List of diseases covered by Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy NGS panel

Published 12/07/2018

List of diseases covered by Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy
NGS panel

Gene Condition
CTNNA3 Arrhythmogenic right ventricular dysplasia, familial, 13
DES Dilated cardiomyopathy 1I
DSC2 Arrhythmogenic right ventricular cardiomyopathy, type 11
DSG2 Arrhythmogenic right ventricular cardiomyopathy, type 10;
Dilated cardiomyopathy 1BB
DSP Arrhythmogenic right ventricular cardiomyopathy, type 8;
Cardiomyopathy dilated with woolly hair and keratoderma;
Cardiomyopathy, dilated, with woolly hair, keratoderma,
and tooth agenesis
FLNC Arrhythmogenic right ventricular dysplasia, familial;
Cardiomyopathy, familial hypertrophic, 26;
Cardiomyopathy, familial restrictive 5;
Myopathy, distal, 4;
Myopathy, myofibrillar, 5
JUP Arrhythmogenic right ventricular cardiomyopathy, type 12;
Naxos disease
LDB3 Cardiomyopathy, dilated, 1C, with or without LVNC;
Myopathy, myofibrillar, 4
LMNA Muscular dystrophy, limb-girdle, type 1B;
Charcot-Marie-Tooth disease, type 2B1;
Cardiomyopathy, dilated, 1A;
Emery-Dreifuss muscular dystrophy 2, AD;
Emery-Dreifuss muscular dystrophy 3, AR;
Muscular dystrophy, congenital
PKP2 Arrhythmogenic right ventricular cardiomyopathy, type 9
PLN Dilated cardiomyopathy 1P; Familial hypertrophic cardiomyopathy 18
RYR2 Arrhythmogenic right ventricular dysplasia, familial, 2;
Catecholaminergic polymorphic ventricular tachycardia type 1
TGFB3 Arrhythmogenic right ventricular dysplasia, familial 1
TMEM43 Arrhythmogenic right ventricular cardiomyopathy, type 5
TTN Muscular dystrophy, limb-girdle, type 2J;
Myopathy, proximal, with early respiratory muscle involvement;
Salih myopathy; Tibial muscular dystrophy, tardive;
Cardiomyopathy, dilated, 1G; Cardiomyopathy, familial hypertrophic, 9

Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy NGS panel

Published 19/06/2017

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.