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Laboratory for Molecular Medicine

Tests for Cardiomyopathy

The Laboratory for Molecular Medicine at Mass General Brigham Personalized Medicine offers a multitude of cardiomyopathy tests for patients.

What we offer

Included with our list of offered genetic testing is supporting documentation as well as individual details specific to ordering of a particular test.

Inherited cardiomyopathies are a group of genetically heterogeneous cardiac diseases with a relatively high population frequency, association with sudden cardiac death, and substantial genetic component. Familial inheritance is common and typically follows an autosomal dominant pattern, though all other forms of inheritance exist.  The predominant forms are hypertrophic cardiomyopathy (HCM) and dilated cardiomyopathy (DCM), followed by arrhythmogenic cardiomyopathy and left ventricular non-compaction (LVNC).

The Laboratory for Molecular Medicine at Personalized Medicine offers the following cardiomyopathy tests.

PanCardiomyopathy Panel (62 Genes) Test

The PanCardiomyopathy (PCM) Panel contains 62 cardiomyopathy genes, including Titin (TTN), which encodes the largest human protein. This panel covers genes associated with HCM, DCM, RCM, LVNC, ARVC, and CPVT and uses a combination of next generation sequencing and conventional Sanger sequencing technology.

Transthyretin Amyloidosis—TTR Gene Sequencing

Amyloidosis is a name given to conditions characterized by accumulation of amyloid (proteinaceous deposits) in various tissues. In transthyretin (TTR) amyloidosis, the most common hereditary form of amyloidosis, the amyloid material is TTR.