Newborn Blood Screening
Blood tests on newborns in the hospital check for metabolic (how the body digests food), endocrine (how the body controls many functions), and hemoglobin (blood) conditions. Sometimes a test needs to be repeated. This does not necessarily mean that a baby has a condition. If a baby's test needs to be repeated, a doctor or nurse will call and let the parent know. The repeat test should be done as soon as possible. It is best to have the repeat test done at the hospital where the baby was born, but a parent can go to the lab at any maternity hospital in Rhode Island.
Results from these tests are reported to the baby's doctor. Tests are available for many conditions beyond those included in Rhode Island's Newborn Screening Program. These additional tests are available for a fee through other labs. If a parent would like to have their baby receive additional testing, they should talk to the baby's doctor.
Conditions Tested
Hemoglobin Conditions
Amino Acid Conditions
- Phenylketonuria (PKU)
- Maple Syrup Urine Disease (MSUD)
- Homocystinuria (HCY)
- Citrullinemia (CIT)
- Argininosuccinic acidemia (ASA)
- Tyrosinemia type I (TYR1)
Fatty Acid Oxidation Conditions
- 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)
Organic Acid Conditions
- Isovaleric acidemia (IVA)
- Glutaric acidemia type I (GAI)
- Hydroxymethylglutaric aciduria/HMG-CoA lyase deficiency(HMG)
- Multiple carboxylase deficiency (MCD)
- Methylmalonic acidemia due to mutase deficiency (MUT)
- Methylmalonic acidemia cblA and cblB forms (CBLA, B)
- 3-Methylcrotonyl-CoA carboxylase deficiency (3MCC)
- Propionic acidemia (PROP)
- Beta-ketothiolase deficiency (BKT)