Request / Find a Test Tool

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

This tool allows clinical teams to search all of the genomic tests available to patients through the National Testing Directory. From here you can find out more details about each test and information about how to order them. These tests can only be ordered by clinical teams, if you are a patient looking to request a test please speak to your clinical team directly.

Sudden unexplained death or survivors of a cardiac event

Clinical Indication ID & Name

R138

Sudden unexplained death or survivors of a cardiac event

Test Group

Cardiology

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

gos-tr.norththamesgenomics@nhs.net

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