Screening Tests Detect Cystic Fibrosis Gene Mutations

Two cystic fibrosis (CF) kits can quickly and accurately detect up to 39 of the most common cystic fibrosis transmembrane conductance regulator (CFTR) gene mutations from a child or parent's blood sample, or bloodspot. They provide assistance in CF screening of newborns, confirmatory diagnostic testing in newborns and children, and can be used for carrier testing in adults of reproductive age.

The kits are known as the xTAG Cystic Fibrosis 39 Kit v2 and xTAG Cystic Fibrosis 71 Kit v2. The latter screens for all of the genetic mutations in the xTAG Cystic Fibrosis 39 Kit v2 plus an additional 32 mutations typically found in specific populations. To date, more than 1,500 disease-causing CFTR mutations have been identified.

The xTAG tests are designed to be fast and easy for use, requiring only about one hour of hands-on time to process 48 purified samples. They enable physicians to select the CFTR gene mutations for which they want to test. Additionally, reflex tests are incorporated in these kits. All results are available for analysis at each run. With validated performance criteria, the xTAG Cystic Fibrosis 39 Kit v2 and xTAG Cystic Fibrosis 71 Kit v2 are accurate and reproducible.

Luminex Corp. (Austin, TX, USA), a company dealing in multiplexed solutions, announced that it has launched the two new CF tests in Europe as CE marked in vitro diagnostic (IVD) products. Milan Macek, professor of medical and molecular genetics, division of clinical molecular genetics and the national cystic fibrosis center at University Hospital Motol and Second School of Medicine Charles University (Prague, Czech Republic), explained, "The geographic distribution of CFTR gene mutations differs significantly among the European populations. Some are ubiquitous, some are rare, and some are population-specific. The possibility of having a test that can cover a wide range of mutations found in different ethnic groups is very important and will allow doctors to have better confidence [in] CF diagnosis, especially when we have cases where the ethnicity of the patient is difficult to assess."

Cystic fibrosis causes the body to produce thick mucus that can clog the lungs and affect the digestive system. The chronic disease is inherited when both of a child's parents carry the CFTR gene mutation that causes CF. Approximately 36,000 Europeans have cystic fibrosis and each year 2,500 children with the disease are born. Although CF is most common among western European populations, it can affect people of any race. According to European Cystic Fibrosis Society, as many as one in 30 Europeans are carriers of a CF-causing gene mutation.

Information about the new xTAG tests was presented at the 2009 European Cystic Fibrosis Conference, which was held June 10-13, 2009 in Brest, France.

Related Links:
Luminex Corp.
University Hospital Motol and Second School of Medicine Charles University