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

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

Research output: Contribution to journalArticle


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.

Original languageEnglish (US)
Pages (from-to)1376-1381
Number of pages6
JournalClinica Chimica Acta
Issue number15-16
StatePublished - Jul 15 2011



  • CFTR mutations
  • Newborn screening
  • Proficiency testing

ASJC Scopus subject areas

  • Biochemistry
  • Clinical Biochemistry
  • Biochemistry, medical

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