Clinical Indication ID & Name
Unexplained death in infancy and sudden unexplained death in childhood WGS
Test Group
Specialties
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 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
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
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.