Clinical Indication ID & Name
Sudden unexplained death or survivors of a cardiac event
Test Group
Cardiology
Specialties
Test code
R38.1
Test name
N/A
Target genes
Sudden cardiac death (841)
Test scope
n/a
Test method/ technology
WES or Medium Panel
Optimal Family Structure
n/a
Eligibility Criteria
1. Sudden death with normal Post Mortem below the age of 40, OR
2. Sudden death with normal Post Mortem below the age of 60, with a family history of unexplained sudden death under the age of 40 in a first / second degree relative (in whom no Post Mortem was carried out), OR
3. Sudden death with normal Post Mortem below the age of 60, with a family history of unexplained sudden death under the age of 60 in a first / second degree relative (where the relative also had a normal Post Mortem)
Where available, the Post Mortem should include assessment by an expert in cardiac autopsy. Where a cause can be identified via Post Mortem or through clinical assessment of surviving relatives, the appropriate specific Clinical Indication for testing should be used.
Testing should be carried out in parallel with assessment of surviving relatives 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 or an opinion from an expert in cardiac autopsy.
Survivors of proven cardiac arrest (idiopathic ventricular fibrillation) with:
1. no phenotype detectable on comprehensive evaluation including coronary assessment, cardiac imaging and ECG provocation testing (idiopathic ventricular fibrillation) AND
2. under the age of 45.
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
R138.2
Test name
N/A
Target genes
Sudden cardiac death (841)
Test scope
n/a
Test method/ technology
Exon level CNV detection by MLPA or equivalent
Optimal Family Structure
n/a
Eligibility Criteria
1. Sudden death with normal Post Mortem below the age of 40, OR
2. Sudden death with normal Post Mortem below the age of 60, with a family history of unexplained sudden death under the age of 40 in a first / second degree relative (in whom no Post Mortem was carried out), OR
3. Sudden death with normal Post Mortem below the age of 60, with a family history of unexplained sudden death under the age of 60 in a first / second degree relative (where the relative also had a normal Post Mortem)
Where available, the Post Mortem should include assessment by an expert in cardiac autopsy. Where a cause can be identified via Post Mortem or through clinical assessment of surviving relatives, the appropriate specific Clinical Indication for testing should be used.
Testing should be carried out in parallel with assessment of surviving relatives 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 or an opinion from an expert in cardiac autopsy.
Survivors of proven cardiac arrest (idiopathic ventricular fibrillation) with:
1. no phenotype detectable on comprehensive evaluation including coronary assessment, cardiac imaging and ECG provocation testing (idiopathic ventricular fibrillation) AND
2. under the age of 45.
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
Rare Disese WGS Clinician pack
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