Clinical Indication ID & Name

R441

Unexplained death in infancy and sudden unexplained death in childhood WGS

Test Group

Specialties

Clinical Genetics Paediatrics

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

Optimal Family Structure

n/a

Eligibility Criteria

1. Sudden death in child less than 18 years that remains unexplained after the standard investigation protocols including post mortem AND
2. DNA available from proband and both biological parents for trio WGS analysis OR
3. DNA available from proband and one biological parent only
Where in Pathway
After standard SIDS/SUDC protocol including post mortem have been completed. Following specialist MDT discussion of patients that may be suitable for WGS (including eg. 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

Request form download

Rare Disease Order Form Record of Discussion Form

Consent record

See consent guidance in test request form

Sample requirements

EDTA

Order or find a test

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