• Test Code:
    1158
  • Department:
  • Test Synonyms:
    ARVCVentricular ArrhythmiaDSC2DSG2DSPJUPLMNAMYBPC3MYH7PKP2RYR2TGFB3TMEM43TTN
  • CPT Code(s):
    81439
Background:

The inherited cardiomyopathies comprise a group of genetically heterogeneous diseases, the most common of which are hypertrophic cardiomyopathy (HCM), dilated cardiomyopathy (DCM), arrhythmogenic right ventricular cardiomyopathy (ARVC), and left ventricular non-compaction (LVNC).  These disorders have an impact across all age groups.  Overall, the prevalence of these disorders is estimated at approximately 1/500 (0.2%). 

ARVC is a type of cardiomyopathy defined by the progressive replacement of the myocardium with fibrous/fatty tissue, which increases the risk of ventricular arrhythmia and sudden death. The prevalence of ARVC is estimated to be between 1/1,000 and 1/1,250. This next-generation sequencing test is designed to detect mutations in the coding region of 12 genes associated with Arrhythmogenic Right Ventricular Cardiomyopathy.

Reasons for Referral:

  • Echocardiogram results suspicious for cardiomyopathy.
  • Clinical presentation consistent with Arrhythmogenic Right Ventricular Cardiomyopathy.
  • Positive family history for Arrhythmogenic Right Ventricular Cardiomyopathy (targeted testing is available if familial mutation is known).
  • Carrier testing.

Methodology:

Next generation sequencing will analyze the exons or coding regions of 12 Arrhythmogenic Right Ventricular Cardiomyopathy-associated genes using Illumina NextSeq 500 technology.  Samples are prepared using hybridization probes to enrich exonic regions.  Promoter, intronic, etc. regions are not assessed on our assay, but may contain variants that impact gene function.

The 12 Arrhythmogenic Right Ventricular Cardiomyopathy-associated genes are listed below:
DSC2, DSG2, DSP, JUP, LMNA, MYBPC3, MYH7, PKP2, RYR2, TGFB3, TMEM43, TTN

Specimen Requirements:

Blood: EDTA or ACD (Solution A or B):

  • Adult: 5 mL
  • Child: 5 mL
  • Infant: 2-3 mL

Saliva: 2 ORAgene Saliva Kit(s) (OGR-500)
Skin Fibroblast: Punch Biopsy, or 2 T-25 confluent flasks
DNA: 1-2µg at a minimum of 50-100ng/µL (DNA must be extracted in a CLIA-certified laboratory or a laboratory meeting equivalent requirements as determined by the CAP and/or CMS)

For routine testing of blood, saliva and buccal swabs, KDL does NOT accept samples from patients within two (2) weeks of a packed cell/platelet transfusion or within four (4) weeks of a whole blood transfusion.  For extraordinary circumstances, where testing must be performed outside of the above windows, please contact our lab.

A REQUISITION FORM MUST ACCOMPANY ALL SAMPLES.  Please include detailed clinical information, including ethnicity, clinical history, and family history.

Test Performed (Days):

Weekly

Turn Around Time:

8 weeks

Shipment Sensitivity Requirements:

  • Package and ship specimen to remain cold, but not frozen. 
  • Ship via overnight express, using the FedEx priority overnight label provided. 
  • Contact Client Services for shipping kits and instructions at (855) 535-1522.

References:

  1. GeneReviews: McNally et al., 2014, http://www.ncbi.nlm.nih.gov/books/NBK1131/
  2. Genetics Home Reference: http://ghr.nlm.nih.gov/condition/arrhythmogenic-right-ventricular-cardiomyopathy

Additional Info:

The Knight Cancer Institute at Oregon Health & Science University is a pioneer in the field of precision cancer medicine. The institute's director, Brian Druker, M.D., helped prove it was possible to shut down just the cells that enable cancer to grow. This breakthrough has made once-fatal forms of the disease manageable and transformed how cancer is treated. The OHSU Knight Cancer Institute is the only National Cancer Institute-designated Cancer Center between Sacramento and Seattle – an honor earned only by the nation's top cancer centers. It is headquarters for one of the National Cancer Institute's largest research collaboratives, SWOG, in addition to offering the latest treatments and technologies as well as hundreds of research studies and clinical trials.

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