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HelpTest Code APLDF Acute Promyelocytic Leukemia-PML::RARA fusion, Expedited Diagnostic FISH, Varies
Ordering Guidance
This test is intended for diagnostic samples only when PML::RARA fusion is presumed and targeted PML and RARA fluorescence in situ hybridization (FISH) probes are needed to diagnose acute promyelocytic leukemia (APL).
Complete acute myeloid leukemia (AML) diagnostic FISH panel tests for adults and pediatric patients are also available. AML panel tests will be automatically prioritized by the laboratory when PML::RARA fusion is present. Most often, AML panel tests found with PML::RARA fusion will be reported the next business day from receipt in the Genomics laboratory. Same day testing is not available for panel testing. If panel testing is warranted, order either AMLFA / Adult Acute Myeloid Leukemia Panel, FISH, Varies or AMLFP / Pediatric Acute Myeloid Leukemia Panel, FISH, Varies, as appropriate based on patient age.
This test should not be used to screen for residual AML or when the diagnosis of APL is not strongly suggested. Monitoring patients known to have PML::RARA fusion should be performed by quantitative reverse transcription-polymerase chain reaction (RT-PCR) testing and not FISH testing. If the specimen does not meet the criteria for RT-PCR, follow-up FISH testing for PML::RARA fusion should be ordered as AMLMF / Acute Myeloid Leukemia (AML), Specified FISH, Varies with a PML/RARA specific probe request.
If this test is received in the laboratory concurrently with an order for either AMLFA / Adult Acute Myeloid Leukemia Panel, FISH, Varies or AMLFP / Pediatric Acute Myeloid Leukemia Panel, FISH, Varies, panel testing will be held pending the results of this test. Ordering an AML panel test concurrently with this test will result in an approximate 1 business day delay of the panel test reporting. If PML::RARA fusion is detected, the AMLFA or AMLFP panel test will be cancelled by the laboratory. If no fusion is identified, the complete AML FISH panel test will be performed, except for the PML/RARA FISH probe set.
If the entire AML FISH panel is preferred for an adult patient (aged 31 years or older), order AMLFA / Adult Acute Myeloid Leukemia panel, FISH, Varies.
If the entire AML FISH panel is preferred for a pediatric patient (aged 30 years or younger), order AMLFP / Pediatric Acute Myeloid Leukemia panel, FISH, Varies.
If upfront break-apart RARA FISH testing is desired, order AMLMF / Acute Myeloid Leukemia (AML), Specified FISH, Varies. Results will be reported the next business day.
For more information see Acute Promyelocytic Leukemia: Guideline to Diagnosis and Follow-up
Additional Testing Requirements
At diagnosis, PMLR / PML::RARA Quantitative, PCR, Varies should be performed in parallel with this test.
At follow-up, only PMLR / PML::RARA Quantitative, PCR, Varies should be performed.
Shipping Instructions
Advise Express Mail or equivalent if not on courier service.
Necessary Information
1. A reason for testing must be provided. If this information is not provided, an appropriate indication for testing may be entered by Mayo Clinic Laboratories.
2. A flow cytometry and/or a bone marrow pathology report should be submitted with each specimen. The laboratory will not reject testing if this information is not provided, but appropriate testing and interpretation may be compromised or delayed.
3. If a result callback by phone is needed after finalized results are released, the ordering healthcare professional must supply the name and direct phone number of a licensed physician (MD or DO) at the time the order is received.
-Result callbacks are only available during regular business hours.
-Preliminary results or exact times the finalized report will be available will not be provided under any circumstances.
Specimen Required
Submit only 1 of the following specimens:
Preferred
Specimen Type: Bone marrow
Container/Tube:
Preferred: Yellow top (ACD)
Acceptable: Green top (sodium heparin) or lavender top (EDTA)
Specimen Volume: 2 to 3 mL
Collection Instructions:
1. It is preferable to send the first aspirate from the bone marrow collection.
2. Invert several times to mix bone marrow.
3. Send bone marrow in original tube. Do not aliquot.
Acceptable
Specimen Type: Whole blood
Container/Tube:
Preferred: Yellow top (ACD)
Acceptable: Green top (sodium heparin) or lavender top (EDTA)
Specimen Volume: 6 mL
Collection Instructions:
1. Invert several times to mix blood.
2. Send whole blood in original tube. Do not aliquot.
Secondary ID
622913Useful For
Detecting, at diagnosis, acute promyelocytic leukemia (APL)
This test should not be used to screen for residual APL.
