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)
Deceased affected individual (proband) where all the following are met;
(i) the individual +/- family history meets one of the above criteria, AND
(ii) a previously stored constitutional blood/DNA or tissue sample (tumour or normal) is available,
AND
(iii) no living affected individual is available for genetic testing, AND
(iv) after discussion at specialist cancer genetics MDT
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
Referrals for testing will be triaged by the Genomic Laboratory; testing should be targeted at those where a
genetic or genomic diagnosis will guide management for the proband or family.
Likely to need to specify high coverage depth to detect mosaic SMARCB1 and SMARCA4 variants
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)
Deceased affected individual (proband) where all the following are met;
(i) the individual +/- family history meets one of the above criteria, AND
(ii) a previously stored constitutional blood/DNA or tissue sample (tumour or normal) is available,
AND
(iii) no living affected individual is available for genetic testing, AND
(iv) after discussion at specialist cancer genetics MDT
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
Referrals for testing will be triaged by the Genomic Laboratory; testing should be targeted at those where a
genetic or genomic diagnosis will guide management for the proband or family.
Likely to need to specify high coverage depth to detect mosaic SMARCB1 and SMARCA4 variants
Commissioning group
Specialised
Overlapping idications
• M120 Atypical teratoid/rhabdoid tumour (ATRT) should be used for somatic testing
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
Sample Requirements Each sample must be sent labelled with 3 patient identifiers and must state the sample type clearly on the sample container. Sample Rejection Samples may be rejected for the following reasons: 1. Samples and request form do not show at least three identical patient identifiers 2. The sample is in the incorrect collection media 3. The request form is not sufficiently completed 4. The sample is not of sufficient volume 5. The sample is too old Sample Storage and Volume Required: Perirpheral blood in an EDTA tube: Adult and children 4 ml, Infants (0-2 years) 1 ml or a DNA sample (3-5µg 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). Storage, sample packing and transportation: Blood should be stored at 4°C where possible. Send at room temperature by first class post or by courier. 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.