteopetrosis 21 test
Autosomal recessive osteopetrosis 44 tests
Autosomal recessive osteopetrosis 51 test
Autosomal recessive osteopetrosis 72 tests
Autosomal recessive polycystic kidney disease3 tests
Avascular necrosis of femoral head, primary, 16 tests
Avellino corneal dystrophy1 test
Axenfeld-Rieger syndrome type 14 tests
Axenfeld-Rieger syndrome type 31 test
B-cell chronic lymphocytic leukemia1 test
B4GALT1-congenital disorder of glycosylation5 tests
Bannayan-Riley-Ruvalcaba syndrome7 tests
Bardet-Biedl syndrome2 tests
Bardet-Biedl syndrome 18 tests
Bardet-Biedl syndrome 104 tests
Bardet-Biedl syndrome 123 tests
Bardet-Biedl syndrome 145 tests
Bardet-Biedl syndrome 153 tests
Bardet-Biedl syndrome 23 tests
Bardet-Biedl syndrome 33 tests
Bardet-Biedl syndrome 43 tests
Bardet-Biedl syndrome 53 tests
Bardet-Biedl syndrome 73 tests
Bardet-Biedl syndrome 93 tests
Basal cell carcinoma, susceptibility to, 13 tests
Basal cell carcinoma, susceptibility to, 712 tests
Becker muscular dystrophy4 tests
Beckwith-Wiedemann syndrome5 tests
Benign recurrent intrahepatic cholestasis type 15 tests
Benign recurrent intrahepatic cholestasis type 26 tests
beta Thalassemia2 tests
Beta-D-mannosidosis1 test
Beta-hydroxyisobutyryl-CoA deacylase deficiency1 test
Bietti crystalline corneoretinal dystrophy1 test
Bifunctional peroxisomal enzyme deficiency5 tests
Biotinidase deficiency10 tests
Birt-Hogg-Dube syndrome5 tests
Blepharophimosis, ptosis, and epicanthus inversus syndrome1 test
Bloom syndrome5 tests
Body mass index quantitative trait locus 122 tests
Body mass index quantitative trait locus 41 test
Bone fragility with contractures, arterial rupture, and deafness1 test
Bone marrow transplant1 test
Bone mineral density quantitative trait locus 11 test
Bone osteosarcoma17 tests
Bothnia retinal dystrophy6 tests
Bradyopsia1 test
Branchiootic syndrome 11 test
Branchiootorenal syndrome 11 test
Breast-ovarian cancer, familial, susceptibility to, 110 tests
Breast-ovarian cancer, familial, susceptibility to, 211 tests
Breast-ovarian cancer, familial, susceptibility to, 34 tests
Breast-ovarian cancer, familial, susceptibility to, 44 tests
Bronchiectasis with or without elevated sweat chloride 16 tests
Bruck syndrome 22 tests
Brunner syndrome1 test
Budd-Chiari syndrome2 tests
Burkitt lymphoma1 test
Camptodactyly, tall stature, and hearing loss syndrome (CATSHL syndrome)1 test
Camptodactyly-tall stature-scoliosis-hearing loss syndrome1 test
Carcinoid tumor of intestine4 tests
Carcinoma of colon13 tests
Carcinoma of pancreas17 tests
Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 16 tests
Cardiofaciocutaneous syndrome 14 tests
Cardiofaciocutaneous syndrome 31 test
Cardiofaciocutaneous syndrome 41 test
Cardiomyopathy-hypotonia-lactic acidosis syndrome1 test
Carney complex, type 15 tests
Carney-Stratakis syndrome5 tests
Carnitine acylcarnitine translocase deficiency8 tests
Carnitine palmitoyl transferase 1A deficiency10 tests
Carnitine palmitoyl transferase II deficiency, myopathic form7 tests
Carnitine palmitoyl transferase II deficiency, neonatal form7 tests
Carnitine palmitoyl transferase II deficiency, severe infantile form9 tests
Carotid intimal medial thickness 11 test
Cataract 11 multiple types4 tests
Cataract 14 multiple types1 test
Cataract 16 multiple types1 test
Cataract 181 test
Cataract 401 test
CBL-related disorder5 tests
Cerebral amyloid angiopathy, APP-related1 test
Ceroid lipofuscinosis, neuronal, 6A3 tests
Cervical cancer1 test
Charcot-Marie-Tooth disease dominant intermediate D1 test
Charcot-Marie-Tooth disease recessive intermediate B6 tests
Charcot-Marie-Tooth disease recessive intermediate D3 tests
Charcot-Marie-Tooth disease type 1B1 test
Charcot-Marie-Tooth disease type 2A11 test
Charcot-Marie-Tooth disease type 2A23 tests
Charcot-Marie-Tooth disease type 2D1 test
Charcot-Marie-Tooth disease type 2I1 test
Charcot-Marie-Tooth disease type 2J1 test
Charcot-Marie-Tooth disease type 4K1 test
Charcot-Marie-Tooth disease, axonal, type 2EE1 test
Charcot-Marie-Tooth disease, type IA1 test
CHARGE syndrome7 tests
Charlevoix-Saguenay spastic ataxia3 tests
Childhood hypophosphatasia5 tests
Childhood onset GLUT1 deficiency syndrome 23 tests
Cholestanol storage disease4 tests
Cholestasis, intrahepatic, of pregnancy, 11 test
Cholestasis, intrahepatic, of pregnancy, 34 tests
Chondrocalcinosis 21 test
Choroid plexus papilloma17 tests
Choroidal dystrophy, central areolar 26 tests
Choroideremia1 test
Christianson syndrome1 test
Chromosome 8, partial trisomy1 test
Chromosome Xp11.22 duplication syndrome6 tests
Chronic myelogenous leukemia, BCR-ABL1 positive4 tests
Chuvash polycythemia13 tests
Citrullinemia type I7 tests
Citrullinemia type II8 tests
Classic homocystinuria9 tests
Classical phenylketonuria1 test
Cleidocranial dysostosis3 tests
COACH syndrome1 test
COACH syndrome 12 tests
Cobalamin C disease10 tests
Coenzyme Q10 deficiency, primary, 16 tests
Coenzyme Q10 deficiency, primary, 36 tests
COG1 congenital disorder of glycosylation5 tests
COG4-congenital disorder of glycosylation1 test
COG5-congenital disorder of glycosylation3 tests
COG6-congenital disorder of glycosylation1 test
COG7 congenital disorder of glycosylation5 tests
COG8-congenital disorder of glycosylation5 tests
Coloboma of optic nerve2 tests
Colobomatous optic disc-macular atrophy-chorioretinopathy syndrome1 test
Colorectal cancer, hereditary nonpolyposis, type 26 tests
Combined deficiency of sialidase AND beta galactosidase2 tests
Combined immunodeficiency, X-linked3 tests
Combined malonic and methylmalonic acidemia6 tests
Combined molybdoflavoprotein enzyme deficiency9 tests
Combined oxidative phosphorylation defect type 145 tests
Combined oxidative phosphorylation defect type 152 tests
Combined oxidative phosphorylation defect type 21 test
Combined oxidative phosphorylation defect type 245 tests
Combined oxidative phosphorylation defect type 254 tests
Combined oxidative phosphorylation defect type 41 test
Combined oxidative phosphorylation defect type 75 tests
Combined oxidative phosphorylation defect type 86 tests
Combined oxidative phosphorylation defect type 94 tests
Combined oxidative phosphorylation deficiency 224 tests
Combined oxidative phosphorylation deficiency 353 tests
Combined oxidative phosphorylation deficiency 392 tests
Combined PSAP deficiency1 test
Complex cortical dysplasia with other brain malformations 11 test
Conduction disorder of the heart1 test
Cone dystrophy 31 test
Cone dystrophy 41 test
Cone dystrophy with supernormal rod response1 test
