Test Directory

KMT2A (MLL, 11q23) rearrangement Diagnostic test for 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.​ 

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

KMT2A fusion gene assessment will be performed on all patients <70 years old diagnosed with AML or ALL based on immunophenotyping results via a reflex testing strategy. 

The KMT2A fusion gene assessment is performed as part of both AML and ALL panels.

The AML panel also includes: CBFB-MYH11, RUNX1-RUNX1T1, PML-RARA, BCR-ABL1, FLT3 (ITD and D835), NPM1 gene mutation analysis.

The ALL panel includes: ETV6-RUNX1, TCF3-PBX1 and BCR-ABL1 fusion gene analysis.

The KMT2A gene, located on chromosome 11q23 is involved in multiple rearrangements in de-novo acute leukaemia and in rare cases of therapy related leukaemia. Approximately 10% of acute leukaemia harbour KMT2A rearrangements. Of these, two patient populations comprise the majority of cases: patients younger than 1 year of age at diagnosis (primarily ALL) and young to middle-aged adults (primarily AML).

More than 120 different oncogene fusions involving KMT2A gene have been described in adult and paediatric acute leukaemia.

A real time PCR KMT2A test designed to detect the following most common fusion transcripts is used: KMT2A-AFF1 t(4;11)(q21;q23), KMT2A-AFDN t(6;11)(q27;q23), KMT2A-MLLT3 t(9;11)(p23;q23), KMT2A-ELL t(11;19)(q23;p13.1) and KMT2A-MLLT1 t(11;19) (q23;p13.1).  The assay will not detect other rearrangements. 

 

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