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

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
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

Arrhythmogenic Right Ventricular Dysplasia/
Cardiomyopathy
NGS panel

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

List of diseases covered by the panel


Price / TAT: 1070 EUR / 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: DSP, PKP2

Lab method: MLPA

Price / TAT: 590 EUR / 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