Clinical Indication ID & Name
Chronic Lymphocytic Leukaemia
Test Group
Haematology
Specialties
Test code
M94.1
Test name
Multi-target NGS panel - small variant (TP53,BTK, PLCG2, BCL2)
Target genes
TP53, BTK, PLCG2, BCL2
Test scope
Small variant detection
Test method/ technology
Panel
Optimal Family Structure
n/a
Eligibility Criteria
Patient with CLL about to undergo treatment (NB can be any line of treatment)
Also in cases previously classified as B-PLL, now considered to be CLL/SLL which has undergone prolymphocytic progression, are also eligible for testing under this clinical indication.
Test code
M94.2
Test name
Multi-target NGS panel - copy number variant (TP53,ATM, DLEU2/7, RB1, trisomy 12)
Target genes
TP53, ATM, DLEU2/7, RB1, trisomy 12
Test scope
Copy number variant detection to exon level resolution
Test method/ technology
Panel/Array
Optimal Family Structure
n/a
Eligibility Criteria
Patient with CLL about to undergo treatment (NB can be any line of treatment)
Also in cases previously classified as B-PLL, now considered to be CLL/SLL which has undergone prolymphocytic progression, are also eligible for testing under this clinical indication.
Test code
M94.4
Test name
del(17p) TP53 copy number FISH
Target genes
TP53
Test scope
Copy number variant detection to genomewide resolution
Test method/ technology
FISH
Optimal Family Structure
n/a
Eligibility Criteria
Patient with CLL about to undergo treatment (NB can be any line of treatment)
Also in cases previously classified as B-PLL, now considered to be CLL/SLL which has undergone prolymphocytic progression, are also eligible for testing under this clinical indication.
Test code
M94.5
Test name
Ig gene (heavy & light chain) rearrangement & hypermutation detection multiplex seq
Target genes
IGH, IGK, IGL
Test scope
Complex variant detection
Test method/ technology
Complex targeted mutation testing
Optimal Family Structure
n/a
Eligibility Criteria
Patient with CLL about to undergo treatment (NB can be any line of treatment)
Test code
M94.6
Test name
Ig gene (heavy & light chain) rearrangement & hypermutation detection NGS
Target genes
IGH, IGK, IGL
Test scope
Complex variant detection
Test method/ technology
Panel
Optimal Family Structure
n/a
Eligibility Criteria
Patient with CLL about to undergo treatment (NB can be any line of treatment)
Test code
M94.7
Test name
TP53 seq
Target genes
TP53
Test scope
Small variant detection
Test method/ technology
Single gene sequencing
Optimal Family Structure
n/a
Eligibility Criteria
Patient with CLL about to undergo treatment (NB can be any line of treatment).
Also in cases previously classified as B-PLL, now considered to be CLL/SLL which has undergone prolymphocytic progression, are also eligible for testing under this clinical indication.
Test code
M94.8
Test name
11q copy number FISH
Target genes
ATM
Test scope
Copy number variant detection to genomewide resolution
Test method/ technology
FISH
Optimal Family Structure
n/a
Eligibility Criteria
Patient with CLL about to undergo treatment (NB can be any line of treatment)
Test code
M94.9
Test name
13q copy number FISH
Target genes
RB1
Test scope
Copy number variant detection to genomewide resolution
Test method/ technology
FISH
Optimal Family Structure
n/a
Eligibility Criteria
Patient with CLL about to undergo treatment (NB can be any line of treatment)
Test code
M94.10
Test name
chromosome 12 copy number FISH
Target genes
chr12
Test scope
Copy number variant detection to genomewide resolution
Test method/ technology
FISH
Optimal Family Structure
n/a
Eligibility Criteria
Patient with CLL about to undergo treatment (NB can be any line of treatment)
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