- Condition or genotype
- Spinal Muscular Atrophy; Fragile X Syndrome; Fragile X - Premutation; Duchenne Muscular Dystrophy; Hyperinsulinemic Hypoglycemia, Familial 1; Diabetes Mellitus; Adrenoleukodystrophy, Neonatal; Medium-chain Acyl-CoA Dehydrogenase Deficiency; Very Long Chain Acyl Coa Dehydrogenase Deficiency; Beta-ketothiolase Deficiency; Severe Combined Immunodeficiency Due to Adenosine Deaminase Deficiency; Primary Hyperoxaluria Type 1; Congenital Bile Acid Synthesis Defect Type 2; Pyridoxine-Dependent Epilepsy; Hereditary Fructose Intolerance; Hypophosphatasia; Hyperargininemia; Mucopolysaccharidosis Type 6; Argininosuccinic Aciduria; Citrullinemia, Type I; Wilson Disease; Maple Syrup Urine Disease, Type 1A; Maple Syrup Urine Disease, Type 1B; Biotinidase Deficiency; Neonatal Severe Primary Hyperparathyroidism; Intrinsic Factor Deficiency; Usher Syndrome Type 1D/F Digenic (Diagnosis); Cystic Fibrosis; Stickler Syndrome Type 2; Stickler Syndrome Type 1; Alport Syndrome, Autosomal Recessive; Alport Syndrome, X-Linked; Carbamoyl Phosphate Synthetase I Deficiency Disease; Carnitine Palmitoyl Transferase 1A Deficiency; Carnitine Palmitoyltransferase II Deficiency; Cystinosis; Chronic Granulomatous Disease; Cerebrotendinous Xanthomatoses; Maple Syrup Urine Disease, Type 2; Severe Combined Immunodeficiency Due to DCLRE1C Deficiency; Thyroid Dyshormonogenesis 6; Thyroid Dyshormonogenesis 5; Supravalvar Aortic Stenosis; Factor X Deficiency; Hemophilia A; Hemophilia B; Tyrosinemia, Type I; Fructose 1,6 Bisphosphatase Deficiency; Glycogen Storage Disease Type I; G6PD Deficiency; Glycogen Storage Disease II; Galactokinase Deficiency; Mucopolysaccharidosis Type IV A; Galactosemias; Guanidinoacetate Methyltransferase Deficiency; Agat Deficiency; Glutaryl-CoA Dehydrogenase Deficiency; Gtp Cyclohydrolase I Deficiency; Hyperinsulinism-Hyperammonemia Syndrome; Primary Hyperoxaluria Type 2; 3-Hydroxyacyl-CoA Dehydrogenase Deficiency; Long-chain 3-hydroxyacyl-CoA Dehydrogenase Deficiency; Mitochondrial Trifunctional Protein Deficiency; Sickle Cell Disease; Beta-Thalassemia; Holocarboxylase Synthetase Deficiency; 3-Hydroxy-3-Methylglutaric Aciduria; Primary Hyperoxaluria Type 3; Hermansky-Pudlak Syndrome 1; Hermansky-Pudlak Syndrome 4; Apparent Mineralocorticoid Excess; HSDB; CBAS1; Mucopolysaccharidosis Type 2; Mucopolysaccharidosis Type 1; Severe Combined Immunodeficiency, X Linked; Severe Combined Immunodeficiency Due to IL-7Ralpha Deficiency; Diabetes Mellitus, Permanent Neonatal; Isovaleric Acidemia; Severe Combined Immunodeficiency T-Cell Negative B-Cell Positive Due to Janus Kinase-3 Deficiency (Disorder); Jervell and Lange-Nielsen Syndrome 2; Hyperinsulinemic Hypoglycemia, Familial, 2; Diabetes Mellitus, Permanent Neonatal, With Neurologic Features; Jervell and Lange-Nielsen Syndrome 1; Lysosomal Acid Lipase Deficiency; CblF; 3-Methylcrotonyl CoA Carboxylase 1 Deficiency; 3-Methylcrotonyl CoA Carboxylase 2 Deficiency; Waardenburg Syndrome Type 2A; Methylmalonic Aciduria cblA Type; Methylmalonic Aciduria cblB Type; Methylmalonic Aciduria and Homocystinuria Type