Test Catalog

Test Id : IN16Q

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CBFB::MYH11 Inversion(16), Quantitative Detection and Minimal Disease Risk Monitoring, qRT-PCR, Varies

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Overview

Test Catalog

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

Detection of CBFB::MYH11 gene fusion in patients recently diagnosed with acute myeloid leukemia (AML)

 

Minimal residual disease monitoring during the clinical and therapeutic course of patients with AML

Highlights

This test is a highly sensitive quantitative assay for the detection of inv(16)(p13.1q22) or t(16;16)(p13.1;q22) CBFB::MYH11 gene fusion. This detection is useful for patients with acute myeloid leukemia at the time of diagnosis as well as for minimal residual disease monitoring during the clinical and therapeutic course of these patients.

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

Quantitative Real-Time Reverse Transcription Polymerase Chain Reaction (qRT-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

Inv(16); CBFB-MYH11, Quant, V

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

Inv(16)

T(16;16)

Inv(16)(p13.1q22)

T(16;16)(p13.1;q22)

CBFB-MYH11

AML M4 Eo

Specimen Type
Describes the specimen type validated for testing

Varies

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
MP057 Specimen Type Peripheral blood
Bone marrow

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: Blood

Container/Tube: Lavender top (EDTA) or yellow top (ACD-B)

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: Lavender top (EDTA) or yellow top (ACD-B)

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.

Forms

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
Bone marrow core biopsies
Paraffin-embedded bone marrow clots
Slides
Paraffin shavings
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
Ambient 72 hours

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

Detection of CBFB::MYH11 gene fusion in patients recently diagnosed with acute myeloid leukemia (AML)

 

Minimal residual disease monitoring during the clinical and therapeutic course of patients with AML

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

CBFB::MYH11 minimal residual disease (MRD) monitoring in patients with acute myeloid leukemia (AML) with inv(16) or t(16;16) is useful for evaluating disease response after therapy and identifying individuals with increased risk of relapse. Quantitative real-time reverse transcription polymerase chain reaction testing in neoplasms with known clonal genetic markers can achieve highly sensitive detection of neoplastic cells in peripheral blood or bone marrow specimens. It is one of the most mature technologies available for this purpose. In this assay, inversion or translocation of chromosome 16 resulting in fusion of two genes, CBFB and MYH11, will be evaluated. Quantitative results will provide physicians with an accurate and precise measurement of disease burden to guide patient intervention decisions. This assay can be used for post-therapy MRD monitoring as well as detection of CBFB::MYH11 fusion in AML patients at the time of diagnosis.

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

The assay is reported in the form of a normalized ratio of CBFB::MYH11 fusion transcript to the control gene ABL1 expressed as a percentage, which is an estimate of the level of CBFB::MYH11 fusion 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 CBFB::MYH11 detected (ie, larger numbers indicate higher relative levels of CBFB::MYH11, and smaller numbers indicate lower levels). A relative expression value minimizes variability in the RNA levels and cell numbers measured in separate specimens tested at different times.

 

The precision of the quantitative assay is excellent, but interassay variability can occur such that result changes should not be considered significant if 2 single measurements differ by less than 0.5 log. More critical results, such as a change in the status of positivity or greater or equal to 1 log increase between 2 positive samples should be repeated on a separate specimen with appropriate time interval to verify the result.

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

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

1. Krauter J1, Hoellge W, Wattjes MP, et al. Detection and quantification of CBFB/MYH11 fusion transcripts in patients with inv(16)-positive acute myeloblastic leukemia by real-time RT-PCR. Genes Chromosomes Cancer. 2001;30(4):342-348. doi:10.1002/gcc.1100

2. Dohner H, Estey E, Grimwade D, et al. Diagnosis and management of AML in adults: 2017 ELN recommendations from an international expert panel. Blood. 2017;129(4):424-447. doi:10.1182/blood-2016-08-733196

3. O'Donnell MR, Tallman MS, Abboud CN, et al. Acute Myeloid Leukemia, Version 3.2017, NCCN Clinical Practice Guidelines in Oncology. J Natl Compr Canc Netw. 2017;15(7):926-957. doi:10.6004/jnccn.2017.0116

4. Schuurhuis GJ, Heuser M, Freeman S, et al. Minimal/measurable residual disease in AML: a consensus document from the European Leukemia Net MRD Working Party. Blood. 2018;131(12):1275-1291. doi:10.1182/blood-2017-09-801498

5. Jourdan E, Boissel N, Chevret S, et al. Prospective evaluation of gene mutations and minimal residual disease in patients with core binding factor acute myeloid leukemia. Blood. 2013;121(12):2213-2223. doi:10.1182/blood-2012-10-462879

6. Lane S, Saal R, Mollee P, et al. A > or =1 log rise in RQ-PCR transcript levels defines molecular relapse in core binding factor acute myeloid leukemia and predicts subsequent morphologic relapse. Leuk Lymphoma. 2008;49(3):517-523. doi:10.1080/10428190701817266

7. Yin JA, O'Brien MA, Hills RK, Daly SB, Wheatley K, Burnett AK. Minimal residual disease monitoring by quantitative RT-PCR in core binding factor AML allows risk stratification and predicts relapse: results of the United Kingdom MRC AML-15 trial. Blood. 2012;120(14):2826-2835. doi:10.1182/blood-2012-06-435669

8. Corbacioglu A, Scholl C, Schlenk RF, et al. Prognostic impact of minimal residual disease in CBFB-MYH11-positive acute myeloid leukemia. J Clin Oncol. 2010;28(23):3724-3729. doi: 10.1200/JCO.2010.28.6468

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 reverse transcription polymerase chain reaction is performed using the LightCycler instrument platform, and the data analyzed using the dedicated software for relative quantification with calibrator normalization. Results are provided as a normalized relative value of CBFB::MYH11::ABL1 messenger RNA transcripts with a reproducible analytical sensitivity of 0.01%.(Unpublished Mayo method)
The normalized ratio is a relative quantification calculation as follows: 

Normalized ratio=

CBFB::MYH11 (sample)/ABL1 (sample)

CBFB::MYH11 (run calibrator)/ABL1 (run calibrator)

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.

81401-CBFB-MYH11

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
IN16Q Inv(16); CBFB-MYH11, Quant, V 101377-0
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.
MP057 Specimen Type 31208-2
610267 Interpretation In Process
614375 Signing Pathologist 19139-5

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