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0203 313 5353

Tyrosine Kinase Domain Mutation Analysis

Category Specialist Integrated Haematological Malignancy Diagnostic Service (SIHMDS) >> Molecular Pathology
Test background

Variants (mutations) in BCR::ABL1 tyrosine kinase domain (TKD) and other drug binding regions (e.g. myristoyl pocket for asciminib) are a common cause of resistance to tyrosine kinase inhibitors (TKI). This test utilises next generation sequencing (NGS) to detect the presence of variants (>3% variant allele frequency) to assist clinicians with treatment choice.

Note: the historic sanger sequencing method is utilised as a contingency.

Click here to download the SIHMDS request form

Clinical Indications

BCR::ABL1 positive patients (CML, AML, ALL or AL other) that are not responding to treatment. For other testing indications, please liaise with the laboratory.

Testing will only be performed if BCR::ABL1 ratio IS >0.1% (not in major molecular response (MMR)).

Please ensure the following information is provided to not cause a delay in testing:
• Diagnosis
• BCR::ABL1 transcript type
• Current therapy
• Reason for referral

Sample & container required 15-20ml peripheral blood or 3-5ml bone marrow in EDTA. In instances where this is not possible, please send >25ul of cDNA.

For other sample types, please liaise with the laboratory.

Transport storage Samples should be less than 72 hours old (3 days), but must be less than 5 days old upon receipt within the laboratory and be received before 14:30pm. Any samples received after 14:30pm will be accessioned the next working day and processed according to that date.
Turnaround time 21 calendar days

The laboratory is not UKAS accredited for this test due to a change in equipment/assay. Awaiting assessment.