cblC; MAHCD; Methylmalonic Aciduria Due to Methylmalonyl-CoA Mutase Deficiency; Congenital Disorder of Glycosylation Type 1B; Mthfr Deficiency; Methylcobalamin Deficiency Type Cbl G (Disorder); Methylcobalamin Deficiency Type cblE; Usher Syndrome, Type 1B; N-acetylglutamate Synthase Deficiency; Ornithine Transcarbamylase Deficiency; Phenylketonurias; Waardenburg Syndrome Type 1; Congenital Hypothyroidism; Propionic Acidemia; Usher Syndrome, Type 1F; Pancreatic Agenesis 1; Hereditary Hypophosphatemic Rickets; Glycogen Storage Disease IXB; Glycogen Storage Disease IXC; MOWS; Epilepsy, Early-Onset, Vitamin B6-Dependent; Pyridoxal Phosphate-Responsive Seizures; Pituitary Hormone Deficiency, Combined, 1; Ptsd; Dihydropteridine Reductase Deficiency; Severe Combined Immunodeficiency Due to RAG1 Deficiency; Severe Combined Immunodeficiency Due to RAG2 Deficiency; Retinoblastoma; Multiple Endocrine Neoplasia Type 2B; Pseudohypoaldosteronism, Type I; Liddle Syndrome; Biotin-Responsive Basal Ganglia Disease; SCD; DIAR1; GSD1C; Acrodermatitis Enteropathica; Thyroid Dyshormonogenesis 1; Riboflavin Transporter Deficiency; Waardenburg Syndrome, Type 2E; SRD; Congenital Lipoid Adrenal Hyperplasia Due to STAR Deficiency; Barth Syndrome; Adrenocorticotropic Hormone Deficiency; Transcobalamin II Deficiency; Thyroid Dyshormonogenesis 3; Segawa Syndrome, Autosomal Recessive; Autosomal Recessive Nonsyndromic Hearing Loss; Thyroid Dyshormonogenesis 2A; Congenital Isolated Thyroid Stimulating Hormone Deficiency; Hypothyroidism Due to TSH Receptor Mutations; Usher Syndrome Type 1C; Usher Syndrome Type 1G (Diagnosis); Von Willebrand Disease, Type 3; Combined Immunodeficiency Due to ZAP70 Deficiency; Adenine Phosphoribosyltransferase Deficiency; Metachromatic Leukodystrophy; Canavan Disease; Menkes Disease; Carbonic Anhydrase VA Deficiency; Developmental and Epileptic Encephalopathy 2; 17 Alpha-Hydroxylase Deficiency; Smith-Lemli-Opitz Syndrome; Krabbe Disease; Glutathione Synthetase Deficiency; Mucopolysaccharidosis Type 7; Rett Syndrome; Molybdenum Cofactor Deficiency, Type A; Niemann-Pick Disease, Type C1; Niemann-Pick Disease Type C2; Ornithine Aminotransferase Deficiency; 3-Phosphoglycerate Dehydrogenase Deficiency; Leber Congenital Amaurosis 2; Dravet Syndrome; Mucopolysaccharidosis Type 3 A; Ornithine Translocase Deficiency; Carnitine-acylcarnitine Translocase Deficiency; Glucose Transporter Type 1 Deficiency Syndrome; Creatine Transporter Deficiency; Niemann-Pick Disease Type A; Pitt Hopkins Syndrome; Tuberous Sclerosis 1; Tuberous Sclerosis 2; Ataxia With Isolated Vitamin E Deficiency; Angelman Syndrome; Prader-Willi Syndrome; Homocystinuria; Permanent Neonatal Diabetes Mellitus; Transient Neonatal Diabetes Mellitus; Factor VII Deficiency; Glycogen Storage Disease Type IXA1; Glycogen Storage Disease, Type IXA2; Glycogen Storage Disease IC; Glycogen Storage Disease Type IB; Central Hypoventilation Syndrome With or Without Hirschsprung Disease
- Age
- 1 Day to 31 Days
- Location
- Research Triangle Park, North Carolina, United States
- Sponsor
- RTI International
- Last verified
- 2026-07-20