Cone monochromatism1 test
Cone-rod dystrophy 13 tests
Cone-rod dystrophy 101 test
Cone-rod dystrophy 126 tests
Cone-rod dystrophy 137 tests
Cone-rod dystrophy 156 tests
Cone-rod dystrophy 161 test
Cone-rod dystrophy 27 tests
Cone-rod dystrophy 37 tests
Cone-rod dystrophy 51 test
Cone-rod dystrophy 66 tests
Cone-rod dystrophy 71 test
Cone-rod dystrophy 91 test
Cone-rod synaptic disorder, congenital nonprogressive7 tests
Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency1 test
Congenital adrenal insufficiency with 46, XY sex reversal OR 46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency1 test
Congenital amegakaryocytic thrombocytopenia1 test
Congenital bilateral aplasia of vas deferens from CFTR mutation6 tests
Congenital bile acid synthesis defect 23 tests
Congenital bile acid synthesis defect 41 test
Congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome4 tests
Congenital central hypoventilation7 tests
Congenital chromosomal disease2 tests
Congenital diarrhea 5 with tufting enteropathy4 tests
Congenital disorder of deglycosylation3 tests
Congenital disorder of glycosylation type 1E2 tests
Congenital disorder of glycosylation type Ir4 tests
Congenital fibrosis of extraocular muscles type 11 test
Congenital generalized lipodystrophy type 41 test
Congenital hyperammonemia, type I7 tests
Congenital hypomyelinating neuropathy1 test
Congenital hypothyroidism3 tests
Congenital ichthyosis-intellectual disability-spastic quadriplegia syndrome1 test
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type7 tests
Congenital lipoid adrenal hyperplasia due to STAR deficency1 test
Congenital muscular hypertrophy-cerebral syndrome1 test
Congenital myasthenic syndrome 101 test
Congenital myasthenic syndrome 111 test
Congenital myasthenic syndrome 131 test
Congenital myasthenic syndrome 4A1 test
Congenital prothrombin deficiency2 tests
Congenital stationary night blindness 1A1 test
Congenital stationary night blindness 1B1 test
Congenital stationary night blindness 1C1 test
Congenital stationary night blindness 1D1 test
Congenital stationary night blindness 2A1 test
Congenital stationary night blindness autosomal dominant 11 test
Congenital stationary night blindness autosomal dominant 25 tests
Congenital stationary night blindness autosomal dominant 31 test
Corneal dystrophy, Fuchs endothelial, 61 test
Corneal dystrophy, lattice type 3A1 test
Cornelia de Lange syndrome 11 test
Cornelia de Lange syndrome 31 test
Cornelia de Lange syndrome 41 test
Cornelia de Lange syndrome 51 test
Coronary artery disease, autosomal dominant, 12 tests
Corpus callosum agenesis-abnormal genitalia syndrome6 tests
Corticosterone 18-monooxygenase deficiency1 test
Corticosterone methyloxidase type 2 deficiency1 test
Costello syndrome4 tests
Cowden syndrome1 test
Cowden syndrome 114 tests
Craniodiaphyseal dysplasia, autosomal dominant1 test
Craniofacial anomalies and anterior segment dysgenesis syndrome1 test
Craniometaphyseal dysplasia, autosomal dominant1 test
Creatine transporter deficiency6 tests
Crigler-Najjar syndrome type 13 tests
Crouzon syndrome1 test
Crouzon syndrome-acanthosis nigricans syndrome2 tests
Cutis laxa with osteodystrophy2 tests
Cutis laxa, autosomal dominant 11 test
Cutis laxa, autosomal dominant 21 test
Cutis laxa, X-linked5 tests
Cystic fibrosis12 tests
Cystinuria1 test
Cytochrome-c oxidase deficiency1 test
D-2-hydroxyglutaric aciduria 11 test
D-2-hydroxyglutaric aciduria 21 test
D-Glyceric aciduria1 test
de Barsy syndrome1 test
Deafness dystonia syndrome6 tests
Deafness, congenital heart defects, and posterior embryotoxon4 tests
Deafness-encephaloneuropathy-obesity-valvulopathy syndrome1 test
Deafness-lymphedema-leukemia syndrome4 tests
Deficiency of 2-methylbutyryl-CoA dehydrogenase8 tests
Deficiency of 3-hydroxyacyl-CoA dehydrogenase2 tests
Deficiency of acetyl-CoA acetyltransferase8 tests
Deficiency of alpha-mannosidase4 tests
Deficiency of butyryl-CoA dehydrogenase8 tests
Deficiency of cytochrome-b5 reductase1 test
Deficiency of galactokinase6 tests
Deficiency of guanidinoacetate methyltransferase9 tests
Deficiency of hydroxymethylglutaryl-CoA lyase9 tests
Deficiency of isobutyryl-CoA dehydrogenase6 tests
Deficiency of malonyl-CoA decarboxylase1 test
Deficiency of phosphoserine phosphatase1 test
Deficiency of steroid 11-beta-monooxygenase4 tests
Deficiency of steroid 17-alpha-monooxygenase6 tests
Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase7 tests
Dejerine-Sottas disease1 test
Dent disease type 24 tests
Dermatofibrosis lenticularis disseminata6 tests
Desmoid disease, hereditary6 tests
Deuteranomaly1 test
Developmental and epileptic encephalopathy, 16 tests
Developmental and epileptic encephalopathy, 27 tests
Developmental and epileptic encephalopathy, 391 test
Developmental and epileptic encephalopathy, 44 tests
Developmental and epileptic encephalopathy, 93 tests
Diabetes mellitus type 11 test
Diamond-Blackfan anemia7 tests
Diamond-Blackfan anemia 51 test
Diaphyseal dysplasia6 tests
DiGeorge syndrome5 tests
Dihydropteridine reductase deficiency2 tests
Dihydropyrimidine dehydrogenase deficiency3 tests
Dilated cardiomyopathy 1GG6 tests
Dilated cardiomyopathy 1J1 test
Dilated cardiomyopathy 1U1 test
Dilated cardiomyopathy 1X1 test
Dilated cardiomyopathy 3B4 tests
Dimethylglycine dehydrogenase deficiency1 test
DK1-congenital disorder of glycosylation5 tests
Dominant beta-thalassemia2 tests
Dopa-responsive dystonia due to sepiapterin reductase deficiency1 test
Doyne honeycomb retinal dystrophy1 test
DPAGT1-congenital disorder of glycosylation1 test
DPM3-congenital disorder of glycosylation2 tests
Drash syndrome3 tests
Duchenne muscular dystrophy6 tests
Dystonia 161 test
Early myoclonic encephalopathy1 test
Ectodermal dysplasia and immunodeficiency 12 tests
Ectopia lentis 1, isolated, autosomal dominant5 tests
Ehlers-Danlos syndrome progeroid type6 tests
Ehlers-Danlos syndrome type 7A1 test
Ehlers-Danlos syndrome type 7B1 test
Ehlers-Danlos syndrome, arthrochalasia type7 tests
Ehlers-danlos syndrome, arthrochalasia type, 21 test
Ehlers-Danlos syndrome, cardiac valvular type7 tests
Ehlers-Danlos syndrome, classic type10 tests
Ehlers-Danlos syndrome, kyphoscoliotic type 13 tests
Ehlers-Danlos syndrome, spondylocheirodysplastic type7 tests
Ehlers-Danlos syndrome, spondylodysplastic type, 11 test
Ehlers-Danlos syndrome, type 35 tests
Ehlers-Danlos syndrome, type 47 tests
Encephalopathy due to GLUT1 deficiency3 tests
Encephalopathy, acute, infection-induced, susceptibility to, 46 tests
Encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 14 tests
Encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome1 test
Endometrial carcinoma16 tests
Enhanced S-cone syndrome2 tests
Epidermal nevus1 test
Epidermolysis bullosa simplex 1A, generalized severe1 test
Epidermolysis bullosa simplex 1C, localized1 test
Epidermolysis bullosa simplex with migratory circinate erythema1 test
Epidermolysis bullosa simplex with mottled pigmentation1 test
Epidermolysis bullosa simplex, Koebner type1 test
Epithelial basement membrane dystrophy1 test
Epsilon-trimethyllysine hydroxylase deficiency6 tests
Ethylmalonic encephalopathy7 tests
Exercise-induced hyperinsulinism3 tests
Exudative vitreoretinopathy 14 tests
Exudative vitreoretinopathy 2, X-linked1 test
Exudative vitreoretinopathy 44 tests
Exudative vitreoretinopathy 54 tests
Fabry disease6 tests
Factor V deficiency2 tests
Familial adenomatous polyposis 112 tests
Familial adenomatous polyposis 27 tests
Familial aplasia of the vermis1 test
Familial atrial myxoma2 tests
Familial cancer of breast36 tests
Familial colorectal cancer5 tests
Familial dysautonomia4 tests
Familial expansile osteolysis2 tests
Familial gestational hyperthyroidism2 tests
Familial hemophagocytic lymphohistiocytosis 22 tests
Familial hypercholesterolemia7 tests
Familial hyperthyroidism due to mutations in TSH receptor2 tests
Familial infantile myasthenia2 tests
Familial isolated deficiency of vitamin E3 tests
Familial Mediterranean fever1 test
Familial medullary thyroid carcinoma4 tests
Familial meningioma9 tests
Familial porphyria cutanea tarda1 test
Familial prostate cancer1 test
Familial spontaneous pneumothorax2 tests
Familial steroid-resistant nephrotic syndrome with sensorineural deafness1 test
Fanconi anemia complementation group C3 tests
Fanconi anemia complementation group D110 tests
Fanconi anemia complementation group N8 tests
Fanconi anemia complementation group O1 test
Fanconi renotubular syndrome 27 tests
Fasting plasma glucose level quantitative trait locus 51 test
Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 36 tests
Febrile seizures, familial, 44 tests
Fetal hemoglobin quantitative trait locus 12 tests
Fibromatosis, gingival, 13 tests
Fibrosis of extraocular muscles, congenital, 21 test
Fibrosis of extraocular muscles, congenital, 3A, with or without extraocular involvement1 test
Finnish congenital nephrotic syndrome3 tests
Finnish type amyloidosis1 test
Focal dermal hypoplasia3 tests
Follicular lymphoma, susceptibility to, 12 tests
Fragile X syndrome5 tests
Fragile X-associated tremor/ataxia syndrome3 tests
Frasier syndrome3 tests
Friedreich ataxia 14 tests
Frontotemporal dementia1 test
Frontotemporal dementia and/or amyotrophic lateral sclerosis 61 test
Fructose-biphosphatase deficiency7 tests
Fumarase deficiency1 test
Galactosylceramide beta-galactosidase deficiency5 tests
Gamma-aminobutyric acid transaminase deficiency1 test
Gastric lymphoma2 tests
Gastrointestinal stromal tumor5 tests
Gaucher disease due to saposin C deficiency1 test
Gaucher disease type I3 tests
Geleophysic dysplasia 25 tests
Generalized juvenile polyposis/juvenile polyposis coli9 tests
Glaucoma 1, open angle, A4 tests
Glaucoma 3A5 tests
Glaucoma, normal tension, susceptibility to5 tests
Glioma susceptibility 114 tests
Glioma susceptibility 27 tests
Glioma susceptibility 310 tests
Glucocorticoid-remediable aldosteronism4 tests
Glucose-6-phosphate transport defect7 tests
Glutaric aciduria, type 19 tests
Glutaryl-CoA oxidase deficiency6 tests
Gluthathione peroxidase deficiency1 test
Glycine N-methyltransferase deficiency3 tests
Glycogen storage disease due to glucose-6-phosphatase deficiency type IA7 tests
Glycogen storage disease due to lactate dehydrogenase H-subunit deficiency1 test
Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency4 tests
Glycogen storage disease due to muscle and heart glycogen synthase deficiency6 tests
Glycogen storage disease due to muscle beta-enolase deficiency6 tests
Glycogen storage disease IIIa3 tests
Glycogen storage disease IIIb3 tests
Glycogen storage disease IXa16 tests
Glycogen storage disease IXb6 tests
Glycogen storage disease IXc6 tests
Glycogen storage disease IXd6 tests
Glycogen storage disease type III4 tests
Glycogen storage disease type X6 tests
Glycogen storage disease XV3 tests
Glycogen storage disease, type II7 tests
Glycogen storage disease, type IV6 tests
Glycogen storage disease, type V6 tests
Glycogen storage disease, type VI6 tests
Glycogen storage disease, type VII6 tests
Glycogen storage disorder due to hepatic glycogen synthase deficiency7 tests
GM1 gangliosidosis type 21 test
GM1 gangliosidosis type 31 test
GNE myopathy8 tests
Gorlin syndrome6 tests
GRACILE syndrome5 tests
Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative1 test
GRN-related frontotemporal lobar degeneration with Tdp43 inclusions1 test
Groenouw corneal dystrophy type I1 test
Hawkinsinuria4 tests
Hb SS disease2 tests
Heimler syndrome 11 test
Heimler syndrome 21 test
Heinz body anemia2 tests
Helicoid peripapillary chorioretinal degeneration1 test
Hematologic neoplasm1 test
Hemochromatosis type 14 tests
Hemochromatosis type 2A3 tests
Hemochromatosis type 2B3 tests
Hemochromatosis type 33 tests
Hemochromatosis type 43 tests
Hemolytic anemia due to adenylate kinase deficiency1 test
Hemolytic anemia due to glucophosphate isomerase deficiency1 test
Hemolytic anemia due to hexokinase deficiency1 test
Hemolytic anemia due to pyrimidine 5' nucleotidase deficiency1 test
Hepatic adenomas, familial1 test
Hepatic methionine adenosyltransferase deficiency1 test
Hepatocellular carcinoma19 tests
Hepatoencephalopathy due to combined oxidative phosphorylation defect type 18 tests
Hereditary coproporphyria1 test
Hereditary diffuse gastric adenocarcinoma8 tests
Hereditary disease176 tests
Hereditary fructosuria8 tests
Hereditary hemorrhagic telangiectasia2 tests
Hereditary intrinsic factor deficiency6 tests
Hereditary leiomyomatosis and renal cell cancer5 tests
Hereditary liability to pressure palsies1 test
Hereditary motor and sensory neuropathy with optic atrophy2 tests
Hereditary myopathy with lactic acidosis due to ISCU deficiency6 tests
Hereditary pancreatitis6 tests
Hereditary spastic paraplegia 131 test
Hereditary spastic paraplegia 25 tests
Hereditary spastic paraplegia 311 test
Hereditary spastic paraplegia 443 tests
Hereditary spastic paraplegia 551 test
Hereditary spastic paraplegia 74 tests
Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX14 tests
Hereditary xanthinuria type 13 tests
