Test Directory

BCR::ABL1 t(9;22)(q34;q11) E1A2, E13A2 & E14A2 transcripts Diagnostic Acute Leukaemia

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.​  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

BCR::ABL1 fusion gene testing is performed on all patients <70 years old diagnosed with Acute Myeloid Leukaemia (AML) and on all patients with Acute Lymphoblastic Leukaemia (ALL) based on immunophenotyping results via a reflex testing strategy. 

RT-qPCR is used for detection of the most frequent BCR::ABL1 fusion transcripts E1A2, E13A2 and E14A2. It will not detect rare BCR-ABL1 fusion transcripts such as E19A2. Refer to testing for further information.

BCR::ABL1 fusion gene analysis is carried out as part of both AML and ALL testing panels.

The AML panel also includes: CBFB::MYH11, RUNX1::RUNX1T1, PML::RARA, KMT2A fusion gene, FLT3 (ITD and D835) and NPM1 gene mutation analysis.

The ALL panel includes: ETV6::RUNX1, TCF3::PBX1 and KMT2A fusion gene analysis.

Please see BCR::ABL1 (E13A2/E14A2) or BCR::ABL1 (E1A2) MRD monitoring accordingly for follow up samples.

BCR::ABL1 fusion gene is not restricted to CML, it is also found in 10-30% of B-ALL and rarely in AML. Identification of BCR::ABL1 fusion gene at diagnosis of acute leukaemia is crucial for risk stratification and treatment planning.

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