Introduction to molecular cystic fibrosis testing.

Timothy S. Uphoff, W. Edward Highsmith

Research output: Contribution to journalArticlepeer-review

2 Scopus citations


Technology improvements are rapidly bringing molecular diagnostics into routine laboratories. Recent recommendations for cystic fibrosis carrier testing by the American College of Medical Genetics (ACMG) have led to commercial test kit development and increased testing volumes. Molecular testing of genetic diseases presents a variety of challenges and situations that may be unfamiliar to laboratories with limited molecular genetic experience. We will briefly review the disease and discuss mutation testing indications, methodologies, quality assurance, and reporting issues associated with cystic fibrosis testing.

Original languageEnglish (US)
Pages (from-to)24-31
Number of pages8
JournalClinical laboratory science : journal of the American Society for Medical Technology.
Issue number1
StatePublished - Dec 1 2006

ASJC Scopus subject areas

  • Biochemistry, Genetics and Molecular Biology(all)


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