Test Catalog

Test Id : BCRFX

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BCR/ABL1 Qualitative Diagnostic Assay with Reflex to BCR/ABL1 p190 Quantitative Assay or BCR/ABL1 p210 Quantitative Assay, Varies

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Overview

Test Catalog

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

Diagnostic workup of patients with high probability of BCR::ABL1-positive hematopoietic neoplasms, predominantly chronic myeloid/myelogenous leukemia and acute lymphoblastic leukemia

Highlights

Following a positive BCR::ABL1 diagnostic reverse transcription polymerase chain reaction result, a reflex test will be performed to provide a quantitative measurement of BCR/ABL1 mRNA transcript (either p190 or p210 types). Current National Comprehensive Cancer Network guidelines for chronic myeloid leukemia, for example, indicate that the quantitative p210 messenger RNA transcript level be obtained at diagnosis. The reflex test establishes the initial patient diagnostic baseline level to assess response to therapy in follow-up samples.

Reflex Tests
Lists tests that may or may not be performed, at an additional charge, depending on the result and interpretation of the initial tests.

Test Id Reporting Name Available Separately Always Performed
B190R BCR/ABL1, p190, Quant, Reflex Yes, (order BA190) (Bill Only) No
B210R BCR/ABL1, p210, Quant, Reflex Yes, (order BCRAB) (Bill Only) No

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

When a positive common p210 or p190 BCR::ABL1 result is identified by the qualitative assay, a reflex test will then be performed at an additional charge to determine the quantitative transcript level of BCR::ABL1 messenger RNA. A positive common p210 or p190 result will specifically trigger either quantitative p210 or p190 testing to provide a normalized percentage of transcript level. For the p210 target, the value is additionally defined using the international scale convention. The results are released in an integrated report and provide a baseline quantitative transcript to monitor treatment response. If the initial qualitative testing is negative, or an alternate rare form of BCR::ABL1 is detected, then no reflex testing will be pursued, and the initial results will be reported.

 

For more information see:

-Myeloproliferative Neoplasm: A Diagnostic Approach to Bone Marrow Evaluation

-Myeloproliferative Neoplasm: A Diagnostic Approach to Peripheral Blood Evaluation

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

Reverse Transcription Polymerase Chain Reaction (RT-PCR) Multiplex 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

BCR/ABL1 Reflex, Qual/Quant

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

Philadelphia Chromosome Ph1 Bone Marrow/Blood

Philadelphia

BCR/ABL

Chronic Myelogenous Leukemia (CML)

CML (Chronic myeloid/Myelogenous Leukemia)

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

When a positive common p210 or p190 BCR::ABL1 result is identified by the qualitative assay, a reflex test will then be performed at an additional charge to determine the quantitative transcript level of BCR::ABL1 messenger RNA. A positive common p210 or p190 result will specifically trigger either quantitative p210 or p190 testing to provide a normalized percentage of transcript level. For the p210 target, the value is additionally defined using the international scale convention. The results are released in an integrated report and provide a baseline quantitative transcript to monitor treatment response. If the initial qualitative testing is negative, or an alternate rare form of BCR::ABL1 is detected, then no reflex testing will be pursued, and the initial results will be reported.

 

For more information see:

-Myeloproliferative Neoplasm: A Diagnostic Approach to Bone Marrow Evaluation

-Myeloproliferative Neoplasm: A Diagnostic Approach to Peripheral Blood Evaluation

Specimen Type
Describes the specimen type validated for testing

Varies

Ordering Guidance

Shipping Instructions

1. Specimen must arrive within 72 hours of collection.

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

Necessary Information

Pertinent clinical history including if the patient has a diagnosis of chronic myeloid/myelogenous leukemia or other BCR/ABL1 positive neoplasm is required.

ORDER QUESTIONS AND ANSWERS

Question ID Description Answers
MP039 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

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) 72 hours 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

Diagnostic workup of patients with high probability of BCR::ABL1-positive hematopoietic neoplasms, predominantly chronic myeloid/myelogenous leukemia and acute lymphoblastic leukemia

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

When a positive common p210 or p190 BCR::ABL1 result is identified by the qualitative assay, a reflex test will then be performed at an additional charge to determine the quantitative transcript level of BCR::ABL1 messenger RNA. A positive common p210 or p190 result will specifically trigger either quantitative p210 or p190 testing to provide a normalized percentage of transcript level. For the p210 target, the value is additionally defined using the international scale convention. The results are released in an integrated report and provide a baseline quantitative transcript to monitor treatment response. If the initial qualitative testing is negative, or an alternate rare form of BCR::ABL1 is detected, then no reflex testing will be pursued, and the initial results will be reported.

 

For more information see:

-Myeloproliferative Neoplasm: A Diagnostic Approach to Bone Marrow Evaluation

-Myeloproliferative Neoplasm: A Diagnostic Approach to Peripheral Blood Evaluation

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

The t(9;22)/BCR::ABL1 abnormality is associated with chronic myelogenous leukemia (CML) and "Philadelphia-positive" acute lymphoblastic leukemia of B-cell lineage (Ph+ ALL). Very rarely, this abnormality has also been identified in cases of acute myeloid leukemia and T-cell lymphoblastic leukemia/lymphoma. The fusion gene on the derivative chromosome 22q11 produces a chimeric BCR::ABL1 messenger RNA (mRNA) transcript and corresponding translated oncoprotein. Despite substantial breakpoint heterogeneity at the DNA level, a consistent set of BCR::ABL1 mRNA transcripts are produced that can be readily and sensitively detected by reverse transcription polymerase chain reaction (RT-PCR) technique. In CML, breakpoints in BCR result in either exons 13 or 14 (e13, e14) joined to exon 2 of ABL1 (a2). The corresponding e13-a2 or e14-a2 BCR::ABL1 mRNAs produce a 210 kDa protein (p210). Rare cases of CML are characterized by an e19-a2 type mRNA with a corresponding p230 protein. In Ph+ ALL, the majority of cases harbor an e1-a2 BCR::ABL1 mRNA transcript, producing a p190 protein. However, chimeric mRNA type is not invariably associated with disease type, as noted by the presence of p210-positive Ph ALL and very rare cases of p190-positive CML. Therefore, positive results from a screening (diagnostic) assay for BCR::ABL1 mRNA need to be correlated with clinical and pathologic findings.

