Newborn Screening

The Newborn Screening (NBS) Division performs mandated tests on all infants born in the state of Alabama. Each infant is screened for a variety of disorders including hypothyroidism (CH), congenital adrenal hyperplasia (CAH), galactosemia, biotinidase deficiency, cystic fibrosis (CF), sickle cell anemia and related hemoglobinopathies, amino acid disorders, fatty acid disorders, and organic acid disorders. Testing for severe combined immunodeficiency (SCID) will begin in 2018.  The panel of testing performed aids in the diagnosis of approximately 50 disorders.

An initial (First Test) sample is collected at the birthing facility when the infant is approximately 2 days of age.  A Second Test sample is collected at the pediatrician’s office at 2 to 6 weeks of age or at the hospital if the patient has extended stay.  Proper collection of the NBS specimen and accurate demographic information concerning the patient is vital to reporting of results.  The NBS Laboratory provides collection forms to all providers for collection of the specimens.

The NBS Laboratory has the most current equipment and methodologies in place for testing, such as tandem mass spectrometry (MSMS), high pressure liquid chromatography (HPLC), time resolved fluoroimmonoassay (TRF), and DNA- polymerase chain reaction (PCR). 

Each year the Alabama NBS Program identifies approximately 150-200 infants with a metabolic, endocrine, hematological, or other inherited disorder that may not be apparent at birth.  The program works closely with medical specialists, follow up staff, and primary care providers throughout the state to identify newborns requiring treatment.

Newborn screening test results are mailed to the submitting facility but are also available 24 hours a day on the Secure Remote Viewer (SRV).  For information on registration with the SRV, contact the NBS Laboratory at 334-260-3476 and/or access the SRV registration form at the website listed below.

Detailed information on Newborn Screening is available through Alabama Newborn Screening Program or by calling (334) 260-3476.

New SCID Testing

• Information Bulletin