Genetic Test Launched to Detect Dilated Cardiomyopathy


November 18, 2009

November 17, 2009 – A new genetic test to detect familial dilated cardiomyopathy (DCM), the FAMILION DCM Test, was introduced this week at the 2009 American Heart Association (AHA) meeting in Orlando, Fla.

“Unfortunately, the symptoms of DCM manifest during end-stage disease. This limits our ability to intervene earlier in the disease and initiate therapy that can slow disease progression,” said Jeffrey Towbin, M.D., director of cardiology and co-director of Heart Institute at Cincinnati Children’s Hospital. “Genetic testing may help us find at-risk family members before symptoms present, allowing us to start therapy earlier and successfully slow disease progression.”

The test expands the FAMILION family of genetic tests to six index tests used to diagnose or confirm familial heart disease offered by PGxHealth, a division of Clinical Data Inc.

In 2009, practice guidelines published by the Heart Failure Society of America (HFSA) supported the utilization of genetic testing for patients and their family members suspected of carrying mutations causative of DCM. The company said its FAMILION DCM Test sequences the 12 genes most commonly associated with DCM (LMNA, ANKRD1, TNNC1, SCN5A, TPM1, MYBPC3, ACT1, LDB3, PLN, MYH7, TNNT2, TNNI3). In addition, the test is the only DCM panel to include SCN5A and ANKRD1, two genes known to account for 5 percent of gene mutations in familial DCM patients.

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