ARUP's Laboratory Test Directory
| 0040138: BCR-ABL1 Kinase Domain Mutation Analysis |
![[ image for: Time Sensitive]](icon_1.jpg){kind=icon} | Time Sensitive |
| Test Mnemonic: BCRABL MUT | |
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Methodology: Polymerase Chain Reaction/Sequencing
Performed: Varies Reported: 10-12 days |
| Specimen Required: | |
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Collect: One 5 mL lavender (EDTA), or pink (K2EDTA).
Transport: 5 mL whole blood OR 3 mL bone marrow at 2-8°C. (Min: 1 mL) Pediatric Collection/Transport: 1 mL whole blood OR bone marrow at 2-8°C. Remarks: Include information regarding any current kinase inhibitor treatment the patient may be receiving. Unacceptable Conditions: Clotted specimens. Stability: Ambient: Unacceptable; Refrigerated: 48 hours; Frozen: Unacceptable |
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| Reference Interval: |
| By report |
| Interpretive Data: | |
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Total RNA is extracted and reverse-transcribed. A fragment with the kinase domain from the BCR/ABL1 fusion cDNA is amplified by a nested PCR method. The DNA fragment is confirmed by agarose gel electrophoresis and subjected to DNA sequence analysis. This assay detects greater than 90% of cases with ABL1 mutation that may lead to imatinib resistance, including the T315I change. An additional RT-PCR amplification of a fragment present in all cells is performed as a control sample for RNA and cDNA quality. Each assay includes a positive control sample containing the BCR/ABL1 fusion transcript and a negative control sample lacking BCR/ABL1. The limit of detection for this test is 1 CML cell in 1,000 normal cells. Results of this test must always be interpreted in the context of morphologic and other relevant data, and should not be used alone for a diagnosis of malignancy. A negative result does not preclude the presence of BCR/ABL1 mutations in transcripts below the detection limit of this test or the presence of rare mutations not detected by this test. This test does not detect other mechanisms of resistance to imatinib. This test is not intended to detect minimal residual disease. Please refer to Statement B in the Compliance Statements section in the front of the Laboratory Test Directory. |
| CPT Code(s): | |
| 83891 Isolation; 83902 Reverse transcription; 83898 x3 Amplification; 83894 Gel detection; 83912 Interpretation and report. If sequencing is performed, add: 83904 Sequencing and 83909 Capillary electrophoresis. Additional CPT code modifiers may be required for procedures performed to test for oncologic or inherited disorders. |