Reflex Tests
| Test ID | Reporting Name | Available Separately | Always Performed |
|---|---|---|---|
| APLDB | Probe, Each Additional (APLDF) | No, (Bill Only) | No |
Testing Algorithm
This test includes a charge for the probe application, analysis, and professional interpretation of results for 1 probe set (2 individual fluorescence in situ hybridization [FISH] probes). Additional charges will be incurred for all reflex or additional probe sets performed. Analysis charges will be incurred based on the number of cells analyzed per probe set. If no cells are available for analysis, no analysis charges will be incurred.
This test should only be ordered at the time of diagnosis.
In the absence of PML::RARA fusion, when an extra RARA FISH signal is identified, reflex testing using the break-apart RARA probe set will be performed to resolve or confirm RARA rearrangement concerns. If additional RARA testing is required, results will be delayed until the next business day.
Appropriate ancillary probes may be performed at consultant discretion to render comprehensive assessment. Any additional probes will have the results included within the final report and will be performed at an additional charge.
Special Instructions
Method Name
Fluorescence In Situ Hybridization (FISH)
Reporting Name
APL - PML::RARA fusion, FISH, BL/BMSpecimen Type
VariesSpecimen Minimum Volume
Bone marrow: 1 mL; Whole blood: 2 mL
Specimen Stability Information
| Specimen Type | Temperature | Time |
|---|---|---|
| Varies | Ambient (preferred) | |
| Refrigerated | ||
Reject Due To
All specimens will be evaluated at Mayo Clinic Laboratories for test suitability.Clinical Information
Acute myeloid leukemia (AML) is one of the most common adult leukemias, with almost 10,000 new cases diagnosed per year. AML also comprises 15% of pediatric acute leukemia and accounts for the majority of infant (<1 year old) leukemia. Acute promyelocytic leukemia (APL) is a subtype of AML and is most often associated with t(15;17)(q24;q21) with subsequent fusion of the PML gene with the RARA gene.
Real-time quantitative polymerase chain reaction is currently the standard method for molecular monitoring in APL(1),. fluorescence in situ hybridization is not recommended for APL monitoring.
Reference Values
An interpretive report will be provided
Interpretation
Detection of PML::RARA (promyelocytic leukemia/retinoic acid receptor alpha) fusion confirms the clinical diagnosis of acute promyelocytic leukemia (APL). In rare cases, APL is caused by fusion between RARA and one of several other partner genes. When APL is highly suspected and fluorescence in situ hybridization (FISH) shows no PML::RARA fusion, FISH for RARA rearrangement is recommended. A PML-RARA fusion positive APL may also have other clonal chromosome abnormalities that can be detected by chromosome analysis. A PML::RARA fusion may be accompanied by gene mutations that can be detected by polymerase chain reaction (PCR) or sequencing. Disease monitoring for APL is preferably done by quantitative PCR for the PML::RARA fusion gene transcripts.
Day(s) Performed
Monday through Sunday
Report Available
1 to 3 daysSpecimen Retention Time
4 weeksPerforming Laboratory
Mayo Clinic Laboratories in Rochester
Test Classification
This test was developed and its performance characteristics determined by Mayo Clinic in a manner consistent with CLIA requirements. It has not been cleared or approved by the US Food and Drug Administration.CPT Code Information
88271x2, 88275x1, 88291x1- FISH Probe, Analysis, Interpretation; 1 probe set
88271x2, 88275x1-FISH Probe, Analysis; each additional probe set (if appropriate)
LOINC Code Information
| Test ID | Test Order Name | Order LOINC Value |
|---|---|---|
| APLDF | APL - PML::RARA fusion, FISH, BL/BM | 77031-3 |
| Result ID | Test Result Name | Result LOINC Value |
|---|---|---|
| 622914 | Result Summary | 50397-9 |
| 622915 | Interpretation | 77031-3 |
| 622916 | Result Table | 93356-4 |
| 622917 | Result | 62356-1 |
| GC168 | Reason for Referral | 42349-1 |
| GC169 | Specimen | 31208-2 |
| 622918 | Source | 31208-2 |
| 622919 | Method | 85069-3 |
| 622920 | Additional Information | 48767-8 |
| 622921 | Disclaimer | 62364-5 |
| 622922 | Released By | 18771-6 |