GeneSeq®: Cardio-Familial Cardiomyopathy Profile

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CPT Code:


Test Type: 10 mL Whole blood


Confirm a clinical diagnosis of Cardiomyopathy and identify presymptomatic family member, guiding prophylactic measures.

This analysis does not rule out germline mosaicism, the presence of large chromosomal aberrations (including deletions, insertions, and rearrangements), mutations in regions or genes not included in this test, and possible inter/intragenic interactions between sequence variants. False-positive or false-negative results may occur for reasons that include genetic variants, blood transfusions, bone marrow transplantation, mislabeled specimens, or erroneous representation of family relationships.

Cardiomyopathies are generally characterized by weakening and impaired contractile function of the myocardium that leads to ventricular hypertrophy or dilation. Myocardial dysfunction associated with cardiomyopathy can either be of mechanical or electrical etiology. The four major types of cardiomyopathy include dilated cardiomyopathy (DCM), hypertrophic cardiomyopathy (HCM), arrhythmogenic right ventricular dysplasia/cardiomyopathy (ARVD/C), and restrictive cardiomyopathy (RCM). Rarer types include left ventricular noncompaction (LVNC) and the amyloid-associated cardiomyopathies, such as transthyretin (TTR) amyloidosis and apolipoprotein A-1 amyloidosis (AApoA-1).

Many cardiomyopathies are now recognized as familial conditions that may be transmitted in an autosomal dominant, autosomal recessive, X-linked, or mitochondrial manner. Genetic testing for the presence of germline mutations in the genes known to be associated with cardiomyopathy may:

• Confirm a diagnosis of familial cardiomyopathy.

• Identify which subtype of a particular cardiomyopathy.

• Identify family members of an index patient who harbor the familial mutation and may wish to undergo cardiac screening at regular intervals.

• Facilitate appropriate genetic counseling for family members.

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Hershberger RI, Kushner JD, Parks SB. Dilated cardiomyopathy overview. [GeneReviews Web site]. March 19, 2009. Available at: Accessed April 25, 2012. PubMed 20301486

Maron BJ, Towbin JA, Thiene G, et al. Contemporary definitions and classification of the cardiomyopathies: an American Heart Association Scientific Statement from the Council on Clinical Cardiology, Heart Failure and Transplantation Committee; Quality of Care and Outcomes Research and Functional Genomics and Translational Biology Interdisciplinary Working Groups; and Council on Epidemiology and Prevention. Circulation. 2006 Apr 11; 113(14):1807-1816. PubMed 16567565

McNally E, MacLeod H, Dellafave L. Arrhythmogenic right ventricular dysplasia/cardiomyopathy, autosomal dominant. [GeneReviews Web site]. October 13, 2009. Available at: Accessed April 25, 2012. PubMed 20301310

Sekijima Y, Yoshida K, Tokuda T, Ikeda S. Familial transthyretin amyloidosis. [GeneReviews Web site]. January 26, 2012. Available at: http://www.ncbi.nlm.nih.gob/books/NBK1194/. Accessed May 8, 2012. PubMed 20301373

Walsh R, Rutland C, Thomas R, Loughna S. Cardiomyopathy: A systematic review of disease-causing mutations in myosin heavy chain 7 and their phenotypic manifestations. Cardiology. 2010; 115(1):49-60. PubMed 19864899

Wexler R, Elton T, Pleister A, Feldman D. Cardiomyopathy: An overview. Am Fam Physician. 2009 May 1; 79(9): 778-784. PubMed 20141097

Collection Details:

Collection Instructions:

Test orders must include an attestation that the provider has the patient's informed consent for genetic testing.

Yellow-top (ACD) tube or lavender-top (EDTA) tube.

Maintain specimen at room temperature.