Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy: Deletion/Duplication Panel

Condition Description

Arrhythmogenic right ventricular dysplasia/cardiomyopathy (ARVD/C) is an autosomal dominant condition characterized by abnormalities in cardiac structure and rhythm. The fibrofatty replacement of myocardium can predispose affected individuals to ventricular tachycardia and sudden death in young individuals and athletes. Common presenting features include heart palpitation, syncope, and death. Other diagnostic criteria include right ventricular dilation and reduction of right ventricular function, and right ventricular aneurysms. The phenotype of ARVD/C is highly variable and while it primarily affects the right ventricle, it may involve the left ventricle as well.

Reference:
  • GeneReviews

Genes (7)

Your search may have returned a result for a gene alias. Click here for a full list of genes and their aliases.

Indications

This test is indicated for:
  • Confirmation of a clinical diagnosis of arrhythmogenic right ventricular dysplasia/cardiomyopathy (ARVD/C).
  • Carrier testing in adults with a family history of arrhythmogenic right ventricular dysplasia/cardiomyopathy (ARVD/C).

Methodology

Deletion/Duplication Analysis: DNA isolated from peripheral blood is hybridized to a gene-targeted CGH array to detect deletions and duplications. The targeted CGH array has overlapping probes that cover the entire genomic region.

Detection

Deletion/Duplication Analysis: Detection is limited to duplications and deletions. The CGH array will not detect point or intronic mutations. Results of molecular analysis must be interpreted in the context of the patient\'s clinical and/or biochemical phenotype.

Specimen Requirements

Listed below are EGL's preferred sample criteria. For any questions, please call 470.378.2200 and ask to speak with a laboratory genetic counselor (eglgc@egl-eurofins.com).
Submit only 1 of the following specimen types
Whole Blood (EDTA)
WBP

Requirements
EDTA (Purple Top)
Infants and Young Children (<2 years of age): 2-3 ml
Children > 2 years of age to 10 years old: 3-5 ml
Older Children & Adults: 5-10 ml
Autopsy: 2-3 ml unclotted cord or cardiac blood
Collection and Shipping
Ship sample at room temperature for receipt at EGL within 72 hours of collection. Do not freeze.
DNA, Isolated
DNA

Requirements
Microtainer
3µg
Isolation using the Perkin Elmer™Chemagen™ Chemagen™ Automated Extraction method or Qiagen™ Puregene kit for DNA extraction is recommended.
Collection and Shipping
Refrigerate until time of shipment in 100 ng/µL in TE buffer. Ship sample at room temperature with overnight delivery.
  • Comprehensive Cardiomyopathy Panel.
  • Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy: Sequencing Panel.

How to Order