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
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