Reverse transcription followed by nested Polymerase Chain Reaction (PCR).
Chronic myelogenous leukemia (CML) is characterized by the presence of the Philadelphia chromosome, the product of the t(9;22)(q34;q11) translocation. This translocation results in the BCR-ABL fusion protein with constitutive ABL tyrosine kinase activity. The kinase inhibitor imatinib (STI571, Gleevec) inhibits ABL kinase activity and is now the standard of care for early phase CML. Prolonged treatment with imatinib can lead to drug resistance, especially in patients with advanced disease. A large portion of resistant leukemias have acquired point mutations in the ABL kinase domain that renders the kinase resistant to the drug. This test detects greater than 85% of the reported ABL mutations (amino acid residues 235 through 368) that lead to imatinib resistance. The test may detect mutations prior to relapse.
Interpretive report provided. If a PCR product is detected, sequencing analysis will be performed to detect ABL1 kinase domain mutations if present.
* Reference ranges may change over time. Please refer to the original patient report when evaluating results.
This test detects greater than 85% of the reported ABL1 mutations (amino acid residues 235
through 368) that lead to imatinib resistance. The test may detect mutations prior to relapse. More than one clone may exist in resistant cells, with each subclonal component bearing a different mutation. ABL1 kinase domain sequencing may fail if the disease burden is too low (approximately 1 cell in 1,000 normal cells). Specimens older than 48-72 hours may result in failed testing due to RNA degradation.
3 - 10 days
- BCR Kinase Muation Analysis
- ABL-1 KINASE MUTATION ANALYSIS
- ABL1 Kinase Domain Mut'n Shad
- BCRABL Kinase Domain Mutation Detection
- ABL1 Kinase Domain Mutation Detection
- BCRABL Mutation Analysis
- ABL Mutation Analysis
- CML Mutation Analysis
- CML Mutational Sequencing Assay
Collect blood or bone marrow in a lavender top tube. Refrigerate and send intact blood or bone marrow specimen within 48 hours of collection. Fresh tissue (preferably 0.5cm3, sent in RPMI) and fresh aspirates or body fluids are acceptable. Refrigerate and send, preferably within 24 hours. Frozen tissue specimens – preferably frozen with 1 hour of collection – may also be sent frozen on dry ice. Fresh cell suspensions in RPMI should be refrigerated and sent, preferably within 48 hours. Frozen cell suspensions – preferably frozen with 1 hour of collection – may also be sent frozen on dry ice.
By ordering this test the clinician acknowledges that informed consent has been obtained from the patient as required by applicable state or federal laws and the ordering clinician has authorization from the patient permitting MLabs to report the test results to the ordering clinician. Test includes pathologist interpretation of results billed as a separate additional charge. This test is not available without interpretation.