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The National Genomic Test Directories specify which genomic tests are commissioned by the NHS in England, to be delivered by Genomic Laboratory Hubs.

Clinical Indication ID & Name

R224

Inherited renal cancer

Test Group

Inherited cancer

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

Genetics Laboratory
5th Floor Tower Wing
Guy’s Hospital
London
SE1 9RT

Contact with queries

gst-tr.southeastglh@nhs.net

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/

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