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Cardiomyopathy Panels

Cardiomyopathy Panel (91 genes) 4 weeks

HCM Panel (25 genes)

HCM is characterized by non-dilated hypertrophy of the left ventricle in the absence of other 4 weeks
systemic disease.

DCM Panel (61 genes)
DCM is characterized by the dilation, and often impairment, of one or both ventricles in the 4 weeks
absence of coronary artery disease or ischemic injury.

ARVC Panel (13 genes)

ARVC is characterized by the replacement of normal heart cells with fat or fibrotic tissue, 4 weeks
predominantly in the right ventricle. The left ventricle may also be affected over time.

Noonan and RASopathies Panel (19 genes)
†
A group of genetically heterogeneous autosomal dominant disorders related to disease-causing
variants in the Ras/MAPK signaling pathway. Patients have variable characteristic dysmorphic 4 weeks
features along with other clinical characteristics (depending on the gene affected). A subset of
genes may also have cardiomyopathy as a presenting feature.

Combined Cardiac Panel (120 genes)

For patients and families with unclear or mixed clinical presentations, we also offer a combined 4 weeks
cardiac panel that includes genes associated with both arrhythmias and cardiomyopathies.
† When the Noonan and RASopathies Panel is ordered as a stand alone test deletion/duplication testing is not included

Predicted Clinical Sensitivity of Cardiomyopathy Genetic Testing**

80%

70% 40-60%
Predicted Detection Rate (%) 50% 30-50% 35-40% 40%
60%

40%

30%

20%

10%
0%
Cardiomyopathy Isolated HCM Familial DCM ARVC
Testing Indications

** These clinical sensitivities are based on published literature as opposed to internal data. Please note, that the
phenotype-specific estimates assume testing of patients with a matching clinical phenotype, while the Cardiomyopathy
Panel estimate assumes testing of patients with ambiguous clinical indications.
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