TranslateGenetic Testing
Why have it, how to access it, and how to pay for it
What is genetic testing for HCM?
Genetic testing determines if you have gene changes linked to HCM or an HCM spectrum disorder. Currently, there are over a dozen genetic disorders connected to HCM with disease-causing mutations in 40% of patients screened. They include GLA, LAMP2, MYBPC3, MYH6, MYH7, MYL2, MYL3, PRKAG2, TNNI3,TNNT2, TPM1, and TTR. Testing can use blood, cheek swabs, or saliva samples. Results typically take 3-6 weeks to get to your healthcare provider.
Why should I have genetic testing?
- To know if you have an identifiable gene for HCM.
- To identify if you have a "spectrum disorder," which may need different treatment.
- To be able to share information with your relatives who may be at risk for HCM.
- To prepare for upcoming genetic therapy options (in clinical trials now or in the future).
Do insurance providers cover genetic tests?
Insurance will likely cover the testing, but please note that each insurance company is different. Genetic testing was once very expensive, but the costs have decreased with the introduction of new technology. So, even if insurance doesn't cover it, the out-of-pocket costs are much more reasonable. Additionally, some labs offer "sponsored tests." A test may be sponsored by a researcher looking for a rare genetic condition, such as one of the HCM spectrum disorders. They pay for genetic testing for those diagnosed with HCM, and in return, the patient agrees to participate in research should they have the rare condition.
Where do I go for genetic testing?
Any doctor can order genetic testing for you. However, HCMA recommends that testing be performed and interpreted by an HCM specialist or team. A hospital or clinic may collect your sample, or you may get a home test kit.
The HCMA recommends a
Center of Excellence (COE) for all HCM care. You can apply for the
Lori Fund if you need assistance with travel expenses to a COE.
What does my genetic test result mean, and who can help me understand it?
A genetic counselor can help you decide if you need genetic testing and what your results mean. Ask your doctor if a genetic counselor is available to assist you.
There are three possible results for your HCM genetic test:
- Positive - you have a genetic mutation known to cause HCM - this may be called "pathogenic" or "likely pathogenic".
- Negative - you do not have a genetic mutation known to cause HCM. This may be called "no mutation identified."
- VUS - Variant of Uncertain Significance: your mutation needs more research to see if it causes HCM. The words "possibly pathogenic" may be used by some labs.
Important: Many people diagnosed with HCM have a negative genetic test. You still have HCM, and your family is at risk for HCM. We need more information to find a genetic cause for your HCM. As researchers learn more, you might need another test to identify your gene. If you are negative, your family members will not need to have genetic testing. Still, they should undergo regular screening for HCM with echocardiograms and cardiologist exams.
How often should I get retested if the conclusion is 'no mutation' or 'VUS'?
You should review your VUS status with your HCM care provider each time you visit, as the definition of VUSs can evolve over time. If no mutation is found, consider retesting every 3-5 years based on advances in technology.
Who should have genetic testing for HCM?
Everyone diagnosed with HCM should undergo genetic testing. Close family members of an HCM patient with positive pathogenic findings in genetic testing should consider genetic testing. Immediate family members include your parents, siblings, and children.
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