In addition to the main transcript variants described above, rare occurrences of both CML and Ph+ ALL can have alternative break-fusion events resulting in unusual BCR::ABL1 transcript types. Examples include e6-a2 and BCR exon fusions to ABL1 exon a3 (eg, e13-a3, e14-a3, or e1-a3). In addition to detecting common BCR::ABL1 mRNA transcripts, this assay also can identify these rarer BCR::ABL1 transcript variants and is therefore a comprehensive screen for both usual and uncommon BCR::ABL1 gene fusions in hematopoietic malignancies. Given the nature of genetic events in tumors however, this assay will not identify extremely rare and unexpected BCR::ABL1 events involving other exons (eg, case report level) and is therefore not absolutely specific but is predicted to detect greater than 99.5% of BCR::ABL1 events. Therefore, it is recommended that for diagnosis, RT-PCR plus a second method (eg, BCR::ABL1 fluorescence in situ hybridization or cytogenetics) should be used. However, this RT-PCR assay is invaluable at diagnosis for identifying the precise BCR::ABL1 mRNA type (eg, for future quantitative assay disease monitoring), which complementary methods cannot.

 

This assay is intended as a qualitative method, providing information on the presence (and specific mRNA type) or absence of the BCR::ABL1 mRNA. Results from this test can be used to determine the correct subsequent assay for monitoring of transcript levels following therapy (eg, BCRAB / BCR/ABL1, p210, mRNA Detection, Reverse Transcription-PCR (RT-PCR), Quantitative, Monitoring Chronic Myeloid Leukemia (CML), Varies; BA190 / BCR/ABL1, p190, mRNA Detection, Reverse Transcription-PCR (RT-PCR), Quantitative, Monitoring Assay, Varies). Because the assay is analytically sensitive, it compensates for situations such as partially degraded RNA quality or low cell number, but it is not intended for quantitative or monitoring purposes.

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.

Interpretation
Provides information to assist in interpretation of the test results

An interpretive report will be provided.

 

When positive, the test identifies which specific messenger RNA fusion variant is present to guide selection of an appropriate monitoring assay. If common p210 or p190 fusion variant detected, quantitative reflex will be performed.

-Common fusion variants detected: e13-a2 or e14-a2 (p210), e1-a2 (p190), and e6-a2 (p205*)

-Rare fusion variants detected: e13-a3 (p210), e14-a3 (p210), e1-a3 (p190), e19-a2 (p230)

-Potential rare fusions detected: e12-a3, e19-a3

*This is formerly observed as the e6-a2 (p185) fusion form

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

No significant cautionary statements

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

1. Burmeister T, Reinhardt R. A multiplex PCR for improved detection of typical and atypical BCR-ABL fusion transcripts. Leuk Res. 2008;32(4):579-585

2. Melo JV. The diversity of BCR-ABL fusion proteins and their relationship to leukemia phenotype. Blood. 1996;88(7):2375-2384

3. Melo JV. BCR-ABL gene variants. Baillieres Clin Haematol. 1997;10(2):203-222

4. Baccarini M, Deininger MW, Rosti G, et al. European LeukemiaNet recommendations for the management of chronic myeloid leukemia: 2013. Blood. 2013;122(6):872-884

5. Cross NC, White HE, Muller MC, et al. Standardized definitions of molecular response in chronic myeloid leukemia. Leukemia. 2012;26(10):2172-2175

6. Deininger MW, Shah NP, Altman JK, et al. Chronic Myeloid Leukemia, Version 2.2021, NCCN Clinical Practice Guidelines in Oncology. J Natl Compr Canc Netw. 2020;18(10):1385-1415. doi:10.6004/jnccn.2020.0047

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

Total RNA is extracted from the patient's blood or bone marrow at the time of diagnosis and messenger RNA (mRNA) is reverse transcribed into complementary DNA (cDNA). The cDNA is then subjected to polymerase chain reaction (PCR) using 4 separate multiplex reactions. A qualitative result, which will include the relative ratio of target translocation mRNA to control GUSB gene mRNA, will be given by LightCycler 96 software. As this method employs a quantitative PCR platform, the results can be used to evaluate the relative expression levels of the translocation mRNA relative to control mRNA, thus providing an improved measure of RNA quality in the assay. Reporting of results will be qualitative; either BCR::ABL1 mRNA positive/detected (with transcript type) or negative/not detected.(Unpublished Mayo method)

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

No

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.

7 to 10 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.

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  • 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.

81208

81206

81207

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
BCRFX BCR/ABL1 Reflex, Qual/Quant 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.
MP039 Specimen Type 31208-2
48389 BCR/ABL1 Reflex Result No LOINC Needed
48388 Interpretation 69047-9

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 | PHP Pdf | CMS 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