Clinical Indication ID & Name
Uveal melanoma
Test Group
Solid Tumours (Adult)
Specialties
Test code
M187.1
Test name
1p, 3, 6, 8 MLPA
Target genes
1p, 3, 6, 8
Test scope
Copy number variant detection to exon level resolution
Test method/ technology
MLPA or equivalent
Optimal Family Structure
n/a
Eligibility Criteria
Molecular assessment will aid diagnosis or management
Test code
M187.2
Test name
BRAF hotspot
Target genes
BRAF
Test scope
Small variant detection
Test method/ technology
Simple targeted mutation testing
Optimal Family Structure
n/a
Eligibility Criteria
Molecular assessment will aid diagnosis or management
Test code
M187.3
Test name
Multi-target NGS panel - small variant (BRAF, NRAS, NF1)
Target genes
BRAF, NRAS, NF1
Test scope
Small variant detection
Test method/ technology
Panel
Optimal Family Structure
n/a
Eligibility Criteria
Molecular assessment will aid diagnosis or management
Test code
M187.4
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
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