Order or find a test

The National Genomic Test Directories specify which genomic tests are commissioned by the NHS in England, to be delivered by Genomic Laboratory Hubs.

Clinical Indication ID & Name

R129

Catecholaminergic polymorphic VT

Test Group

Cardiology

Specialties

Cardiology Clinical Genetics

Test code

R129.1

Test name

N/A

Target genes

Catecholaminergic polymorphic VT (214)

Test scope

n/a

Test method/ technology

Small panel

Optimal Family Structure

n/a

Eligibility Criteria

A firm clinical diagnosis of CPVT based on one of the following:
1. A structurally normal heart, normal ECG, and unexplained exercise or catecholamine-induced bidirectional VT or polymorphic ventricular premature beats or VT/VF in an individual under 40 years of
age, OR
2. A patient with a structurally normal heart who manifests exercise-induced premature ventricular contractions (PVCs) or bidirectional/polymorphic VT/VF, with a positive family history of CPVT, where a symptomatic family member is unavailable for testing, OR
3. A structurally normal heart and coronary arteries, normal ECG, and unexplained exercise or catecholamine-induced bidirectional VT or polymorphic ventricular premature beats or VT/VF in an individual over 40 years of age

Testing should be carried out in parallel with expert phenotypic assessment, for example in an Inherited Cardiac Clinic (ICC), including support from clinical genetics; testing may occasionally be appropriate outside these criteria following discussion in an ICC MDT.

Test code

R129.2

Test name

N/A

Target genes

Catecholaminergic polymorphic VT (214)

Test scope

n/a

Test method/ technology

Exon level CNV detection by MLPA or equivalent

Optimal Family Structure

n/a

Eligibility Criteria

A firm clinical diagnosis of CPVT based on one of the following:
1. A structurally normal heart, normal ECG, and unexplained exercise or catecholamine-induced bidirectional VT or polymorphic ventricular premature beats or VT/VF in an individual under 40 years of
age, OR
2. A patient with a structurally normal heart who manifests exercise-induced premature ventricular contractions (PVCs) or bidirectional/polymorphic VT/VF, with a positive family history of CPVT, where a symptomatic family member is unavailable for testing, OR
3. A structurally normal heart and coronary arteries, normal ECG, and unexplained exercise or catecholamine-induced bidirectional VT or polymorphic ventricular premature beats or VT/VF in an individual over 40 years of age

Testing should be carried out in parallel with expert phenotypic assessment, for example in an Inherited Cardiac Clinic (ICC), including support from clinical genetics; testing may occasionally be appropriate outside these criteria following discussion in an ICC MDT.

Commissioning group

Specialised

Overlapping idications

n/a

Address for samples/request forms

Clinical Genetics & Genomics Laboratory
Royal Brompton Hospital
2nd (Ground) Floor, Sydney Wing
Sydney Street
London SW3 6NP

Contact with queries

rbh-tr.genomics@nhs.net / geneticslab@rbht.nhs.uk

Supporting documents

n/a

Education resources

n/a

Turn around times

All our turnaround times are listed on our specific turn around page https://southeastgenomics.nhs.uk/professionals/service-turn-around-times/

Request form download

Cardiology and Respiratory Order Form Record of Discussion Form

Consent record

See consent guidance in test request form

Sample requirements

Samples may be rejected for the following reasons: 1.Samples and request form do not show at least three identical patient identifiers 2.The sample is in the incorrect collection media 3.The request form is not sufficiently completed 4.The sample is not of sufficient volume 5.The sample is too old