Early Check: Expanded Screening in Newborns

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

Sponsor

RTI International

Collaborators

• [object Object]
• [object Object]
• [object Object]
• [object Object]
• [object Object]
• [object Object]
• [object Object]
• [object Object]
• [object Object]
• [object Object]
• [object Object]
• [object Object]
• [object Object]
• [object Object]
• [object Object]
• [object Object]
• [object Object]