BCR-ABL1 Non-Standard p230
Also known as: BCR-ABL1 p230 Translocation, BCR/ABL1 Non-Standard
Use
Subsets of patients with Ph1+ chronic myeloid leukemia (CML) have a unique breakpoint within the BCR gene on chromosome 22. This breakpoint is 3' to the more common breakpoints found in patients with CML and ALL and can lead to e19a2 fusion transcript. Thus, p230 BCR ABL1 contains additional BCR coding sequences that are not found in the p190 or p210 variants. The incidence of this translocation is very rare, but may lead to falsely negative molecular testing when the molecular testing is designed to detect breakpoints in E1, E13 or E14. Although some studies suggested that the course of CML in patients with p230 is milder than that in average CML, response to therapy is similar. However, very little literature is available due to the rarity of this abnormality. This test is not recommended as a sole primary diagnostic test for CML or other acute leukemia.
Special Instructions
Not provided.
Limitations
The test may lead to falsely negative molecular testing when the molecular testing is designed to detect breakpoints in E1, E13 or E14. It is not recommended as a sole primary diagnostic test for CML or other acute leukemia.
Methodology
PCR-based (RT-PCR)
Biomarkers
BCR-ABL1 fusion
Fusion
Result Turnaround Time
7 days
Related Documents
For more information, please review the documents below
Specimen
Bone Marrow
Volume
2 mL
Minimum Volume
Not provided
Container
EDTA tube
Storage Instructions
Use cold pack for transport, making sure cold pack is not in direct contact with specimen. Ship same day as drawn whenever possible.