GTR Home > Laboratories > Baylor Genetics

Baylor Genetics

GTR Lab ID: 1006, Last updated:2021-07-29

Personnel

  • Director: Christine Eng, MD, ABMG, ABP, FACMG, DABMG, Chief Medical Officer, Chief Quality Officer
    Phone: 1-800-411-4363
    Fax: 1-800-434-9850
    Email: help@baylorgenetics.com
  • Director: Carlos Bacino, MD, ABMG, DABMG, Lab Director
  • Director: Weimin Bi, PhD, ABMG, DABMG, Lab Director
  • Director: Sarah Elsea, PhD, ABMG, FACMG, DABMG, Lab Director
    Phone: 800-411-GENE
    Fax: 713-798-2787
    Email: genetictest@bmgl.com
  • Director: Ning Liu, PhD, Lab Director
  • Director: Pengfei Liu, PhD, ABMG, DABMG, Lab Director
  • Director: Linyan Meng, PhD, Lab Director
  • Director: Brian Merritt, MD, ABPath, Lab Director
  • Director: Nichole Owen, PhD, Lab Director
  • Director: Jennifer Scull, PhD, ABMG, DABMG, Lab Director
  • Director: Janice Smith, PhD, ABMG, DABMG, Lab Director
  • Director: Qin Sun, PhD, ABMG, DABMG, Lab Director
  • Director: Vernon Sutton, MD, ABMG, DABMG, Lab Director
  • Director: Yue Wang, PhD, ABMG, FACMG, DABMG, Lab Director
  • Director: Fan Xia, PhD, ABMG, DABMG, Lab Director
  • Shashikant Kulkarni, PhD, MS, ABMG, FACMG, DABMG, Chief Scientific Officer
  • Sandra Peacock, MS, Certified Genetic counselor, CGC, Genetic Counselor
    Phone: 800-411-GENE
    Fax: 713-798-2787
    Email: genetictest@bmgl.com
  • Eric Schmitt, PhD, MS, Certified Genetic counselor, CGC, Genetic Counselor
    Phone: 800-411-GENE
    Fax: 713-798-2787
    Email: genetictest@bmgl.com
  • Patricia Ward, MS, Certified Genetic counselor, CGC, Genetic Counselor
    Phone: 800-411-GENE
    Fax: 713-798-2787
    Email: genetictest@bmgl.com

Conditions and tests

  • 3 beta-Hydroxysteroid dehydrogenase deficiency1 test
  • 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 V4 tests
  • 46,XX sex reversal, type 12 tests
  • 46,XY sex reversal, type 11 test
  • Abetalipoproteinaemia4 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 alcohol sensitivity1 test
  • 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 family, member 9, deficiency of7 tests
  • Adenine phosphoribosyltransferase deficiency3 tests
  • Adenylate kinase deficiency, hemolytic anemia due to1 test
  • Adenylosuccinate lyase deficiency8 tests
  • Adrenal insufficiency, congenital, with 46,XY sex reversal, partial or complete1 test
  • Adrenocortical carcinoma, hereditary17 tests
  • Adrenoleukodystrophy7 tests
  • Adult hypophosphatasia9 tests
  • Age-related macular degeneration 101 test
  • Age-related macular degeneration 27 tests
  • Age-related macular degeneration 31 test
  • Agenesis of the corpus callosum with peripheral neuropathy5 tests
  • AICAR transformylase/IMP cyclohydrolase deficiency1 test
  • Alagille syndrome 13 tests
  • Albinism, ocular, with sensorineural deafness4 tests
  • ALG1-CDG5 tests
  • ALG12-congenital disorder of glycosylation5 tests
  • ALG2-CDG2 tests
  • ALG3-CDG5 tests
  • ALG8-CDG4 tests
  • ALG9 congenital disorder of glycosylation5 tests
  • Alkaptonuria1 test
  • alpha Thalassemia6 tests
  • Alpha-1-antitrypsin deficiency5 tests
  • Alpha-B crystallinopathy1 test
  • Alpha-methylacyl-CoA racemase deficiency4 tests
  • Alport syndrome, autosomal recessive4 tests
  • Alstrom syndrome1 test
  • Alveolar capillary dysplasia with pulmonary venous misalignment8 tests
  • Alzheimer disease2 tests
  • Alzheimer disease, type 31 test
  • Aminoglycoside-induced deafness5 tests
  • Amish lethal microcephaly1 test
  • Amyotrophic lateral sclerosis 14, with or without frontotemporal dementia1 test
  • Amyotrophic lateral sclerosis 203 tests
  • Amyotrophic lateral sclerosis type 11 test
  • Amyotrophic lateral sclerosis type 123 tests
  • Amyotrophy, hereditary neuralgic3 tests
  • Anauxetic dysplasia 14 tests
  • Androgen resistance syndrome4 tests
  • Anemia, nonspherocytic hemolytic, due to G6PD deficiency4 tests
  • Anemia, sideroblastic, 11 test
  • Anemia, sideroblastic, 2, pyridoxine-refractory1 test
  • Angelman syndrome19 tests
  • Anhaptoglobinemia1 test
  • Anhidrotic ectodermal dysplasia-immunodeficiency-osteopetrosis-lymphedema syndrome2 tests
  • Aniridia 11 test
  • Anophthalmia/microphthalmia-esophageal atresia syndrome1 test
  • Anterior segment dysgenesis 11 test
  • Anterior segment dysgenesis 31 test
  • Anterior segment dysgenesis 41 test
  • Anxiety2 tests
  • Aplastic anemia5 tests
  • Arginase deficiency8 tests
  • Arginine:glycine amidinotransferase deficiency9 tests
  • Argininosuccinate lyase deficiency8 tests
  • Arrhythmogenic right ventricular dysplasia 81 test
  • Arteriohepatic dysplasia4 tests
  • Arthrogryposis, mental retardation, and seizures4 tests
  • Aspartate aminotransferase, serum level of, quantitative trait locus 11 test
  • Aspartylglucosaminuria6 tests
  • Ataxia, spastic, 3, autosomal recessive1 test
  • Ataxia, spastic, 4, autosomal recessive1 test
  • Ataxia-oculomotor apraxia type 14 tests
  • Ataxia-telangiectasia syndrome12 tests
  • Ataxia-telangiectasia-like disorder3 tests
  • Ataxia-telangiectasia-like disorder 13 tests
  • Atelosteogenesis type II2 tests
  • Atrophia bulborum hereditaria4 tests
  • Autism, susceptibility to, X-linked 37 tests
  • Autism, susceptibility to, X-linked 66 tests
  • Autistic disorder of childhood onset2 tests
  • Autoimmune lymphoproliferative syndrome type 2B1 test
  • Autosomal dominant nonsyndromic deafness 61 test
  • Autosomal dominant optic atrophy classic form5 tests
  • Autosomal dominant osteopetrosis 11 test
  • Autosomal dominant osteopetrosis 25 tests
  • Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 17 tests
  • Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 27 tests
  • Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 37 tests
  • Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 48 tests
  • Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 57 tests
  • Autosomal recessive congenital ichthyosis 15 tests
  • Autosomal recessive congenital ichthyosis 4A1 test
  • Autosomal recessive congenital ichthyosis 4B1 test
  • Autosomal recessive cutis laxa type 2B1 test
  • Autosomal recessive cutis laxa type 3B1 test
  • Autosomal recessive cutis laxa type IA1 test
  • Autosomal recessive DOPA responsive dystonia5 tests
  • Autosomal recessive limb-girdle muscular dystrophy type 2D3 tests
  • Autosomal recessive limb-girdle muscular dystrophy type 2E3 tests
  • Autosomal recessive osteopetrosis 16 tests
  • Autosomal recessive osteopetrosis 21 test
  • Autosomal recessive osteopetrosis 44 tests
  • Autosomal recessive osteopetrosis 72 tests
