Children with special health Needs / Genetics

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Conditions Included in Screening Panel

 

Each baby born in Maine is screened for the conditions listed below. This list is correct as of July 1, 2008 but may change as conditions are added to or removed from the testing panel. If you have any questions, please contact the Maine Newborn Screening Program at (207) 287-5357.

• 3-Hydroxy-3-Methylglutaryl-CoA lyase Deficiency
• 3-Methylcrotonyl-CoA Carboxylase Deficiency
• Argininemia
• Argininosuccinic Acidemia
• Beta-ketothiolase Deficiency
• Biotinidase Deficiency (Fact Sheet)
• Carnitine Palmitoyl Transferase Deficiency Type II
• Carnitine uptake deficiency
• Citrullinemia
• Congenital Adrenal Hyperplasia - CAH (Fact Sheet)
• Congenital Hypothyroidism (Fact Sheet)
• Cystic Fibrosis (CF)
• Galactosemia (Fact Sheet)
• Glutaric Acidemia Type I
• Glutaric Acidemia Type II
• Homocystinuria (Fact Sheet)
• Hyperammonemia Hyperornithinemia Homocitrullinemia (HHH Syndrome)   
• Isovaleric Acidemia
• Long-chain Acyl-CoA Dehydrogenase (LCAD) Deficiency
• Long-chain Hydroxyacyl-CoA Dehydrogenase (LCHAD) Deficiency
• Maple Syrup Urine Disease - MSUD (Fact Sheet)
• Medium-chain Acyl-CoA Dehydrogenase (MCAD) Deficiency (Fact Sheet)
• Methylmalonic Acidemia
• Multiple carboxylase deficiency
• Phenylketonuria - PKU (Fact Sheet)
• Propionic Acidemia
• Short-chain Acyl-CoA Dehydrogenase (SCAD) Deficiency
• Sickle Cell Disease/Hemoglobin Disorders (Fact Sheet)
• Trifunctional protein deficiency
• Tyrosinemia Type I
• Tyrosinemia Type II
• Very Long-chain Acyl-CoA Dehydrogenase (VLCAD) Deficiency

 

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