ABL1 TKI Resistance Mutation Detection with Interpretation
| Label Mnemonic: | HEMEABL, HEMEABLBM |
| Epic code: | LAB8915 for Blood LAB8919 for Bone Marrow |
| Downtime form: | Doctor/Provider Orders - Pathology Molecular |
Molecular Pathology
6240 RCP
384-9568
6240 RCP
384-9568
Specimen(s):
Blood or Bone Marrow Aspirate
Specimen
Instructions:
Testing requires dedicated collection tube.
Collection Medium:
 |
| Pink top tube 6 mL (K2-EDTA) |
Minimum:
Whole blood (EDTA anti-coagulated; 6 mL pink top tube) or bone marrow aspirate (EDTA anti-coagulated; pink or lavender top tube).
Rejection Criteria:
Serum or plasma. Specimens collected in anticoagulants other than EDTA. Frozen Specimens.
Delivery Instructions:
Store and send whole blood refrigerated. DO NOT CENTRIFUGE.
Testing Schedule:
Weekly
Turn Around
Time:
21 days
Reference Range:
No variants detected.
Comments:
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.
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.
Methodology:
RNA is isolated from whole blood. 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.
CPT Code:
81170