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Genetic Disorders We Test For

The Mississippi Newborn Genetic Screening Panel  
This page has been automatically translated from English. MSDH has not reviewed this translation and is not responsible for any inaccuracies.

Core Conditions

  • Propionic acidemia
  • Methylmalonic acidemia (methylmalonyl-CoA mutase)
  • Methylmalonic acidemia (cobalamin disorders)
  • Isovaleric acidemia
  • 3-Methylcrotonyl-CoA carboxylase deficiency
  • 3-Hydroxy-3-methyglutaric aciduria
  • Holocarboxylase synthase deficiency
  • β-Ketothiolase deficiency
  • Glutaric acidemia type I
  • Carnitine uptake defect/carnitine transport defect
  • Medium-chain acyl-CoA dehydrogenase deficiency
  • Very long-chain acyl-CoA dehydrogenase deficiency
  • Long-chain L-3 hydroxyacyl-CoA dehydrogenase deficiency
  • Trifunctional protein deficiency
  • Argininosuccinic aciduria
  • Citrullinemia, type I
  • Maple syrup urine disease
  • Homocystinuria
  • Classic phenylketonuria
  • Tyrosinemia, type I
  • Primary congenital hypothyroidism
  • Congenital adrenal hyperplasia
  • S,S disease (Sickle cell anemia)
  • S, β-thalassemia
  • S,C disease
  • Biotinidase deficiency
  • Cystic fibrosis
  • Classic galactosemia
  • Severe Combined Immunodeficiences
  • Pompe Disease

Secondary Conditions

  • Methylmalonic acidemia with homocystinuria
  • Malonic acidemia
  • Isobutyrylglycinuria
  • 2-Methylbutyrylglycinuria
  • 3-Methylglutaconic aciduria
  • 2-Methyl-3-hydroxybutyric aciduria
  • Short-chain acyl-CoA dehydrogenase deficiency
  • Medium/short-chain L-3-hydroxyacl-CoA
  • dehydrogenase deficiency
  • Glutaric acidemia type II
  • Medium-chain ketoacyl-CoA thiolase deficiency
  • 2,4 Dienoyl-CoA reductase deficiency
  • Carnitine palmitoyltransferase type I deficiency
  • Carnitine palmitoyltransferase type II deficiency
  • Carnitine acylcarnitine translocase deficiency
  • Argininemia
  • Citrullinemia, type II
  • Hypermethioninemia
  • Benign hyperphenylalaninemia
  • Biopterin defect in cofactor biosynthesis
  • Biopterin defect in cofactor regeneration
  • Tyrosinemia, type II
  • Tyrosinemia, type III
  • Various other hemoglobinopathies
  • Galactoepimerase deficiency
  • Galactokinase deficiency
  • T-cell related lymphocyte deficiencies
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Last reviewed on Aug 4, 2017
Mississippi State Department of Health 570 East Woodrow Wilson Dr Jackson, MS 39216 866-HLTHY4U web@HealthyMS.com
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