Order or find a test

The National Genomic Test Directories specify which genomic tests are commissioned by the NHS in England, to be delivered by Genomic Laboratory Hubs.

Clinical Indication ID & Name

R347

Inherited predisposition to acute myeloid leukaemia (AML)

Test Group

Haematology

Specialties

Clinical Genetics Haematology

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

SYNNOVIS ANALYTICS MOLECULAR PATHOLOGY LABORATORY
Molecular Pathology c/o Central Specimen Reception,
Blood Sciences Laboratory,
Ground Floor Bessemer Wing,
King’s College Hospital,
Denmark Hill,
London,
SE5 9RS

Contact with queries

kch-tr.pnd@nhs.net

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

Molecular Pathology Order Form Record of Discussion Form

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