Newborn screening study aims to catch rare diseases at birth

3-hydroxy-3-methylglutaric aciduria 3-hydroxyacyl-CoA dehydrogenase deficiency 3-methylcrotonyl-CoA carboxylase 1 deficiency 3-methylcrotonyl-CoA carboxylase 2 deficiency 3-phosphoglycerate dehydrogenase deficiency acrodermatitis enteropathica adenine phosphoribosyltransferase deficiency Adrenal hyperplasia, congenital, type 5 AGAT deficiency Angelman syndrome Aortic Stenosis, Supravalvular apparent mineralocorticoid excess arginase deficiency argininosuccinic aciduria autosomal recessive Alport syndrome autosomal recessive nonsyndromic hearing loss 5 Barth syndrome beta thalassemia beta-ketothiolase deficiency biotin-responsive basal ganglia disease biotinidase deficiency Canavan disease carbamoyl phosphate synthetase I deficiency disease carnitine palmitoyl transferase 1A deficiency carnitine palmitoyltransferase II deficiency carnitine-acylcarnitine translocase deficiency central hypoventilation syndrome, congenital, 1, with or without Hirschsprung disease cerebrotendinous xanthomatosis chronic granulomatous disease citrullinemia citrullinemia type I combined immunodeficiency due to ZAP70 deficiency congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency congenital bile acid synthesis defect 1 congenital bile acid synthesis defect 2 Congenital Hyperinsulinism congenital hypothyroidism congenital isolated adrenocorticotropic hormone deficiency congenital lipoid adrenal hyperplasia due to STAR deficency congenital secretory chloride diarrhea 1 creatine transporter deficiency cystic fibrosis cystinosis developmental and epileptic encephalopathy, 2 diabetes mellitus Diabetes Mellitus, Permanent Neonatal, With Neurologic Features dihydropteridine reductase deficiency disease dopa-responsive dystonia due to sepiapterin reductase deficiency Dravet syndrome Duchenne muscular dystrophy encephalopathy due to GLUT1 deficiency Epilepsies, Myoclonic epilepsy epilepsy, early-onset, vitamin B6-dependent factor VII deficiency factor X deficiency familial isolated deficiency of vitamin E familial thyroid dyshormonogenesis fragile X syndrome Fructose Intolerance fructose-1,6-bisphosphatase deficiency Fructose-1,6-Diphosphatase Deficiency G6PD deficiency galactokinase deficiency galactosemia glutaryl-CoA dehydrogenase deficiency glutathione synthetase deficiency with 5-oxoprolinuria glycogen storage disease I glycogen storage disease Ib Glycogen Storage Disease IC glycogen storage disease II glycogen storage disease IXa1 glycogen storage disease IXa2 glycogen storage disease IXb glycogen storage disease IXc Glycogen Storage Disease Type II Glycogen Storage Disease, Type IXA2 GTP cyclohydrolase I deficiency guanidinoacetate methyltransferase deficiency hearing loss, autosomal recessive hemophilia A hemophilia B hereditary fructose intolerance hereditary hypophosphatemic rickets hereditary intrinsic factor deficiency hereditary nephritis Hermansky-Pudlak syndrome Hermansky-Pudlak syndrome 1 Hermansky-Pudlak syndrome 4 holocarboxylase synthetase deficiency homocystinuria homocystinuria due to methylene tetrahydrofolate reductase deficiency hyperammonemia due to N-acetylglutamate synthase deficiency hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency hyperinsulinemic hypoglycemia, familial, 1 hyperinsulinemic hypoglycemia, familial, 2 hyperinsulinism-hyperammonemia syndrome Hyperphenylalaninemia, BH4-Deficient, B hypophosphatasia hypothyroidism due to TSH receptor mutations inherited glutathione synthetase deficiency isolated thyroid-stimulating hormone deficiency isovaleric acidemia Jervell and Lange-Nielsen syndrome Jervell and