Catecholaminergic Polymorphic Ventricular Tachycardia (CPVT)

Introduction

We simultaneously sequence 5 genes known to cause catecholaminergic polymorphic ventricular tachycardia (CPVT). We provide a comprehensive scientific interpretation of variants found and issue a report summarising our findings.

Referral information

For individuals with clinical features consistent with catecholaminergic polymorphic ventricular tachycardia (CPVT) – (ECG normal, exercise ECG with bidirectional ventricular tachycardia reproducibly elicited during adrenergic stimulation). On identification of a pathogenic change in an index case presymptomatic testing of relatives can be offered. Referrals for testing are only accepted from a Consultant Cardiologist or a Consultant Clinical Geneticist (please contact the Clinical Genetics department for specific information). Referrals should be accompanied by a clinical diagnosis and details of family history. Referrals should also be accompanied by a completed standard referral form available in the Referral Forms section. For optimal results please send a fresh EDTA blood sample (1-4ml) or a minimum of 5µg of extracted DNA. For a full list of genes included in the assay please contact the laboratory.

Price & reporting times

Please contact the laboratory for prices.

Test	Price (NHS)	Price (non-NHS)	TRT
CPVT (5 gene) panel	POA	POA	112cd
Bioinformatic Re-analysis	POA	POA

Test validation & quality assurance - information for users

The laboratory is UKAS assessed against ISO 15189 standards.

Referral guidelines

Please see our referral guidelines for more information.

OMIM Number(s) - 114180, 114251, 600681, 180902, 603283

Gene(s) - CALM1, CASQ2, KCNJ2, RYR2, TRDN