Clinical Indication ID & Name
Melanoma - Adult
Test Group
Solid Tumours (Adult)
Specialties
Test code
M7.1
Test name
Multi-target NGS panel - small variant (BRAF, KIT, NRAS)
Target genes
BRAF, KIT, NRAS
Test scope
Small variant detection
Test method/ technology
Panel
Optimal Family Structure
n/a
Eligibility Criteria
Primary melanomas at high risk of recurrence i.e. stage 2C / 3 / 4 (metastatic)
Test code
M7.2
Test name
BRAF hotspot
Target genes
BRAF
Test scope
Small variant detection
Test method/ technology
Simple targeted variant testing
Optimal Family Structure
n/a
Eligibility Criteria
Primary melanomas at high risk of recurrence i.e. stage 2C / 3 / 4 (metastatic), , in rare cases where this cannot be delivered by panel testing NB will be subject to close audit
Test code
M7.3
Test name
Multi-target NGS panel - structural variant (NTRK1, NTRK2, NTRK3)
Target genes
NTRK1, NTRK2, NTRK3
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
M7.5
Test name
MYB & 6cen
Target genes
6q24
Test scope
Copy number variant detection
Test method/ technology
FISH
Optimal Family Structure
n/a
Eligibility Criteria
Molecular assessment will aid diagnosis or management of equivocal melanocytic lesions of the skin
Test code
M7.6
Test name
RREB1 (6p25)
Target genes
6p25
Test scope
Copy number variant detection
Test method/ technology
FISH
Optimal Family Structure
n/a
Eligibility Criteria
Molecular assessment will aid diagnosis or management of equivocal melanocytic lesions of the skin
Test code
M7.7
Test name
CCND1 (11q13)
Target genes
11q13
Test scope
Copy number variant detection
Test method/ technology
FISH
Optimal Family Structure
n/a
Eligibility Criteria
Molecular assessment will aid diagnosis or management of equivocal melanocytic lesions of the skin
Test code
M7.8
Test name
MYC & 8cen
Target genes
8q24
Test scope
Copy number variant detection
Test method/ technology
FISH
Optimal Family Structure
n/a
Eligibility Criteria
Molecular assessment will aid diagnosis or management of equivocal melanocytic lesions of the skin
Test code
M7.9
Test name
CDKN2A & 9cen
Target genes
9p21
Test scope
Copy number variant detection
Test method/ technology
FISH
Optimal Family Structure
n/a
Eligibility Criteria
Molecular assessment will aid diagnosis or management of equivocal melanocytic lesions of the skin
Test code
M7.10
Test name
Copy number variant detection to genomewide resolution
Target genes
MYB, RREB1, CCND1, MYC, CDKN2A
Test scope
Copy number variant detection
Test method/ technology
Microarray
Optimal Family Structure
n/a
Eligibility Criteria
Molecular assessment will aid diagnosis or management of equivocal melanocytic lesions of the skin
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
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