QUEST Integration - Metabolic Screening Program - Newborns

Original Effective Date:
04/01/1999
Current Effective Date:
01/01/2015

All birthing facilities are required to perform routine newborn screening for metabolic disorders. The Department of Health's Newborn Screening Program tests for 32 metabolic disorders:

• Congenital hypothyroidism
• Congenital adrenal hyperplasia (CAH)
• Hemoglobinopathies (including Sickle Cell)
• Cystic Fibrosis
• Biotinidase deficiency
• Galactosemia
• Amino acid (protein disorders
  • Homocystinuria
  • Maple Syrup Urine Disease (MSUD)
  • Phenylketonuria (PKU)
  • Tyrosinemia (Types I and II)
• Fatty acid oxidation disorders
  • Short chain acyl-CoA dehydrogenase deficiency (SCAD)
  • Medium chain acyl-CoA deydrogenase deficiency (MCAD)
  • Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency (LCHAD)
  • Very long chain acyl-CoA dehydrogenase deficiency (VLCAD)
  • Multiple acyl-CoA dehydrogenase deficiency (MADD)
  • Carnitine uptake/transport defects
• Organic acid disorders
  • Beta-ketothiolase deficiency
  • Glutaric acidemia, Type I
  • Isobutyryl CoA dehydrogenase deficiency
  • Isovaleric acidemia
  • Malonic aciduria
  • Methylmalonic acidemias
  • Multiple carboxylase deficiency
  • Propionic acidemia
  • 2-Methyl-3-hydroxybutyryl CoA dehydrogenase deficiency
  • 2-Methylbutyryl CoA dehydrogenase deficiency
  • 3-Hydroxy-3-methylglutaryl (HMG) CoA lyase deficiency
  • 3-Methylcrotonyl CoA carboxylase deficiency (3-MCC)
  • 3-Methylglutaconyl CoA hydratase deficiency
• Urea cycle disorders
• Arginase deficiency
• Argininosuccinate lyase deficiency (ASA)
• Citrullinemia

To conduct the tests, hospitals must purchase a test kit from the Hawaii Newborn Metabolic Screening Program, 741 Sunset Avenue, Honolulu, HI  96816, Phone 808-733-9069, fax (808)733-9071. Allow 14-21 days for preparation and shipping.

Specimens collected in the hospital nursery before the newborn is sent home are sent for testing to the state-contracted laboratory, Oregon State Public Health Laboratory. The state's contract includes performance of the tests, costs of mailing, and any confirmation or repeat testing deemed necessary. The cost of the kit may be billed under revenue code 300. The collection is included in a hospital's reimbursement for routine newborn care.

Retesting or Confirmation Testing

If a test must be repeated because of an error in specimen collection, or if a test result is positive and confirmation testing must be done, the baby's parents should be instructed to bring the infant to the hospital laboratory for retesting. Parents should not be directed to a free-standing laboratory for retesting. Charges for repeat or confirmation testing are included in the state contract.

Details of the Newborn Metabolic Screening Program, including information on screening of newborns who are born outside of a facility, and parents who refuse the screening, can be found at the State Department of Health website http://hawaii.gov/health/family-child-health/genetics/nbshome.html.

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