Newborn Screening

The Newborn Screening (NBS) Division performs mandated tests on infants born in 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.

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 providers for collection of the samples.

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). 

The panel of testing performed aids in the screening of approximately 33 core and 26 secondary disorders for a total of 59 disorders.  Core conditions are those which are specifically identified by the methods used in newborn screening.  Secondary conditions are those not specifically analyzed for but can be found inadvertently when screening for core conditions.  A secondary condition can also be found as a consequence of confirmatory testing for a core condition. 

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 334-290-3097 and/or access the SRV registration form by clicking on the link below.

Detailed information on Newborn Screening is available through Alabama Newborn Screening Program or by calling (334) 290-3097.