MOLECULAR STUDY ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA (PKP2, DSP, DSG2) SEQUENCING, WHOLE BLOOD

New Test in CIC Catalog

Test Code: 3894

Sample:	Whole blood - EDTA (5 ml)
Conservation:	Refrigerated
Method:	Next Generation Sequencing (NGS)
Set Up Days:	Daily
TAT (Days):	30 days
Information:
Arrhythmogenic right ventricular cardiomyopathy/dysplasia (ARVC/D) is a heart muscle disease clinically characterized by life-threatening ventricular arrhythmias. ARVC/D is a major cause of sudden death in the young and in athletes. The clinical picture may include: a subclinical phase without symptoms and with ventricular fibrillation being the first presentation; an electrical disorder with palpitations and syncope, due to tachyarrhythmias of right ventricular origin; right ventricular or biventricular pump failure, so severe as to require transplantation. The pathology consists of a genetically determined dystrophy of the right ventricular myocardium with fibro-fatty replacement to such an extent that it leads to right ventricular aneurysms. The causative genes (ACTN2, DSC2, DSG2, DSP, JUP, TMEM43, LDB3, PKP2, RYR2, TGFB3) encode proteins of mechanical cell junctions (plakoglobin, plakophilin, desmoglein, desmocollin, desmoplakin) and account for intercalated disk remodeling. Familial occurrence with an autosomal dominant pattern of inheritance and variable penetrance has been reported. Recessive variants associated with palmoplantar keratoderma and woolly hair have also been described.
Links:
Orphanet- Arrhythmogenic right ventricular dysplasia
OMIM Entry - -125647 - DESMOPLAKIN; DSP
OMIM Entry - -125671 - DESMOGLEIN 2; DSG2
OMIM Entry - -602861 - PLAKOPHILIN 2; PKP2

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