| Implementation of the first worldwide quality assurance program for cystic fibrosis multiple mutation detection in population-based screening. | |
| | |
MedLine Citation:
|
PMID: 21514289 Owner: NLM Status: Publisher |
Abstract/OtherAbstract:
|
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 sent to participating newborn screening laboratories quarterly. Proficiency testing results were evaluated based on presumptive clinical assessment. Individual evaluations and summary reports were sent to each participating laboratory and technical consultations were offered if incorrect assessments were reported. RESULTS: The current CDC repository contains specimens with 39 different CFTR mutations. Up to 45 laboratories have participated in the program. Three years of data showed that correct assessments were reported 97.7% of the time overall when both mutations could be determined. Incorrect assessments that could have lead to a missed case occurred 0.9% of the time, and no information was reported 1.1% of the time due to sample failure. CONCLUSIONS: Results show that laboratories using molecular assays to detect CFTR mutations are performing satisfactorily. The programmatic results presented demonstrate the importance and complexity of providing proficiency testing for DNA-based assays. |
| | |
Authors:
|
Marie C Earley; Anita Laxova; Philip M Farrell; Rena Driscoll-Dunn; Suzanne Cordovado; Peter J Mogayzel; Michael W Konstan; W Harry Hannon |
Related Documents
:
|
15028399 - Guidelines for the infrastructure of training institutes and teaching departments for r... 21418629 - Development and evaluation of a patient centered cardiovascular health education progra... 7761029 - A holistic approach to teaching responsibility and accountability. 16494959 - Promise versus reality in relation to the unitary orienting reflex: a case study examin... 9313399 - Evaluating a primary prevention program in a multicultural population: the importance o... 12031659 - Teaching target-oriented and diversity-oriented organic synthesis at harvard university. 1941929 - Effectiveness of selected granular acaricide formulations in suppressing populations of... 8598689 - The implications for information system design of how health care costs are determined. 18835679 - Informal discussions in substance abuse treatment sessions. |
Publication Detail:
|
Type: JOURNAL ARTICLE Date: 2011-4-14 |
Journal Detail:
|
Title: Clinica chimica acta; international journal of clinical chemistry Volume: - ISSN: 1873-3492 ISO Abbreviation: - Publication Date: 2011 Apr |
Date Detail:
|
Created Date: 2011-4-25 Completed Date: - Revised Date: - |
Medline Journal Info:
|
Nlm Unique ID: 1302422 Medline TA: Clin Chim Acta Country: - |
Other Details:
|
Languages: ENG Pagination: - Citation Subset: - |
Copyright Information:
|
Copyright © 2011. Published by Elsevier B.V. |
Affiliation:
|
Centers for Disease Control and Prevention, Atlanta, Georgia 30341, USA. |
Export Citation:
|
APA/MLA Format Download EndNote Download BibTex |
| MeSH Terms | |
Descriptor/Qualifier:
|
|
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
Previous Document: The potential role of heat shock protein 27 in cardiovascular disease.
Next Document: Detection of TPN contamination of dried blood spots used in newborn and metabolic screening and its ...