Clinical Indication ID & Name
Catecholaminergic polymorphic VT
Test Group
Cardiology
Specialties
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
North Thames GLH, Rare & Inherited Disease Genomic Laboratory
Specimen Reception, Level 5 Barclay House, 37 Queen Square,
London WC1N 3BH
Contact with queries
Supporting documents
n/a
Education resources
n/a
Service updates
n/a
Request form download
Consent record
See consent guidance in test request form
Sample requirements
See sample guidance in test request form