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
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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.
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.