Clinical Indication ID & Name
Plasma Cell Dyscrasia
Test Group
Haematology
Specialties
Test code
M92.1
Test name
Multi-target NGS panel - small variant (KRAS, NRAS, BRAF, TP53, DIS3, TENT5C, IRF4)
Target genes
KRAS, NRAS, BRAF, TP53, DIS3, TENT5C, IRF4
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
M92.2
Test name
t(4;14) IGH-FGFR3FISH/RT-PCR
Target genes
IGH-FGFR3
Test scope
Structural variant detection
Test method/ technology
FISH/Simple targeted mutation testing
Optimal Family Structure
n/a
Eligibility Criteria
Molecular assessment will aid diagnosis or management
Test code
M92.3
Test name
t(6;14) IGH-CCND3 FISH/RT-PCR
Target genes
IGH-CCND3
Test scope
Structural variant detection
Test method/ technology
FISH/Simple targeted mutation testing
Optimal Family Structure
n/a
Eligibility Criteria
Molecular assessment will aid diagnosis or management
Test code
M92.4
Test name
t(11;14)(q13;q32) IGH-CCND1 FISH/RT-PCR
Target genes
IGH-CCND1
Test scope
Structural variant detection
Test method/ technology
FISH/Simple targeted mutation testing
Optimal Family Structure
n/a
Eligibility Criteria
Molecular assessment will aid diagnosis or management
Test code
M92.5
Test name
t(14;16) IGH-MAF FISH/RT-PCR
Target genes
IGH-MAF
Test scope
Structural variant detection
Test method/ technology
FISH/Simple targeted mutation testing
Optimal Family Structure
n/a
Eligibility Criteria
Molecular assessment will aid diagnosis or management
Test code
M92.6
Test name
t(14;20) IGH-MAFB FISH/RT-PCR
Target genes
IGH-MAFB
Test scope
Structural variant detection
Test method/ technology
FISH/Simple targeted mutation testing
Optimal Family Structure
n/a
Eligibility Criteria
Molecular assessment will aid diagnosis or management
Test code
M92.7
Test name
Multi-target NGS panel - structural variant (To include IGH-FGFR3, IGH-CCND3, IGH-CCND1, IGH-MAF, IGH-MAFB, MYC rearrangements)
Target genes
To include IGH-FGFR3, IGH-CCND3, IGH-CCND1, IGH-MAF, IGH-MAFB, MYC rearrangements
Test scope
Structural variant detection
Test method/ technology
Panel
Optimal Family Structure
n/a
Eligibility Criteria
Molecular assessment will aid diagnosis or management
Test code
M92.8
Test name
IGH rearrangement FISH
Target genes
IGH
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
M92.9
Test name
Hyperdiploidy copy number FISH
Target genes
Hyperdiploidy
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
M92.10
Test name
del(1p) copy number FISH
Target genes
del(1p) - CDKN2C
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
M92.11
Test name
gain(1q) copy number FISH
Target genes
gain(1q) - CKS1B
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
M92.12
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
Molecular assessment will aid diagnosis or management
Test code
M92.13
Test name
Multi-target NGS panel (To include hyperdiploidy, del(1p), gain(1q), del17p)
Target genes
Multiple chromosomes, Chr1p, Ch1q, Cr17p
Test scope
Copy number variant detection to genomewide resolution
Test method/ technology
Panel
Optimal Family Structure
n/a
Eligibility Criteria
Molecular assessment will aid diagnosis or management
Test code
M92.14
Test name
MYC rearrangement FISH
Target genes
MYC
Test scope
Structural variant detection
Test method/ technology
FISH
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