Clinical Indication ID & Name
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
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