PML-RARA Transcript Detection for Acute Promyelocytic Leukemia, Quantitative
Also known as: 15;17 Translocation Detection by RT-PCR, APL
Use
The translocation t(15;17) (q22;q21) is the prototype rearrangement found in the vast majority of acute promyelocytic leukemia (APL), being found in >95% of APL cases. In this chromosomal rearrangement, the retinoic acid receptor (RARA) gene on chromosome 17 is fused with the PML gene on chromosome 15. There are three common breakpoints within the PML gene, bcr1 (intron 6), bcr2 (exon 6), and bcr3 (intron 3). All breakpoints fuse a portion of the PML gene to a consistent breakpoint region within the RARA gene. This assay will detect the PML-RARA transcripts associated with the bcr1, bcr2, and bcr3 breakpoints using real-time RT-PCR in order to assist in the diagnosis and monitoring of APL. The results are reported as a normalized ratio of %PML-RARA copies/ABL1 copies. In vitro studies have indicated that this assay has an analytical sensitivity that allows for the detection of 0.001% PML-RARA/ABL1.
Special Instructions
Not provided.
Limitations
Absence of a detectable rearrangement does not exclude the possibility of the presence of low levels of transcript below the level of detection of this assay, or a rearrangement outside the analyzed breakpoint regions. Fluorescence in situ hybridization (FISH) is recommended to detect rare variant breakpoints or other translocations associated with APL.
Methodology
PCR-based (qPCR)
Biomarkers
LOINC Codes
- 72104-3 - Leuk FTperCT Pnl Bld/T
- 72216-5 - t(15;17) BCR1/control Bld/T
- 72215-7 - t(15;17) BCR2/control Bld/T
- 72214-0 - t(15;17) BCR3/control Bld/T
- 62365-2 - Diagnostic imp Spec-Imp
- 77202-0 - Laboratory comment Report
- 49549-9 - Ref lab test method
- 72486-4 - Lab director name Provider
- 80563-0 - Report
Result Turnaround Time
4-7 days
Related Documents
For more information, please review the documents below
Specimen
Whole Blood
Volume
3 to 5 mL
Minimum Volume
3 mL
Container
Lavender-top (EDTA) tube, green-top (sodium heparin) tube, yellow-top (ACD-A) tube, tan-top (K2-EDTA) tube or pink-top (K2-EDTA) tube
Storage Instructions
Ship at room temperature. If specimen is to be stored prior to shipment, store at 2°C to 8°C.
Causes for Rejection
Specimen does not meet collection criteria; frozen whole blood, marrow, or cell pellet; leaking tube; clotted blood or marrow; grossly hemolyzed specimen or otherwise visibly degraded; contamination by another specimen; specimens containing suspicious foreign material
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