FREE Genetic Testing

Understanding Cardiomyopathy and Genetic Testing

Cardiomyopathy is a serious heart problem and one of the main causes of heart failure and sudden heart-related death. Many people don’t know that up to half of all cases are genetic—meaning the condition can be passed down through families and affect several generations.

Genetic testing can help find out what caused your cardiomyopathy, guide your doctor in choosing the right treatment, and give your family important information that could even save lives.

Doctors and medical experts recommend by current medical guidelines:

Genetic testing for people with non-ischemic cardiomyopathy
➤ where it can help find the cause or guide treatment.

Genetic testing for close family members
➤ if a genetic cause is found, to help find the condition early and reduce the risk of serious problems.

Even with these recommendations, studies show that fewer than 2% of people with cardiomyopathy have had genetic testing—leaving many families without the answers they need.

To help close this gap, the Genetic Cardiomyopathy Awareness Consortium is helping connect patients with several genetic testing companies that offer testing to cardiomyopathy patients and their family members. See below for testing options.

What About Family Members?

Adult First-Degree relatives where a family member has tested positive for genetic cardiomyopathy —- close relatives, especially parents, siblings, and children, may also carry the same variant and should be tested.

Why Is Testing and Re-Testing Important?

Click the videos below to learn why testing and retesting is important, and understanding genetics and your test results.

Testing Options

Below are several testing options where you may order genetic testing or a family member may order genetic testing once a relative with cardiomyopathy has completed initial testing and has a positive test result.

Note: If you have already been tested for cardiomyopathy, you must be retested by one of these providers below to qualify for free family testing.

• Formerly Everygene
• Free to patient
• Free to family members
• Available in the US only

• Formerly Everygene
• Free to patient
• Free to family members
• Available in the US only

• Patient Insurance accepted, $0-100 average out of pocket cost
• Family members free w/in 90 days of patient ordering test
• Available in the US and Canada only

• Patient Insurance accepted; financial aid if qualify; Unlock program which includes sponsored, no cost testing for under insured or no insurance.
• Family members free within 150 days of patient ordering test
• Available in the US and international

Testing Options Summary Chart

See the Complete Testing Comparison Chart to learn more about the details around Ambry, Everygene and the Invitae tests.

Cost	Free	Insurance Accepted	Insurance Accepted
Cascade Testing Cost	Free	Free Within 150 Days	Free Within 90 Days
Can Patient Order Direct?	Yes	No. Doctor or Genetic Counselor Must Order	No. Doctor Must Order
Kit Delivery	Sent to Patient Home	Sent to Patient Home	Sent to Patient Home
Results Sent To:	Patient Positives Sent to Doctor	Ordering Provider	Doctor
Post Test Genetic Counseling	Video Call	Telephone Call	Video or Telephone Call
Test / Sensitivity	Exome / 99%	Targeted Panel / > 99%	Targeted Panel / > 99%

References

Polovina, M., Tschöpe, C., Rosano, G., Metra, M., Crea, F., Mullens, W., Bauersachs, J., Sliwa, K., de Boer, R. A., Farmakis, D., Thum, T., Corrado, D., Bayes-Genis, A., Bozkurt, B., Filippatos, G., Keren, A., Skouri, H., Moura, B., Volterrani, M., Abdelhamid, M., … Seferović, P. M. (2023). Incidence, risk assessment and prevention of sudden cardiac death in cardiomyopathies. European Journal of Heart Failure, 25(12), 2144–2163. https://doi.org/10.1002/ejhf.3076

Bozkurt, B., Colvin, M., Cook, J., Cooper, L. T., Deswal, A., Fonarow, G. C., Francis, G. S., Lenihan, D., Lewis, E. F., McNamara, D. M., Pahl, E., Vasan, R. S., Ramasubbu, K., Rasmusson, K., Towbin, J. A., & Yancy, C. (2016). Current diagnostic and treatment strategies for specific dilated cardiomyopathies: A scientific statement from the American Heart Association. Circulation, 134(23), e579–e646. https://doi.org/10.1161/CIR.0000000000000455

Ahmad, F., McNally, E. M., Ackerman, M. J., Baty, L. C., Day, S. M., Kullo, I. J., Madueme, P. C., Maron, M. S., Martinez, M. W., Salberg, L., Taylor, M. R., & Wilcox, J. E. (2019). Establishment of specialized clinical cardiovascular genetics programs: Recognizing the need and meeting standards: A scientific statement from the American Heart Association. Circulation: Genomic and Precision Medicine, 12(6), e000054. https://doi.org/10.1161/HCG.0000000000000054

Hershberger, R. E., Givertz, M. M., Ho, C. Y., Judge, D. P., Kantor, P. F., McBride, K. L., Morales, A., Taylor, M. R. G., Vatta, M., & Ware, S. M. (2018). Genetic evaluation of cardiomyopathy: A Heart Failure Society of America practice guideline. Journal of Cardiac Failure, 24(5), 281–302. https://doi.org/10.1016/j.cardfail.2018.03.004

Heidenreich, P. A., Bozkurt, B., Aguilar, D., Allen, L. A., Byun, J. J., Colvin, M. M., Deswal, A., Drazner, M. H., Dunlay, S. M., Evers, L. R., Fang, J. C., Fedson, S. E., Fonarow, G. C., Hayek, S. S., Hernandez, A. F., Khazanie, P., Kittleson, M. M., Lee, C. S., Link, M. S., Milano, C. A., … Yancy, C. W. (2022). 2022 AHA/ACC/HFSA guideline for the management of heart failure: A report of the American College of Cardiology/American Heart Association Joint Committee on Clinical Practice Guidelines. Journal of the American College of Cardiology, 79(17), e263–e421. https://doi.org/10.1016/j.jacc.2021.12.012

Morales, A., Moretz, C., Ren, S., Smith, E., Callis, T. E., Hall, T., Hatchell, K. E., Nussbaum, R. L., Regalado, E., Rojahn, S., Vatta, M., Esplin, E. D., & Murillo, J. (2024). Real-world genetic testing utilization among patients with cardiomyopathy. Circulation: Genomic and Precision Medicine, 17(1), e004028. https://doi.org/10.1161/CIRCGEN.122.004028