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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)

* The Minnesota Department of Health has authority to delete or add disorders to this roster of tests. Public notice is required.


Citizens' Council on Health Care
1954 University Avenue West, Suite 8, St. Paul, MN 55104
Phone: 651.646.8935 / Fax: 651.646.0100, e-mail