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
Please refer to the test request form.
Contact with queries
Supporting documents
n/a
Education resources
n/a
Service updates
n/a
Request form download
Form not available, please contact us to enquire.
Consent record
See consent guidance in test request form
Sample requirements
Sample Requirements Each sample must be sent labelled with 3 patient identifiers and must state the sample type clearly on the sample container. Sample Rejection 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 Sample Storage and Volume Required: Perirpheral blood in an EDTA tube: Adult and children 4 ml, Infants (0-2 years) 1 ml or a DNA sample (3-5µg of purified DNA). Where it is not possible to collect peripheral blood we will accept a saliva sample (please contact the lab for specific details). Storage, sample packing and transportation: Blood should be stored at 4°C where possible. Send at room temperature by first class post or by courier. Patient/Clinician Instructions: N/A Factors affecting performance of test/interpretation of results: Clotted samples are unsuitable for DNA analysis. Blood Samples in incorrect anticoagulant tubes may be rejected.