One of the western world’s more virulent yet little know killers has a new detective on its trail.
Cystic fibrosis, a progressive, multisystem disease occurs when a defective gene dangerously thickens secreted body fluids. This most common life-threatening disorder occurs when two copies of an abnormal gene are passed down through families and is the most commonly inherited disease in the U.S., according to The American College of Obstetricians and Gynecologists.
To catch it in its tracks, CBS Labs in Miami has launched a simple blood test, the Cystic Fibrosis 139- Variant Assay . This new diagnostic tool can detect 139 different disease-causing mutations and variants of the genes in the DNA taken from a single whole blood specimen.
Intended as an initial test to identify healthy individuals with Cystic Fibrosis gene mutations, the test screens adults of reproductive age so that those who are carriers are aware. In cases where both parents are carriers, each child has a one in four chance of being born with Cystic Fibrosis. CBS Labs CF-139 test results should be interpreted along with other lab and clinical data by a genetic counselor. The test in not intended as a standalone diagnostic tool, or to be used for screening of newborns or fetal diagnostic testing.
The CF-139 test meets performance standards that inspire confidence in users by utilizing the CFTR2 database maintained by Johns Hopkins University and is an FDA Cleared test.. CBS Labs runs the CF-139 test on an Illumina® MiSeqDx instrument, a cost-effective platform that runs both the Cystic Fibrosis 139-Variant Assay and other tests such as BRCA 1 & BRCA 2..
Genetic testing for Cystic Fibrosis at CBS Labs is highly accurate with duplicated results equal to or greater than 99.7%. Timely delivery of results have been noted, with a sample first pass rate equal to or greater than 99.7%. In addition, the system is built upon the well-established Illumina® sequencing technology, according to PubMed database publications.
CBS Labs also uses Illumina® sequencing technology for its equally reliable oncology diagnostics.
CBS Labs was founded in 2001 in response to South Florida’s need for high quality, local laboratory services.
Cystic Fibrosis (CF) is an inherited genetic disorder that causes breathing and digestive problems. Individuals with CF have a current life expectancy of approximately 37 years, and the cause of death usually is lung damage, although damage to the digestive system can also be severe. Approximately 15% of affected individuals have a mild form of the disease and live an average of 56 years. Common symptoms include coughing, wheezing, loose stools, abdominal pain, failure to thrive, and, in men, infertility. Treatment involves medication to aid digestion, proper nutrition, and lung therapy.
Source: American College of Obstetricians and Gynecologists
For more information, contact CBS Labs by phone at (305) 882-1051 or visit www.CBSLaboratory.com
