How Genetic Testing Helps - Diagnosis & Treatment

If you are diagnosed with an inherited arrhythmia and no one in your family has been genetically tested, genetic testing can help in two ways:
       1) identify your family mutation to help your other relatives know the “family gene”, and
       2) help your doctor guide the treatment for your specific gene mutation.
Knowing your mutation can affect which medication is chosen and contribute to the decision of whether or not to recommend an ICD.

If your diagnosis is unclear and your family mutation is known, genetic testing can help clarify whether or not you have an inherited arrhythmia. Parents, siblings, and children (or future children) can also be tested for the "family gene" to see if they need to be treated.

If your diagnosis is unclear and no one in your family has been genetically tested, genetic testing can be done on a person in your family that has already been diagnosed, or the person who has the strongest likelihood of having a SADS condition. If they test positive, then you can be tested for their mutation – because it is considered your “family gene”.

If you (or a family member) tested negative with genetic testing, it could mean any of the following:

• You still have a SADS condition but your mutation has not been discovered yet (e.g., this is true for 25% of confirmed LQTS patients whose EKGs, symptoms, and family history are sufficient to make the diagnosis)
• You may have a different SADS condition than the specific one you were tested for
• You may not have SADS but this needs to be determined very carefully by a knowledgeable physician because there are many people with LQTS and other inherited arrthymias who may be "concealed" on a resting EKG and whose genetic mutation has not been discovered - so they test negative with genetic testing.

There are several commercial CLIA certified labs from which your physician can order your genetic test. 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 best choice for you.

Genetic Testing Companies:

Ambry Genetics
www.ambrygen.com
Client Services 949-900-5500

Blueprint Genetics
www.blueprintgenetics.com
Customer Support 650-452-9340

Gene Dx
www.genedx.com
301-519-2100

Invitae
www.invitae.com
Testing inquiries 415-374-7782

For DNA Banking:

Prevention Genetics
www.preventiongenetics.com
715-387-0484

Who should be tested?

• All patients receiving a clinical diagnosis of a SADS diagnosis from their physician and who have not had a genetic test performed previously in a research laboratory.
• Family members of a person with mutation-proven inherited arrhythmia. Confirming the presence or absence of the  "family gene" is a less expensive, limited test done after a disease-causing mutation(s) is identified in one person in the family.
• 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)

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 SADS conditions 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.

Click here for insurance help for genetic testing

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 Lynn Johnson, Director of Family Support or call 801-272-3023.

---

Access to Genetic Testing: You Deserve Better!

Genetic Testing: How to Navigate the Maze

Genetic Testing - Clinical vs. Research

The Role of Genetic Testing in the Diagnosis and Treatment of Long QT Syndrome

Scientific Articles & Links