  • Autosomal recessive polycystic kidney disease7 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
  • B4GALT1-CDG5 tests
  • Bannayan-Riley-Ruvalcaba syndrome7 tests
  • Bardet-Biedl syndrome4 tests
  • Bardet-Biedl syndrome 18 tests
  • Bardet-Biedl syndrome 106 tests
  • Bardet-Biedl syndrome 123 tests
  • Bardet-Biedl syndrome 145 tests
  • Bardet-Biedl syndrome 153 tests
  • Bardet-Biedl syndrome 27 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
  • Bare lymphocyte syndrome type 11 test
  • Basal cell carcinoma, susceptibility to, 13 tests
  • Basal cell carcinoma, susceptibility to, 712 tests
  • Becker muscular dystrophy8 tests
  • Beckwith-Wiedemann syndrome5 tests
  • Benign familial neonatal seizures 13 tests
  • Benign recurrent intrahepatic cholestasis type 26 tests
  • Bestrophinopathy, autosomal recessive5 tests
  • beta Thalassemia8 tests
  • Beta-D-mannosidosis1 test
  • Beta-hydroxyisobutyryl-CoA deacylase deficiency1 test
  • Beta-thalassemia, dominant inclusion body type2 tests
  • BH4-deficient hyperphenylalaninemia A7 tests
  • Bietti crystalline corneoretinal dystrophy1 test
  • Bifunctional peroxisomal enzyme deficiency7 tests
  • Biotinidase deficiency12 tests
  • Blepharophimosis, ptosis, and epicanthus inversus1 test
  • Bloom syndrome11 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 osteosarcoma18 tests
  • Bothnia retinal dystrophy6 tests
  • Bradyopsia1 test
  • Branchiootic syndrome 11 test
  • Branchiootorenal Syndrome 11 test
  • Breast-ovarian cancer, familial 110 tests
  • Breast-ovarian cancer, familial 211 tests
  • Breast-ovarian cancer, familial 34 tests
  • Breast-ovarian cancer, familial 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
  • Cancer of cervix1 test
  • Carcinoid tumor of intestine4 tests
  • Carcinoma of colon13 tests
  • Carcinoma of pancreas17 tests
  • Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency6 tests
  • Cardiofaciocutaneous syndrome 14 tests
  • Cardiofaciocutaneous syndrome 31 test
  • Cardiofaciocutaneous syndrome 41 test
  • Cardiomyopathy, dilated, 1u1 test
  • Carney complex, type 15 tests
  • Carney-Stratakis syndrome5 tests
  • Carnitine acylcarnitine translocase deficiency8 tests
  • Carnitine palmitoyltransferase 1A deficiency12 tests
  • Carnitine palmitoyltransferase II deficiency, infantile13 tests
  • Carnitine palmitoyltransferase II deficiency, lethal neonatal11 tests
  • Carnitine palmitoyltransferase II deficiency, myopathic, stress-induced11 tests
  • Carotid intimal medial thickness 11 test
  • Cataract 114 tests
  • Cataract 16, multiple types1 test
  • Cataract 181 test
  • Cataract 401 test
  • Cerebral amyloid angiopathy, APP-related1 test
  • Cerebral palsy, spastic quadriplegic, 11 test
  • Ceroid lipofuscinosis neuronal 26 tests
  • Ceroid lipofuscinosis, neuronal, 8, northern epilepsy variant2 tests
  • Charcot-Marie-Tooth disease dominant intermediate d1 test
  • 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, axonal, type 2EE1 test
  • Charcot-Marie-Tooth disease, demyelinating, type 1b1 test
  • Charcot-Marie-Tooth disease, recessive intermediate B6 tests
  • Charcot-Marie-Tooth disease, recessive intermediate d3 tests
  • Charcot-Marie-Tooth disease, type 2A11 test
  • Charcot-Marie-Tooth disease, type 2A2A3 tests
  • Charcot-Marie-Tooth disease, type 4k1 test
  • Charcot-Marie-Tooth disease, type IA1 test
  • CHARGE association7 tests
  • Charlevoix-Saguenay spastic ataxia5 tests
  • Childhood hypophosphatasia7 tests
  • Cholestanol storage disease6 tests
  • Cholestasis, benign recurrent intrahepatic 15 tests
  • Cholestasis, intrahepatic, of pregnancy 34 tests
  • Cholestasis, intrahepatic, of pregnancy, 11 test
  • Cholestasis, progressive familial intrahepatic 11 test
  • Cholesterol monooxygenase (side-chain cleaving) deficiency1 test
  • Chondrocalcinosis 21 test
  • Choroid plexus papilloma17 tests
  • Choroidal dystrophy, central areolar 26 tests
  • Choroideremia1 test
  • Christianson syndrome1 test
  • Chromosome 5q deletion syndrome1 test
  • Chromosome 8, partial trisomy1 test
  • Chronic granulomatous disease, X-linked1 test
  • Chronic lymphocytic leukemia1 test
  • Chronic myelogenous leukemia, BCR-ABL1 positive4 tests
  • Ciliary dyskinesia, primary, 141 test
  • Citrullinemia type I9 tests
  • Citrullinemia type II10 tests
  • Classic homocystinuria11 tests
  • Cleidocranial dysostosis3 tests
  • Cobalamin C disease12 tests
  • Coenzyme Q10 deficiency, primary 16 tests
  • Coenzyme Q10 deficiency, primary, 21 test
  • Coenzyme Q10 deficiency, primary, 36 tests
  • Coenzyme Q10 deficiency, primary, 46 tests
  • Coenzyme Q10 deficiency, primary, 51 test
  • Coenzyme Q10 deficiency, primary, 61 test
  • COG1 congenital disorder of glycosylation5 tests
  • COG7 congenital disorder of glycosylation5 tests
  • Coloboma of optic nerve (disease)2 tests
  • Colobomatous optic disc-macular atrophy-chorioretinopathy syndrome1 test
  • Combined deficiency of sialidase AND beta galactosidase2 tests
  • Combined immunodeficiency, X-linked3 tests
  • Combined malonic and methylmalonic aciduria6 tests
  • Combined molybdoflavoprotein enzyme deficiency9 tests
  • Combined oxidative phosphorylation deficiency 18 tests
  • Combined oxidative phosphorylation deficiency 104 tests
  • Combined oxidative phosphorylation deficiency 123 tests
  • Combined oxidative phosphorylation deficiency 145 tests
  • Combined oxidative phosphorylation deficiency 152 tests
  • Combined oxidative phosphorylation deficiency 164 tests
  • Combined oxidative phosphorylation deficiency 21 test
  • Combined oxidative phosphorylation deficiency 224 tests
  • Combined oxidative phosphorylation deficiency 245 tests
  • Combined oxidative phosphorylation deficiency 254 tests
  • Combined oxidative phosphorylation deficiency 36 tests
  • Combined oxidative phosphorylation deficiency 353 tests
  • Combined oxidative phosphorylation deficiency 392 tests
  • Combined oxidative phosphorylation deficiency 41 test
  • Combined oxidative phosphorylation deficiency 56 tests
  • Combined oxidative phosphorylation deficiency 64 tests
  • Combined oxidative phosphorylation deficiency 75 tests
  • Combined oxidative phosphorylation deficiency 86 tests
  • Combined oxidative phosphorylation deficiency 94 tests
  • Combined saposin deficiency1 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 dystrophy, X-linked 11 test
  • Congenital amegakaryocytic thrombocytopenia5 tests
  • 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 central hypoventilation7 tests
  • Congenital chromosomal disease2 tests
  • Congenital disorder of deglycosylation3 tests
  • Congenital disorder of glycosylation type 1C5 tests
