Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Implementation of the first worldwide quality assurance program for cystic fibrosis multiple mutation detection in population-based screening.

Clinica chimica acta; international journal of clinical chemistry - 15 Jul 2011

Earley Marie C, Laxova Anita, Farrell Philip M, Driscoll-Dunn Rena, Cordovado Suzanne, Mogayzel Peter J, Konstan Michael W, Hannon W Harry

Abstract excerpt

BACKGROUND: CDC's Newborn Screening Quality Assurance Program collaborated with several U.S. Cystic Fibrosis Care Centers to collect specimens for development of a molecular CFTR proficiency testing program using dried-blood spots for newborn screening laboratories. METHODS: Adult and adolescent patients or carriers donated whole blood that was aliquoted onto filter paper cards. Five blind-coded specimens were...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Adolescent
Share to Clinical Laboratory Techniques

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Share to Cystic Fibrosis

Share to Genotype

Share to Mutation

Share to Quality Assurance, Health Care

Share to Sensitivity and Specificity

Share to Young Adult

Source

Open in PubMed Open full text

Identifiers

PMID: 21514289
DOI: 10.1016/j.cca.2011.04.011
PMCID: PMC4086748

Genes

CFTR

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Implementation of the first worldwide quality assurance program for cystic fibrosis multiple mutation detection in population-based screening.PMID 21514289Read ↗

Molecular genetic testing for cystic fibrosis: laboratory performance on the College of American Pathologists external proficiency surveys.Semantic proximity Read ↗

Standards and guidelines for CFTR mutation testing.Semantic proximity Read ↗

Population-based newborn screening for genetic disorders when multiple mutation DNA testing is incorporated: a cystic fibrosis newborn screening model demonstrating increased sensitivity but more carrier detections.Semantic proximity Read ↗

Introduction to molecular cystic fibrosis testing.Semantic proximity Read ↗

Recommendations for quality improvement in genetic testing for cystic fibrosis. European Concerted Action on Cystic Fibrosis.Semantic proximity Read ↗

Multisite Verification of a Targeted CFTR Polymerase Chain Reaction/Capillary Electrophoresis Assay That Evaluates Pathogenic Variants Across Diverse Ethnic and Ancestral Groups.Semantic proximity Read ↗

Laboratory standards and guidelines for population-based cystic fibrosis carrier screening.Semantic proximity Read ↗

Genetic testing for cystic fibrosis. National Institutes of Health Consensus Development Conference Statement on genetic testing for cystic fibrosis.Semantic proximity Read ↗

Challenges in Cystic Fibrosis Newborn Screening and Recommendations for Primary Care Physicians.Semantic proximity Read ↗

Clinical evaluation of the CF(12)m cystic fibrosis DNA diagnostic kit.Semantic proximity Read ↗

Detection of disease-causing CFTR variants in state newborn screening programs.Semantic proximity Read ↗

A New Targeted CFTR Mutation Panel Based on Next-Generation Sequencing Technology.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.