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?

1. Test the most symptomatic person in your family (or the one with the highest QTc number) first OR the family member who has a "good" diagnosis and good insurance.

Rationale: this is the most expensive test for the family-all other family tests are much less expensive when you know the family mutation

2. Appeal your insurance company's determination if it doesn't pay enough of the cost. Sometimes multiple appeals are necessary.

             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.

3. Research what, if any, financial assistance programs are available at each company.
4. Contact Joanne Robinson at 800-786-7723 (Joanne@Sads.org).

Who should be tested?

• All patients receiving a clinical diagnosis of LQTS from their physician and who have not had a genetic test performed previously in a research laboratory.
• Anyone who was tested in a research study and who has family members who still need to be tested. (the laboratory should confirm the results obtained through the research study free of charge before any family members are tested)
• Family members of a person with mutation-proven LQTS (This is a less expensive, limited test that confirms the presence or absence of their "family" mutation(s). This test is only done after a "family" mutation(s) is identified in one person in the family).

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?

1. You or your doctor can obtain a copy of the necessary forms from the laboratory you choose. You and your doctor will then go over the materials, fill them out, and fax or mail to the company, including  the Informed Consent and the Payment Authorization forms. Once the forms are faxed or mailed, the company will assist each patient by working with their insurance provider to pre-authorize services and determine benefit information.
   Insurance coverage will be dependant on the type of insurance that you have, as well as your specific policy. The reimbursement environment for the LQTS tests has improved significantly during the past several years. Many insurance companies now have supportive coverage policies for the genetic tests, and most insurance companies have agreed to pay at least a portion of the cost of the test.
2. About 4-6 weeks after sending your sample, your doctor will receive the results.
3. You should then meet with your doctor to discuss these results and get a copy of the report. (You should always ask to receive copies of your ECGs, test results, etc.)
4. If your test results come back positive, it is very important to discuss having other family members 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).