Newborn Screening - Parent Resources

Newborn Screening - Parent Resources

Newborn Screening Brochure

English version

Spanish version

 

 

Disorders Currently Screened For

2-Methyl-3-hydroxybutyric aciduria (2M3HBA)
2-Methylbutyryl-CoA dehydrogenase deficiency (2MBDH)
3-Methylocrotonyl-CoA carboxylase deficiency (3MCC)
3-Methylglutaconic aciduria (3MGA)
Argininemia (ARG)
Argininosuccinic Acidemia (ASA)
Biotinidase Deficiency (BIO)
Beta-ketothiolase deficiency (BKT)
Carnitine Acylcarnitine Translocase Deficiency (CACT)
Congenital Adrenal Hyperplasia (CAH)
Methylmalonic Acidemia (CBL A-B)
Methylmalonic Acidemia (CBL C-D)
Critical Congenital Heart Disease (CCHD)
Cystic Fibrosis (CF)
Congenital Hypothyroidism (CH)
Citrullinemia Type I (CIT)
Citrullinemia Type II (CIT-II)
Carnitine Palmitoyl Transferase deficiency, Type I (CPT-I)
Carnitine Palmitoyl Transferase deficiency, Type II (CPT-II)
Carnitine uptake deficiency (CUD)
Ethylmalonic Encephalopathy (EE)
Glutaric acidemia type I (GA-I)
Glutaric acidemia type II (GA-II)
Galactosemia (GALT)
Homocystinuria (HCY)
Methylglutaric Aciduria (HMG)
Hyperphenylalaninemia (H-PHE)
Isobutyryl-CoA Dehydrogenase Deficiency (IBD)
Isovaleric Acidemia (IVA)
Krabbe
Long Chain 3-hydroxyacyl-CoA dehydrogenase deficiency (LCHAD)
Malonic Acidemia (MAL)
Medium chain acyl-CoA dehydrogenase deficiency (MCAD)
Multiple carboxylase deficiency (MCD)
Hypermethioninemia (MET)
Mucopolysaccharidosis Type I (MPS-I)
Maple Syrup Urine Disease (MSUD)
Methylmalonic acidemia mutase deficiency (MUT)
Non-ketotoc Hyperlycinemia (NKHG)
Ornithine Transcarbamylase deficiency (OTC)
Propionic Acidemia (PA)
Phenylketonuria (PKU)
Pompe
Short-chain acyl-CoA dehydrogenase deficiency (SCAD)
Severe combined immunodeficiency (SCID)
Sickle Cell Trait
Sickle Cell Disease (HG SS)
Sickle Cell Hemoglobin C Disease (HG SC)
Sickle Cell S Beta Thalassemia (HB S-Th)
Sickle Cell Various Hemoglobinopathies
Trifunctional Protein Deficiency (TFP)
Tyrosinemia type I (TYR-I)
Tyrosinemia type II (TYR-II)
Tyrosinemia type III (TYR-III)
Very long-chain acyl-CoA deficiency (VLCAD)
X-Adrenoleukodystrophy (X-ALD)

​If you have additional questions contact:
Newborn Screening Follow-up Program
(502) 564-3756 option 3

Contact Information