Newborn Screening and Molecular Biology Branch

The Newborn Screening and Molecular Biology Branch (NSMBB) has the only laboratory in the world devoted to ensuring the accuracy of newborn screening tests in every state and more than 80 countries. Newborn screening is a vital public health program that tests babies for congenital disorders that are not apparent at birth. The Newborn Screening Quality Assurance Program (NSQAP) develops analytical methods to measure substances in dried blood spots (DBSs) and produces certified DBS quality-control and reference materials for newborn screening tests. Because of NSQAP, parents and doctors in the United States and worldwide can trust the results of newborn screening tests.

NSQAP works with other programs in the NSMBB: the Biochemical Mass Spectrometry Laboratory, the Newborn Screening Translation Research Laboratory, and the Molecular Quality Improvement Program.

The Biochemical Mass Spectrometry Laboratory offers newborn screening tandem mass spectrometry (MS/MS) services, education, and research opportunities. It also oversees the amino acids, acylcarnitines, biotinidase, total galactose (TGal), galactose-1-phosphate uridyltransferase (GALT), x-linked adrenoleukodystrophy (XALD) and filter paper evaluation programs.

The Molecular Quality Improvement Program oversees the cystic fibrosis DNA PT program and helps newborn screening laboratories with molecular testing. It also offers the molecular assessment program, which conducts site visits to U.S. newborn screening laboratories that carry out molecular testing. These visits assess all components of molecular testing. This includes program-tailored guidance for laboratory-specific needs and help in evaluating ongoing and future molecular testing procedures.

The Newborn Screening Translation Research Initiative administers the T-cell receptor excision circle and lysosomal storage disorders programs. The initiative is an ongoing collaboration between the CDC Foundation and the Newborn Screening and Molecular Biology Branch.