Test Catalog

Test Id : PMLR

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PML::RARA Quantitative, PCR, Varies

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Overview

Test Catalog

Useful For
Suggests clinical disorders or settings where the test may be helpful

Diagnosis of acute promyelocytic leukemia (APL)

 

Detection of residual or recurrent APL

 

Monitoring the level of PML::RARA (promyelocytic leukemia/retinoic acid receptor alpha) in APL patients

Testing Algorithm
Delineates situations when tests are added to the initial order. This includes reflex and additional tests.

Method Name
A short description of the method used to perform the test

Quantitative, Real-Time Polymerase Chain Reaction (PCR)

NY State Available
Indicates the status of NY State approval and if the test is orderable for NY State clients.

Yes

Reporting Name
Lists a shorter or abbreviated version of the Published Name for a test

PML/RARA Quantitative, PCR

Aliases
Lists additional common names for a test, as an aid in searching

(15;17)(q22;q12)

Acute myeloid leukemia (AML)

Acute promyelocytic leukemia (APL)

AML (acute myeloid leukemia)

AMPL

APL minimum residual disease

PCR

PML/RARA

ABC

PML-RARA

Testing Algorithm
Delineates situations when tests are added to the initial order. This includes reflex and additional tests.

Specimen Type
Describes the specimen type validated for testing

Varies

Ordering Guidance

This assay may not detect rare, unusual PML::RARA fusions. Therefore, if the assay is going to be used for monitoring after treatment, the test should be performed at the time of diagnosis to ensure that the test gives a positive result.

Shipping Instructions

1. Refrigerated specimens must arrive within 5 days of collection, and ambient specimens must arrive within 3 days of collection.

2. Collect and package specimen as close to shipping time as possible.

Necessary Information

The following information is required:

1. Pertinent clinical history

2. Date of collection

3. Specimen source (blood or bone marrow)

ORDER QUESTIONS AND ANSWERS

Question ID Description Answers
MP012 Specimen Type

Specimen Required
Defines the optimal specimen required to perform the test and the preferred volume to complete testing

Submit only 1 of the following specimens:

 

Specimen Type: Whole blood

Container/Tube:

Preferred: Lavender top (EDTA)

Acceptable: Yellow top (ACD)

Specimen Volume: 10 mL

Collection Instructions:

1. Invert several times to mix blood.

2. Send whole blood specimen in original tube. Do not aliquot.

3. Label specimen as blood.

 

Specimen Type: Bone marrow

Container/Tube:

Preferred: Lavender top (EDTA)

Acceptable: Yellow top (ACD)

Specimen Volume: 4 mL

Collection Instructions:

1. Invert several times to mix bone marrow.

2. Send bone marrow specimen in original tube. Do not aliquot

3. Label specimen as bone marrow.

Special Instructions
Library of PDFs including pertinent information and forms related to the test

Forms

1. Hematopathology Patient Information (T676)

2. If not ordering electronically, complete, print, and send a Hematopathology/Cytogenetics Test Request (T726) with the specimen.

Specimen Minimum Volume
Defines the amount of sample necessary to provide a clinically relevant result as determined by the testing laboratory. The minimum volume is sufficient for one attempt at testing.

Blood: 8 mL; Bone Marrow: 2 mL

Reject Due To
Identifies specimen types and conditions that may cause the specimen to be rejected

Gross hemolysis Reject
Moderately to severely clotted Reject

Specimen Stability Information
Provides a description of the temperatures required to transport a specimen to the performing laboratory, alternate acceptable temperatures are also included

Specimen Type Temperature Time Special Container
Varies Refrigerated (preferred) 5 days PURPLE OR PINK TOP/EDTA
Ambient 72 hours PURPLE OR PINK TOP/EDTA

Useful For
Suggests clinical disorders or settings where the test may be helpful

Diagnosis of acute promyelocytic leukemia (APL)

 

Detection of residual or recurrent APL

 

Monitoring the level of PML::RARA (promyelocytic leukemia/retinoic acid receptor alpha) in APL patients

Testing Algorithm
Delineates situations when tests are added to the initial order. This includes reflex and additional tests.

