What's New?
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 two commercial, CLIA certified labs from which your physician can order your genetic test: PGx Health 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. Companies that test for LQTS:
Trouble Paying for Genetic Testing?
Rationale: this is the most expensive test for the family-all other family tests are much less expensive when you know the family mutation
Who should be tested?
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. How can I get tested?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. What are the steps to get tested?
What about other family members and testing?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, click here--or we can send you a packet (Joanne or 1-800-STOP SAD). |
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