GeneSeq® Cardio: Familial Cardiomyopathy Panel

This test is used for diagnostic testing for cardiomyopathy, including dilated cardiomyopathy, hypertrophic cardiomyopathy, arrhythmogenic right ventricular dysplasia/cardiomyopathy, restrictive cardiomyopathy and amyloid-associated cardiomyopathies such as transthyretin (TTR) amyloidosis and apolipoprotein A-1 amyloidosis. It also is used for presymptomatic testing for family members.

In cases in which there is a known variant documented in the family, the physician may prefer to order GeneSeq® Cardio Targeted Variant Analysis [485208].

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

Technologies used do not detect germline mosaicism and do not rule out the presence of large chromosomal aberrations including rearrangements and gene fusions, or variants in regions or genes not included in this test, or possible inter/intragenic interactions between variants or repeat expansions.

Variant classification and/or interpretation may change over time if more information becomes available. False positive or false negative results may occur for reasons that include: rare genetic variants, sex chromosome abnormalities, pseudogene interference, blood transfusions, bone marrow transplantation, somatic or tissue-specific mosaicism, mislabeled samples or erroneous representation of family relationships.

This test was developed and its performance characteristics determined by Labcorp. It has not been cleared or approved by the Food and Drug Administration.

Next Generation Sequencing: Identifies genetic variants, including small nucleotide variants (SNVs), insertions, deletions and copy number variants (CNVs).