Clinical Indication ID & Name
Primary Mediastinal B Cell Lymphoma
Test Group
Haematology
Specialties
Test code
M100.1
Test name
CD274, PDCD1LG2 rearrangement FISH
Target genes
CD274, PDCD1LG2
Test scope
Structural variant detection
Test method/ technology
FISH
Optimal Family Structure
n/a
Eligibility Criteria
Molecular assessment will aid diagnosis or management
Test code
M100.2
Test name
CD274, PDCD1LG2 Copy number FISH
Target genes
CD274, PDCD1LG2
Test scope
Copy number variant detection to genomewide resolution
Test method/ technology
FISH
Optimal Family Structure
n/a
Eligibility Criteria
Molecular assessment will aid diagnosis or management
Test code
M100.3
Test name
REL copy number FISH
Target genes
REL
Test scope
Structural variant detection
Test method/ technology
FISH
Optimal Family Structure
n/a
Eligibility Criteria
Molecular assessment will aid diagnosis or management
Test code
M100.4
Test name
WGS Germline and Tumour
Target genes
All including burden / signature
Test scope
All variant types
Test method/ technology
WGS
Optimal Family Structure
n/a
Eligibility Criteria
For paediatric patients only
Test code
M100.5
Test name
Multi-target NGS panel - copy number variant (CD274, PDCD1LG2, REL)
Target genes
CD274, PDCD1LG2, REL
Test scope
Copy number variant detection to exon level resolution
Test method/ technology
Panel
Optimal Family Structure
n/a
Eligibility Criteria
Molecular assessment will aid diagnosis or management
Test code
M100.6
Test name
Multi-target NGS panel - rearrangement (CD274, PDCD1LG2)
Target genes
CD274, PDCD1LG2
Test scope
Structural variant detection
Test method/ technology
Panel
Optimal Family Structure
n/a
Eligibility Criteria
Molecular assessment will aid diagnosis or management
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
Cancer WGS Clinician pack
Education resources
n/a
Service updates
n/a
Request form download
n/a
Consent record
See consent guidance in test request form
Sample requirements
See sample guidance in test request form