Hermansky-Pudlak syndrome 14 tests
Hermansky-Pudlak syndrome 21 test
Hermansky-Pudlak syndrome 35 tests
Hermansky-Pudlak syndrome 44 tests
Hermansky-Pudlak syndrome 54 tests
Hermansky-Pudlak syndrome 64 tests
Hermansky-Pudlak syndrome 74 tests
Hermansky-Pudlak syndrome 84 tests
Hidrotic ectodermal dysplasia syndrome1 test
Hirschsprung disease, susceptibility to, 14 tests
HNSHA due to aldolase A deficiency1 test
Holocarboxylase synthetase deficiency8 tests
Holoprosencephaly 31 test
Holoprosencephaly 73 tests
Homocystinuria due to methylene tetrahydrofolate reductase deficiency8 tests
HOMOCYSTINURIA-MEGALOBLASTIC ANEMIA, cblD TYPE4 tests
HSD10 mitochondrial disease6 tests
Huntington disease2 tests
Hurler syndrome4 tests
Hurthle cell carcinoma of thyroid5 tests
Hydroxyacyl glutathione hydrolase deficiency1 test
Hyper-IgE recurrent infection syndrome 1, autosomal dominant1 test
Hyper-IgM syndrome type 51 test
Hyperammonemia, type III7 tests
Hypercalcemia, infantile, 11 test
Hyperinsulinemic hypoglycemia, familial, 41 test
Hyperinsulinism due to glucokinase deficiency1 test
Hyperinsulinism-hyperammonemia syndrome4 tests
Hyperlipoproteinemia type IV1 test
Hyperlysinemia1 test
Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase3 tests
Hyperornithinemia1 test
Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome8 tests
Hyperparathyroidism 13 tests
Hyperparathyroidism 2 with jaw tumors4 tests
Hyperphosphatasemia tarda1 test
Hyperphosphatasemia with bone disease2 tests
Hyperprolinemia type 26 tests
Hypertrophic cardiomyopathy 17 tests
Hyperuricemia, pulmonary hypertension, renal failure, alkalosis syndrome1 test
Hypochondroplasia2 tests
Hypogonadotropic hypogonadism 5 with or without anosmia6 tests
Hypogonadotropic hypogonadism 7 with or without anosmia6 tests
Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome2 tests
Hypomyelinating leukodystrophy 23 tests
Hypomyelinating leukodystrophy 41 test
Hypophosphatemic nephrolithiasis/osteoporosis 16 tests
Hypophosphatemic nephrolithiasis/osteoporosis 22 tests
Hypopigmentation, organomegaly, and delayed myelination and development1 test
Hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa, and pallidal degeneration1 test
Hypospadias 1, X-linked4 tests
Hypothyroidism due to TSH receptor mutations2 tests
Hypotonia with lactic acidemia and hyperammonemia6 tests
Ichthyosis, hystrix-like, with hearing loss5 tests
Idiopathic generalized epilepsy1 test
Idiopathic hypereosinophilic syndrome1 test
IMAGe syndrome2 tests
Imerslund-Grasbeck syndrome1 test
Iminoglycinuria1 test
Immunodeficiency 181 test
Immunodeficiency 233 tests
Immunodeficiency 27A1 test
Immunodeficiency 31B1 test
Immunodeficiency 332 tests
Immunodeficiency 83, susceptibility to viral infections1 test
Inborn glycerol kinase deficiency2 tests
Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 23 tests
Inclusion body myopathy with Paget disease of bone and frontotemporal dementia type 11 test
Incontinentia pigmenti syndrome5 tests
Increased analgesia from kappa-opioid receptor agonist, female-specific1 test
Infantile cerebellar-retinal degeneration1 test
Infantile cortical hyperostosis3 tests
Infantile GM1 gangliosidosis1 test
Infantile hypertrophic cardiomyopathy due to MRPL44 deficiency4 tests
Infantile hypophosphatasia5 tests
Infantile nephronophthisis3 tests
Infantile onset spinocerebellar ataxia8 tests
Insulin-resistant diabetes mellitus AND acanthosis nigricans2 tests
Intellectual disability, autosomal dominant 51 test
Intellectual disability, autosomal recessive 75 tests
Intellectual disability, X-linked 631 test
Intellectual disability, X-linked, with or without seizures, arx-related6 tests
Iodotyrosine deiodination defect3 tests
Irido-corneo-trabecular dysgenesis1 test
Ischemic stroke8 tests
Isolated microphthalmia 31 test
Isolated microphthalmia 56 tests
Isolated optic nerve hypoplasia1 test
Isovaleryl-CoA dehydrogenase deficiency9 tests
Jackson-Weiss syndrome1 test
Joubert syndrome 23 tests
Joubert syndrome 321 test
Joubert syndrome 56 tests
Joubert syndrome 61 test
Joubert syndrome 91 test
Joubert syndrome with renal defect2 tests
Junctional epidermolysis bullosa gravis of Herlitz2 tests
Junctional epidermolysis bullosa, non-Herlitz type7 tests
Juvenile myelomonocytic leukemia6 tests
Juvenile nephropathic cystinosis1 test
Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome5 tests
Juvenile retinoschisis4 tests
Kahrizi syndrome4 tests
Kennedy disease4 tests
Keratoconus 14 tests
Keratosis palmoplantaris striata 21 test
Kniest dysplasia6 tests
Knuckle pads, deafness AND leukonychia syndrome5 tests
Kostmann syndrome1 test
Krabbe disease due to saposin A deficiency1 test
Kugelberg-Welander disease1 test
L-2-hydroxyglutaric aciduria1 test
Langer-Giedion syndrome1 test
Langereis blood group1 test
Late-onset retinal degeneration1 test
Lattice corneal dystrophy Type I1 test
Leber congenital amaurosis 16 tests
Leber congenital amaurosis 106 tests
Leber congenital amaurosis 117 tests
Leber congenital amaurosis 122 tests
Leber congenital amaurosis 137 tests
Leber congenital amaurosis 147 tests
Leber congenital amaurosis 151 test
Leber congenital amaurosis 162 tests
Leber congenital amaurosis 27 tests
Leber congenital amaurosis 32 tests
Leber congenital amaurosis 42 tests
Leber congenital amaurosis 57 tests
Leber congenital amaurosis 66 tests
Leber congenital amaurosis 76 tests
Leber congenital amaurosis 86 tests
Leber congenital amaurosis 91 test
Legg-Calve-Perthes disease6 tests
Leigh syndrome49 tests
LEOPARD syndrome 16 tests
LEOPARD syndrome 25 tests
LEOPARD syndrome 33 tests
Leprechaunism syndrome1 test
Lesch-Nyhan syndrome6 tests
Lethal acantholytic epidermolysis bullosa1 test
Lethal osteosclerotic bone dysplasia6 tests
Leukemia, acute lymphoblastic, susceptibility to, 35 tests
Leukemia, chronic lymphocytic, susceptibility to, 11 test
Leukocyte adhesion deficiency type II5 tests
Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome6 tests
Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome3 tests
Levy-Hollister syndrome1 test
Lewy body dementia1 test
Li-Fraumeni syndrome 117 tests
Li-Fraumeni syndrome 23 tests
Linear skin defects with multiple congenital anomalies 11 test
Lipoic acid synthetase deficiency1 test
Lissencephaly type 31 test
Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency13 tests
Low phospholipid associated cholelithiasis5 tests
Lowe syndrome4 tests
Lung carcinoma12 tests
Lymphatic malformation 33 tests
Lynch syndrome 125 tests
Lynch syndrome 46 tests
