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Dilated Cardiomyopathy (DCM): MYH7 (Full Gene Sequencing)
Confirm a clinical diagnosis of DCM; identify presymptomatic family members, guiding prophylactic measures
This method does not reliably detect mosaic variants; large deletions; large duplications, inversions, or other rearrangements; or deep intronic variants. It may be affected by allele-dropout, it may not allow determination of the exact numbers of T/A or microsatellite repeats, and it does not allow any conclusion as to whether two heterozygous variants are present on the same or on different chromosome copies.
This test was developed, and its performance characteristics determined, by LabCorp. It has not been cleared or approved by the US Food and Drug Administration (FDA).
Normal equals reference sequence or variants that are known or predicted to be benign; abnormal equals all other variants.
Dilated cardiomyopathy (DCM) is characterized by left ventricular dilation and systolic dysfunction leading to progressive heart failure. DCM-related heart failure is one of the most common indications for heart transplantation, and DCM is also associated with cardiac arrhythmias that can lead to stroke or sudden cardiac death. Up to 50% of DCM are familial and typically dominantly inherited. Mutations in MYH7 account for 5% to 10% of familial DCM, and mutation carriers typically have a 40% to 50% risk of developing symptoms. Genetic testing can confirm a clinical diagnosis of DCM and allow accurate identification of presymptomatic mutation carriers within affected families.
Whole blood; DNA is accepted (Call 866-647-0735 for DNA collection information.)
Samples may be stored for brief periods at 4°C. Ship overnight at room temperature.
Causes for Rejection
In cases in which a known mutation can be documented, the physician may prefer to order test 252612.
Test orders must include an attestation that the provider has the patient's informed consent for genetic testing. See sample physician office consent form: Consent for Genetic Testing. In the case of family tests (ie, known mutations), Correlagen requires the result report of the first patient tested in the family (the index case), if not performed at Correlagen. Other family members are subsequently tested for the specific mutation found in the first patient tested.
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