  • Congenital disorder of glycosylation type 1E2 tests
  • Congenital disorder of glycosylation type 1M5 tests
  • Congenital disorder of glycosylation type 1N2 tests
  • Congenital disorder of glycosylation type 1O2 tests
  • Congenital disorder of glycosylation type 1P3 tests
  • Congenital disorder of glycosylation type 1Q2 tests
  • Congenital disorder of glycosylation type 1t6 tests
  • Congenital disorder of glycosylation type 2B4 tests
  • Congenital disorder of glycosylation type 2F5 tests
  • Congenital disorder of glycosylation type 2H5 tests
  • Congenital disorder of glycosylation type 2i3 tests
  • Congenital disorder of glycosylation type 2J1 test
  • Congenital disorder of glycosylation type 2k3 tests
  • Congenital disorder of glycosylation type 2L1 test
  • Congenital disorder of glycosylation type Ir4 tests
  • Congenital disorder of glycosylation, type Ia12 tests
  • Congenital disorder of glycosylation, type IIa2 tests
  • Congenital hyperammonemia, type I7 tests
  • Congenital hypomyelinating neuropathy1 test
  • Congenital hypothyroidism3 tests
  • Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type9 tests
  • Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A44 tests
  • Congenital muscular dystrophy-dystroglycanopathy without mental retardation, type B44 tests
  • Congenital muscular hypertrophy-cerebral syndrome1 test
  • Congenital myasthenic syndrome 131 test
  • Congenital myasthenic syndrome 4C2 tests
  • Congenital stationary night blindness, autosomal dominant 11 test
  • Congenital stationary night blindness, autosomal dominant 25 tests
  • 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 2A1 test
  • Congenital stationary night blindness, type 2B7 tests
  • Corneal dystrophy, Fuchs endothelial, 61 test
  • Corneal dystrophy, lattice type 3A1 test
  • Corneal epithelial dystrophy1 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
  • Cortical dysplasia, complex, with other brain malformations 11 test
  • Corticosterone 18-monooxygenase deficiency1 test
  • Corticosterone methyloxidase type 2 deficiency1 test
  • Costello syndrome4 tests
  • COVID-191 test
  • Cowden syndrome1 test
  • Cowden syndrome 114 tests
  • Coxa plana6 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 syndrome2 tests
  • Crigler-Najjar syndrome type 13 tests
  • Crigler-Najjar syndrome, type II2 tests
  • Crouzon syndrome1 test
  • Crouzon syndrome with acanthosis nigricans2 tests
  • Cutaneous malignant melanoma 114 tests
  • Cutaneous malignant melanoma 25 tests
  • Cutaneous malignant melanoma 37 tests
  • Cutaneous malignant melanoma 51 test
  • Cutis laxa with osteodystrophy2 tests
  • Cutis laxa, autosomal dominant 11 test
  • Cutis laxa, autosomal dominant 21 test
  • Cutis laxa, autosomal recessive IIIA1 test
  • Cutis laxa, X-linked5 tests
  • Cystic fibrosis20 tests
  • Cystinuria1 test
  • Czech dysplasia, metatarsal type6 tests
  • D-2-hydroxyglutaric aciduria 11 test
  • D-2-hydroxyglutaric aciduria 21 test
  • D-Glyceric aciduria1 test
  • Deafness dystonia syndrome6 tests
  • Deafness, autosomal dominant 101 test
  • Deafness, autosomal dominant 114 tests
  • Deafness, autosomal dominant 3a5 tests
  • Deafness, autosomal dominant 3b1 test
  • Deafness, autosomal dominant 641 test
  • Deafness, autosomal recessive 124 tests
  • Deafness, autosomal recessive 185 tests
  • Deafness, autosomal recessive 1A9 tests
  • Deafness, autosomal recessive 1b1 test
  • Deafness, autosomal recessive 233 tests
  • Deafness, autosomal recessive 316 tests
  • Deafness, autosomal recessive 4, with enlarged vestibular aqueduct1 test
  • Deafness, autosomal recessive 741 test
  • Deafness, autosomal recessive 972 tests
  • Deafness, congenital heart defects, and posterior embryotoxon4 tests
  • Deafness, X-linked 23 tests
  • Deficiency of 2-methylbutyryl-CoA dehydrogenase8 tests
  • Deficiency of 3-hydroxyacyl-CoA dehydrogenase2 tests
  • Deficiency of acetyl-CoA acetyltransferase8 tests
  • Deficiency of alpha-mannosidase6 tests
  • Deficiency of butyryl-CoA dehydrogenase8 tests
  • Deficiency of cytochrome-b5 reductase1 test
  • Deficiency of galactokinase6 tests
  • Deficiency of glycerol kinase2 tests
  • Deficiency of guanidinoacetate methyltransferase9 tests
  • Deficiency of hydroxymethylglutaryl-CoA lyase11 tests
  • Deficiency of isobutyryl-CoA dehydrogenase6 tests
  • Deficiency of malonyl-CoA decarboxylase1 test
  • Deficiency of phosphoserine phosphatase1 test
  • Deficiency of pyrroline-5-carboxylate reductase6 tests
  • Deficiency of steroid 11-beta-monooxygenase4 tests
  • Deficiency of steroid 17-alpha-monooxygenase6 tests
  • Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase11 tests
  • Dejerine-Sottas disease1 test
  • Dendritic cell, monocyte, B lymphocyte, and natural killer lymphocyte deficiency2 tests
  • Dent disease type 24 tests
  • Dermatofibrosis lenticularis disseminata6 tests
  • Desmoid disease, hereditary6 tests
  • Deuteranopia1 test
  • Diabetes mellitus type 11 test
  • Diabetes mellitus, insulin-dependent, 201 test
  • Diamond-Blackfan anemia7 tests
  • Diamond-Blackfan anemia 51 test
  • Diaphyseal dysplasia6 tests
  • Diarrhea 5, with tufting enteropathy, congenital4 tests
  • DiGeorge Syndrome4 tests
  • Dihydropteridine reductase deficiency2 tests
  • Dihydropyrimidine dehydrogenase deficiency5 tests
  • Dilated cardiomyopathy 1GG6 tests
  • Dilated cardiomyopathy 1J1 test
  • Dilated cardiomyopathy 1X1 test
  • Dilated cardiomyopathy 3B4 tests
  • Dilated cardiomyopathy with woolly hair and keratoderma1 test
  • Dimethylglycine dehydrogenase deficiency1 test
  • Disordered steroidogenesis due to cytochrome p450 oxidoreductase deficiency1 test
  • Distal hereditary motor neuronopathy type 51 test
  • Distal spinal muscular atrophy, X-linked 35 tests
  • Dopa-responsive dystonia due to sepiapterin reductase deficiency1 test
  • Doyne honeycomb retinal dystrophy1 test
  • DPAGT1-CDG1 test
  • Drash syndrome3 tests
  • Duchenne muscular dystrophy10 tests
  • Dyskeratosis congenita, autosomal recessive, 54 tests
  • Dystonia 161 test
  • Early infantile epileptic encephalopathy 27 tests
  • Early infantile epileptic encephalopathy 44 tests
  • Early infantile epileptic encephalopathy 93 tests
  • Early myoclonic encephalopathy1 test
  • Ectodermal dysplasia and immunodeficiency 12 tests
  • Ectopia lentis, isolated, autosomal dominant5 tests
  • Ehlers-Danlos syndrome dermatosparaxis type4 tests
  • Ehlers-Danlos syndrome, arthrochalasia type, 17 tests
  • Ehlers-danlos syndrome, arthrochalasia type, 21 test
  • Ehlers-Danlos syndrome, cardiac valvular type7 tests