Lynch syndrome 56 tests
Lynch syndrome 85 tests
Lysinuric protein intolerance4 tests
Lysosomal acid lipase deficiency4 tests
Macrocephaly-autism syndrome13 tests
Macroglobulinemia, Waldenstrom, 11 test
Macular degeneration, age-related, 31 test
Macular degeneration, X-linked atrophic4 tests
Malignant tumor of breast1 test
Malignant tumor of esophagus2 tests
Malignant tumor of prostate18 tests
Malignant tumor of testis7 tests
Malignant tumor of urinary bladder5 tests
Maple syrup urine disease8 tests
Maple syrup urine disease type 1A4 tests
Maple syrup urine disease type 1B4 tests
Maple syrup urine disease type 24 tests
Marfan syndrome7 tests
MASS syndrome5 tests
Mastocytosis1 test
Matthew-Wood syndrome1 test
Maturity-onset diabetes of the young type 21 test
Maturity-onset diabetes of the young type 31 test
Maturity-onset diabetes of the young type 61 test
McKusick-Kaufman syndrome3 tests
Meacham syndrome3 tests
Meckel syndrome, type 13 tests
Meckel syndrome, type 31 test
Meckel syndrome, type 46 tests
Meckel syndrome, type 61 test
Medium-chain acyl-coenzyme A dehydrogenase deficiency10 tests
Medulloblastoma14 tests
Meesmann corneal dystrophy1 test
Megalencephalic leukoencephalopathy with subcortical cysts 13 tests
Melanoma and neural system tumor syndrome4 tests
Melanoma, cutaneous malignant, susceptibility to, 114 tests
Melanoma, cutaneous malignant, susceptibility to, 25 tests
Melanoma, cutaneous malignant, susceptibility to, 37 tests
Melanoma, cutaneous malignant, susceptibility to, 51 test
Melanoma-pancreatic cancer syndrome6 tests
Melorheostosis5 tests
Menkes kinky-hair syndrome6 tests
Mesothelioma, malignant3 tests
Metabolic myopathy due to lactate transporter defect2 tests
Metachondromatosis5 tests
Metachromatic leukodystrophy4 tests
Metaphyseal chondrodysplasia, McKusick type3 tests
Metaphyseal chondrodysplasia, Schmid type3 tests
Metaphyseal dysplasia without hypotrichosis3 tests
Methemoglobinemia type 41 test
Methylcobalamin deficiency type cblE8 tests
Methylcobalamin deficiency type cblG8 tests
Methylmalonate semialdehyde dehydrogenase deficiency1 test
Methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency6 tests
Methylmalonic acidemia due to transcobalamin receptor defect5 tests
Methylmalonic acidemia with homocystinuria, type cblX3 tests
Methylmalonic aciduria and homocystinuria type cblD9 tests
Methylmalonic aciduria and homocystinuria type cblF9 tests
Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency15 tests
Methylmalonic aciduria, cblA type11 tests
Methylmalonic aciduria, cblB type11 tests
MGAT2-congenital disorder of glycosylation2 tests
MHC class I deficiency1 test
Microcephalic osteodysplastic dysplasia, Saul-Wilson type2 tests
Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability3 tests
Microcephaly, normal intelligence and immunodeficiency8 tests
Microphthalmia, isolated, with coloboma 51 test
Microphthalmia, isolated, with coloboma 71 test
Microvascular complications of diabetes, susceptibility to, 61 test
Microvascular complications of diabetes, susceptibility to, 71 test
Miller syndrome1 test
Mismatch repair cancer syndrome 16 tests
Mitochondrial complex 1 deficiency, nuclear type 101 test
Mitochondrial complex 1 deficiency, nuclear type 111 test
Mitochondrial complex 1 deficiency, nuclear type 121 test
Mitochondrial complex 1 deficiency, nuclear type 141 test
Mitochondrial complex 1 deficiency, nuclear type 181 test
Mitochondrial complex 1 deficiency, nuclear type 191 test
Mitochondrial complex 1 deficiency, nuclear type 21 test
Mitochondrial complex 1 deficiency, nuclear type 211 test
Mitochondrial complex 1 deficiency, nuclear type 271 test
Mitochondrial complex 1 deficiency, nuclear type 323 tests
Mitochondrial complex 1 deficiency, nuclear type 41 test
Mitochondrial complex 1 deficiency, nuclear type 51 test
Mitochondrial complex 1 deficiency, nuclear type 73 tests
Mitochondrial complex 1 deficiency, nuclear type 82 tests
Mitochondrial complex 1 deficiency, nuclear type 92 tests
Mitochondrial complex 5 (ATP synthase) deficiency nuclear type 51 test
Mitochondrial complex I deficiency43 tests
Mitochondrial complex I deficiency, nuclear type 12 tests
Mitochondrial complex II deficiency, nuclear type 112 tests
Mitochondrial complex III deficiency nuclear type 19 tests
Mitochondrial complex III deficiency nuclear type 21 test
Mitochondrial complex III deficiency nuclear type 53 tests
Mitochondrial complex IV deficiency, nuclear type 115 tests
Mitochondrial complex V (ATP synthase) deficiency nuclear type 26 tests
Mitochondrial complex V (ATP synthase) deficiency nuclear type 36 tests
Mitochondrial complex V (ATP synthase) deficiency, nuclear type 15 tests
Mitochondrial disease2 tests
Mitochondrial DNA depletion syndrome 18 tests
Mitochondrial DNA depletion syndrome 112 tests
Mitochondrial DNA depletion syndrome 12A (cardiomyopathic type), autosomal dominant1 test
Mitochondrial DNA depletion syndrome 133 tests
Mitochondrial DNA depletion syndrome 3 (hepatocerebral type)7 tests
Mitochondrial DNA depletion syndrome 4b7 tests
Mitochondrial DNA depletion syndrome 6 (hepatocerebral type)6 tests
Mitochondrial DNA depletion syndrome 8a8 tests
Mitochondrial DNA depletion syndrome 911 tests
Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria7 tests
Mitochondrial DNA depletion syndrome, myopathic form7 tests
Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency4 tests
Mitochondrial trifunctional protein deficiency17 tests
MOGS-congenital disorder of glycosylation4 tests
Monocytopenia with susceptibility to infections2 tests
MORM syndrome1 test
MPDU1-congenital disorder of glycosylation5 tests
MPI-congenital disorder of glycosylation8 tests
Mucolipidosis type II1 test
Mucolipidosis type IV3 tests
Mucopolysaccharidosis type 71 test
Mucopolysaccharidosis, MPS-I-H/S3 tests
Mucopolysaccharidosis, MPS-I-S3 tests
Mucopolysaccharidosis, MPS-II9 tests
Mucopolysaccharidosis, MPS-III-A4 tests
Mucopolysaccharidosis, MPS-III-B1 test
Mucopolysaccharidosis, MPS-III-C1 test
Mucopolysaccharidosis, MPS-III-D1 test
Mucopolysaccharidosis, MPS-IV-A4 tests
Mucopolysaccharidosis, MPS-IV-B1 test
Muenke syndrome2 tests
Muir-Torré syndrome6 tests
Multiple acyl-CoA dehydrogenase deficiency22 tests
Multiple endocrine neoplasia type 2A7 tests
Multiple endocrine neoplasia type 2B4 tests
Multiple endocrine neoplasia, type 17 tests
Multiple epiphyseal dysplasia, Beighton type6 tests
Multiple mitochondrial dysfunctions syndrome 11 test
Multiple mitochondrial dysfunctions syndrome 21 test
