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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

R441

Unexplained death in infancy and sudden unexplained death in childhood WGS

Test Group

Cardiology

Test code

R441.1

Test name

N/A

Target genes

Unexplained death in infancy and sudden unexplained death in childhood (1220)

Test scope

n/a

Test method/ technology

WGS (update the link to the TOF)

Optimal Family Structure

n/a

Eligibility Criteria

1. Sudden death in child less than 18 years that remains unexplained after the standard investigation protocols, Joint Agency Response (JAR) review of circumstances of death and post-mortem AND
2. Confirmation from requesting clinician that 1. is fulfilled AND
o DNA is available from proband and both biological parents for trio WGS analysis OR
o Where only one parent, or neither parents, are available for testing then testing the deceased infant/child may proceed in exceptional circumstances. A discussion is required between the clinical team involved and the testing laboratory to consider the most appropriate testing approach and how to proceed.

Test Exclusion; Testing should not be performed where the likelihood of a monogenic disorder is low, for example where the available evidence supports a non-genetic cause of death (e.g. severe infection, suspicious death/homicide investigation).
Where in Pathway
Statutory Child Death Review Process for all unexpected deaths includes Joint Agency Response (JAR) review of medical and family history, and circumstances of death.
After standard SIDS/SUDC protocol including JAR review and post-mortem have been completed. Following specialist MDT discussion of patients that may be suitable for WGS (including e.g. pathology, designated doctor for child deaths, clinical genetics as appropriate). Consent will need to be obtained from family.

Commissioning group

Specialised

Overlapping idications

n/a

Address for samples/request forms

South East GLH
Genetics Specimen Reception
5th floor Tower Wing
Guy’s Hospital
London
SE1 9RT

Contact with queries

Supporting documents

n/a

Education resources

n/a

Turn around times

n/a

Consent record

See consent guidance in test request form

Sample requirements

EDTA Sample Storage and Volume Required: 1. Peripheral blood in an EDTA tube: Adult and children 4 ml, Infants (0-2 years) 1 ml or a DNA sample (1-7µg 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). 2. Bone marrow sample in EDTA tube, cell count must be provided. 3. Cultured Fibroblasts in medium 4. Fresh tissue with at least 30% tumour cell content: Adequate sample sizes include 5mm x 5mm x 2mm tissue or 15mm x 2mm needle core biopsy. Multiple biopsies recommended if clinically feasible. Tissue should be embedded in OCT or preserved in RNA Later where appropriate 5. Extracted DNA , 1 μg to 7.2 μg depending on WGS pathway. Storage, sample packing and transportation: Blood and bone marrow samples should be stored at 4°C whenever possible and sent at room temperature via first-class post or courier. Tissue samples preserved in RNA Later can be shipped at room temperature, while fresh tissue samples must be shipped on ice/dry ice. All samples should arrive at the laboratory within 24 hours of collection. 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.