BCR-ABL1 Mutation Analysis for Tyrosine Kinase Inhibitor Resistance by Next Generation Sequencing

Casandra

Casandra Test Code AR15182Version 1 (DRAFT)

Performing Lab

Lab ARUP LaboratoriesLab Test ID 2008420CPT Code 81170

BCR-ABL1 Mutation Analysis for Tyrosine Kinase Inhibitor Resistance by Next Generation Sequencing

Also known as: BCRABL NGS

Clinical Use

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Use

This test is performed to detect mutations in the BCR-ABL1 gene that may confer resistance to tyrosine kinase inhibitors (TKI) therapy, such as in patients with Philadelphia chromosome positive (Ph+) lymphoblastic leukemia or chronic myelogenous leukemia (CML). It is designed to detect all clinically actionable BCR-ABL1 kinase domain mutations, including the T315I mutation. The test spans ABL1 codons 46 - 542.

Special Instructions

Order this test only for patients with an established diagnosis of a BCR-ABL1-positive leukemia. This NGS test is intended for use in detecting mutations that interfere with TKI therapy response in Ph+ leukemias. For initial BCR-ABL1 testing, refer to the Diagnostic Qualitative BCR-ABL1 Assay with Reflex to p190 or p210 Quantitative Assays.

Limitations

This test's NGS technology can detect substitution mutations present at frequencies as low as 5%. However, the assay's sensitivity is limited, and sequencing may not be possible in samples with low tumor burden. This test is not intended for detecting or quantifying BCR-ABL1 fusion transcripts. Results should be interpreted within the patient's clinical context and should not be used solely for a diagnosis of malignancy. The test is performed in a CLIA certified laboratory but is not FDA-cleared or approved.

Test Details

New York Approved