Multiple myeloma3 tests
Muscle eye brain disease1 test
Mutilating keratoderma5 tests
Myelodysplastic syndrome6 tests
Myelodysplastic syndrome associated with isolated del(5q)1 test
Myhre syndrome4 tests
Myofibrillar myopathy 21 test
Myoglobinuria, acute recurrent, autosomal recessive7 tests
Myopathy, lactic acidosis, and sideroblastic anemia 16 tests
Myopathy, lactic acidosis, and sideroblastic anemia 26 tests
Nail-patella syndrome7 tests
Namaqualand hip dysplasia6 tests
Nance-Horan syndrome1 test
Nanophthalmos 25 tests
Nasopharyngeal carcinoma17 tests
Neonatal intrahepatic cholestasis due to citrin deficiency6 tests
Neoplasm of stomach9 tests
Nephronophthisis 13 tests
Nephronophthisis 112 tests
Nephronophthisis 34 tests
Nephronophthisis 44 tests
Nephronophthisis-like nephropathy 11 test
Nephropathic cystinosis4 tests
Nephrotic syndrome, type 23 tests
Nephrotic syndrome, type 43 tests
Neural tube defects, folate-sensitive13 tests
Neuroblastoma, susceptibility to1 test
Neuroblastoma, susceptibility to, 25 tests
Neuroblastoma, susceptibility to, 37 tests
Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities1 test
Neurofibromatosis, type 11 test
Neurofibromatosis, type 26 tests
Neuronal ceroid lipofuscinosis 13 tests
Neuronal ceroid lipofuscinosis 101 test
Neuronal ceroid lipofuscinosis 24 tests
Neuronal ceroid lipofuscinosis 34 tests
Neuronal ceroid lipofuscinosis 53 tests
Neuronal ceroid lipofuscinosis 81 test
Neuronal ceroid lipofuscinosis 8 northern epilepsy variant2 tests
Neuronopathy, distal hereditary motor, type 51 test
Neuropathy, hereditary sensory and autonomic, type 1C1 test
Neurophysiologic defect in schizophrenia5 tests
Neutral 1 amino acid transport defect1 test
Neutral lipid storage myopathy1 test
Newfoundland cone-rod dystrophy5 tests
Niemann-Pick disease, type A4 tests
Niemann-Pick disease, type B1 test
Niemann-Pick disease, type C14 tests
Niemann-Pick disease, type C23 tests
Nijmegen breakage syndrome-like disorder5 tests
Non-Hodgkin lymphoma5 tests
Non-ketotic hyperglycinemia8 tests
Nonpapillary renal cell carcinoma13 tests
Noonan syndrome 17 tests
Noonan syndrome 31 test
Noonan syndrome 44 tests
Noonan syndrome 55 tests
Noonan syndrome 64 tests
Noonan syndrome 73 tests
Noonan syndrome 84 tests
Noonan syndrome 91 test
Noonan syndrome-like disorder with loose anagen hair4 tests
NPHP3-related Meckel-like syndrome1 test
Nystagmus 1, congenital, X-linked1 test
Nystagmus 6, congenital, X-linked7 tests
Obesity3 tests
Obesity due to congenital leptin deficiency2 tests
Obesity due to leptin receptor gene deficiency2 tests
Obesity due to pro-opiomelanocortin deficiency2 tests
Obesity due to prohormone convertase I deficiency2 tests
Occult macular dystrophy1 test
Ocular albinism with congenital sensorineural hearing loss4 tests
Ocular albinism, type I6 tests
Ocular cystinosis1 test
Oculocutaneous albinism type 14 tests
Oculocutaneous albinism type 1B4 tests
Oculocutaneous albinism type 34 tests
Oculocutaneous albinism type 44 tests
Oculofaciocardiodental syndrome1 test
Odontohypophosphatasia4 tests
Oguchi disease4 tests
Oguchi disease-11 test
Oguchi disease-21 test
Opioid dependence, susceptibility to, 11 test
Optic atrophy 37 tests
Optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy6 tests
Ornithine aminotransferase deficiency3 tests
Ornithine carbamoyltransferase deficiency7 tests
Orthostatic hypotension 11 test
Osteofibrous dysplasia2 tests
Osteogenesis imperfecta type 116 tests
Osteogenesis imperfecta type 122 tests
Osteogenesis imperfecta type 2, thin-bone1 test
Osteogenesis imperfecta type 54 tests
Osteogenesis imperfecta type 62 tests
Osteogenesis imperfecta type 78 tests
Osteogenesis imperfecta type 82 tests
Osteogenesis imperfecta type 92 tests
Osteogenesis imperfecta type I7 tests
Osteogenesis imperfecta type III6 tests
Osteogenesis imperfecta with normal sclerae, dominant form6 tests
Osteogenesis imperfecta, perinatal lethal5 tests
Osteogenesis imperfecta, recessive perinatal lethal1 test
Osteogenesis imperfecta, type III/IV1 test
Osteopathia striata with cranial sclerosis6 tests
Osteopetrosis with renal tubular acidosis6 tests
Osteoporosis with pseudoglioma1 test
Osteosarcoma1 test
Otofaciocervical syndrome 11 test
Otospondylomegaepiphyseal dysplasia, autosomal recessive6 tests
Ovarian neoplasm4 tests
Oxoglutaricaciduria1 test
Paget disease of bone 2, early-onset2 tests
Palmoplantar keratoderma-deafness syndrome5 tests
Pancreatic cancer, susceptibility to, 210 tests
Pancreatic cancer, susceptibility to, 38 tests
Pancreatic cancer, susceptibility to, 49 tests
Pancreatic insufficiency-anemia-hyperostosis syndrome1 test
Panic disorder 11 test
Papillary renal cell carcinoma type 15 tests
Papillary thyroid carcinoma1 test
Paragangliomas 14 tests
Paragangliomas 25 tests
Paragangliomas 37 tests
Paragangliomas 48 tests
Paragangliomas 57 tests
Parathyroid carcinoma2 tests
Parkinson disease 13, autosomal dominant, susceptibility to1 test
Paroxysmal nonkinesigenic dyskinesia1 test
Partial androgen insensitivity syndrome4 tests
Partial hypoxanthine-guanine phosphoribosyltransferase deficiency4 tests
Partington syndrome6 tests
Patterned macular dystrophy 15 tests
Pelizaeus-Merzbacher disease6 tests
Pendred syndrome4 tests
Permanent neonatal diabetes mellitus1 test
Peroxisome biogenesis disorder 10A (Zellweger)3 tests
Peroxisome biogenesis disorder 11A (Zellweger)5 tests
Peroxisome biogenesis disorder 12A (Zellweger)3 tests
Peroxisome biogenesis disorder 13A (Zellweger)1 test
Peroxisome biogenesis disorder 14B3 tests
Peroxisome biogenesis disorder 1A (Zellweger)3 tests
Peroxisome biogenesis disorder 2A (Zellweger)3 tests
Peroxisome biogenesis disorder 3A (Zellweger)2 tests
Peroxisome biogenesis disorder 4A (Zellweger)2 tests
Peroxisome biogenesis disorder 5A (Zellweger)1 test
Peroxisome biogenesis disorder 5B2 tests
Peroxisome biogenesis disorder 6A (Zellweger)3 tests
Peroxisome biogenesis disorder 7A (Zellweger)3 tests
Peroxisome biogenesis disorder 8A (Zellweger)1 test
Peroxisome biogenesis disorder 8B2 tests
Peroxisome biogenesis disorder 9B4 tests
Peroxisome biogenesis disorder type 3B1 test
Perrault syndrome 11 test
Perrault syndrome 25 tests
Persistent fetal circulation syndrome1 test
Peutz-Jeghers syndrome9 tests
Pfeiffer syndrome1 test
PGM1-congenital disorder of glycosylation6 tests
PHARC syndrome6 tests
Phenylketonuria8 tests
Pheochromocytoma22 tests
PHGDH deficiency1 test
Phosphate transport defect5 tests
Phosphoenolpyruvate carboxykinase deficiency, cytosolic3 tests
