Clinical Indication ID & Name
Familial rhabdoid tumours
Test Group
Inherited cancer
Specialties
Test code
R358.1
Test name
N/A
Target genes
Rhabdoid tumour predisposition (600)
Test scope
n/a
Test method/ technology
Small panel
Optimal Family Structure
n/a
Eligibility Criteria
Living affected individual (proband) where the proband has atypical teratoid/rhabdoid tumour (any age) OR
Small cell carcinoma of the ovary, hypercalcaemic type (SCCOHT) (any age)
NOTE: The proband’s cancer should have been confirmed
Genetic testing may occasionally be appropriate outside these criteria following discussion at a specialist MDT with a cancer geneticist present
Likely to need to specify high coverage depth to detect mosaic SMARCB1 and SMARCA4 mutations
Test code
R358.2
Test name
N/A
Target genes
Rhabdoid tumour predisposition (600)
Test scope
n/a
Test method/ technology
Exon level CNV detection by MLPA or equivalent
Optimal Family Structure
n/a
Eligibility Criteria
Living affected individual (proband) where the proband has atypical teratoid/rhabdoid tumour (any age) OR
Small cell carcinoma of the ovary, hypercalcaemic type (SCCOHT) (any age)
NOTE: The proband’s cancer should have been confirmed
Genetic testing may occasionally be appropriate outside these criteria following discussion at a specialist MDT with a cancer geneticist present
Likely to need to specify high coverage depth to detect mosaic SMARCB1 and SMARCA4 mutations
Commissioning group
Specialised
Overlapping idications
• M120 Atypical teratoid/rhabdoid tumour (ATRT) 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