Clinical Indication ID & Name
Inherited renal cancer
Test Group
Inherited cancer
Specialties
Test code
R224.1
Test name
N/A
Target genes
Inherited renal cancer (521)
Test scope
n/a
Test method/ technology
Small panel
Optimal Family Structure
n/a
Eligibility Criteria
Testing of individual (proband) affected with renal cancer where the individual +/- family history meets one of the following criteria. The proband has
1. Renal cancer (≤ 46 years), OR
2. Type 2 papillary HLRCC associated RCC (WHO pathology definition) OR tubulo-papillary renal tumour at any age , OR
3. Bilateral/multifocal renal cancer (any age), OR
4. A renal cancer AND first degree relative with renal cancer, both cases diagnosed under 60 years of age
5. renal cancer AND second degree relative with renal cancer, both cases diagnosed under 50 years of age
6. Renal cancer and features of inherited cancer syndrome such as:
o Cerebellar/spinal haemangioblastoma
o Retinal angioma
o Phaeochromocytoma/paraganglioma
o Spontaneous pneumothorax
o Fibrofolliculomas
o Trichodiscomas
o Cutaneous Leiomyomata
o Uterine leiomyomas (under 40 years of age with pathology suggesting FH variant)
o Mesothelioma
o Uveal melanoma
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
Referral to Clinical Genetics is required for karyotype in families with ≥3 FDR/SDR with renal cancer following MDT discussion
NOTE: The proband’s cancer and majority of reported cancers in the family 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.
Test code
R224.2
Test name
N/A
Target genes
FLCN;VHL
Test scope
n/a
Test method/ technology
MLPA or equivalent
Optimal Family Structure
n/a
Eligibility Criteria
Testing of individual (proband) affected with renal cancer where the individual +/- family history meets one of the following criteria. The proband has
1. Renal cancer (≤ 46 years), OR
2. Type 2 papillary HLRCC associated RCC (WHO pathology definition) OR tubulo-papillary renal tumour at any age , OR
3. Bilateral/multifocal renal cancer (any age), OR
4. A renal cancer AND first degree relative with renal cancer, both cases diagnosed under 60 years of age
5. renal cancer AND second degree relative with renal cancer, both cases diagnosed under 50 years of age
6. Renal cancer and features of inherited cancer syndrome such as:
o Cerebellar/spinal haemangioblastoma
o Retinal angioma
o Phaeochromocytoma/paraganglioma
o Spontaneous pneumothorax
o Fibrofolliculomas
o Trichodiscomas
o Cutaneous Leiomyomata
o Uterine leiomyomas (under 40 years of age with pathology suggesting FH variant)
o Mesothelioma
o Uveal melanoma
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
Referral to Clinical Genetics is required for karyotype in families with ≥3 FDR/SDR with renal cancer following MDT discussion
NOTE: The proband’s cancer and majority of reported cancers in the family 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.
Commissioning group
Specialised
Overlapping idications
• M18 Renal cell carcinoma or the associated paediatric cancer clinical indication (M173, M180, M165, M212) 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.
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.