Test for Cystic Fibrosis Mutations Approved
The InPlex CF Molecular Test from Third Wave Technologies, Incorporated, was approved for marketing clearance by the Food and Drug Administration. The test both detects and identifies mutations associated with cystic fibrosis in samples of patient DNA.
The InPlex CF Test is based on genotyping. The test is based on the company’s Invader chemistry system and incorporates a microfluidic card that was developed through a partnership with 3M.
The test is intended to serve as a screening evaluation for cystic fibrosis carrier status among adults who are of reproductive age. The test can additionally be used as a screening test among newborns for the presence of cystic fibrosis, as well as serve as a confirmatory test among newborns and children.
Cystic Fibrosis screening is recommended by both the 2005 American College of Obstetrics and Gynecology (ACOG) and the American College of Medical Genetics (ACMG). The InPlex CF Molecular Test includes the recommended variants and mutations endorsed by the ACMG in 2004.
Data presented to the FDA to procure approval for the test indicates that the test had overall 100 percent agreement on genetic samples found positive for cystic fibrosis. The test had 99.96 percent concordance with findings from DNA sequencing, which is considered the gold standard for determination of genotype.
Feedback to the company from laboratory users indicate that the test is easy to use. Over 70 laboratories have already begun to use the test, which suggests that the InPlex is the most widely used method for assessment of CF status.
Cystic fibrosis is the most common disease in the United States that is inherited. Currently, over 30,000 Americans are afflicted with this fatal condition. Approximately one in 31 Americans carry a mutation associated with the disease.
March 20, 2008 Related topics: Laboratory, Pulmonary, Product Approval & Certification, Laboratory Equipment, Diagnostic