Bristol Myers Squibb - Sponsored Genetic Testing Program - Expose HCM

US

Expose HCM

What is the BMS-Sponsored Genetic Testing Program - Expose HCM?

The BMS-Sponsored Genetic Testing Program – Expose HCM provides access to sponsored, no-charge genetic testing and genetic counseling for patients who are suspected of having, confirmed to have, or have a family history of hypertrophic cardiomyopathy (HCM). Genetic testing plays a cornerstone role in the diagnosis and management of HCM, helping clinicians support a diagnosis, clarify risk for at-risk family members, and guide long-term care decisions for patients and their families.

  • HCM is the most common inherited heart disease, yet many patients remain undiagnosed1
  • The reported prevalence of HCM ranges from 1 in 200 to 1 in 500 people in the general population2,3,4*†
  • It has been estimated that ~700,000 people in the US have HCM, yet ~85% of patients in the US remain undiagnosed5‡
  • 1 in 10 patients are only diagnosed after a cardiac event6§
  • Genetic testing can support HCM evaluation and family-risk discussions. Despite its clinical utility, real-world data suggest genetic testing/counseling remain underused in HCM care, generally due to limited availability outside of HCM Centers2
  • When patients experience fatigue, chest pain, dyspnea (especially exertional), palpitations, dizziness, and/or syncope, consider HCM7

    *The CARDIA study (published in 1995) was a multicenter, US-population-based echocardiography study of 4111 subjects (aged 23-35) that identified the prevalence of HCM as 1:500 people in the general population.3

    ‡Based on a 2013 ICD-9 claims database analysis (N=169,089,614) that estimated/concluded: 1. ~600,000 patients with undiagnosed HCM (based on analysis’ assumption that 1 in 500 prevalence represents clinically unrecognized cases), 2. ~100,000 patients diagnosed HCM (based on 2021 US Census population and the ratio of 332,330,571 patients with a claim for HCM over the total N, stratified by age/gender), and 3. ~700,000 overall US estimated prevalence of HCM.5

    §Based on a study analyzing 711 patients diagnosed with HCM.8

    †The 2015 Semsarian publication identified that the prevalence of HCM gene carriers could be as high as 1:200.4
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Program eligibility

This program is available to patients residing in the United States who meet at least one of the following eligibility requirements:

    • Confirmed Clinical Diagnosis: The patient has been diagnosed with hypertrophic cardiomyopathy (HCM)
    • Clinical Suspicion: The patient is suspected of having hypertrophic cardiomyopathy (HCM) based on symptoms or imaging findings
    • Family history: The patient has a family history (first- or second-degree relative with confirmed clinical or genetic diagnosis) of hypertrophic cardiomyopathy (HCM)
    • Post-Mortem Evaluation: Post-mortem testing where the confirmed cause of death was sudden cardiac death (SCD)*

      *Due to the sensitive nature of this type of analysis and these specimens, we suggest that clinicians contact us before sending a post-mortem specimen. Additional information may be found on our specimen requirements page

Test option

This program offers testing with the following panel. Learn more about the panel in our test catalog before placing your order on this program page.

How to order

Our easy-to-order panels align with professional guidelines, making your potential next steps clearer.

  • Step 1 duotone icon

    Step 1

    Discuss testing and get consent from the eligible patient. Place your order via our convenient online portal.

  • Step 2 duotone icon

    Step 2

    Collect your patient’s specimen using an Invitae collection kit and return it. Use the label provided to ship most samples at no additional charge from the US.

  • Genetic testing expert - Invitae icon

    Step 3

    Receive results online and access resources to guide your discussion with the patient about their results.

See how it works

Next steps and additional services

Woman smiling while providing genetic expert support

Genetic counseling services

Individuals in the US tested through the BMS-Sponsored Genetic Testing Program - Expose HCM are eligible for post-test genetic counseling to help them understand their test results. This service is made available by Labcorp Genetics at no charge as part of the program. Patients can access genetic counseling by using an online scheduling option or by contacting Client Services at 1-800-436-3037 and asking to schedule a genetic counseling appointment.

About Bristol Myers Squibb

Bristol Myers Squibb’s mission is to discover, develop and deliver innovative medicines that help patients prevail over serious diseases. At Bristol Myers Squibb, we are building on our 70-year legacy of discovering and developing paradigm-changing medicines, leveraging our experience and expertise formed over the past several decades to take cardiovascular research to the next level. BMS is driven by where the need is, to fulfill our mission by creating a world with better outcomes for those living with cardiovascular disease.
• https://www.bms.com/our-company/mission-vision-values.html
• https://www.bms.com/our-science/areas-of-focus/cardiovascular.html

CV-US-2600182 08/26

References

  1. Maron BJ, Rowin EJ, Maron MS. Global burden of hypertrophic cardiomyopathy. JACC Heart Fail. 2018;6(5):376-378.
  2. Ommen SR, Ho CY, Asif IM, et al. 2024 AHA/ACC/AMSSM/HRS/PACES/SCMR Guideline for the management of hypertrophic cardiomyopathy: a report of the American Heart Association/American College of Cardiology Joint Committee on Clinical Practice Guidelines. Circulation. 2024;149(23):e1239-e1311.
  3. Maron BJ, Gardin JM, Flack JM, Gidding SS, Kurosaki TT, Bild DE. Prevalence of hypertrophic cardiomyopathy in a general population of young adults. Echocardiographic analysis of 4111 subjects in the CARDIA study. Circulation. 1995;92(4):785-789.
  4. Semsarian C, Ingles J, Maron MS, Maron BJ. New perspectives on the prevalence of hypertrophic cardiomyopathy. J Am Coll Cardiol. 2015;65(12):1249-1254.
  5. Maron MS, Hellawell JL, Lucove JC, Farzaneh-Far R, Olivotto I. Occurrence of clinically diagnosed hypertrophic cardiomyopathy in the United States. Am J Cardiol. 2016;117(10):1651-1654.
  6. Adabag AS, Kuskowski MA, Maron BJ. Determinants for clinical diagnosis of hypertrophic cardiomyopathy. Am J Cardiol. 2006;98(11):1507-1511.
  7. University of Maryland Medical Center. Hypertrophic cardiomyopathy types, symptoms and causes. Accessed October 15, 2025. https://www.umms.org/ummc/health-services/heart-vascular/services/hypertrophic-cardiomyopathy/types-symptoms-causes
  8. Naidu SS, Sutton MB, Gao W, et al. Frequency and clinicoeconomic impact of delays to definitive diagnosis of obstructive hypertrophic cardiomyopathy in the United States. J Med Econ. 2023;26(1):682-690.

    Disclaimer: This is a sponsored testing program. While third parties and commercial organizations may provide financial support for this program, tests and services are performed by Labcorp Genetics. Healthcare professionals must confirm that patients meet certain criteria to use the program. As a condition of participating in the program, healthcare professionals may not seek reimbursement for this no-charge test from any third party, including but not limited to government healthcare programs. Third parties and commercial organizations may receive de-identified (pseudonymized) patient data from this program, but at no time would they receive patient identifiable information. Third parties and commercial organizations may receive contact information for healthcare professionals who use this program. Genetic testing and counseling are available in the US. Healthcare professionals and patients who participate in this program have no obligation to recommend, purchase, order, prescribe, promote, administer, use or support any other products or services from Labcorp Genetics or from third parties or commercial organizations.