Test Directory

ETV6::RUNX1 t(12;21)(p13;q22) Diagnostic (ALL)

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

ETV6::RUNX1 fusion gene testing is performed on all patients <70 years old diagnosed with ALL based on immunophenotyping results via a reflex testing strategy. 

Please see ETV6::RUNX1 MRD monitoring for follow up samples.

The ETV6::RUNX1 fusion oncogene arises as a result of the t(12;21)(p13;q22) cryptic translocation. It is observed in approximately 25% of paediatric B-ALL and is associated with a more favourable prognosis.

ETV6::RUNX1 fusion gene analysis is carried out as part of the Acute Lymphoblastic Leukaemia testing panel, which also includes BCR::ABL1, TCF3::PBX1 and KMT2A fusion gene analysis.

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