New Cystic Fibrosis Test Aids in Parent and Newborn Screening

A new cystic fibrosis (CF) test screens potential parents to determine if they are carriers of CF-causing gene mutations and in confirmatory diagnostic testing in newborns and children.

The xTAG Cystic Fibrosis 39 kit (v2) detects 39 CF-causing gene mutations, including the 23 CF transmembrane conductance regulator (CFTR) gene mutations and four variants (polymorphisms) recommended by the American College of Medical Genetics (ACMG) and the American College of Obstetricians and Gynecologists (ACOG), as well as 16 additional CFTR gene mutations from human blood specimens. The xTAG kit is flexible, offering physicians the ability to select the CFTR gene mutations for which they want to test, up to the entire panel of 39 CFTR gene mutations.

This flexibility is intended to allow laboratories to avoid having to use different platforms for various testing purposes, thus saving time and resources. Additionally--similar to the first-generation xTAG CF test (v1)--the new xTAG Cystic Fibrosis 39 kit v2 does not require reflex testing; all results are revealed and available for analysis at each run, if necessary. The protocol for testing has been streamlined to make the process faster and easy to use. The xTAG Cystic Fibrosis 39 kit (v2) is a product of Luminex (Austin, TX, USA), and has been approved by the U.S. Food and Drug Administration (FDA).

"The first FDA-cleared molecular diagnostic test for cystic fibrosis demonstrated Luminex's leadership in innovative CF testing. With this improved product, we focused on our customers' need to have a faster and easier to use IVD-cleared test with broad genetic mutation coverage,” said Patrick J. Balthrop, President and CEO of Luminex. "The xTAG Cystic Fibrosis 39 kit v2 gives doctors the ability to quickly, accurately and effectively screen potential parents for CF gene mutations and diagnose the disease early, which will assist in improving the health and quality of life of people with CF around the world.”

CF is a chronic inherited genetic disease in which the body produces thick, sticky mucus that can clog the lungs and affect the digestive system, and can have debilitating and potentially life-threatening consequences. It is caused by mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene, of which over 1,500 have been identified to date. Late diagnosis of the disease is associated with chronic lung infections and compromised growth, whereas early detection and treatment has been shown to reduce therapeutic needs, lower rates of complications, and increase life expectancy.

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