Clinical trial: Early Check: Expanded Screening in Newborns
Status: ENROLLING_BY_INVITATION
Conditions: 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
Interventions: DIAGNOSTIC_TEST: Confirmatory Testing
Study Type: OBSERVATIONAL
Study Design: Observational Model: |Time Perspective: p