CLSI NBS05

Newborn Screening for Cystic Fibrosis, 2nd Edition

This guideline describes newborn screening laboratory tests for detecting analytes and genetic markers associated with cystic fibrosis (CF). It includes both the first-tier and second-tier screening tests performed on newborn dried blood spot specimens, as well as the screening strategies for identifying newborns at increased risk for developing CF.

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Chairholder: Debra Freedenberg, MD, PhD, FFACMG

Date of Publication: December 19, 2019

Order Code PDF: CLSI NBS05Ed2E
ISBN Number: 978-1-68440-065-2

Order Code Print: CLSI NBS05Ed2
ISBN Number: 978-1-68440-064-5

Edition: Second

Pages: 86

CLSI NBS05 Additional Details

A guideline for global application developed through the Clinical and Laboratory Standards Institute consensus process.

This document was formerly sold under the code ILA35.

CLSI NBS05 Abstract

Clinical and Laboratory Standards Institute guideline NBS05—Newborn Screening for Cystic Fibrosis describes newborn screening (NBS) laboratory tests and screening strategies used worldwide to identify newborns at increased risk of developing cystic fibrosis (CF). CF is a common genetic disorder caused by variants in the cystic fibrosis transmembrane conductance regulator (CFTR) gene. Presymptomatic detection through NBS leads to early diagnosis and improves the outcomes of babies with CF. This guideline describes comprehensively the laboratory tests for detecting CF risk among newborns as well as recommendations for follow-up evaluation. It describes the use of immunoreactive trypsinogen assays and second-tier NBS testing, including DNA analysis for detecting specific CFTR variants and pancreatitis-associated protein assays. A core panel of CFTR variants for routine testing is discussed with guidance included on NBS program considerations for core panel expansion. This guideline is intended for use by NBS laboratory, follow-up, and program personnel; public health program administrators; medical laboratories; CF center personnel and organizations responsible for CF center networks; health care providers (eg, primary care providers, neonatologists, pediatricians, disease specialists); regulatory agencies; public health policy makers; and manufacturers of instruments, reagents, and related products for NBS testing.