Clinical Information
Discusses physiology, pathophysiology, and general clinical aspects, as they relate to a laboratory test

Acute promyelocytic leukemia (APL) accounts for 5% to 10% of acute myeloid leukemia and, generally, has a good prognosis with current treatment protocols. APL cells contain a fusion gene comprised of the downstream sequences of the retinoic acid receptor alpha gene (RARA) fused to the promoter region and upstream sequences of one of several genes, the most common (>80%) being the promyelocytic leukemia gene (PML). The fusion gene is designated PML::RARA and may be seen in a karyotype as t(15;17)(q22;q12). Messenger RNA produced from the fusion gene can be detected using a polymerase chain reaction (PCR)-based assay and indicates the presence of neoplastic cells. The PCR-based assay has greater sensitivity than standard methods such as morphology review, karyotyping, or fluorescence in situ hybridization.

 

Recent studies have indicated that sensitive monitoring is important because the majority of patients who remain PCR positive, or become PCR positive again following treatment, will relapse and will likely benefit from early intervention for residual/recurrent disease. This quantitative assay allows PML::RARA levels to be monitored rather than simply detecting the presence or absence of disease.

Reference Values
Describes reference intervals and additional information for interpretation of test results. May include intervals based on age and sex when appropriate. Intervals are Mayo-derived, unless otherwise designated. If an interpretive report is provided, the reference value field will state this.

An interpretive report will be provided.

 

If positive, a value representing a ratio of PML::RARA fusion transcript to the control gene ABL1 expressed as a percentage will be reported.

Interpretation
Provides information to assist in interpretation of the test results

The assay is reported in the form of a normalized ratio of PML::RARA (promyelocytic leukemia/retinoic acid receptor alpha) fusion transcript to the control gene ABL1 expressed as a percentage, which is an estimate of the level of PML::RARA RNA present in the specimen, expressed in relation to the level of RNA from an internal control gene (ABL1). The normalized ratio has no units but is directly related to the level of PML::RARA detected (ie, larger numbers indicate higher levels of PML::RARA and smaller numbers indicate lower levels). A relative expression value minimizes variability in the RNA levels measured in separate specimens tested at different times. Although a quantitative polymerase chain reaction assay is performed, the precision of the assay is such that results must be considered semiquantitative, and it is recommended that only log changes be considered significant. Critical results, such as a change in the status of positivity, should be repeated on a separate specimen to verify the result.

Cautions
Discusses conditions that may cause diagnostic confusion, including improper specimen collection and handling, inappropriate test selection, and interfering substances

PML::RARA (promyelocytic leukemia/retinoic acid receptor alpha) levels can only be compared reliably if tested in the same laboratory using the same procedure each time.

 

This assay will only detect PML::RARA RNA and will not detect RNA from the less common RARA fusion genes.

Clinical Reference
Recommendations for in-depth reading of a clinical nature

1. Grimwade D, Lo Coco F. Acute promyelocytic leukemia: a model for the role of molecular diagnosis and residual disease monitoring in directing treatment approach in acute myeloid leukemia. Leukemia. 2002;16(10):1959-1973

2. Adams J, Nassiri M. Acute promyelocytic leukemia: A review and discussion of variant translocations. Arch Pathol Lab Med. 2015;139(10):1308-1313

3. Kayser S, Schlenk RF, Platzbecker U. Management of patients with acute promyelocytic leukemia. Leukemia. 2018;32(6):1277-1294

4. Ablain J, de The H. Revisiting the differentiation paradigm in acute promyelocytic leukemia. Blood. 2011;117(22):5795-5802

Method Description
Describes how the test is performed and provides a method-specific reference

Total RNA is extracted from blood or bone marrow and reverse transcribed to generate complementary DNA. Quantitative real-time polymerase chain reaction is performed using the LightCycler instrument platform (Roche) and the data analyzed using the dedicated software for relative quantification with calibrator normalization. Results are provided as a normalized relative value of PML::RARA/ABL1 messenger RNA (mRNA) with a reproducible analytical sensitivity of 0.003%(Unpublished Mayo method).

