Now that genetic testing for LQTS has matured into a commercially available clinical genetic test rather than a research laboratory-based test, we are receiving lots of questions from family members and physicians—who should be tested? how can I get tested? what does it cost? In May 2004, PGx Health Pharmaceuticals, based in New Haven, CT, introduced the FAMILION™ genetic test to detect cardiac ion channel mutations. Here is some information about getting clinically tested for LQTS that may help answer your questions:
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, PGx Health will re-test the initial family member without 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.
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 FAMILION™ test. If you need a physician, we have a list of physicians around the country.
What are the steps to get tested?
1. Your doctor will get a packet from FAMILION™ (www.familion.com 866-326-4546). You and your doctor will then go over the materials and fill out the Informed Consent and the Payment Authorization so that PGx Health can work with your insurance company to get pre-authorization for the test. As this is a new test, that may take some time. According to PGx Health, most insurance companies have agreed to pay at least a portion of the cost of the test.
2. PGx Health will let your doctor know when to get your blood sample to send to them.
3. About 4-6 weeks after sending your sample, your doctor will receive the results from PGx Health.
4. You should then meet with your doctor to discuss these results and get a copy of the PGx Health report. (You should always ask to receive copies of your ECGs, test results, etc.)
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 by PGx Health 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 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, we can send you a packet (sads@sads.org or 1-800-STOP SAD).
To help gather family history information, HHS released a new, free computer program that organizes important health information into a printout that can be taken to a health care professional to help determine whether a patient is at higher risk for disease. The printout can also be placed in a patient's medical record.
The Genetic Alliance form (http://www.geneticalliance.org/ws_display.asp?filter=resources_family_history) and the Mayo Clinic form (http://www.mayoclinic.com/invoke.cfm?objectid=385FC65E-F961-49BA-99B799A3A0DAF885) are also very useful.