title: Implementation of the first worldwide quality assurance program for cystic fibrosis multiple mutation detection in population-based screening.
abstract: 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.affiliation: Centers for Disease Control and Prevention, Atlanta, Georgia 30341, USA. MEarley@cdc.gov
authors.forename: Marie C
authors.initials: MC
authors.lastname: Earley
authors.forename: Anita
authors.initials: A
authors.lastname: Laxova
authors.forename: Philip M
authors.initials: PM
authors.lastname: Farrell
authors.forename: Rena
authors.initials: R
authors.lastname: Driscoll-Dunn
authors.forename: Suzanne
authors.initials: S
authors.lastname: Cordovado
authors.forename: Peter J
authors.initials: PJ
authors.lastname: Mogayzel
authors.forename: Michael W
authors.initials: MW
authors.lastname: Konstan
authors.forename: W Harry
authors.initials: WH
authors.lastname: Hannon
mesh_terms: D000293:Adolescent; D000328:Adult; D019411:Clinical Laboratory Techniques; D003550:Cystic Fibrosis / Q000097:blood / Q000235:genetics*; D005838:Genotype; D006801:Humans; D009154:Mutation; D011785:Quality Assurance, Health Care; D012680:Sensitivity and Specificity; D055815:Young Adult