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
Genetics Laboratory
5th Floor Tower Wing
Guy’s Hospital
London
SE1 9RT
Contact with queries
Supporting documents
n/a
Education resources
n/a
Turn around times
All our turnaround times are listed on our specific turn around page https://southeastgenomics.nhs.uk/professionals/service-turn-around-times/
Request form download
Consent record
See consent guidance in test request form
Sample requirements
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