MN Health Department List of Tests Proposed for Newborn Genetic Testing for Congenital and Heritable Disorders - 2003 *

Hemoglobinopathy
___Sickle cell disorders
___Thallasemias

Endocrine Disorders
___Hypothyroidism - Congenital
___Adrenal Hyperplasia - Congenital

Amino Acid Disorders
___Phenylketonuria
___Argininosuccinic Aciduria (ASA Lyase Deficiency)
___Citrullinemia (ASA Synthetase Deficiency)
___Hypermethioninemia,
___Homocystinuria (Cystathione synthase deficiency)
___Hyperornithinemia
___Hyperammonimemia
___Hyperhomocitrullinuria
___Maple Syrup Urine Disease (MSUD)
___Tyrosinemia

Organic Acid Disorders
___2-Methylbutryrl-CoA Dehydrogenase Deficiency (2MBCD or SBCAD)
___3-Methylcrotonyl-CoA Carboxylase Deficiency (3MCC Deficiency)
___3-Methylglutaconyl-CoA Hydratase Deficiency
___3-Hydroxy-3 Methylglutaryl-CoA Lyase Deficiency (HMG)
___Glutaric Acidemia-Type I (GA 1)
___Isobutyryl Acidemia (IVA)
___Methylmalonic Acidemia (MMA)
___Mitchondrial Acetoacetyl-CoA Thiolase Deficiency (3-Ketothiolase Deficiency),
___Multiple CoA Carboxylase Deficiency
___Propionic Acidemia (PA)

Fatty Acid Oxidation Disorders
___Short Chain Acyl-CoA Dehydrogenase Deficiency (SCAD)
___Medium Chain Acyl-CoA Dehydrogenase Deficiency (MCAD)
___Medium Chain 3-Ketoacyl-CoA Thiolase Deficiency (MCKAT)
___Multiple Acyl-CoA Dehydrogenase Deficiency
___Carnitine Transport Defect
___Carnitine Palmitoyl Transferase Deficiency-Type I (CPT-I)
___Neonatal Carnitine Palmitoyl Transferase Deficiency - Type II (CPT-II)
___Carnitine/Acylcarnitine Translocase Deficiency (CACT)
___Trifunctional Protein Deficiency (TFP Deficiency)
___3-Hydroxy Long Chain Acyl-CoA Dehydrogenase Deficiency (LCHAD)
___Very Long Chain Acyl-CoA Dehydrogenase Deficiency (VLCAD), Argininemia,

Other Disorders
___Biotinidase Deficiency
___Galactosemia
___Glucose 6 Phosphate Dehydrogenase Deficiency (G6PD)