Conditions Included in Screening Panel

Each baby born in Maine is screened for laboratory markers of the conditions listed below. This list is correct as of November 1, 2017, but may change as conditions are added or removed from the testing panel.

List of Secondary Conditions:

Screening for Core disorders may show information about the following disorders:

  • 2-Methylbutyrylglycinuria (2MBG)
  • 2-Methyl-3-Hydroxybutyric Aciduria (2M3HBA)
  • 3-Methylglutaconic Aciduria (3MGA)
  • Argininemia (ARG)
  • Benign Hyperphenylalaninemia (H-PHE)
  • Biopterin Defect in Cofactor Biosynthesis (BIOPT (BS))
  • Biopterin Defect in Cofactor Regeneration (BIOPT (REG))
  • Carnitine Acylcarnitine Translocase Deficiency (CACT)
  • Carnitine Palmitoyltransferase Type II Deficiency (CPT II)
  • Carnitine Palmitoyltransferase Type I Deficiency (CPT 1A)
  • Citrullinemia, Type II (CIT II)
  • Galactokinase Deficiency (GALK)
  • Galactoepimerase Deficiency (GALE)
  • Glutaric Acidemia Type II (GA2)
  • Hypermethioninemia (MET)
  • Isobutyrylglycinuria (IBG)
  • Medium-chain Ketoacyl-CoA Thiolase Deficiency (MCAT)
  • Methylmalonic acidemia with homocystinuria (Cbl C,D)
  • T-cell Related Lymphocyte Deficiencies
  • Tyrosinemia, Type II (TYR II)
  • Tyrosinemia, Type III (TYR III)
  • Various other hemoglobinopathies (Var Hb)