Clinical Indication ID & Name
Myelodysplasia
Test Group
Haematology
Specialties
Test code
M82.1
Test name
Multi-target NGS panel - small variant (TP53, SF3B1, IDH1, IDH2, NRAS, KRAS, TET2, SRSF2, ASXL1, DNMT3A, RUNX1, U2AF1, EZH2, BCOR, PTPN11, JAK2, SETBP1, PPM1D, DDX41, PHF6, CUX1, UBA1)
Target genes
TP53, SF3B1, IDH1, IDH2, NRAS, KRAS, TET2, SRSF2, ASXL1, DNMT3A, RUNX1, U2AF1, EZH2, BCOR, PTPN11, JAK2, SETBP1, PPM1D, DDX41, PHF6, CUX1, UBA1
Test scope
Small variant detection
Test method/ technology
Panel
Optimal Family Structure
n/a
Eligibility Criteria
Molecular assessment will aid diagnosis or management. Known or suspected / high risk for the development of myelodysplasia
Test code
M82.2
Test name
Karyotype (To include detection of complex karyotype, -7/del7q, -5/del5q, i(17q)/t(17p), -13/del13q, del11q, del12p/t(12p), del9q, del17/del17p & idic(X)(q13)); -Y; del 20q; +8; +19,(inv(3)/t(3q)/del(3q))
Target genes
To include detection of complex karyotype, -7/del7q, -5/del5q, i(17q)/t(17p), -13/del13q, del11q, del12p/t(12p), del9q, del17/del17p & idic(X)(q13);-Y; del 20q; +8; +19,(inv(3)/t(3q)/del(3q))
Test scope
Copy number variant detection to genomewide resolution; Structural variant detection
Test method/ technology
Karyotype or equivalent
Optimal Family Structure
n/a
Eligibility Criteria
Molecular assessment will aid diagnosis or management. Known or suspected / high risk for the development of myelodysplasia
Test code
M82.4
Test name
FISH copy number and rearrangement Other: See tests M82.7 -M82.22 for individual specified FISH targets.
Target genes
Other: See tests M82.7 -M82.22 for individual specified FISH targets.
Test scope
Copy number variant detection to genomewide resolution; Structural variant detection
Test method/ technology
FISH
Optimal Family Structure
n/a
Eligibility Criteria
Molecular assessment will aid diagnosis or management. Known or suspected / high risk for the development of myelodysplasia
Test code
M82.6
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
Paediatric cases only.
Test code
M82.7
Test name
Chr7/Chr7q copy number FISH
Target genes
Chr7/chr7q
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. Known or suspected / high risk for the development of myelodysplasia
Test code
M82.8
Test name
Chr5/Chr5q copy number FISH
Target genes
chr5/chr5q
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. Known or suspected / high risk for the development of myelodysplasia
Test code
M82.9
Test name
i(17q)/t(17p) FISH
Target genes
Chr17/chr17p
Test scope
Structural variant detection
Test method/ technology
FISH
Optimal Family Structure
n/a
Eligibility Criteria
Molecular assessment will aid diagnosis or management. Known or suspected / high risk for the development of myelodysplasia
Test code
M82.10
Test name
Chr13/Chr13q copy number FISH
Target genes
Chr13/chr13q
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. Known or suspected / high risk for the development of myelodysplasia
Test code
M82.11
Test name
Chr11q copy number FISH
Target genes
Chr11q
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. Known or suspected / high risk for the development of myelodysplasia
Test code
M82.12
Test name
Chr12p copy number FISH, t(12p) rearrangement FISH
Target genes
Chr12p
Test scope
Copy number variant detection to genomewide resolution; Structural variant detection
Test method/ technology
FISH
Optimal Family Structure
n/a
Eligibility Criteria
Molecular assessment will aid diagnosis or management. Known or suspected / high risk for the development of myelodysplasia
Test code
M82.13
Test name
Chr9q copy number FISH
Target genes
Chr9q
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. Known or suspected / high risk for the development of myelodysplasia
Test code
M82.14
Test name
Chr17/Chr17p copy number FISH
Target genes
Chr17/Chr17p
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. Known or suspected / high risk for the development of myelodysplasia
Test code
M82.15
Test name
idic(X)(q13) FISH
Target genes
ChrX
Test scope
Copy number variant detection to genomewide resolution; Structural variant detection
Test method/ technology
FISH
Optimal Family Structure
n/a
Eligibility Criteria
Molecular assessment will aid diagnosis or management. Known or suspected / high risk for the development of myelodysplasia
Test code
M82.16
Test name
Multi-target NGS panel - copy number variant (-7/del7q, -5/del5q, -13/del13q, del11q, del12p, del9q, del17/del17p & idic(X)(q13);-Y; del 20q; +8; +19,del(3q)
Target genes
Chr7/Chr7q, Chr5/Chr5q, Chr13/Chr13q, Chr11q, Chr12p, Chr9q, Chr17/Ch17p, ChrX, ChrY/Chr20/20q/Chr8/Chr19/Chr3
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. Known or suspected / high risk for the development of myelodysplasia
Test code
M82.17
Test name
Multi-target NGS panel - structural variant (t(12p), t(17p);inv(3)/t(3q)/del(3q)
Target genes
Chr12p, Chr17p,ChrY,Chr20/20q,Chr8,Chr19,Chr3
Test scope
Structural variant detection
Test method/ technology
Panel
Optimal Family Structure
n/a
Eligibility Criteria
Molecular assessment will aid diagnosis or management. Known or suspected / high risk for the development of myelodysplasia
Test code
M82.18
Test name
ChrY copy number FISH
Target genes
ChrY
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. Known or suspected / high risk for the development of myelodysplasia
Test code
M82.19
Test name
Chr20/20q copy number FISH
Target genes
Chr20
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. Known or suspected / high risk for the development of myelodysplasia
Test code
M82.20
Test name
Chr8 copy number FISH
Target genes
Chr8
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. Known or suspected / high risk for the development of myelodysplasia
Test code
M82.21
Test name
Chr19 copy number FISH
Target genes
Chr19
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. Known or suspected / high risk for the development of myelodysplasia
Test code
M82.22
Test name
inv(3)/t(3q)/del(3q)
Target genes
Chr3(MECOM)
Test scope
Structural variant detection
Test method/ technology
FISH
Optimal Family Structure
n/a
Eligibility Criteria
Molecular assessment will aid diagnosis or management. Known or suspected / high risk for the development of myelodysplasia
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
n/a
Consent record
See consent guidance in test request form
Sample requirements
See sample guidance in test request form