Test Catalog

Test Id : BADX

BCR/ABL1, Qualitative, Diagnostic Assay, Varies

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

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

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

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

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, RNA-Qual, Diagnostic

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

Philadelphia chromosome Ph bone marrow/blood

Acute lymphoblastic leukemia (ALL)

Acute myeloid leukemia (AML)

BCR-ABL1

BCR ABL

BCR/ABL

B lymphoblastic leukemia (B-ALL)

Chronic myelogenous leukemia (CML)

Chronic myeloid leukemia

T lymphoblastic leukemia (T-ALL)

t(9;22)

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 test is only qualitative and should not be used for routine monitoring (ie, quantitative messenger RNA [mRNA] level).

 

Monitoring of most patients with chronic myeloid leukemia (CML) should be performed using BCRAB / BCR/ABL, p210, mRNA Detection, Reverse Transcription-PCR (RT-PCR), Quantitative, Monitoring Chronic Myelogenous Leukemia (CML), Varies.

 

Monitoring of patients known to carry a p190 fusion should be performed using BA190 / BCR/ABL, p190, mRNA Detection, Reverse Transcription-PCR (RT-PCR), Quantitative, Monitoring Assay, Varies.

 

For information on which test to order for various scenarios, see BCR/ABL1 Ordering Guide for Blood and Bone Marrow

Shipping Instructions

Refrigerate specimens must arrive within 5 days of collection, and ambient specimens must arrive with 3 days (72 hours) of collection. Collect and package specimens as close to shipping time as possible.

Necessary Information

The following information is required:

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

2. Date of collection

3. Specimen source (blood or bone marrow)

ORDER QUESTIONS AND ANSWERS

Question ID Description Answers
MP001 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

Peripheral 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
Other Moderately to severely clotted

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

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

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

The t(9;22)/BCR-ABL1 abnormality is associated with chronic myeloid 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-lymphoblastic leukemia/lymphoma. The fusion gene on the derivative chromosome 22q11 produces a chimeric BCR-ABL1 mRNA transcript and corresponding translated oncoprotein. Despite substantial breakpoint heterogeneity at the DNA level, a consistent set of BCR-ABL1 messenger RNA (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 more 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 cannot be done by complementary methods.

 

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/ABL, 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.

A qualitative result is provided that indicates the presence or absence of BCR/ABL1 messenger RNA. When positive, the fusion variant is also reported.

Interpretation
Provides information to assist in interpretation of the test results

An interpretive report will be provided.

 

When positive, the test identifies the specific messenger RNA fusion variant present to guide selection of an appropriate monitoring assay.

Monitoring is available for common p210 or p190 fusion variant detected.

-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 Apr;32(4):579-585

2. Melo JV: The diversity of BCR-ABL fusion proteins and their relationship to leukemia phenotype. Blood. 1996 Oct 1;88(7):2375-2384

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

4. Tefferi A: The classic myeloproliferative neoplasms: Chronic myelogenous leukemia, polycythemia vera, essential thrombocythemia, and primary myelofibrosis. In: Valle DL, Antonarakis S, Ballabio A, Beaudet AL, Mitchell GA, eds. The Online Metabolic and Molecular Bases of Inherited Disease. McGraw-Hill; 2019, Accessed March 16, 2022. Available at https://ommbid.mhmedical.com/content.aspx?sectionid=225078035&bookid=2709

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

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 provided. Although 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.

5 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.

  • 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 Regional Manager. 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. This test 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.

81206

81207

81208

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
BADX BCR/ABL1, RNA-Qual, Diagnostic 55135-8
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.
MP001 Specimen Type 31208-2
19783 Interpretation 69047-9
39466 Diagnostic BCR/ABL1 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

Test Update Resources

Change Type Effective Date
Test Changes - Specimen Information 2022-04-27