Dilated Cardiomyopathy (DCM): MYBPC3 (Full Gene Sequencing)

CPT: 81407
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Test Details

Test Includes

This test covers all coding nucleotides of gene MYBPC3, 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 MYBPC3 account for 2% 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 252609.

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

Daehmlow S, Erdmann J, Knueppel T, et al. Novel mutations in sarcomeric protein genes in dilated cardiomyopathy. Biochem Biophys Res Commun. 2002 Oct 18; 298(1):116-120. 12379228
Zeller R, Ivandic BT, Ehlermann P, et al. Large-scale mutation screening in patients with dilated or hypertrophic cardiomyopathy: A pilot study using DGGE. J Mol Med. 2006 Aug; 84(8):682-691. 16715312

LOINC® Map

Order Code Order Code Name Order Loinc Result Code Result Code Name UofM Result LOINC
252357 DCM:MYBPC3 252043 Routing 41103-3
252357 DCM:MYBPC3 252359 DCM:MYBPC3 N/A

For Providers

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