MOLECULAR STUDY CATECHOLINERGIC POLYMORPHIC VENTRICULAR TACHYCARDIA (CASQ2) SEQUENCING, WHOLE BLOOD

New Test in CIC Catalog

Test Code: 3897

Sample:	Whole blood EDTA (minimum 10 ml)
Conservation:	Refrigerated
Method:	Next Generation Sequencing (NGS)
Set Up Days:	Daily
TAT (Days):	30 days
Information:
Catecholaminergic polymorphic ventricular tachycardia (CPVT) is a severe genetic arrhythmogenic disorder characterized by adrenergically-induced ventricular tachycardia (VT) manifesting as syncope and sudden death. Typical age of onset of CPVT is between 7 and 9 years of age with no sex difference. Syncopal spells, brought on by exercise or acute emotion, are frequently the first symptom observed. Sudden death can be the first manifestation of the disease in a subset of patients (10-20%). The typical arrhythmias of CPVT are bidirectional ventricular tachycardia and, less frequently, supraventricular tachycardia and atrial fibrillation. The two genes responsible for CPVT that have been discovered to date, are the cardiac ryanodine receptor (RYR2) gene (1q43), which is the cause of CPVT in approximately 55% to 65% of cases, and the cardiac calsequestrin (CASQ2) gene (1p13.3-p11) seen much less frequently in approximately 2% of CPVT cases. Mutations of the KCNJ2 gene (17q24.3), which in the majority of cases are linked with Andersen syndrome, can produce adrenergic-dependent bidirectional tachycardia in the absence (or very mild presence) of other signs of the disease, thus producing a CPVT phenocopy. Screening for the RYR2 mutation (which follows an autosomal dominant pattern of inheritance) is indicated in all CPVT patients. Screening of CASQ2 is indicated with evidence of recessive inheritance, in case of parental consanguinity and in case of negative RYR2 screening.
Links:
OMIM Entry - #611938 - VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 2; CPVT2
Orphanet- Catecholinergic polymorphic ventricular tachycardia
OMIM Entry - -114251 - CALSEQUESTRIN 2; CASQ2

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