Phosphoenolpyruvate carboxykinase deficiency, mitochondrial4 tests
Phytanic acid storage disease4 tests
Pick disease1 test
Pigmentary pallidal degeneration1 test
Pigmentary retinal dystrophy9 tests
Pigmented nodular adrenocortical disease, primary, 12 tests
Pigmented paravenous retinochoroidal atrophy6 tests
Pili torti-deafness syndrome5 tests
Pilomatrixoma7 tests
Pituitary hormone deficiency, combined, 23 tests
Pituitary hormone deficiency, combined, 62 tests
Platyspondylic dysplasia, Torrance type6 tests
PMM2-congenital disorder of glycosylation8 tests
Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 11 test
Polycystic liver disease 3 with or without kidney cysts1 test
Polyglandular autoimmune syndrome, type 13 tests
Polyposis syndrome, hereditary mixed, 24 tests
Pontocerebellar hypoplasia type 66 tests
Posterior column ataxia-retinitis pigmentosa syndrome1 test
Posterior polymorphous corneal dystrophy 11 test
Posterior polymorphous corneal dystrophy 31 test
Postmenopausal osteoporosis8 tests
PPARG-related familial partial lipodystrophy1 test
Prader-Willi syndrome1 test
Pregnancy loss, recurrent, susceptibility to, 12 tests
Pregnancy loss, recurrent, susceptibility to, 22 tests
Premature ovarian failure 13 tests
Premature ovarian failure 31 test
Primary ciliary dyskinesia 141 test
Primary hyperoxaluria, type I4 tests
Primary hyperoxaluria, type II3 tests
Primary open angle glaucoma2 tests
Progressive demyelinating neuropathy with bilateral striatal necrosis1 test
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 17 tests
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 27 tests
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 37 tests
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 48 tests
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 57 tests
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 18 tests
Progressive familial intrahepatic cholestasis5 tests
Progressive familial intrahepatic cholestasis type 11 test
Progressive familial intrahepatic cholestasis type 25 tests
Progressive familial intrahepatic cholestasis type 36 tests
Progressive sclerosing poliodystrophy8 tests
Proline dehydrogenase deficiency1 test
Propionic acidemia19 tests
Protan defect1 test
Protoporphyria, erythropoietic, 11 test
Pseudo-Hurler polydystrophy1 test
Purine-nucleoside phosphorylase deficiency4 tests
PYCR1-related de Barsy syndrome1 test
Pyknodysostosis7 tests
Pyridoxine-dependent epilepsy5 tests
Pyruvate carboxylase deficiency9 tests
Pyruvate dehydrogenase complex deficiency6 tests
Pyruvate dehydrogenase E1-alpha deficiency5 tests
Pyruvate dehydrogenase E1-beta deficiency6 tests
Pyruvate dehydrogenase E2 deficiency7 tests
Pyruvate dehydrogenase E3 deficiency5 tests
Pyruvate dehydrogenase E3-binding protein deficiency6 tests
Pyruvate dehydrogenase phosphatase deficiency7 tests
Reis-Bucklers' corneal dystrophy1 test
Renal carnitine transport defect8 tests
Renal coloboma syndrome1 test
Renal cysts and diabetes syndrome1 test
Renal dysplasia and retinal aplasia1 test
Renal-hepatic-pancreatic dysplasia 11 test
Reticular dysgenesis1 test
Reticulate acropigmentation of Kitamura1 test
Retinal cone dystrophy 41 test
Retinal degeneration, autosomal recessive, clumped pigment type4 tests
Retinal macular dystrophy type 25 tests
Retinitis pigmentosa2 tests
Retinitis pigmentosa 11 test
Retinitis pigmentosa 106 tests
Retinitis pigmentosa 116 tests
Retinitis pigmentosa 127 tests
Retinitis pigmentosa 131 test
Retinitis pigmentosa 142 tests
Retinitis pigmentosa 176 tests
Retinitis pigmentosa 197 tests
Retinitis pigmentosa 26 tests
Retinitis pigmentosa 205 tests
Retinitis pigmentosa 256 tests
Retinitis pigmentosa 261 test
Retinitis pigmentosa 275 tests
Retinitis pigmentosa 286 tests
Retinitis pigmentosa 35 tests
Retinitis pigmentosa 306 tests
Retinitis pigmentosa 316 tests
Retinitis pigmentosa 331 test
Retinitis pigmentosa 361 test
Retinitis pigmentosa 373 tests
Retinitis pigmentosa 386 tests
Retinitis pigmentosa 394 tests
Retinitis pigmentosa 41 test
Retinitis pigmentosa 406 tests
Retinitis pigmentosa 415 tests
Retinitis pigmentosa 421 test
Retinitis pigmentosa 431 test
Retinitis pigmentosa 446 tests
Retinitis pigmentosa 456 tests
Retinitis pigmentosa 461 test
Retinitis pigmentosa 476 tests
Retinitis pigmentosa 485 tests
Retinitis pigmentosa 491 test
Retinitis pigmentosa 505 tests
Retinitis pigmentosa 511 test
Retinitis pigmentosa 546 tests
Retinitis pigmentosa 551 test
Retinitis pigmentosa 566 tests
Retinitis pigmentosa 571 test
Retinitis pigmentosa 581 test
Retinitis pigmentosa 596 tests
Retinitis pigmentosa 601 test
Retinitis pigmentosa 614 tests
Retinitis pigmentosa 76 tests
Retinitis pigmentosa 7, digenic4 tests
Retinitis pigmentosa 91 test
Retinitis pigmentosa, X-linked, and sinorespiratory infections, with or without deafness4 tests
Retinitis punctata albescens4 tests
Retinoblastoma1 test
Rett syndrome8 tests
Rett syndrome, congenital variant3 tests
RFT1-congenital disorder of glycosylation2 tests
Rheumatoid arthritis1 test
Rhizomelic chondrodysplasia punctata type 23 tests
Rhizomelic chondrodysplasia punctata type 34 tests
Ring dermoid of cornea1 test
Rothmund-Thomson syndrome3 tests
Roussy-Lévy syndrome1 test
Rubinstein-Taybi syndrome6 tests
Saccharopinuria1 test
Salla disease3 tests
Sandhoff disease3 tests
Sarcosine dehydrogenase deficiency1 test
Sarcotubular myopathy1 test
Schaaf-Yang syndrome3 tests
Schizencephaly1 test
Schizophrenia3 tests
Schizophrenia 41 test
Schwannomatosis 13 tests
Sclerosteosis 11 test
Scoliosis, isolated, susceptibility to, 36 tests
Seizures, benign familial neonatal, 13 tests
Sengers syndrome1 test
Senior-Loken syndrome 41 test
Senior-Loken syndrome 57 tests
Senior-Loken syndrome 66 tests
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis7 tests
Septo-optic dysplasia sequence1 test
Severe combined immunodeficiency due to DCLRE1C deficiency4 tests
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency6 tests
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive6 tests
Severe early-childhood-onset retinal dystrophy7 tests
Severe neonatal-onset encephalopathy with microcephaly7 tests
Severe X-linked mitochondrial encephalomyopathy4 tests
Sex-linked hereditary disorder2 tests
Shprintzen-Goldberg syndrome5 tests
Shwachman-Diamond syndrome 15 tests
Sialuria2 tests
Sideroblastic anemia 21 test
Simpson-Golabi-Behmel syndrome type 15 tests
Sjögren-Larsson syndrome4 tests
SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES6 tests
SKIN/HAIR/EYE PIGMENTATION 3, LIGHT/DARK SKIN4 tests