 

The normalized ratio is a relative quantification calculation as follows: 

Normalized ratio*=

PML::RARA (sample)

ABL1 (sample)

PML::RARA (calibrator)

ABL1 (calibrator)

 

*Where ABL1 mRNA is used to normalize variations in RNA quality and calibrator mRNA from a PML::RARA-positive cell line is used to normalize variations in run conditions.

PDF Report
Indicates whether the report includes an additional document with charts, images or other enriched information

Supplemental

Day(s) Performed
Outlines the days the test is performed. This field reflects the day that the sample must be in the testing laboratory to begin the testing process and includes any specimen preparation and processing time before the test is performed. Some tests are listed as continuously performed, which means that assays are performed multiple times during the day.

Monday through Saturday

Report Available
The interval of time (receipt of sample at Mayo Clinic Laboratories to results available) taking into account standard setup days and weekends. The first day is the time that it typically takes for a result to be available. The last day is the time it might take, accounting for any necessary repeated testing.

4 to 8 days

Specimen Retention Time
Outlines the length of time after testing that a specimen is kept in the laboratory before it is discarded

Blood/Bone marrow: 2 weeks; Extracted RNA: 3 months

Performing Laboratory Location
Indicates the location of the laboratory that performs the test

Rochester

Fees
Several factors determine the fee charged to perform a test. Contact your U.S. or International Regional Manager for information about establishing a fee schedule or to learn more about resources to optimize test selection.

  • Authorized users can sign in to Test Prices for detailed fee information.
  • Clients without access to Test Prices can contact Customer Service 24 hours a day, seven days a week.
  • Prospective clients should contact their account representative. For assistance, contact Customer Service.

Test Classification
Provides information regarding the medical device classification for laboratory test kits and reagents. Tests may be classified as cleared or approved by the US Food and Drug Administration (FDA) and used per manufacturer instructions, or as products that do not undergo full FDA review and approval, and are then labeled as an Analyte Specific Reagent (ASR) product.

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
Provides guidance in determining the appropriate Current Procedural Terminology (CPT) code(s) information for each test or profile. The listed CPT codes reflect Mayo Clinic Laboratories interpretation of CPT coding requirements. It is the responsibility of each laboratory to determine correct CPT codes to use for billing.

CPT codes are provided by the performing laboratory.

81315-PML/RAR-alpha (t(15;17)), (PML-RARA regulated adaptor molecule 1) (eg, promyelocytic leukemia) translocation analysis; all breakpoints (eg, intron 3, intron 6 and variable in exon 6), qualitative or quantitative

LOINC® Information
Provides guidance in determining the Logical Observation Identifiers Names and Codes (LOINC) values for the order and results codes of this test. LOINC values are provided by the performing laboratory.

Test Id Test Order Name Order LOINC Value
PMLR PML/RARA Quantitative, PCR In Process
Result Id Test Result Name Result LOINC Value
Applies only to results expressed in units of measure originally reported by the performing laboratory. These values do not apply to results that are converted to other units of measure.
MP012 Specimen Type 31208-2
19449 Interpretation 69047-9
39469 PMLR Result No LOINC Needed

Test Setup Resources

Setup Files
Test setup information contains test file definition details to support order and result interfacing between Mayo Clinic Laboratories and your Laboratory Information System.

Excel | Pdf

Sample Reports
Normal and Abnormal sample reports are provided as references for report appearance.

Normal Reports | Abnormal Reports

SI Sample Reports
International System (SI) of Unit reports are provided for a limited number of tests. These reports are intended for international account use and are only available through MayoLINK accounts that have been defined to receive them.

SI Normal Reports | SI Abnormal Reports