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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

M18

Renal Cell Carcinoma - Adult

Test Group

Solid Tumours (Adult)

Specialties

Test code

M18.1

Test name

TFE3 rearrangement FISH/RT-PCR

Target genes

TFE3

Test scope

Structural variant detection

Test method/ technology

FISH/Simple targeted mutation testing

Optimal Family Structure

n/a

Eligibility Criteria

When making the diagnosis of a MiT family translocation tumour is relevant for patient treatment – i.e. owing to risk of early LN metastases or for potential use of MTOR inhibitors

Test code

M18.2

Test name

Multi-target NGS panel small variant (FH, SDHA, SDHB, SDHC, SDHD, VHL, ELOC (TCEB-1), TSC1/2, MET, BRAF)

Target genes

FH, SDHA, SDHB, SDHC, SDHD, VHL, ELOC (TCEB-1), TSC1/2, MET, BRAF

Test scope

Small variant detection

Test method/ technology

Panel

Optimal Family Structure

n/a

Eligibility Criteria

FH – following on from suggestive immuno for cases where suggestive of mutation but no germline FH mutation found / SDH following on from suggestive immuno for cases where suggestive of mutation but no germline SDH mutation found / VHL – when suspected clear cell carcinoma but aberrant morphology meaning diagnosis on morphological grounds alone is problematic / TCEB-1 morphologically suggestive of non-VHL clear cell tumour where making diagnosis would alter management / TSC1/2 – when morphology suggests that mutation in one of the these genes may be present / MET – when morphology suggests a type 1 papillary RCC and it is relevant to patient management to make this specific diagnosis / BRAF – if morphology does not allow distinction between metanephric adenoma and type 1 papillary RCC

Test code

M18.3

Test name

Chromosome 3 FISH

Target genes

Chromosome 3

Test scope

Structural variant detection / Copy number variant detection to genomewide resolution

Test method/ technology

FISH

Optimal Family Structure

n/a

Eligibility Criteria

When the morphology does not confirm a diagnosis of a suspected clear cell renal carcinoma and making a definitive diagnosis will assist in patient management

Test code

M18.4

Test name

Chromosome 8 FISH

Target genes

Chromosome 8

Test scope

Copy number variant detection to genomewide resolution

Test method/ technology

FISH

Optimal Family Structure

n/a

Eligibility Criteria

When morphologically suggestive of non-VHL clear cell tumour where making specific diagnosis would alter management

Test code

M18.5

Test name

Chromosome 7 & 17 FISH

Target genes

Chromosome 7 & 17

Test scope

Copy number variant detection to genomewide resolution

Test method/ technology

FISH

Optimal Family Structure

n/a

Eligibility Criteria

When morphology does not make a clear diagnosis of a suspected papillary RCC

Test code

M18.6

Test name

Multi-target NGS panel - structural variant (NTRK1, NTRK2, NTRK3, TFE3, TFEB)

Target genes

NTRK1, NTRK2, NTRK3, TFE3, TFEB

Test scope

Structural variant detection

Test method/ technology

Panel

Optimal Family Structure

n/a

Eligibility Criteria

Patient’s clinical status means they are eligible for an NTRK inhibitor in the event an NTRK rearrangement is detected

Test code

M18.7

Test name

TFEB rearrangement FISH/RT-PCR

Target genes

TFEB

Test scope

Structural variant detection

Test method/ technology

Panel

Optimal Family Structure

n/a

Eligibility Criteria

When making the diagnosis of a MiT family translocation tumour is relevant for patient treatment – i.e. owing to risk of early LN metastases or for potential use of MTOR inhibitors

Commissioning group

n/a

Overlapping idications

n/a

Address for samples/request forms

Cancer Genetics
Genetics Laboratories
5th Floor Tower Wing
Guy’s Hospital
Great Maze Pond
London
SE1 9RT

Contact with queries

gst-tr.gtabsoutheastglh@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

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