ABL Kinase Domain Mutation in CML Cell based
Also known as: ABL Mutation, Cell-based, ABL Mutation
Use
ABL kinase domain mutations are a common mechanism of acquired resistance in chronic myelogenous leukemia (CML) patients treated with tyrosine kinase inhibitors (TKIs) such as imatinib, dasatinib, and nilotinib. Detection of these mutations, including T315I, Y253H, E255K/V, V299L, F311L/V/I, F317L/V/I/C, A337T, F359V/I/C, and P465S, helps guide selection of alternative TKIs to which the patient may remain responsive. The assay sequences exons 4–9 of the ABL kinase domain (codons 234–507) to identify resistance-associated mutations and inform therapeutic decision-making.
Special Instructions
Not provided.
Limitations
This test was developed and its analytical performance characteristics have been determined by Quest Diagnostics. It has not been cleared or approved by the FDA, but has been validated under CLIA and is used for clinical purposes. Frozen samples are unacceptable; gross hemolysis, lipemia, clotted whole blood or marrow samples may lead to rejection. The test requires sufficient BCR‑ABL1 transcript levels, so a quantitative BCR‑ABL1 PCR (test code 91065) is recommended within two weeks prior to ensure adequacy for sequencing.
Methodology
PCR-based (PCR)
Biomarkers
Result Turnaround Time
3-7 days
Related Documents
For more information, please review the documents below
Specimen
Whole Blood
Volume
5 mL (minimum 3 mL)
Minimum Volume
Not provided
Container
Lavender-top (EDTA) or green-top (sodium heparin) or yellow ACD Solution B tube
Storage Instructions
Refrigerated transport; ship specimen immediately
Causes for Rejection
Gross hemolysis, lipemia, frozen samples, clotted whole blood samples
Stability Requirements
| Temperature | Period |
|---|---|
| Room Temperature | 72 hours |
| Refrigerated | 72 hours |