  • Ehlers-Danlos syndrome, classic type10 tests
  • Ehlers-Danlos syndrome, hydroxylysine-deficient3 tests
  • Ehlers-Danlos syndrome, spondylodysplastic type, 17 tests
  • Ehlers-Danlos syndrome, type 35 tests
  • Ehlers-Danlos syndrome, type 47 tests
  • Ehlers-Danlos syndrome, type 7A1 test
  • Ehlers-Danlos syndrome, type 7B1 test
  • Encephalopathy due to defective mitochondrial and peroxisomal fission 14 tests
  • Encephalopathy, acute, infection-induced, 4, susceptibility to6 tests
  • Endometrial carcinoma16 tests
  • Enhanced S-cone syndrome2 tests
  • Epidermal nevus1 test
  • Epidermolysis bullosa simplex Dowling-Meara type1 test
  • Epidermolysis bullosa simplex with migratory circinate erythema1 test
  • Epidermolysis bullosa simplex with mottled pigmentation1 test
  • Epidermolysis bullosa simplex, Koebner type1 test
  • Epileptic encephalopathy, early infantile, 16 tests
  • Epiphyseal dysplasia, multiple, with myopia and conductive deafness6 tests
  • Erythrocyte lactate transporter defect2 tests
  • Erythrocytosis, familial, 213 tests
  • Ethylmalonic encephalopathy9 tests
  • Exercise-induced hyperinsulinism3 tests
  • Exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarial hyperostosis1 test
  • Exudative vitreoretinopathy 14 tests
  • Exudative vitreoretinopathy 44 tests
  • Exudative vitreoretinopathy 54 tests
  • Fabry disease6 tests
  • Factor V deficiency2 tests
  • Familial adenomatous polyposis 112 tests
  • Familial atrial myxoma2 tests
  • Familial atypical mycobacteriosis, type 1, X-linked2 tests
  • Familial cancer of breast37 tests
  • Familial colorectal cancer5 tests
  • Familial dysautonomia10 tests
  • Familial expansile osteolysis2 tests
  • Familial exudative vitreoretinopathy, X-linked1 test
  • Familial hemophagocytic lymphohistiocytosis 22 tests
  • Familial hypercholesterolemia7 tests
  • Familial hypertriglyceridemia1 test
  • Familial hypertrophic cardiomyopathy 17 tests
  • Familial infantile myasthenia4 tests
  • Familial isolated deficiency of vitamin E5 tests
  • Familial Mediterranean fever1 test
  • Familial medullary thyroid carcinoma4 tests
  • Familial partial lipodystrophy 31 test
  • Familial platelet disorder with associated myeloid malignancy4 tests
  • Familial porphyria cutanea tarda1 test
  • Familial prostate carcinoma1 test
  • Fanconi anemia, complementation group C9 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
  • Febrile seizures, familial, 44 tests
  • Fetal hemoglobin quantitative trait locus 12 tests
  • Fibrosis of extraocular muscles, congenital, 11 test
  • Fibrosis of extraocular muscles, congenital, 21 test
  • Fibrosis of extraocular muscles, congenital, 3a, with or without extraocular involvement1 test
  • Finnish congenital nephrotic syndrome5 tests
  • Focal dermal hypoplasia3 tests
  • Follicular lymphoma 12 tests
  • Fragile X syndrome9 tests
  • Fragile X tremor/ataxia syndrome3 tests
  • Frasier syndrome3 tests
  • Friedreich ataxia 14 tests
  • Frontotemporal dementia1 test
  • Fructose-biphosphatase deficiency7 tests
  • Fumarase deficiency3 tests
  • Galactosylceramide beta-galactosidase deficiency7 tests
  • Gamma-aminobutyric acid transaminase deficiency1 test
  • Gastric lymphoma2 tests
  • Gastrointestinal stromal tumor5 tests
  • Gaucher disease type I9 tests
  • Gaucher disease type II6 tests
  • Gaucher disease type III6 tests
  • Gaucher disease, atypical, due to saposin C deficiency1 test
  • Gaucher disease, perinatal lethal6 tests
  • Geleophysic dysplasia 25 tests
  • Generalized juvenile polyposis/juvenile polyposis coli9 tests
  • Gingival fibromatosis 13 tests
  • Glaucoma 1, open angle, A4 tests
  • Glaucoma 3, primary congenital, A7 tests
  • Glaucoma, normal tension, susceptibility to5 tests
  • Glioma susceptibility 114 tests
  • Glioma susceptibility 27 tests
  • Glioma susceptibility 310 tests
  • Glucose-6-phosphate transport defect9 tests
  • GLUT1 deficiency syndrome 13 tests
  • GLUT1 deficiency syndrome 23 tests
  • Glutaric aciduria, type 111 tests
  • Glutaryl-CoA oxidase deficiency6 tests
  • Glutathione peroxidase deficiency1 test
  • Glycine N-methyltransferase deficiency3 tests
  • Glycogen storage disease 0, muscle6 tests
  • Glycogen storage disease due to glucose-6-phosphatase deficiency type IA11 tests
  • Glycogen storage disease due to hepatic glycogen synthase deficiency7 tests
  • Glycogen storage disease due to muscle beta-enolase deficiency6 tests
  • Glycogen storage disease IIIa3 tests
  • Glycogen storage disease IIIb3 tests
  • Glycogen storage disease IXb6 tests
  • Glycogen storage disease IXc6 tests
  • Glycogen storage disease IXd6 tests
  • Glycogen storage disease type III6 tests
  • Glycogen storage disease type IXa16 tests
  • Glycogen storage disease type X6 tests
  • Glycogen storage disease XI4 tests
  • Glycogen storage disease XV3 tests
  • Glycogen storage disease, type II9 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
  • GM1 gangliosidosis type 23 tests
  • GM1 gangliosidosis type 33 tests
  • GNE myopathy10 tests
  • Gorlin syndrome6 tests
  • GRACILE syndrome7 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 disease8 tests
  • Heimler syndrome 11 test
  • Heimler syndrome 21 test
  • Heinz body anemia2 tests
  • 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 hexokinase deficiency1 test
  • Hemolytic anemia, nonspherocytic, due to glucose phosphate isomerase deficiency1 test
  • Hepatic adenomas, familial1 test
  • Hepatic methionine adenosyltransferase deficiency1 test
  • Hepatocellular carcinoma19 tests
  • Hereditary coproporphyria1 test
  • Hereditary diffuse gastric cancer8 tests
  • Hereditary disease172 tests
  • Hereditary fructosuria10 tests
  • Hereditary hemorrhagic telangiectasia2 tests
  • Hereditary hemorrhagic telangiectasia type 13 tests
  • Hereditary leiomyomatosis and renal cell cancer5 tests
  • Hereditary liability to pressure palsies1 test
  • Hereditary mixed polyposis syndrome 24 tests
  • Hereditary motor and sensory neuropathy with optic atrophy2 tests
  • Hereditary nonpolyposis colorectal cancer type 46 tests
  • Hereditary nonpolyposis colorectal cancer type 56 tests
  • Hereditary nonpolyposis colorectal cancer type 85 tests
  • Hereditary pancreatitis6 tests
  • Hereditary sensory and autonomic neuropathy type IC1 test
  • Hereditary spastic paraplegia 131 test
  • Hereditary spastic paraplegia 25 tests
  • Hereditary spastic paraplegia 74 tests
  • Hereditary xanthinuria type 13 tests
  • Hermansky-Pudlak syndrome 14 tests
  • Hermansky-Pudlak syndrome 21 test
