Medical genetic test reporting for cystic fibrosis (deltaF508) and factor V Leiden in North American laboratories

Genet Med. 2002 Sep-Oct;4(5):324-7. doi: 10.1097/00125817-200209000-00002.


Purpose: Physicians are ordering an increasing number of genetic tests. Results and additional information provided in the test result report are vital to the physician in making appropriate patient management decisions. Because variability in test result reports can impact patient care, we sought to determine whether variations exist in test reports for cystic fibrosis (CF) and factor V Leiden (fVL) with specific comparison to professional guidelines and recommendations.

Methods: A cross-sectional study design analyzing for the presence of 16 critical elements in CF reports and 12 critical elements in fVL reports solicited from United States and Canadian laboratories.

Results: Of 44 laboratories performing CF testing and 72 laboratories performing fVL testing, 64% responded. For CF reports, 21% included ethnicity, 64% described methodology, and 61% discussed genetic counseling. For fVL reports, 80% described methodology and 52% discussed the need for genetic counseling in mutation-positive reports.

Conclusions: Variability exists in report content among North American laboratories performing CF and fVL testing. Many reports lack information deemed critical by professional guidelines and recommendations.

Publication types

  • Research Support, Non-U.S. Gov't
  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Cross-Sectional Studies
  • Cystic Fibrosis / genetics*
  • Cystic Fibrosis Transmembrane Conductance Regulator / genetics
  • Disease Notification
  • Factor V / genetics*
  • Genetic Carrier Screening
  • Genetic Testing*
  • Humans
  • Laboratories / standards*
  • North America
  • Point Mutation
  • Quality Control
  • Surveys and Questionnaires
  • United States


  • CFTR protein, human
  • factor V Leiden
  • Cystic Fibrosis Transmembrane Conductance Regulator
  • Factor V