Clinical Indication ID & Name
M83
Aplastic Anaemia
Test Group
Haematology
Specialties
Test code
M83.1
Test name
Karyotype (Genomewide)
Target genes
Genomewide
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
Known or suspected aplastic anaemia
Test code
M83.3
Test name
FISH copy number and rearrangement
Target genes
As appropriate
Test scope
Copy number variant detection to genomewide resolution; Structural variant detection
Test method/ technology
FISH
Optimal Family Structure
n/a
Eligibility Criteria
Known or suspected aplastic anaemia
Test code
M83.4
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
Paediatric cases only
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