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
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