SADS Foundation :: Sudden Arrhythmia Death Syndromes Foundation

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, PGxHealth, 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?

• All patients receiving a clinical diagnosis of LQTS from their physician and has 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. (PGxHealth will confirm the results obtained through the research study free of charge if additional family members will also be tested)
• Family members of a person with mutation-proven LQTS (this is a less expensive, limited test that confirms the presence or absence of specific mutation(s) identified in an index case).

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, PGxHealth will 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 FAMILION® 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 FAMILION® 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 either the PGxHealth website (www.pgxhealth.com ) or by contacting their Customer Service Department at 877-2-PGxHealth (877-274-9432). You and your doctor will then go over the materials and fill out the Informed Consent and the Payment Authorization forms. Once the forms are faxed or mailed to PGxHealth, they 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 FAMILION tests has improved significantly during the past several years. PGxHealth is devoting increasing resources to assist patients with reimbursement services. Several commercial payers now have supportive coverage policies specific to the FAMILION Tests, and according to PGxHealth, most insurance companies have agreed to pay at least a portion of the cost of the test.
2. PGxHealth will contact the patient with their insurance information prior to the initiation of testing. Once you have agreed to proceed with testing based upon your insurance benefits, PGxHealth will let your doctor know that they are sending them a test kit and you will need to get your blood sample drawn 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.)
5. 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 by PGxHealth 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, we can send you a packet (info@sads.org or 1-800-STOP SAD).

Other Resources for Family Health History

To help gather family history information, the Department of Health and Human Services released a new, free software 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. See for more info.

The Genetic Alliance form and the Mayo Clinic form are also very useful.

Blue Cross Blue Shield also provides some good info on testing.