  • Hermansky-Pudlak syndrome 37 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
  • Herpes simplex encephalitis 21 test
  • Hidrotic ectodermal dysplasia syndrome1 test
  • Hirschsprung disease 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, cblD type, variant 14 tests
  • Homocystinuria-Megaloblastic anemia due to defect in cobalamin metabolism, cblE complementation type8 tests
  • HSD10 disease6 tests
  • Huntington disease2 tests
  • Hurler syndrome6 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
  • Hyperaldosteronism, familial, type I4 tests
  • Hyperammonemia, type III7 tests
  • Hypercalcemia, infantile, 11 test
  • Hypercoagulability4 tests
  • Hyperinsulinemic hypoglycemia, familial, 14 tests
  • Hyperinsulinemic hypoglycemia, familial, 41 test
  • Hyperinsulinism due to glucokinase deficiency1 test
  • Hyperinsulinism-hyperammonemia syndrome4 tests
  • Hyperlysinemia1 test
  • Hypermethioninemia with s-adenosylhomocysteine hydrolase deficiency3 tests
  • Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome10 tests
  • Hyperparathyroidism 13 tests
  • Hyperparathyroidism 24 tests
  • Hyperphosphatasemia tarda1 test
  • Hyperphosphatasemia with bone disease2 tests
  • Hyperthyroidism, familial gestational2 tests
  • Hyperthyroidism, nonautoimmune2 tests
  • Hypertriglyceridemia, transient infantile1 test
  • Hyperuricemia, pulmonary hypertension, renal failure, and alkalosis1 test
  • Hypochondroplasia2 tests
  • Hypogonadotropic hypogonadism 5 with or without anosmia6 tests
  • Hypogonadotropic hypogonadism 7 with or without anosmia6 tests
  • Hypomyelination, global cerebral1 test
  • Hypopigmentation, organomegaly, and delayed myelination and development1 test
  • Hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa, and pallidal degeneration1 test
  • Hypospadias 1, X-linked4 tests
  • Hypothyroidism, congenital, nongoitrous, 12 tests
  • Hystrix-like ichthyosis with deafness5 tests
  • Ichthyosis, spastic quadriplegia, and mental retardation1 test
  • Idiopathic generalized epilepsy1 test
  • Idiopathic hypereosinophilic syndrome1 test
  • Idiopathic nephrotic syndrome5 tests
  • Imerslund-Gräsbeck syndrome1 test
  • Iminoglycinuria1 test
  • Immunodeficiency 181 test
  • Immunodeficiency 233 tests
  • Immunodeficiency 27A1 test
  • Immunodeficiency 31C1 test
  • Immunodeficiency without anhidrotic ectodermal dysplasia2 tests
  • Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 11 test
  • Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 23 tests
  • 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 gangliosidosis3 tests
  • Infantile hypophosphatasia7 tests
  • Infantile nephronophthisis3 tests
  • Infantile neuroaxonal dystrophy2 tests
  • Infantile nystagmus, X-linked1 test
  • Infantile onset spinocerebellar ataxia8 tests
  • Insulin-resistant diabetes mellitus AND acanthosis nigricans2 tests
  • Intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, and genital anomalies2 tests
  • Intrinsic factor deficiency6 tests
  • Iodotyrosine deiodination defect3 tests
  • Irido-corneo-trabecular dysgenesis1 test
  • Ischemic stroke, susceptibility to8 tests
  • Isolated sulfite oxidase deficiency2 tests
  • Isovaleryl-CoA dehydrogenase deficiency11 tests
  • Jackson-Weiss syndrome1 test
  • Joubert syndrome1 test
  • Joubert syndrome 27 tests
  • Joubert syndrome 321 test
  • Joubert syndrome 42 tests
  • Joubert syndrome 56 tests
  • Joubert syndrome 61 test
  • Joubert syndrome 91 test
  • Joubert syndrome with hepatic defect3 tests
  • Junctional epidermolysis bullosa gravis of Herlitz4 tests
  • Junctional epidermolysis bullosa, non-Herlitz type7 tests
  • Juvenile myelomonocytic leukemia6 tests
  • Juvenile nephropathic cystinosis3 tests
  • Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome5 tests
  • Juvenile retinoschisis4 tests
  • Kahrizi syndrome4 tests
  • Kennedy disease4 tests
  • Keratitis-ichthyosis-deafness syndrome, autosomal dominant5 tests
  • Keratoconus 14 tests
  • Keratosis palmoplantaris striata II1 test
  • Kniest dysplasia6 tests
  • Knuckle pads, deafness AND leukonychia syndrome5 tests
  • Kostmann syndrome1 test
  • Krabbe disease, atypical, due to saposin A deficiency1 test
  • Kugelberg-Welander disease1 test
  • L-2-hydroxyglutaric aciduria1 test
  • Lactate dehydrogenase B deficiency1 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
  • Leigh syndrome49 tests
  • LEOPARD syndrome 16 tests
  • LEOPARD syndrome 25 tests
  • LEOPARD syndrome 33 tests
  • Leprechaunism syndrome1 test
  • Leptin deficiency or dysfunction2 tests
  • Leptin receptor deficiency2 tests
  • Lesch-Nyhan syndrome6 tests
  • Lethal acantholytic epidermolysis bullosa1 test
  • Lethal osteosclerotic bone dysplasia6 tests
  • Leukemia, acute lymphoblastic, susceptibility to, 35 tests
  • Leukemia, chronic lymphocytic 11 test
  • Leukocyte adhesion deficiency type II5 tests
  • Leukodystrophy, hypomyelinating, 23 tests
  • Leukodystrophy, hypomyelinating, 41 test
  • Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome6 tests
  • Leukoencephalopathy with dystonia and motor neuropathy4 tests
  • Leukoencephalopathy with vanishing white matter6 tests
  • Levy-Hollister syndrome1 test
  • Lewy body dementia1 test
  • Li-Fraumeni syndrome 117 tests
  • Li-Fraumeni syndrome 23 tests
  • Limb-girdle muscular dystrophy, type 2A3 tests
  • Limb-girdle muscular dystrophy-dystroglycanopathy, type C44 tests
  • Linear skin defects with multiple congenital anomalies 11 test
  • Lipodystrophy, congenital generalized, type 41 test
  • Lissencephaly 2, X-linked6 tests
  • Lissencephaly 31 test
  • Localized epidermolysis bullosa simplex1 test
  • Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency15 tests
  • Low phospholipid associated cholelithiasis5 tests
  • Lowe syndrome5 tests
  • Lung carcinoma12 tests
  • Lymphatic malformation 33 tests
  • Lymphedema, primary, with myelodysplasia4 tests
  • Lynch syndrome I25 tests
  • Lynch syndrome II6 tests
  • Lysinuric protein intolerance6 tests
  • Lysosomal acid lipase deficiency4 tests
  • Macrocephaly/autism syndrome13 tests
  • Macroglobulinemia, Waldenstrom, susceptibility to, 11 test
  • Macular degeneration, X-linked atrophic4 tests
  • Macular dystrophy, patterned, 15 tests
  • Macular dystrophy, vitelliform, adult-onset9 tests
  • Malignant tumor of esophagus2 tests
  • Malignant tumor of prostate18 tests
  • Malignant tumor of testis7 tests
  • Maple syrup urine disease12 tests
  • Maple syrup urine disease type 1A4 tests
  • Maple syrup urine disease type 1B4 tests
  • Maple syrup urine disease type 24 tests
  • Maple syrup urine disease, type 39 tests
