Clinical Indication ID & Name
Testing of unaffected individuals for inherited cancer predisposition syndromes
Test Group
Inherited cancer
Specialties
Test code
R422.1
Test name
N/A
Target genes
As dictated by clinical indication
Test scope
n/a
Test method/ technology
Single gene sequencing >=10 amplicons
Optimal Family Structure
n/a
Eligibility Criteria
Germline testing of unaffected individuals for specific inherited cancer predisposition syndromes where the following criteria are met:
1. There are no living affected relatives available for testing, AND
2. Any applicable somatic testing on deceased relatives tumour samples has been performed first, AND
3. The individual to be tested is deemed to have ≥10% chance of having a mutation (deceased first degree relative with ≥20% chance), AND
4. This is agreed by specialist cancer genetics MDT
For testing for hereditary breast and ovarian cancer and inherited MMR deficiency (Lynch syndrome),
unaffected individuals must meet criteria as specified under relevant indications R208/R215
NOTE: All cancers must be confirmed
Genetic testing may occasionally be appropriate outside these criteria following discussion at a specialist MDT with a cancer geneticist present
Test code
R422.2
Test name
N/A
Target genes
As per appropriate inherited cancer indication
Test scope
n/a
Test method/ technology
Exon level CNV detection by MLPA or equivalent
Optimal Family Structure
n/a
Eligibility Criteria
Germline testing of unaffected individuals for specific inherited cancer predisposition syndromes where the following criteria are met:
1. There are no living affected relatives available for testing, AND
2. Any applicable somatic testing on deceased relatives tumour samples has been performed first, AND
3. The individual to be tested is deemed to have ≥10% chance of having a mutation (deceased first degree relative with ≥20% chance), AND
4. This is agreed by specialist cancer genetics MDT
For testing for hereditary breast and ovarian cancer and inherited MMR deficiency (Lynch syndrome),
unaffected individuals must meet criteria as specified under relevant indications R208/R215
NOTE: All cancers must be confirmed
Genetic testing may occasionally be appropriate outside these criteria following discussion at a specialist MDT with a cancer geneticist present
Test code
R422.3
Test name
N/A
Target genes
Relevant inherited cancer panel
Test scope
n/a
Test method/ technology
Small panel
Optimal Family Structure
n/a
Eligibility Criteria
Germline testing of unaffected individuals for specific inherited cancer predisposition syndromes where the following criteria are met:
1. There are no living affected relatives available for testing, AND
2. Any applicable somatic testing on deceased relatives tumour samples has been performed first, AND
3. The individual to be tested is deemed to have ≥10% chance of having a mutation (deceased first degree relative with ≥20% chance), AND
4. This is agreed by specialist cancer genetics MDT
For testing for hereditary breast and ovarian cancer and inherited MMR deficiency (Lynch syndrome),
unaffected individuals must meet criteria as specified under relevant indications R208/R215
NOTE: All cancers must be confirmed
Genetic testing may occasionally be appropriate outside these criteria following discussion at a specialist MDT with a cancer geneticist present
Commissioning group
Core/Specialised
Overlapping idications
n/a
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