Informed decision-making for HCM genetic testing

An easy-to-use clinical tool to aid genetic counseling and guide an informed discussion

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The hypertrophic cardiomyopathy (HCM) genotype predictor score pad is an easy-to-use clinical tool that aids in the identification of patients presenting with HCM who are most likely to benefit from genetic testing. The score pad uses six simple clinical markers to predict the probability of identifying rare genetic variants that may cause a patient's disease.1,2 This personalized assessment helps clinicians tailor genetic test counseling and aids patients in their decision to pursue genetic testing.

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  • Genetic testing for HCM is recommended by guidelines and expert consensus statements.3-5
  • HCM is a dominant disorder, thus the risk that an affected patient will transmit the altered to each child is 50%.
  • People with pathogenic HCM variants have a substantial (95%) risk over a lifetime for developing HCM.5
  • Positive HCM genetic results are associated with greater risk for unfavorable cardiac outcomes compared to HCM patients who test genetically negative.6
  • A positive test result has implications for not just the patient, but also family members.5
Learn more about the Invitae Hypertrophic Cardiomyopathy Panel

Support from start to finish

Clinical Support Service

Invitae’s board-certified genetic counselors can support you and your patients through the testing process.

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Simple pricing. Simple billing. No surprises.

Invitae’s pricing for clinical area is $475 patient pay, $950 in contract; and $1500 list price.*

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1Bos JM, Will ML, Gersh BJ, Kruisselbrink TM, Ommen SR and Ackerman MJ. Characterization of a phenotype-based genetic test prediction score for unrelated patients with hypertrophic cardiomyopathy. Mayo Clin Proc. 2014;89:727-37.

2Murphy SL,, Anderson JH, Kapplinger JD, et al. Evaluation of the Mayo Clinic Phenotype-Based Genotype Predictor Score in Patients with Clinically Diagnosed Hypertrophic Cardiomyopathy. J Cardiovasc Transl Res. 2016;9:153-61.

3Ackerman MJ, Priori SG, Willems S, et al. HRS/EHRA Expert Consensus Statement on the State of Genetic Testing for the Channelopathies and Cardiomyopathies. Heart Rhythm. 2011;8:1308-39.

4Hershberger RE, Lindenfeld J, Mestroni L, et al. Genetic evaluation of cardiomyopathy – a heart failure society of America practice guideline. Journal of Cardiac Failure. 2009;15:83-97.

5Gersh BJ, Maron BJ, Bonow RO, et al. 2011 ACCF/AHA guideline for the diagnosis and treatment of hypertrophic cardiomyopathy. Circulation. 2011;124:2761-96.

6Olivotto I, Girolami F, Ackerman MJ, et al. Myofilament protein gene mutation screening and outcome of patients with hypertrophic cardiomyopathy. Mayo Clin Proc. 2008;83:630-638.