  • Marfan syndrome7 tests
  • MASS syndrome5 tests
  • Mastocytosis1 test
  • Matthew-Wood syndrome1 test
  • Maturity-onset diabetes of the young type 61 test
  • Maturity-onset diabetes of the young, type 21 test
  • Maturity-onset diabetes of the young, type 31 test
  • McKusick-Kaufman syndrome3 tests
  • Meacham syndrome3 tests
  • Meckel syndrome type 13 tests
  • Meckel syndrome type 61 test
  • Meckel syndrome type 71 test
  • Meckel syndrome, type 31 test
  • Meckel syndrome, type 46 tests
  • Medium-chain acyl-coenzyme A dehydrogenase deficiency12 tests
  • Medulloblastoma14 tests
  • Meesmann corneal dystrophy 11 test
  • Megalencephalic leukoencephalopathy with subcortical cysts 15 tests
  • Melanoma and neural system tumor syndrome4 tests
  • Melanoma-pancreatic cancer syndrome6 tests
  • Melorheostosis5 tests
  • Meningioma, familial9 tests
  • Menkes kinky-hair syndrome6 tests
  • Mental retardation 17, X-linked6 tests
  • Mental retardation 3, X-linked3 tests
  • Mental retardation 63, X-linked1 test
  • Mental retardation, autosomal dominant 51 test
  • Mental retardation, autosomal recessive 75 tests
  • Mental retardation, with or without seizures, ARX-related, X-linked6 tests
  • Mental retardation, X-linked, syndromic 106 tests
  • Mental retardation, X-linked, syndromic 137 tests
  • Meretoja syndrome1 test
  • Mesothelioma, malignant3 tests
  • Metachondromatosis5 tests
  • Metachromatic leukodystrophy6 tests
  • Metaphyseal chondrodysplasia, McKusick type5 tests
  • Metaphyseal chondrodysplasia, Schmid type3 tests
  • Metaphyseal dysplasia without hypotrichosis3 tests
  • Methemoglobinemia type 41 test
  • Methylcobalamin deficiency type cblG8 tests
  • Methylmalonate semialdehyde dehydrogenase deficiency1 test
  • Methylmalonic acidemia with homocystinuria cblD9 tests
  • Methylmalonic aciduria and homocystinuria type cblF9 tests
  • Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency15 tests
  • Methylmalonic aciduria due to transcobalamin receptor defect5 tests
  • Methylmalonic aciduria, cblD type, variant 24 tests
  • Methylmalonyl-CoA epimerase deficiency6 tests
  • Microcephalic osteodysplastic dysplasia, Saul-Wilson type2 tests
  • Microcephaly with or without chorioretinopathy, lymphedema, or mental retardation3 tests
  • Microcephaly, normal intelligence and immunodeficiency10 tests
  • Microphthalmia, isolated 31 test
  • Microphthalmia, isolated 56 tests
  • Microphthalmia, isolated, with coloboma 51 test
  • Microphthalmia, isolated, with coloboma 71 test
  • Microvascular complications of diabetes 61 test
  • Microvascular complications of diabetes 71 test
  • Miller syndrome1 test
  • mitochondrial 3-hydroxy-3-methylglutaryl-CoA synthase deficiency4 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 deficiency16 tests
  • Mitochondrial diseases2 tests
  • Mitochondrial DNA depletion syndrome 1 (MNGIE type)8 tests
  • Mitochondrial DNA depletion syndrome 112 tests
  • Mitochondrial DNA depletion syndrome 12a (cardiomyopathic type), autosomal dominant1 test
  • Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)3 tests
  • Mitochondrial DNA depletion syndrome 27 tests
  • Mitochondrial DNA depletion syndrome 4B, MNGIE type9 tests
  • Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria)7 tests
  • Mitochondrial DNA depletion syndrome 9 (encephalomyopathic with methylmalonic aciduria)11 tests
  • Mitochondrial DNA depletion syndrome, encephalomyopathic form, with renal tubulopathy8 tests
  • Mitochondrial DNA-depletion syndrome 3, hepatocerebral7 tests
  • Mitochondrial phosphate carrier deficiency1 test
  • Mitochondrial trifunctional protein deficiency17 tests
  • Molybdenum cofactor deficiency, complementation group A1 test
  • Molybdenum cofactor deficiency, complementation group B5 tests
  • MORM syndrome1 test
  • MPDU1-CDG5 tests
  • MPI-CDG10 tests
  • Mucolipidosis type II3 tests
  • Mucolipidosis type IV9 tests
  • Mucopolysaccharidosis type 71 test
  • Mucopolysaccharidosis, MPS-I-H/S5 tests
  • Mucopolysaccharidosis, MPS-I-S5 tests
  • Mucopolysaccharidosis, MPS-II9 tests
  • Mucopolysaccharidosis, MPS-III-A6 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 17 tests
  • Multiple endocrine neoplasia, type 2a7 tests
  • Multiple endocrine neoplasia, type 2b4 tests
  • Multiple fibrofolliculomas5 tests
  • Multiple mitochondrial dysfunctions syndrome 11 test
  • Multiple mitochondrial dysfunctions syndrome 21 test
  • Multiple myeloma3 tests
  • Multiple sulfatase deficiency4 tests
  • Muscle eye brain disease3 tests
  • Mutilating keratoderma5 tests
  • Myasthenia, limb-girdle, familial3 tests
  • Myasthenic syndrome, congenital, 11, associated with acetylcholine receptor deficiency3 tests
  • Myasthenic syndrome, congenital, 4a, slow-channel3 tests
  • Myasthenic syndrome, congenital, 4b, fast-channel2 tests
  • Mycobacterial and viral infections, susceptibility to, autosomal recessive1 test
  • Myelodysplastic syndrome6 tests
  • MYH-associated polyposis7 tests
  • Myhre syndrome4 tests
  • Myoglobinuria, acute recurrent, autosomal recessive7 tests
  • Myopathy with lactic acidosis, hereditary6 tests
  • Myopathy, lactic acidosis, and sideroblastic anemia 16 tests
  • Myopathy, lactic acidosis, and sideroblastic anemia 26 tests
  • Myopathy, mitochondrial progressive, with congenital cataract, hearing loss, and developmental delay4 tests
  • Nail-patella syndrome7 tests
  • Namaqualand hip dysplasia6 tests
  • Nance-Horan syndrome1 test
  • Nanophthalmos 25 tests
  • Nasopharyngeal carcinoma17 tests
  • Navajo neurohepatopathy6 tests
  • Nemaline myopathy 24 tests
  • Neonatal intrahepatic cholestasis caused by citrin deficiency8 tests
  • Neoplasm of ovary4 tests
  • Neoplasm of stomach9 tests
  • Nephrolithiasis/osteoporosis, hypophosphatemic, 16 tests
  • Nephrolithiasis/osteoporosis, hypophosphatemic, 22 tests
  • Nephronophthisis 15 tests
  • Nephronophthisis 112 tests
  • Nephronophthisis 34 tests
  • Nephronophthisis 44 tests
  • Nephronophthisis-like nephropathy 11 test
  • Nephropathic cystinosis6 tests
  • Nephrotic syndrome, type 43 tests
  • Neural tube defects, folate-sensitive13 tests
  • Neuroblastoma1 test
  • Neuroblastoma 25 tests
  • Neuroblastoma 37 tests
  • Neurofibromatosis, type 11 test
  • Neurofibromatosis, type 26 tests
  • Neuronal ceroid lipofuscinosis 15 tests
  • Neuronal ceroid lipofuscinosis 101 test
  • Neuronal ceroid lipofuscinosis 36 tests
  • Neuronal ceroid lipofuscinosis 55 tests
  • Neuronal ceroid lipofuscinosis 65 tests
  • Neuronal ceroid lipofuscinosis 83 tests
  • Neurophysiologic defect in schizophrenia5 tests
