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ABL Kinase domain mutations

Item Value
Approval req'd? Yes, if not ordered by Adult or Pediatric Hematology-Oncology
Available Stat? No
Utilization Guidelines Tests with long turn-around times (ie. Molecular based tests and Microarrays) should only be requested on an inpatient if the result is going to affect the inpatient management.

If the patient will likely be discharged before the result will be available, the test should be requested after discharge. (NOTE: UCSF Medical Center is not reimbursed for inpatient testing).

An exception to the above may be appropriate if there is a possibility the patient will not survive to be discharged and the information is important for diagnosis and/or family decisions/management (ie. recurrence risk).
Test code KDSQ
Test group BCRABL
Performed by Medical Genomics - Molecular Diagnostics
In House Availability Run 1x per week as needed, Monday or Wednesday, day shift only
Method RT-PCR and DNA sequencing
Collection Instructions Due to limited stability samples for this test should not be collected the day before a holiday or 3-day weekend.

Do not collect sample in heparin. Keep sample refrigerated for overnight or longer storage.

For UCSF Samples (from remote sites) Click here for sample collection instructions

For NON-UCSF Samples Click here for Requisition form & Account set-up instructions. Note we only do institutional billing.
Container type Lavender top
Amount to Collect
Blood 5 mL
Marrow 2 mL
Sample type EDTA Whole blood or marrow
Preferred volume
Blood 5 mL
Marrow 2 mL
Min. Volume
Blood 2 mL
Marrow 1 mL
UCSF Rejection Criteria Samples collected in heparin
Processing notes Do not centrifuge. Refrigerate sample, DO NOT freeze.
Normal range None detected
Synonyms BCR-ABL mutations; BCR/ABL mutations; CML; Chronic myelogenous leukemia; Gleevec resistance; Iminitab mesylate resistance; Philadelphia chromosome; PH1 chromosome; breakpoint cluster region
Stability Refrigerated 3 days.
Turn around times 7-10 days
Additional information An interpretation of this test by a laboratory physician will automatically be performed and billed for separately.

Treatment of CML and ALL patients positive for BCR-ABL chromosomal translocation is aimed at the eradication of tumor cells carrying the BCR-ABL oncoprotein, which has increased tyrosine kinase activity. Treatment with Gleevec (imatinib mesylate) or other tyrosine kinase inhibitors (TKI's) may result in drug resistance caused by the development of mutations within the ABL kinase domain (KD) of the BCR-ABL oncoprotein. Early identification of these mutations, for example as a patient is monitored for minimal residual disease by PCR, may prevent clinical relapse and allow physicians to use alternative TKI's that could potentially eradicate leukemic clones carrying a specific ABL KD mutation. Specific ABL KD mutations have been determined to be either sensitive or resistant to imatinib, dasatinib, or ilotinib and therefore treatment modalities can be tailored based on a patient's specific mutation.

This test will detect leukemic clones carrying a BCR-ABL translocation at a level of 1 in 100,000 cells and will identify ABL KD mutations in that population when 20% or more of the cells contain the mutation.

The result is reported as negative or positive with the type of ABL KD mutation detected and whether it is present as a clonal expansion or on a background on non-mutated cells. Results are best interpreted during follow-up monitoring of the BCR-ABL to ABL ratio using the Quantitative BCR-ABL assay.

This test was developed and it's performance characteristics determined by the Clinical Laboratories at the UCSF Medical Center. it has not been cleared or approved by the U.S. Food and Drug Administration.
CPT coding 81170
LDT or Mod FDA? Yes
Last Updated 6/22/2016 12:46:19
Entry Number 1194
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