Clinical Indication ID & Name
Inherited predisposition to acute myeloid leukaemia (AML)
Test Group
Haematology
Specialties
Test code
R347.1
Test name
N/A
Target genes
Inherited predisposition to acute myeloid leukaemia (AML) (525)
Test scope
n/a
Test method/ technology
Small panel
Optimal Family Structure
n/a
Eligibility Criteria
Affected individual (proband) where the individual +/- family history meets one of the following criteria. The proband has:
1. AML/MDS AND a pre-existing disorder of platelet function, OR
2. AML/MDS AND ≥1 relative (first / second / third degree relative) with AML/ MDS/ unexplained cytopenia / aplastic anaemia
Test code
R347.2
Test name
N/A
Target genes
RUNX1 21q22.12;CEBPA 19q13.11;GATA2 3q21.3;TERT 5p15.33;TERC 3q26.2
Test scope
n/a
Test method/ technology
MLPA or equivalent
Optimal Family Structure
n/a
Eligibility Criteria
Affected individual (proband) where the individual +/- family history meets one of the following criteria. The proband has:
1. AML/MDS AND a pre-existing disorder of platelet function, OR
2. AML/MDS AND ≥1 relative (first / second / third degree relative) with AML/ MDS/ unexplained cytopenia / aplastic anaemia
Commissioning group
Specialised
Overlapping idications
• M80 Acute myeloid leukaemia should be used for somatic testing
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
Consent record
See consent guidance in test request form
Sample requirements
See sample guidance in test request form