  • Neutral 1 amino acid transport defect1 test
  • Neutral lipid storage myopathy1 test
  • Newfoundland rod-cone dystrophy5 tests
  • Niemann-Pick disease type C16 tests
  • Niemann-Pick disease, type A10 tests
  • Niemann-Pick disease, type B1 test
  • Niemann-Pick disease, type C23 tests
  • Nijmegen breakage syndrome-like disorder5 tests
  • Non-Hodgkin lymphoma5 tests
  • Non-ketotic hyperglycinemia10 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
  • Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia5 tests
  • Nuclearly-encoded mitochondrial complex V (ATP synthase) deficiency 15 tests
  • Nuclearly-encoded mitochondrial complex V (ATP synthase) deficiency 26 tests
  • Nuclearly-encoded mitochondrial complex V (ATP synthase) deficiency 36 tests
  • Nystagmus 6, congenital, X-linked7 tests
  • Obesity3 tests
  • Obsessive-compulsive disorder2 tests
  • Occult macular dystrophy1 test
  • Ocular albinism, type I6 tests
  • Ocular albinism, type II1 test
  • Ocular cystinosis3 tests
  • 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 disease5 tests
  • Oguchi disease 21 test
  • Opioid dependence 11 test
  • Optic atrophy 37 tests
  • Optic atrophy 71 test
  • Optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy6 tests
  • Optic nerve hypoplasia, bilateral1 test
  • Ornithine aminotransferase deficiency4 tests
  • Ornithine carbamoyltransferase deficiency8 tests
  • Orthostatic hypotension 11 test
  • Osteofibrous dysplasia2 tests
  • Osteogenesis imperfecta type 122 tests
  • Osteogenesis imperfecta type 2, thin-bone1 test
  • Osteogenesis imperfecta type 54 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, recessive perinatal lethal6 tests
  • Osteogenesis imperfecta, type III/IV1 test
  • Osteogenesis imperfecta, type VI2 tests
  • Osteogenesis imperfecta, type XI6 tests
  • Osteopathia striata with cranial sclerosis6 tests
  • Osteopetrosis with renal tubular acidosis6 tests
  • Osteopetrosis, autosomal recessive 51 test
  • Osteoporosis with pseudoglioma1 test
  • Otofaciocervical syndrome 11 test
  • Otospondylomegaepiphyseal dysplasia, autosomal recessive6 tests
  • Oxoglutaricaciduria1 test
  • Paget disease of bone 2, early-onset2 tests
  • Palmoplantar keratoderma-deafness syndrome5 tests
  • Pancreatic cancer 210 tests
  • Pancreatic cancer 38 tests
  • Pancreatic cancer 49 tests
  • Panic disorder 11 test
  • Papillary thyroid carcinoma1 test
  • Paragangliomas 14 tests
  • Paragangliomas 25 tests
  • Paragangliomas 37 tests
  • Paragangliomas 48 tests
  • Paragangliomas 57 tests
  • Parathyroid carcinoma2 tests
  • Parkinson disease 131 test
  • Parkinson disease 6, autosomal recessive early-onset1 test
  • Parkinson disease 71 test
  • Paroxysmal non-kinesigenic dyskinesia1 test
  • Partial androgen insensitivity syndrome4 tests
  • Partial hypoxanthine-guanine phosphoribosyltransferase deficiency4 tests
  • Partington syndrome6 tests
  • Pelizaeus-Merzbacher disease6 tests
  • Pendred syndrome6 tests
  • Permanent neonatal diabetes mellitus1 test
  • Peroxisomal acyl-CoA oxidase deficiency4 tests
  • Peroxisome biogenesis disorder 10A3 tests
  • Peroxisome biogenesis disorder 11A5 tests
  • Peroxisome biogenesis disorder 12A3 tests
  • Peroxisome biogenesis disorder 13A1 test
  • Peroxisome biogenesis disorder 14B3 tests
  • Peroxisome biogenesis disorder 1A (Zellweger)5 tests
  • Peroxisome biogenesis disorder 2A (Zellweger)3 tests
  • Peroxisome biogenesis disorder 3A2 tests
  • Peroxisome biogenesis disorder 4a (zellweger)2 tests
  • Peroxisome biogenesis disorder 5a (zellweger)5 tests
  • Peroxisome biogenesis disorder 5B2 tests
  • Peroxisome biogenesis disorder 6A3 tests
  • Peroxisome biogenesis disorder 7A3 tests
  • Peroxisome biogenesis disorder 8A1 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
  • Peutz-Jeghers syndrome9 tests
  • Pfeiffer syndrome1 test
  • Phenylketonuria11 tests
  • Pheochromocytoma22 tests
  • Phosphate transport defect5 tests
  • Phosphoenolpyruvate carboxykinase deficiency, cytosolic3 tests
  • Phosphoenolpyruvate carboxykinase deficiency, mitochondrial4 tests
  • Phosphoglycerate dehydrogenase deficiency5 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 chorioretinal atrophy6 tests
  • Pili torti-deafness syndrome5 tests
  • Pilomatrixoma7 tests
  • Pituitary hormone deficiency, combined 25 tests
  • Pituitary hormone deficiency, combined 62 tests
  • Platyspondylic dysplasia, Torrance type6 tests
  • Pneumothorax, primary spontaneous2 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
  • Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract6 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
  • 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 hyperoxaluria, type I6 tests
  • Primary hyperoxaluria, type II5 tests
  • Primary open angle glaucoma2 tests
  • Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 110 tests
  • Progressive familial intrahepatic cholestasis5 tests
  • Progressive familial intrahepatic cholestasis 25 tests
  • Progressive familial intrahepatic cholestasis 36 tests
  • Progressive sclerosing poliodystrophy10 tests
  • Proline dehydrogenase deficiency1 test
  • Proopiomelanocortin deficiency2 tests
  • Propionic acidemia21 tests
  • Proprotein convertase 1/3 deficiency2 tests
  • Protan defect1 test
  • Prothrombin deficiency, congenital2 tests
  • Protoporphyria, erythropoietic, 11 test
  • Protoporphyria, erythropoietic, X-linked1 test
  • Pseudo-Hurler polydystrophy1 test
  • Purine-nucleoside phosphorylase deficiency4 tests
  • Pyknodysostosis9 tests
  • Pyridoxine-dependent epilepsy5 tests
  • Pyruvate carboxylase deficiency11 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-binding protein deficiency6 tests
  • Pyruvate dehydrogenase lipoic acid synthetase deficiency1 test
  • Pyruvate dehydrogenase phosphatase deficiency7 tests
  • RAS-associated autoimmune leukoproliferative disorder3 tests
  • Reis-Bucklers' corneal dystrophy1 test
  • Renal carnitine transport defect10 tests
  • Renal cell carcinoma, nonpapillary13 tests
  • Renal cell carcinoma, papillary, 15 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 155 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 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 5910 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
  • Rheumatoid arthritis1 test
  • Rhizomelic chondrodysplasia punctata type 12 tests
  • 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 disease5 tests
  • Sandhoff disease5 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, idiopathic 36 tests
  • Sengers syndrome1 test
  • Senior-Loken syndrome 41 test
