Clinical Indication ID & Name
Childhood solid tumours
Test Group
Inherited cancer
Specialties
Test code
R359.1
Test name
N/A
Target genes
Tumour predisposition - childhood onset (243)
Test scope
n/a
Test method/ technology
WES or Medium panel
Optimal Family Structure
n/a
Eligibility Criteria
Any presentation of an invasive solid tumour diagnosed at age ≤ 18 , where no other Testing Criteria are met, OR other test did not identify pathogenic variant, AND the patient has NOT been investigated through:
1. Tumour WGS, OR
2. Another large germline cancer susceptibility panel, OR
3. Exome test through GMS or an alternative route
Genetic testing may occasionally be appropriate outside these criteria following discussion at a specialist MDT with a cancer geneticist present
Test code
R359.2
Test name
N/A
Target genes
Tumour predisposition - childhood onset (243)
Test scope
n/a
Test method/ technology
Exon level CNV detection by MLPA or equivalent
Optimal Family Structure
n/a
Eligibility Criteria
Any presentation of an invasive solid tumour diagnosed at age ≤ 18 , where no other Testing Criteria are met, OR other test did not identify pathogenic variant, AND the patient has NOT been investigated through:
1. Tumour WGS, OR
2. Another large germline cancer susceptibility panel, OR
3. Exome test through GMS or an alternative route
Genetic testing may occasionally be appropriate outside these criteria following discussion at a specialist MDT with a cancer geneticist present
Commissioning group
Specialised
Overlapping idications
• The associated paediatric cancer clinical indication (M coded) should be used for somatic testing
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
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