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Genetic Disorders We Test For
A complete list of conditions

  General Disorders

  • Argininemia (ARG)
  • Biotinidase Deficiency (BIO)
  • Congenital Adrenal Hyperplasia (CAH)
  • Cystic Fibrosis (CF)
  • Galactosemia (GAL)
  • Hemoglobinopathies (HGB)
  • Hypothyroidism (TSH)

  Amino Acid Disorders

  • Argininosuccinic Aciduria (ASA Lyase Deficiency)
  • Carbamoylphosphate Synthetase Deficiency (CPS Deficiency)
  • Citrullinemia (ASA Synthetase Deficiency)
  • Homocystinuria (HCys)
  • Hyperammoninemia, Hyperornithinemia, Homocitrullinemia Syndrome (HHH)
  • Hypermethioninemia (MGT)
  • Maple Syrup Urine Disease (MSUD)
  • 5-Oxoprolinuria (Pyroglutamic aciduria)
  • Phenylketonuria (PKU)
  • Tyrosinemia Type I (TYR I)
  • Tyrosinemia Type II (TYR II)

  Organic Acid Disorders

  • 3-Hydroxy-3-Methylglutaryl-CoA Lyase Deficiency (HMG)
  • Glutaric Aciduria Type I (GA I)
  • Isobutyryl-CoA Dehydrogenase Deficiency
  • Isovaleric Acidemia (IVA)
  • Malonic Aciduria
  • 2-Methylbutyryl-CoA Dehydrogenase Deficiency
  • 3-Methylcrotonyl-CoA Carboxylase Deficiency (3MCC)
  • 3-Methylglutaconyl-CoA Hydratase Deficiency (3MGH)
  • Methylmalonic Acidemia (MMA)
  • Mitochondrial Acetoacetyl-CoA Thiolase Deficiency
  • Propionic Acidemia (PPA)
  • Multiple CoA Carboxylase Deficiency (MCCD)

  Fatty Acid Oxidation Disorders

  • Carnitine/Acylcarnitine Translocase Deficiency (Translocase)
  • Carnitine Palmitoyltransferase I Deficiency (CPT I)
  • Long-Chain 3-hydroxyacyl-CoA Dehydrogenase Deficiency (LCHAD)
  • Medium-Chain Acyl-CoA Dehydrogenase Deficiency (MCAD)
  • Multiple Acyl-CoA Dehydrogenase Deficiency (MADD or GA II)
  • Carnitine Palmitoyltransferase II Deficiency (CPT II)
  • Short-Chain Acyl-CoA Dehydrogenase Deficiency (SCAD)
  • Short-Chain Hydroxy Acyl-CoA Dehydrogenase Deficiency (SCHAD)
  • Trifunctional Protein Deficiency (TFP Deficiency)
  • Very Long-Chain Acyl-CoA Dehydrogenase Deficiency (VLCAD)


 
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