  • Senior-Loken syndrome 57 tests
  • Senior-Loken syndrome 66 tests
  • Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis9 tests
  • Septo-optic dysplasia sequence1 test
  • Severe autosomal recessive muscular dystrophy of childhood - North African type3 tests
  • Severe combined immunodeficiency due to ADA deficiency8 tests
  • Severe combined immunodeficiency due to DCLRE1C deficiency6 tests
  • Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive6 tests
  • Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-negative3 tests
  • Severe neonatal-onset encephalopathy with microcephaly7 tests
  • Sex-linked hereditary disorder1 test
  • Shaheen syndrome2 tests
  • Shprintzen syndrome2 tests
  • Shprintzen-Goldberg syndrome5 tests
  • Shwachman-Diamond syndrome 15 tests
  • Sialuria2 tests
  • Simpson-Golabi-Behmel syndrome type 15 tests
  • Sjögren-Larsson syndrome6 tests
  • Skin fragility-woolly hair-palmoplantar keratoderma syndrome1 test
  • Skin/hair/eye pigmentation, variation in, 16 tests
  • Skin/hair/eye pigmentation, variation in, 114 tests
  • Skin/hair/eye pigmentation, variation in, 21 test
  • Skin/hair/eye pigmentation, variation in, 34 tests
  • Skin/hair/eye pigmentation, variation in, 54 tests
  • SLC35A2-CDG3 tests
  • Small cell lung carcinoma1 test
  • Smith-Lemli-Opitz syndrome8 tests
  • Smith-Magenis syndrome3 tests
  • Snowflake vitreoretinal degeneration2 tests
  • Solid tumor2 tests
  • Solitary median maxillary central incisor syndrome1 test
  • Sorsby fundus dystrophy1 test
  • Sotos syndrome 11 test
  • Spastic ataxia 5, autosomal recessive1 test
  • Spastic paraplegia 31, autosomal dominant1 test
  • Spastic paraplegia 44, autosomal recessive3 tests
  • Spastic paraplegia 55, autosomal recessive1 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
  • Spondylocheirodysplasia, Ehlers-Danlos syndrome-like7 tests
  • Spondyloepiphyseal dysplasia congenita6 tests
  • Spondylometaphyseal dysplasia1 test
  • Spondyloperipheral dysplasia-short ulna syndrome1 test
  • Spongy degeneration of central nervous system9 tests
  • Squamous cell carcinoma of the head and neck13 tests
  • Stargardt disease 17 tests
  • Stargardt Disease 31 test
  • Stargardt disease 45 tests
  • Steinert myotonic dystrophy syndrome2 tests
  • Stickler syndrome type 11 test
  • Stiff skin syndrome5 tests
  • Striatal necrosis, bilateral, and progressive polyneuropathy1 test
  • Succinate-semialdehyde dehydrogenase deficiency7 tests
  • Succinyl-CoA acetoacetate transferase deficiency1 test
  • Supravalvar aortic stenosis1 test
  • Sveinsson chorioretinal atrophy1 test
  • Syndactyly-telecanthus-anogenital and renal malformations syndrome1 test
  • Syndromic microphthalmia type 52 tests
  • Syndromic X-linked intellectual disability Lubs type8 tests
  • Synovial sarcoma1 test
  • Tay-Sachs disease13 tests
  • Tay-Sachs disease, variant AB1 test
  • Tetralogy of Fallot5 tests
  • Thanatophoric dysplasia type 12 tests
  • Thanatophoric dysplasia, type 22 tests
  • Thiel-Behnke corneal dystrophy1 test
  • Thrombocytopenia 21 test
  • Thrombocytopenia 41 test
  • Thrombocytosis, benign familial microcytic3 tests
  • Thrombophilia due to factor V Leiden2 tests
  • Thrombophilia, hereditary, due to protein C deficiency, autosomal dominant6 tests
  • Thrombophilia, hereditary, due to protein C deficiency, autosomal recessive6 tests
  • Thyroid cancer, nonmedullary, 29 tests
  • Thyroid hormone metabolism, abnormal1 test
  • Transcolabamin II deficiency9 tests
  • Transferrin serum level quantitative trait locus 21 test
  • Triglyceride storage disease with ichthyosis1 test
  • Tuberous sclerosis 11 test
  • Tuberous sclerosis 21 test
  • Turcot syndrome6 tests
  • Type 2 diabetes mellitus2 tests
  • Tyrosinase-positive oculocutaneous albinism6 tests
  • Tyrosinemia type 35 tests
  • Tyrosinemia type I13 tests
  • Tyrosinemia type II7 tests
  • UDPglucose-4-epimerase deficiency6 tests
  • Uridine 5-prime monophosphate hydrolase deficiency, hemolytic anemia due to1 test
  • Urinary bladder cancer5 tests
  • Usher syndrome type 13 tests
  • Usher syndrome type 1D13 tests
  • Usher syndrome type 1F7 tests
  • Usher syndrome, type 1C9 tests
  • Usher syndrome, type 1G1 test
  • Usher syndrome, type 2A7 tests
  • Usher syndrome, type 2C6 tests
  • Usher syndrome, type 2D5 tests
  • Usher syndrome, type 3B1 test
  • Usher Syndrome, Type III9 tests
  • VACTERL association with hydrocephalus13 tests
  • Van Buchem disease type 21 test
  • Variegate porphyria2 tests
  • Very long chain acyl-CoA dehydrogenase deficiency15 tests
  • Vitamin B12-responsive methylmalonic acidemia type cblA11 tests
  • Vitamin B12-responsive methylmalonic acidemia type cblB11 tests
  • Vitamin D-dependent rickets type II with alopecia2 tests
  • Vitamin D-dependent rickets, type 11 test
  • Vitelliform macular dystrophy type 26 tests
  • Vitreoretinochoroidopathy5 tests
  • Von Hippel-Lindau syndrome13 tests
  • Weill-Marchesani syndrome 25 tests
  • Werdnig-Hoffmann disease9 tests
  • Wilms tumor 114 tests
  • Wilson disease11 tests
  • Wilson-Turner X-linked mental retardation syndrome1 test
  • Wiskott-Aldrich syndrome2 tests
  • Wolfram syndrome1 test
  • Wolfram syndrome 21 test
  • Wolfram-like syndrome, autosomal dominant1 test
  • Worth disease1 test
  • Wrinkly skin syndrome5 tests
  • X-linked agammaglobulinemia1 test
  • X-linked cone-rod dystrophy 31 test
  • X-linked ichthyosis with steryl-sulfatase deficiency1 test
  • X-linked severe combined immunodeficiency4 tests
  • X-linked sideroblastic anemia with ataxia1 test
  • Zonular pulverulent cataract 31 test

List of services

  • Clinical Testing/Confirmation of Mutations Identified Previously
  • Custom Deletion/Duplication Testing
  • Prenatal testing
  • Custom Sequence Analysis
  • Custom microarray analysis
  • Genetic counseling
  • Insurance appeals support
  • Insurance billing
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List of certifications/licenses

Certifications

  • CLIAHelp, Number: 45D0660090, Expiration date: 2023-02-27
  • CAP, Number: 2109314, Expiration date: 2022-04-15

Licenses

  • CA - California Department of Public Health CDPH, Number: COS800035, Expiration date: 2022-02-01
  • 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, Expiration date: 2022-06-30
  • PA - Pennsylvania Department of Health PADOH, Number: 27174A, Expiration date: 2021-08-15
  • RI - State of Rhode Island Department of Health RIDOH, Number: LCO00545, Expiration date: 2022-12-30

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.

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