Dilated Cardiomyopathy (DCM): MYH7 (Full Gene Sequencing)

CPT: 81407
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Test Details

Test Includes

This test covers all coding nucleotides of gene MYH7, plus at least two and typically 20 flanking intronic nucleotides upstream and downstream of each coding exon, covering the conserved donor and acceptor splice sites, as well as typically 20 flanking nucleotides in the 5′ and 3′ UTR.

Use

Confirm a clinical diagnosis of DCM; identify presymptomatic family members, guiding prophylactic measures

Limitations

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).

Methodology

DNA sequencing

Reference Interval

Normal equals reference sequence or variants that are known or predicted to be benign; abnormal equals all other variants.

Additional Information

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.

Specimen Requirements

Specimen

Whole blood; DNA is accepted (Call 866-647-0735 for DNA collection information.)

Volume

2 mL

Container

Lavender-top (EDTA) tube

Collection

Samples may be stored for brief periods at 4°C. Ship overnight at room temperature.

Storage Instructions

Maintain specimen at room temperature.

Causes for Rejection

Container broken or leaking; container not labeled or label not legible

Clinical Information

Special Instructions

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.

References

Kamisago M, Sharma SD, Depalma SR, et al. Mutations in sarcomere protein genes as a cause of dilated cardiomyopathy. N Engl J Med. 2000 Dec 7; 343(23):1688-1696. 11106718
Villard E, Duboscq-Bidot L, Charron P, et al. Mutation screening in dilated cardiomyopathy: Prominent role of the beta myosin heavy chain gene. Eur Heart J. 2005 Apr; 26(8):794-803. 15769782

LOINC® Map

Order Code Order Code Name Order Loinc Result Code Result Code Name UofM Result LOINC
252360 DCM:MYH7 252044 Routing 41103-3
252360 DCM:MYH7 252363 DCM:MYH7 N/A

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The LOINC® codes are copyright © 1994-2017, Regenstrief Institute, Inc. and the Logical Observation Identifiers Names and Codes (LOINC) Committee. Permission is granted in perpetuity, without payment of license fees or royalties, to use, copy, or distribute the LOINC® codes for any commercial or non-commercial purpose, subject to the terms under the license agreement found at https://loinc.org/license/. Additional information regarding LOINC® codes can be found at LOINC.org, including the LOINC Manual, which can be downloaded at LOINC.org/downloads/files/LOINCManual.pdf