Newborn Screening Services
Newborn screening is one of the Commonwealth's most successful disease prevention systems. The DCLS - Newborn Screening Laboratory partners with the VA Department of Health to ensure infants born with the following disorders are rapidly identified and treated. The laboratory provides test collection kits, sample transport service, sample preparation, initial test screening, repeat and confirmation test service support. Testing is completed using the latest technologies, including tandem mass spectrometry. Expected turn-around-time for producing "Normal" lab reports is 24 hours from sample receipt and 48 hours for "Abnormal" reports. Once an "at-risk" newborn is identified, the health department provides immediate follow-up, consultation and treatment options for parents and health care providers. Rapid identification and treatment can prevent delayed growth and development, reoccurring infections, blindness, mental retardation, and possibly death.
With recommendations from the Virginia Genetics Advisory Committee, it has been mandated (Virginia Code 32.1-65) that every child born within the Commonwealth must be tested for the following twenty-eight disorders:
Amino Acid Disorders:
Phenylketonuria (PKU)
Homocystinuria (HCY)
Maple Syrup Urine Disease (MSUD)
Citrullinemia (CIT)
Argininosuccinic acidemia (ASA)
Tyrosinemia Type I (TYR I)
Organic Acid Metabolism Disorders:
Isovaleric acidemia (IVA)
Glutaric acidemia type I (GA I)
Hydroxymethylglutaric aciduria or HMG-CoA lyase deficiency or 3-OH 3-CH3 glutaric aciduria (HMG)
Multiple carboxylase deficiency (MCD)
Methylmalonic acidemia due to mutase deficiency (MUT)
Methylmalonic acidemia cblA and cblB forms (Cbl A,B)
3-Methylcrotonyl-CoA carboxylase deficiency (3MCC)
Propionic acidemia (PROP)
Beta-Ketothiolase deficiency (BKT)
Fatty Acid Oxidation Disorders:
Medium-chain acyl-CoA dehydrogenase deficiency (MCAD)
Very long-chain acyl-CoA dehydrogenase deficiency (VLCAD)
Long-chain 3-OH acyl-CoA dehydrogenase deficiency (LCHAD)
Trifunctional protein deficiency (TFP)
Carnitine uptake defect (CUD)
Hemoglobinopathies:
Sickle cell anemia (Hb SS)
Hb S/Beta-Thalassemia (Hb S/Th)
Hb S/C disease (Hb S/C)
Others:
Galactosemia (GALT)
Biotinidase (BIOT)
Congenital hypothyroidism (CH)
Congenital adrenal hyperplasia (CAH)
Cystic fibrosis (CF)
Links to Related Sites:
New York-Mid-Atlantic Consortium for Genetic and Newborn Screening Services
National Newborn Screening & Genetics Resource Center
