Genotyping Reagents for Cystic Fibrosis

New genotyping analyte-specific reagents (ASRs) will enable high-complexity laboratories to develop individual assays for each of the 25 cystic fibrosis (CF) genetic mutations recommended for screening.

These 25 CF mutations plus 19 other important mutations are recommended for screening by the American College of Medical Genetics (ACMG) and the American College of Obstetricians and Gynecologists (ACOG). The reagents are available from Third Wave Technologies, Inc. (Madison, WI, USA), a leading molecular diagnostics company. They are designed to complement the company's existing CF screen, providing a range of products to meet the unique CF testing needs of laboratories.

Called Invader CF genotyping ASRs, these reagents incorporate all the benefits associated with Third Wave's Invader technology platform, designed to provide laboratory customers with superior testing performance and better ease of use, compared to competitive platforms. Third Wave states that the technology offers unmatched throughput flexibility, allowing for the simple automation of high-throughput testing.

Caused by mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene, CF is one of the most common fatal inherited diseases, with a life expectancy of about 30 years. CF is an autosomal recessive disorder, meaning a copy of a mutated gene must be inherited from each parent in order for a baby to be born with the disease. A large percentage of individuals who carry CF gene mutations are unaware that they are carriers, making genetic testing an important tool in preventing the disease. In 2001, the ACMG and ACOG issued their recommendations calling for all couples seeking preconception or prenatal care to be screened for the 25 mutations, sparkng a dramatic increase in overall genetic testing for CF.

Third Wave Technologies develops and markets molecular diagnostics for a variety of DNA and RNA analysis applications. The company notes that analytical and performance characteristics are not established for the ASRs.




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