Tuesday, 19 October 2010

SIDS: FAMILION(R) Postmortem Channelopathies Test

Oct 04, 2010
PGxHealth, a division of Clinical Data, Inc. , today announced the launch of a genetic test for electrical heart diseases that can be used by Medical Examiners or other licensed physicians for autopsy-negative cases of sudden unexplained death and sudden infant death syndrome. The introduction of the FAMILION(R) Postmortem Channelopathies Test at the National Association of Medical Examiners (NAME) meeting, October 1-6, 2010, in Cleveland, OH, marks the fourth significant genetic test launched by PGxHealth over the past 12 months with several more test launches expected this year. With the launch of the postmortem test, PGxHealth now offers nine FAMILION tests, and continues to lead the industry with the most comprehensive menu of genetic tests to diagnose or confirm familial heart diseases.
"One of the most important things a Medical Examiner can do when they have an autopsy-negative case of sudden unexplained death involving a young person is to try to provide some answer for a grieving family," said Michael J. Ackerman, M.D., Ph.D., Director of the Long QT Syndrome Clinic and the Windland Smith Rice Sudden Death Genomics Laboratory at the Mayo Clinic in Rochester, MN. "Postmortem genetic testing could provide an answer for many families, and if so, then enable the identification of the living family members who may be genetically at risk. If they are found to have the disease, they can receive genetic counseling, undergo more stringent clinical surveillance and, if appropriate, begin therapy to prevent symptoms."
"At PGxHealth, we recognized that select elements of our FAMILION genetic tests could be efficiently combined to create a powerful tool to complement current autopsy practices," said Benjamin Salisbury, Ph.D., Vice President of Clinical Genetics. "Nearly one-third of autopsy-negative sudden unexplained deaths among those from 1 -- 40 years and approximately 10% of sudden infant death syndrome cases have been shown to be caused by these genetic heart diseases. Our new test can find underlying disease mutations and help resolve cause of death."
About Sudden Unexplained Death and Sudden Infant Death
According to the Centers for Disease Control and Prevention, each year in the United States, 400,000 Americans die suddenly and unexpectedly due to cardiac arrhythmias. Approximately 4,000 deaths occur in people under the age of 35. The inherited cardiac channelopathies, including Long QT Syndrome (LQTS), Brugada Syndrome (BrS) and Catecholaminergic Polymorphic Ventricular Tachycardia (CPVT), are the cause of death for over 30% of Sudden Unexplained Deaths (SUDS) and 10-15% of autopsy-negative Sudden Infant Deaths (SIDS.
The FAMILION Postmortem Channelopathies Test will help Medical Examiners and other licensed physicians accurately identify some of the genetic causes of SUDS or SIDS. Further, this testing will enable families affected by inherited cardiac channelopathies to have at-risk family members identified so clinical surveillance and early intervention can begin if necessary. This test includes technology developed by Dr. Ackerman and licensed to PGxHealth by Mayo Clinic.
The FAMILION Postmortem Channelopathies Test includes targeted sequencing of 6 genes (KCNQ1, KCNH2, SCN5A, KCNE1, KCNE2, RYR2) and is performed in a CLIA-certified commercial laboratory that meets all applicable state and federal guidelines.

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