Clinical Indication ID & Name
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
South East HMDS
c/o Central Specimen Reception
Synnovis Analytics
Ground Floor Bessemer Wing
King’s College Hospital
Denmark Hill, London SE5 9RS
Contact with queries
Supporting documents
n/a
Education resources
n/a
Turn around times
All our turnaround times are listed on our specific turn around page https://southeastgenomics.nhs.uk/professionals/service-turn-around-times/
Request form download
Consent record
See consent guidance in test request form
Sample requirements
Samples may be rejected for the following reasons: 1.Samples and request form do not show at least three identical patient identifiers 2.The sample is in the incorrect collection media 3.The request form is not sufficiently completed 4.The sample is not of sufficient volume 5.The sample is too old