Newborn Screening Program
Frequently Asked Questions
- What if a baby was transfused prior to their newborn screening test?
- If baby transfused prior to newborn screening test, the results for galactosemia and Hemoglobin (Hb) pattern are invalid. The newborn screening program recommends that babies who were screened after a transfusion be retested for hemoglobinopathies via DNA testing of white blood cells. This test can be done immediately and at no charge through the NBS Program. Contact your Area Service Center for instructions. Stanford ASC (650) 724-8120
- Wha does an "ACTION REQUIRED" notification mean?
- If you received a newborn screen results mailer from the Genetic Disease Screening Program and see a notification that says “ACTION REQUIRED”, it indicates additional information or follow up is required. Unless you have been notified of the presumptive positive result, contact your Area Service Center for instructions . Stanford ASC (650) 724-8120.
- Why have their been delays in the newborn screening test I ordered?
- You may experience a delay in receiving the newborn screen results due to adrenoleukodystrophy (ALD) testing. This additional test is done at the Genetic Disease Laboratory. A 1st tier and 2nd tier testing for ALD is a measurement of the very long chain fatty acid (C26:0 lysophosphatidylcholine) done on the NBS. If both tiers are not in range, tier 3 of ABCD1 gene sequencing will be done to identify ALD causing variants. You’ll be notified if additional testing is necessary.