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Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy (ARVD/C): PKP2(Full Gene Sequencing)

Test Includes This test covers all coding nucleotides of gene PKP2, 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.
Special Instructions In cases in which a known mutation can be documented, the physician may prefer to order test 252623.

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.
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
Reference Interval Normal equals reference sequence or variants that are known or predicted to be benign; abnormal equals all other variants.
Use Confirm a clinical diagnosis of ARVD/C; 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
Additional Information Arrhythmogenic right ventricular dysplasia/cardiomyopathy (ARVD/C) is a common, dominantly inherited genetic disease characterized by ventricular arrhythmias and by replacement of normal myocardial tissue with fibrotic adipose tissue that can lead to sudden cardiac death. Mutations inPKP2 account for about 25% of ARVD/C, and mutation carriers typically have 50% risk of developing symptoms. Genetic testing can confirm a clinical diagnosis of ARVD/C and allow for accurate identification of presymptomatic mutation carriers within families.
References Dalal D, Molin LH, Piccini J, et al. Clinical features of arrhythmogenic right ventricular dysplasia/cardiomyopathy associated with mutations in plakophilin-2. Circulation. 2006 Apr 4; 113(13):1641-1649. PubMed 16549640

Lahtinen AM, Lehtonen A, Kaartinen M, et al. Plakophilin-2 missense mutations in arrhythmogenic right ventricular cardiomyopathy. Int J Cardiol. 2008 May 7; 126(1):92-100. PubMed 17521752