healthscreening

Genetic Conditions Screened in Newborns

As part of the health assessment of newborn babies, a test for common genetic conditions is done by drawing a few drops of blood from the heel of the baby and sending this off for analysis. Any positive results will then be followed up by confirmatory test and a treatment can be initiated if required. The conditions are mostly life-threatening or disabling for the child if undiagnosed or left untreated.Below is a list of conditions that are screened as part of the current standard panel of core conditions and secondary conditions in the US-american health system. Secondary conditions are results that will be additionally (unintentionally) revealed when testing for the core conditions. If desired there are even more options for testing (supplemental screening). What test are offered or paid for depends on the state and the insurance. This information is taken from babysfirsttest.org.

1. Metabolic Disorders

ORGANIC ACID CONDITIONS

  • 2-Methyl-3-Hydroxybutyric Acidemia (2M3HBA)
  • 2-Methylbutyrylglycinuria (2MBG)
  • 3-Hydroxy-3-Methylglutaric Aciduria (HMG) *
  • 3-Methylcrotonyl-CoA Carboxylase Deficiency (3-MCC) *
  • 3-Methylglutaconic Aciduria (3MGA)
  • Beta-Ketothiolase Deficiency (BKT) *
  • Ethylmalonic Encephalopathy (EME)
  • Glutaric Acidemia, Type I (GA-1) *
  • Holocarboxylase Synthetase Deficiency (MCD)
  • Isobutyrylglycinuria (IBG)
  • Isovaleric Acidemia (IVA) *
  • Malonic Acidemia (MAL)
  • Methylmalonic Acidemia (Cobalamin Disorders) (Cbl A,B) *
  • Methylmalonic Acidemia (Methymalonyl-CoA Mutase Deficiency) (MUT) *
  • Methylmalonic Acidemia with Homocystinuria (Cbl C, D, F)
  • Propionic Acidemia (PROP) *

FATTY ACID OXIDATION DISORDERS

  • 2,4 Dienoyl-CoA Reductase Deficiency (DE RED)
  • Carnitine Acylcarnitine Translocase Deficiency (CACT)
  • Carnitine Palmitoyltransferase I Deficiency (CPT-IA)
  • Carnitine Palmitoyltransferase Type II Deficiency (CPT-II)
  • Carnitine Uptake Defect (CUD) *
  • Glutaric Acidemia, Type II (GA-2)
  • Long-Chain L-3 Hydroxyacyl-CoA Dehydrogenase Deficiency (LCHAD) *
  • Medium-Chain Acyl-CoA Dehydrogenase Deficiency (MCAD) *
  • Medium-Chain Ketoacyl-CoA Thiolase Deficiency (MCAT)
  • Medium/Short-Chain L-3 Hydroxyacyl-CoA Dehydrogenase Deficiency (M/SCHAD)
  • Short-Chain Acyl-CoA Dehydrogenase Deficiency (SCAD)
  • Trifunctional Protein Deficiency (TFP) *
  • Very Long-Chain Acyl-CoA Dehydrogenase Deficiency (VLCAD) *

AMINO ACID DISORDERS

  • Argininemia (ARG)
  • Argininosuccinic Aciduria (ASA) *
  • Benign Hyperphenylalaninemia (H-PHE)
  • Biopterin Defect in Cofactor Biosynthesis (BIOPT-BS)
  • Biopterin Defect in Cofactor Regeneration (BIOPT-REG)
  • Carbamoyl Phosphate Synthetase I Deficiency (CPS)
  • Citrullinemia, Type I (CIT) *
  • Citrullinemia, Type II (CIT II)
  • Classic Phenylketonuria (PKU) *
  • Homocystinuria (HCY) *
  • Hypermethioninemia (MET)
  • Hyperornithine with Gyrate Deficiency (Hyper ORN)
  • Maple Syrup Urine Disease (MSUD) *
  • Nonketotic Hyperglycinemia (NKH)
  • Ornithine Transcarbamylase Deficiency (OTC)
  • Prolinemia (PRO)
  • Tyrosinemia, Type I (TYR I) *
  • Tyrosinemia, Type II (TYR II)
  • Tyrosinemia, Type III (TYR III)

 

2. Endocrine Disorders

  • Congenital Adrenal Hyperplasia (CAH) *
  • Primary Congenital Hypothyroidism (CH) *

 

3. Hemoglobin Disorders

  • Glucose-6-Phosphate Dehydrogenase Deficiency (G6PD)
  • Hemoglobinopathies (Var Hb)
  • S, Beta-Thalassemia (Hb S/ßTh) *
  • S, C Disease (Hb S/C) *
  • Sickle Cell Anemia (Hb SS) *

 

4. Other Disorders

  • Adrenoleukodys-trophy (ALD)
  • Biotinidase Deficiency (BIOT) *
  • Classic Galactosemia (GALT) *
  • Congenital Toxoplasmosis (TOXO)
  • Critical Congenital Heart Disease (CCHD) *
  • Cystic Fibrosis (CF) *
  • Formiminoglutamic Acidemia (FIGLU)
  • Galactoepimerase Deficiency (GALE)
  • Galactokinase Deficiency (GALK)
  • Hearing loss (HEAR)
  • Human Immunodeficiency Virus (HIV)
  • Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome (HHH)
  • Pyroglutamic Acidemia (5-OXO)
  • Severe Combined Immunodeficiency (SCID) *
  • T-cell Related Lymphocyte Deficiencies

 

5. Lysosomal Storage Disorders

  • Fabry (FABRY)
  • Gaucher (GBA)
  • Krabbe
  • Mucopolysaccharidosis Type-I (MPS I)
  • Mucopolysaccharidosis Type-II (MPS II)
  • Niemann-Pick Disease (NPD)
  • Pompe (POMPE)

See more at: www.babysfirsttest.org