Newborn Metabolic Screening

Atlantic Health System maternity centers test newborns for 54 different disorders, including:

• 3-hydroxy-3 methyl glutaryl - CoA Lyase deficiency (HMG)
• 3-methyl -crotonyl -CoA carboxylase deficiency (3-MMC)
• Argininosuccinic acidemia
• Biotinidase deficiency
• Citrullinemia
• Congenital Adrenal Hyperplasia (CAH)
• Congenital Hypothyroidism
• Cystic Fibrosis
• Fatty acid oxidation disorders
• Galactosemia
• Glutaric acidemia Type I (GA –type 1)
• Hemoglobinopathies, including Sickle Cell
• Isovaleric acidemia (IVA)
• Long chain acyl-CoA dehydrogenase deficiency (LCAD)
• Maple Syrup Urine Disease
• Medium chain acyl-CoA dehydrogenase deficiency (MCAD)
• Methylmalonic acidemia (MMA)
• Organic Acidemias
• Phenylketonuria (PKU)
• Propionic acidemia (PPA)
• Short chain acyl-CoA dehydrogenase deficiency (SCAD)
• Very long chain acyl-CoA dehydrogenase deficiency (VLCAD)
• Urea cycle disorders

For a complete list and to learn more about New Jersey’s required metabolic screening tests, visit the New Jersey Department of Health.

Any baby with abnormal screening results will be monitored by the NJ DHSS Newborn Screening and Genetic Services Program to ensure that the child and his or her family is linked with a primary care provider and the regional network of specialty care centers to receive timely and appropriate services. Also, any baby with a metabolic birth defect will be reported to the NJ DHSS Special Child Health Services Registry that will further link the family to services.

More testing is available through other private companies for an additional cost. Discuss the need for additional testing with your obstetrician or pediatrician.

If you decide to have additional testing, the screening kit should be obtained from a laboratory authorized by the Centers for Medicare and Medicaid Services prior to delivery and brought to the hospital with you. See your registration packet for more information. Be sure to find out whether or not your insurance will cover the cost of the extra tests.