Test Directory

CBFB::MYH11 inv(16) / t(16;16) Diagnostic (AML)

Containers - Adult

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Red Cap Tube EDTA KE 9ml
Volume Range

10-15ml Peripheral blood or Bone marrow specimen
Additive per Container

EDTA

Laboratory Site

WGH
Crewe Road South
Edinburgh
EH4 2XU
Telephone: 0131 537 1000

Transport arrangements

Blood and bone marrow specimens should ideally arrive within 24 hours of collection (maximum of 48 hours).  Specimens should arrive no later than 3.30pm on Friday.  Samples should be sent to the following address:

Western General Hospital

Haematology/Biochemistry Combined Reception

Immunophenotyping Laboratory

Crewe Road

Edinburgh

EH4 2XU​

 

See also specimen transportation.

Sample storage arrangements

​Samples should be stored at room temperature. See specimen requirements.​

How to request

Please refer to our detailed requesting ​instructions.  The HMDS request form can be located here.​ 

HMDS request form PDF_v5.pdf

 

Testing may be performed by reflex from immunophenotyping.

Availability

Monday-Friday 9am-5pm

Anticipated turnaround

​Results for diagnostic samples should be expected within 3 working days.  See results.

What happens if the result is positive or abnormal

The requesting clinician will be contacted where results are clinically significant. Please ensure details are included on request form.

Static information/disclaimer

This test is accredited to ISO 15189:2012

General additional information

Full AML panel testing is performed on all patients <70 years old diagnosed with AML based on immunophenotyping results via a reflex testing strategy. 

Please see CBFB-MYH11 MRD monitoring for follow up samples.

The CBFB::MYH11 fusion transcript usually arises as a result of inv(16)(p13q22) or t(16;16)(p13;q22) chromosomal rearrangements. It is usually associated with a more favourable outcome within AML. A diagnosis of AML is considered in cases where CBFB::MYH11 rearrangement is detected regardless of the blast cell count.

CBFB::MYH11 fusion gene analysis is carried out as part of the AML testing panel, which also includes BCR::ABL1, RUNX1::RUNX1T1, PML::RARA, KMT2A fusion gene, FLT3 (ITD and D835) and NPM1 gene mutation analysis.

The KIT mutation occurs in approximately 16-46% of patients and adversely affects prognosis. Patients who are identified as having CBFB::MYH11 fusion gene are tested for the presence of a KIT D816V mutation.

For clinical advice on appropriate investigations and advice for the interpretation of test results, please contact us​.