Lange-Nielsen syndrome 1 Jervell and Lange-Nielsen syndrome 2 Krabbe disease Leber congenital amaurosis 2 Liddle syndrome long chain 3-hydroxyacyl-CoA dehydrogenase deficiency lysosomal acid lipase deficiency maple syrup urine disease type 1A maple syrup urine disease type 1B maple syrup urine disease type 2 Maple syrup urine disease, type 1A Maple syrup urine disease, type 1B Maple syrup urine disease, type 2 maturity-onset diabetes of the young type 4 medium chain acyl-CoA dehydrogenase deficiency Menkes disease metachromatic leukodystrophy methylcobalamin deficiency type cblE methylcobalamin deficiency type cblG methylmalonic aciduria and homocystinuria methylmalonic aciduria and homocystinuria type cblC methylmalonic aciduria and homocystinuria type cblD Methylmalonic aciduria cblA type Methylmalonic aciduria cblB type methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency methylmalonic aciduria, cblA type methylmalonic aciduria, cblB type mitochondrial trifunctional protein deficiency Mowat-Wilson syndrome MPI-congenital disorder of glycosylation Mucopolysaccharidosis I Mucopolysaccharidosis III Mucopolysaccharidosis IV mucopolysaccharidosis type 1 mucopolysaccharidosis type 2 mucopolysaccharidosis type 3 mucopolysaccharidosis type 3A mucopolysaccharidosis type 4A mucopolysaccharidosis type 6 mucopolysaccharidosis type 7 multiple endocrine neoplasia type 2B neonatal severe primary hyperparathyroidism Niemann-Pick disease type A Niemann-Pick disease type C Niemann-Pick disease, type C1 Niemann-Pick disease, type C2 ornithine aminotransferase deficiency ornithine carbamoyltransferase deficiency ornithine translocase deficiency pancreatic agenesis 1 permanent neonatal diabetes mellitus pernicious anemia Peroxisomal Disorders peroxisome biogenesis disorder 1B phenylketonuria Pitt-Hopkins syndrome pituitary hormone deficiency, combined, 1 post-traumatic stress disorder Prader-Willi syndrome primary hyperoxaluria type 1 primary hyperoxaluria type 2 primary hyperoxaluria type 3 propionic acidemia pseudohypoaldosteronism pseudohypoaldosteronism type 1 pyridoxal phosphate-responsive seizures pyridoxine-dependent epilepsy retinoblastoma Rett syndrome riboflavin transporter deficiency severe combined immunodeficiency due to DCLRE1C deficiency severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive sickle cell disease Smith-Lemli-Opitz syndrome spinal muscular atrophy spondylocostal dysostosis Stickler syndrome type 1 Stickler syndrome type 2 sulfite oxidase deficiency due to molybdenum cofactor deficiency type A supravalvular aortic stenosis T-B+ severe combined immunodeficiency due to gamma chain deficiency T-B+ severe combined immunodeficiency due to IL-7Ralpha deficiency T-B+ severe combined immunodeficiency due to JAK3 deficiency TH-deficient dopa-responsive dystonia thyroid dyshormonogenesis 1 thyroid dyshormonogenesis 2A thyroid dyshormonogenesis 3 thyroid dyshormonogenesis 5 thyroid dyshormonogenesis 6 transcobalamin II deficiency transient neonatal diabetes mellitus tuberous sclerosis 1 tuberous sclerosis 2 tyrosine hydroxylase deficiency tyrosinemia tyrosinemia type I Usher syndrome type 1B Usher syndrome type 1C Usher syndrome type 1D Usher syndrome type 1F Usher syndrome type 1G Usher syndrome, type 1C Usher syndrome, type 1F very long chain acyl-CoA dehydrogenase deficiency VLCAD deficiency von Willebrand disease 3 Waardenburg syndrome Waardenburg syndrome type 1 Waardenburg syndrome type 2 Waardenburg syndrome type 2A Waardenburg syndrome type 2E Wilson disease Wolman disease X-linked Alport syndrome X-Linked Combined Immunodeficiency Diseases X-linked hypophosphatemic rickets