Effective Tuesday, July 9, 2019, ABL1 Tyrosine Kinase Inhibitor (TKI) Resistance Mutation Detection and Interpretation is available by the Molecular Pathology Laboratory in the Department of Pathology.

Key features to note:

• Testing is for detection of ABL1 tyrosine kinase domain mutations that confer resistance to TKI therapy in patients with BCR-ABL1 positive chronic myelogenous leukemia (CML), acute lymphoblastic leukemia (ALL) or acute myeloid leukemia (AML).
• This assay is not intended to be used for detection or quantification of BCR-ABL1 fusion transcripts.
• Testing is recommended for patients who exhibit treatment failure as evidenced by rising BCR-ABL1 fusion transcript levels. A BCR-ABL1 fusion transcript level of 5%IS (percent International Standard) is necessary for testing.
• The limit of detection for variants is 1.0% mutant allele fraction.

EPIC Test Name: ABL1 TKI Resistance Mutation Detection with Interpretation - Blood or ABL1 TKI Resistance Mutation Detection with Interpretation - Bone Marrow

EPIC Order Code: LAB8915 Blood or LAB8919 Bone Marrow

Specimen type: Whole blood (EDTA anti-coagulated; 6 mL pink top tube) or bone marrow aspirate (EDTA anti-coagulated; pink or lavender top tube). DO NOT CENTRIFUGE. Store and send whole blood refrigerated.

Method: RNA is isolated from whole blood or bone marrow aspirates. Reverse transcription and anchored multiplex PCR are performed for targeted next-generation sequencing (Illumina based sequencing) to detect variants in the ABL1 gene spanning amino acids 85 – 559.

Reference Range: No variants detected.

Questions concerning testing can be directed to Aaron Bossler, MD, PhD (319-384-9566), Deqin Ma, MD, PhD (319-384-5700), or Sharathkumar Bhagavathi, MD (319-678-8197).