CLSI NBS05 A : 1ED 2011

Abstract
Committee Membership
Foreword
1 Scope
2 Introduction
3 Standard Precautions
4 Terminology
5 Introduction to Newborn Screening for Cystic
   Fibrosis
6 Pathophysiology of Cystic Fibrosis and Importance
   of Early Diagnosis through Newborn Screening
7 Immunoreactive Trypsinogen as a Primary
   Screening Test
8 CFTR Mutations
9 Current Strategies and Methods of Cystic Fibrosis
   Newborn Screening
10 Laboratory Methods for DNA Analysis in Cystic
   Fibrosis Newborn Screening
11 Guidelines for CFTR Panels in Immunoreactive
   Trypinogen/DNA Screening
12 Cystic Fibrosis Newborn Screening Follow-up
   and Variations
13 Program Evaluation and Quality Assurance
14 Communicating Results and Follow-up Information
15 Research Opportunities: Pancreatitis-Associated
   Protein Development
References
Appendix - Geographic Variations of CFTR Alleles
The Quality Management System Approach
Related CLSI Reference Materials

Specifies the use of newborn screening laboratory tests for detecting risk for cystic fibrosis from newborn dried blood spots (DBS) and addresses both the primary screening tests and the reflex tests performed on DBS.

This guideline describes the use of newborn screening (NBS) laboratory tests for detecting risk for cystic fibrosis (CF) from newborn dried blood spots (DBS). It addresses both the primary screening tests and the second or third tier tests performed on DBS. The guideline presents the various approaches used for CF NBS and discusses their strengths and limitations. It addresses the detection of specific cystic fibrosis transmembrane conductance regulator (CFTR) mutations in second-tier screening with the immunoreactive trypsinogen/deoxyribonucleic acid (IRT/DNA) strategy. Emphasis is placed on the selection of CFTR panels that have the potential to optimize IRT/DNA sensitivity and potentially ensure equity in NBS, ie, equal detection of CF in “minority populations” to the extent possible at this time. The guideline focuses on NBS and excludes prenatal testing. Only mutations currently known to cause CF disease are included in these recommendations. Special attention is given to geographically and ethnically diverse populations. The document development committee recognizes that the effects of additional mutations not listed, or even combinations of those present, are not fully understood and should be interpreted with utmost caution. The intended target audience includes NBS laboratory and program personnel, regulatory agencies, CF center personnel, neonatologists, primary care providers (PCPs), organizations responsible for networks of CF centers, and a variety of public health policy makers.