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| Test Name: | ABL1 Kinase Domain Mutation Detection |
| Compliance: | LDT |
| Test Description: | 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/ABL1 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. |
| Methodology: | PCR-Sanger sequencing analysis of kinase domain mutation in the ABL1 gene |
| Gene Name: | ABL1 |
| Protein Name: | |
| Specimen Requirements: | EDTA Leukemic Blood / EDTA Bone Marrow (5mL) |
| Storage Condition: | Ambient Temperature / 4℃ (if overnight is needed) |
| Turn Around Time: | 5 working days from day of specimen received |
| OMIM: | |
| Genetic Home Reference: | |
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Copyright © 2013 香港分子病理檢驗中心 Hong Kong Molecular Pathology Diagnostic Centre Limited (HKMPDC). All Rights Reserved.
Information Updated 1 July, 2023.
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