SKIN/HAIR/EYE PIGMENTATION 5, BLACK/NONBLACK HAIR4 tests
Skin/hair/eye pigmentation, variation in, 114 tests
Skin/hair/eye pigmentation, variation in, 21 test
SLC35A1-congenital disorder of glycosylation5 tests
SLC35A2-congenital disorder of glycosylation3 tests
Small cell lung carcinoma1 test
Smith-Lemli-Opitz syndrome4 tests
Smith-Magenis syndrome3 tests
Snowflake vitreoretinal degeneration2 tests
Solid tumor2 tests
Solitary median maxillary central incisor syndrome1 test
Sorsby fundus dystrophy1 test
Sotos syndrome1 test
Spastic ataxia 31 test
Spastic ataxia 41 test
Spastic ataxia 51 test
Sphingolipid activator protein 1 deficiency1 test
Spinal muscular atrophy, type II1 test
Spinal muscular atrophy, type IV1 test
Spinocerebellar ataxia type 11 test
Spinocerebellar ataxia type 101 test
Spinocerebellar ataxia type 146 tests
Spinocerebellar ataxia type 281 test
Spondyloepimetaphyseal dysplasia, Strudwick type1 test
Spondyloepiphyseal dysplasia congenita6 tests
Spondyloepiphyseal dysplasia with metatarsal shortening6 tests
Spondyloperipheral dysplasia1 test
Spongy degeneration of central nervous system3 tests
Squamous cell carcinoma of the head and neck13 tests
SRD5A3-congenital disorder of glycosylation2 tests
Stargardt disease 31 test
Stargardt disease 45 tests
Steinert myotonic dystrophy syndrome2 tests
Sterol carrier protein 2 deficiency4 tests
Stickler syndrome type 11 test
Stiff skin syndrome5 tests
Succinate-semialdehyde dehydrogenase deficiency7 tests
Succinyl-CoA acetoacetate transferase deficiency1 test
Sulfite oxidase deficiency1 test
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A1 test
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B5 tests
Sulfocysteinuria1 test
Supravalvar aortic stenosis1 test
Syndactyly-telecanthus-anogenital and renal malformations syndrome1 test
Syndromic microphthalmia type 52 tests
Syndromic X-linked intellectual disability Lubs type7 tests
Synovial sarcoma1 test
T-B+ severe combined immunodeficiency due to JAK3 deficiency3 tests
Tay-Sachs disease7 tests
Tay-Sachs disease, variant AB1 test
Telangiectasia, hereditary hemorrhagic, type 13 tests
Tetralogy of Fallot5 tests
Thanatophoric dysplasia type 12 tests
Thanatophoric dysplasia, type 22 tests
Thiel-Behnke corneal dystrophy1 test
Thrombocythemia 23 tests
Thrombocytopenia 21 test
Thrombocytopenia 41 test
Thrombophilia4 tests
Thrombophilia due to activated protein C resistance2 tests
Thrombophilia due to protein C deficiency, autosomal dominant6 tests
Thrombophilia due to protein C deficiency, autosomal recessive6 tests
Thyroid cancer, nonmedullary, 29 tests
Thyroid hormone metabolism, abnormal1 test
TMEM165-congenital disorder of glycosylation3 tests
Transcobalamin II deficiency9 tests
Transferrin serum level quantitative trait locus 21 test
Transient infantile hypertriglyceridemia and hepatosteatosis1 test
Triglyceride storage disease with ichthyosis1 test
Tuberous sclerosis 11 test
Tuberous sclerosis 21 test
Type 1 diabetes mellitus 201 test
Type 2 diabetes mellitus2 tests
Tyrosinase-positive oculocutaneous albinism6 tests
Tyrosinemia type I9 tests
Tyrosinemia type II7 tests
Tyrosinemia type III5 tests
UDPglucose-4-epimerase deficiency6 tests
Usher syndrome type 11 test
Usher syndrome type 1C7 tests
Usher syndrome type 1D11 tests
Usher syndrome type 1F3 tests
Usher syndrome type 1G1 test
Usher syndrome type 2A5 tests
Usher syndrome type 2C6 tests
Usher syndrome type 2D5 tests
Usher syndrome type 35 tests
Usher syndrome type 3B1 test
VACTERL with hydrocephalus13 tests
Van Buchem disease type 21 test
Vanishing white matter disease4 tests
Variegate porphyria2 tests
Velocardiofacial syndrome1 test
Very long chain acyl-CoA dehydrogenase deficiency13 tests
Vitamin B12-responsive methylmalonic acidemia, type cblDv24 tests
Vitamin D-dependent rickets type II with alopecia2 tests
Vitamin D-dependent rickets, type 11 test
Vitelliform macular dystrophy1 test
Vitelliform macular dystrophy 25 tests
Von Hippel-Lindau syndrome13 tests
Weill-Marchesani syndrome 2, dominant5 tests
Werdnig-Hoffmann disease1 test
Wilms tumor 114 tests
Wilson disease7 tests
Wilson-Turner syndrome1 test
Wolfram syndrome1 test
Wolfram syndrome 21 test
Wolfram-like syndrome1 test
Woolly hair-skin fragility syndrome1 test
Worth disease1 test
Wrinkly skin syndrome5 tests
X-linked cone-rod dystrophy 11 test
X-linked cone-rod dystrophy 31 test
X-linked distal spinal muscular atrophy type 35 tests
X-linked erythropoietic protoporphyria1 test
X-linked ichthyosis with steryl-sulfatase deficiency1 test
X-linked intellectual disability-psychosis-macroorchidism syndrome7 tests
X-linked lissencephaly with abnormal genitalia6 tests
X-linked mixed hearing loss with perilymphatic gusher3 tests
X-linked severe combined immunodeficiency3 tests
X-linked sideroblastic anemia 11 test
X-linked sideroblastic anemia with ataxia1 test

List of services

Clinical Testing/Confirmation of Mutations Identified Previously
Prenatal testing
Custom microarray analysis
Whole Exome Sequencing
Whole Genome Sequencing
Expanded Carrier Screening
Mitochondrial Testing
Single gene NIPT

List of certifications/licenses

Certifications

CLIAHelpCertification number assigned by the Clinical Laboratory Improvement Amendments (CLIA) program to the laboratory director. Minimal field for US labs offering clinical tests. Optional field for international labs or US labs performing research tests. If pending renewal or record has not been updated, the expiration date may be in the past., Number: 45D0660090, Expiration date: 2025-02-27
CAP, Number: 2109314, Expiration date: 2025-04-15

Licenses

CA - California Department of Public Health CDPH, Number: CDS-00800035, Effective date: 2024-02-02, Expiration date: 2025-02-01
MD - Maryland Department of Health and Mental Hygiene DHMH, Number: 1419, Effective date: 2018-07-01 Non-expiring
NY - New York State Department of Health NYSDOH, Number: PFI-4584, Effective date: 2024-07-01, Expiration date: 2025-06-30
PA - Pennsylvania Department of Health PADOH, Number: 27174A, Effective date: 2024-08-15, Expiration date: 2024-08-15
RI - State of Rhode Island Department of Health RIDOH, Number: LCO00879, Expiration date: 2024-12-30

IMPORTANT NOTE: NIH does not independently verify information submitted to the GTR; it relies on submitters to provide information that is accurate and not misleading. NIH makes no endorsements of tests or laboratories listed in the GTR. GTR is not a substitute for medical advice. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.