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 (≤ 40 years), OR
2. Type 2 papillary renal cancer (≤50 years), OR
3. Bilateral/multifocal renal cancer (any age), OR
4. Renal cancer AND first / second degree relative with renal cancer, both cases diagnosed under 50 years of age
5. 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 mutation)
o Mesothelioma
o Uveal melanoma
Deceased affected individual (proband) where (i) the individual +/- family history meets one of the above criteria, (ii) appropriate tissue is available (tumour or normal), and (iii) no living affected individual is available for genetic testing
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
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 (≤ 40 years), OR
2. Type 2 papillary renal cancer (≤50 years), OR
3. Bilateral/multifocal renal cancer (any age), OR
4. Renal cancer AND first / second degree relative with renal cancer, both cases diagnosed under 50 years of age
5. 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 mutation)
o Mesothelioma
o Uveal melanoma
Deceased affected individual (proband) where (i) the individual +/- family history meets one of the above criteria, (ii) appropriate tissue is available (tumour or normal), and (iii) no living affected individual is available for genetic testing
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
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
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