Arrhythmogenic Right Ventricular Dysplasia/
Cardiomyopathy
NGS panel

Genes
(full
coding region):		 CTNNA3, DES, DSC2, DSG2, DSP, FLNC, JUP, LDB3, LMNA, PKP2, PLN, RYR2, TGFB3, TMEM43, TTN

List of diseases covered by the panel
Lab method: NGS panel with CNV analysis
TAT: 6-9 weeks
Specimen requirements: 2-4 ml of blood with anticoagulant EDTA

1 µg DNA in TE, AE or pure sterile water at 100-250 ng/µl
The A260/A280 ratio should be 1.8-2.0. DNA sample should be run on an agarose gel as a single band, showing no degradation, alongside with a quantitative DNA marker.
Ordering information: Go to online ordering or download sample submission form

Deletion/duplication analysis

Genes: DSC2, DSG2, DSP, JUP, PKP2, RYR2, TGFB3
Lab method: MLPA
TAT: 4-6 weeks
Specimen requirements: 2-4 ml of blood with anticoagulant EDTA

1 µg DNA in TE, AE or pure sterile water at 100-250 ng/µl
The A260/A280 ratio should be 1.8-2.0. DNA sample should be run on an agarose gel as a single band, showing no degradation, alongside with a quantitative DNA marker.
Ordering information: Go to online ordering or download sample submission form

Indications for genetic testing:

  1. Confirmation of clinical diagnosis
  2. Testing patients with arrhythmia with nonspecific cardiomyopathy
  3. Risk assessment in relatives
  4. Prenatal diagnosis for known familial mutation
  5. Genetic counseling

Arrhythmogenic right ventricular cardiomyopathy (ARVC) is characterized by progressive fibrofatty replacement of the myocardium that predisposes to ventricular tachycardia and sudden death in young individuals and athletes. ARVC affects the right ventricle and in some cases also the left ventricle. The most common presenting symptoms are heart palpitations, syncope, and sudden death.

The presentation of disease is highly variable, and some affected individuals may not meet established clinical criteria. The mean age at diagnosis is 31 years.

ARVC is typically inherited in an autosomal dominant manner.

References:

Fontaine G et al. Arrhythmogenic right ventricular cardiomyopathies: clinical forms and main differential diagnoses. Circulation. 1998;97:1532–5. 
McNally E et al. Arrhythmogenic Right Ventricular Cardiomyopathy. GeneReviews Initial Posting: April 18, 2005; Last Update: May 25, 2017.