Genetic testing for LQTS is now the "standard of care" and for other SADS conditions (like CPVT, Brugada, etc.) it is increasingly being used to diagnose and treat people. For people with high QT numbers, the genetic test will help your physician recommend treatment-including an ICD. It will also help your family members to get diagnosed and treated. For people with a "borderline" diagnosis because your QTc number may be low (more normal) and you have no symptoms, genetic testing can help "rule out" or "confirm" your diagnosis of LQTS.
There are several commercial, CLIA certified labs from which your physician can order your genetic test, including Transgenomic and GeneDx. As with any healthcare service, it is always a good idea to be a wise consumer and research each company to see which one might be the better choice for you.
Click here for insurance help for genetic testing
Transgenomic (Familion) website http://www.transgenomic.com/cardiology-familion
Customer Service Department at 1.877.274.9432
GeneDx website http://www.genedx.com/cardiology 301-519-2100
PreventionGenetics website http://www.PreventionGenetics.com 715-384-0484
Ambry website http://www.ambrygen.com/hereditary-cardiovascular-testing
Invitae website https://www.invitae.com
Rationale: this is the most expensive test for the family-all other family tests are much less expensive when you know the family mutation
For help: talk with the lab that is doing your test and look here for more insurance tips. Remember it is especially helpful to have your employer advocate for you.
If a family member or other relative (index case) was tested previously in a research laboratory and now other family members/relatives are seeking confirmatory genetic testing, the laboratory should re-test the initial family member free of charge in order to verify/confirm the research finding and then proceed with genetic testing of appropriate family members/relatives seeking testing. This approach constitutes a substantial savings to the family since the Family Specific Test is less expensive.
Your doctor needs to order this test just like any other medical test. We recommend that you be evaluated by an electrophysiologist or a cardiologist who can then order the test. If you need a physician, we have a list of physicians around the country.
Your doctor will be able to help you determine if other family members should be tested. In general, if your test is positive, your children, siblings, and parents should be tested, too. This means they will have an ECG and then be tested for your specific mutation. This test is less expensive than the initial test.
Based upon the test results of your close family members, others in your family (grandparents, aunts/uncles, nieces/nephews, etc.) may need to get tested, too. You should compile a medical family tree for your extended family in order to make sure that a physician evaluates everyone who might be at risk for LQTS.
If you need a form (or instructions) to do this, contact Matt Siemionko, Director of Family Support at Matt@sads.org, or 1-800-STOP SAD.
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