Test Catalog

Test Id : MFCDF

Myeloma, High Risk with Reflex Probes, Diagnostic FISH Evaluation, Fixed Cell Pellet

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

Aiding in the diagnosis of new cases of multiple myeloma or other plasma cell proliferative disorders using a fixed cell pellet derived from bone marrow

 

Identifying prognostic markers based on the abnormalities found

 

This test should not be used to track the progression of disease.

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
MFCDB Probe, Each Additional (MFCDF) No, Bill Only No

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

This test includes a charge for the probe application, analysis, and professional interpretation of results for 3 probe sets (6 individual fluorescence in situ hybridization [FISH] probes). Additional charges will be incurred for all reflex or additional probe sets performed.

 

This test is designed for diagnostic bone marrow specimens from patients with multiple myeloma or other plasma cell proliferative disorders. Best results are obtained when the bone marrow demonstrates at least 20% involvement by a plasma cell proliferative disorder.

The FISH panel includes testing for the following abnormalities using the FISH probes listed:

 

For diagnostic samples, the following probes will be evaluated:

17p-, TP53/D17Z1

1q gain, TP73/1q22

14q32 rearrangement, IGH break-apart 

Based on the results from the initial panel, reflex testing may be performed to identify the following abnormalities using the probes listed:

t(11;14)(q13;q32), CCND1/IGH fusion

t(14;16)(q32;q23), IGH/MAF fusion

t(4;14)(p16.3;q32), FGFR3/IGH fusion

t(14;20)(q32;q12), IGH/MAFB fusion 

 

For follow-up samples, the following probes will be evaluated if sufficient plasma cells are identified:

If a previous diagnostic sample was uninformative for a probe set, attempts may be made to achieve results for the missing probe on a subsequent sample.

17p-, TP53/D17Z1

1q gain, TP73/1q22

8q24.1 rearrangement, MYC break-apart

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

Fluorescence In Situ Hybridization (FISH)

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

Myeloma Fixed Cell, High Risk, FISH

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

+1q or 1q22

17p- (17p deletion) or TP53

IGH (14q32) rearrangement

MYC(8q24.1) rearrangement

Monoclonal Gammopathy of Undetermined Significance (MGUS)

Multiple Myeloma

Plasma Cell Leukemia

t(11;14) - CCND1/IGH

t(14;16) - IGH/MAF

t(14;20) - IGH/MAFB

t(4;14) - FGFR3/IGH

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

This test includes a charge for the probe application, analysis, and professional interpretation of results for 3 probe sets (6 individual fluorescence in situ hybridization [FISH] probes). Additional charges will be incurred for all reflex or additional probe sets performed.

 

This test is designed for diagnostic bone marrow specimens from patients with multiple myeloma or other plasma cell proliferative disorders. Best results are obtained when the bone marrow demonstrates at least 20% involvement by a plasma cell proliferative disorder.

The FISH panel includes testing for the following abnormalities using the FISH probes listed:

 

For diagnostic samples, the following probes will be evaluated:

17p-, TP53/D17Z1

1q gain, TP73/1q22

14q32 rearrangement, IGH break-apart 

Based on the results from the initial panel, reflex testing may be performed to identify the following abnormalities using the probes listed:

t(11;14)(q13;q32), CCND1/IGH fusion

t(14;16)(q32;q23), IGH/MAF fusion

t(4;14)(p16.3;q32), FGFR3/IGH fusion

t(14;20)(q32;q12), IGH/MAFB fusion 

 

For follow-up samples, the following probes will be evaluated if sufficient plasma cells are identified:

If a previous diagnostic sample was uninformative for a probe set, attempts may be made to achieve results for the missing probe on a subsequent sample.

17p-, TP53/D17Z1

1q gain, TP73/1q22

8q24.1 rearrangement, MYC break-apart

Specimen Type
Describes the specimen type validated for testing

Fixed Cell Pellet Bone Marrow

Ordering Guidance

For the most complete genetic evaluation on fresh bone marrow specimens, order MPCDS / mSMART, Plasma Cell Proliferative Disorder, FISH, Bone Marrow.

For evaluation of high-risk abnormalities plus CCND1/IGH fusion on fresh bone marrow specimens, order PCPDS / Plasma Cell Proliferative Disorder, High Risk with Reflex Probes, Diagnostic FISH Evaluation, Bone Marrow.

 

For testing paraffin-embedded tissue samples from patients with a plasma cell disorder, order PLASF / Plasma Cell Proliferative Disorder, FISH, Tissue.

 

Testing will be changed to the appropriate test if this test is ordered on paraffin or a fresh bone marrow specimen.

Shipping Instructions

Advise Express Mail or equivalent if not on courier service.

Necessary Information

A reason for testing and a flow cytometry and/or a bone marrow pathology report should be sent 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. If this information is not provided, an appropriate indication for testing may be entered by Mayo Clinic Laboratories.

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

Container/Tube: Sterile container

Specimen Volume: 1 Fixed cell pellet

Collection Instructions: Place specimen in a sterile container with a 3:1 methanol:glacial acetic acid (or similar) fixative.

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

All specimens will be evaluated at Mayo Clinic Laboratories for test suitability.

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
Fixed Cell Pellet Bone Marrow Ambient (preferred)
Refrigerated

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

Aiding in the diagnosis of new cases of multiple myeloma or other plasma cell proliferative disorders using a fixed cell pellet derived from bone marrow

 

Identifying prognostic markers based on the abnormalities found

 

This test should not be used to track the progression of disease.

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

This test includes a charge for the probe application, analysis, and professional interpretation of results for 3 probe sets (6 individual fluorescence in situ hybridization [FISH] probes). Additional charges will be incurred for all reflex or additional probe sets performed.

 

This test is designed for diagnostic bone marrow specimens from patients with multiple myeloma or other plasma cell proliferative disorders. Best results are obtained when the bone marrow demonstrates at least 20% involvement by a plasma cell proliferative disorder.

The FISH panel includes testing for the following abnormalities using the FISH probes listed:

 

For diagnostic samples, the following probes will be evaluated:

17p-, TP53/D17Z1

1q gain, TP73/1q22

14q32 rearrangement, IGH break-apart 

Based on the results from the initial panel, reflex testing may be performed to identify the following abnormalities using the probes listed:

t(11;14)(q13;q32), CCND1/IGH fusion

t(14;16)(q32;q23), IGH/MAF fusion

t(4;14)(p16.3;q32), FGFR3/IGH fusion

t(14;20)(q32;q12), IGH/MAFB fusion 

 

For follow-up samples, the following probes will be evaluated if sufficient plasma cells are identified:

If a previous diagnostic sample was uninformative for a probe set, attempts may be made to achieve results for the missing probe on a subsequent sample.

17p-, TP53/D17Z1

1q gain, TP73/1q22

8q24.1 rearrangement, MYC break-apart

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

Multiple myeloma is a hematologic neoplasm that generally originates in the bone marrow and develops from malignant plasma cells. There are 4 main categories of plasma cell proliferative disorders: monoclonal gammopathy of undetermined significance (MGUS), monoclonal immunoglobulin deposition diseases (amyloidosis), plasmacytoma, and multiple myeloma. MGUS, which occurs in 3% to 4% of individuals over 50 years of age, represents the identification of an asymptomatic monoclonal protein, yet approximately 1% per year will progress to multiple myeloma. Amyloidosis represents a rare group of deposition disorders including primary amyloidosis vs. light chain and heavy chain disease. Plasmacytomas represent isolated collections of bone or extramedullary plasma cells with a risk for development of multiple myeloma. Generalized bone pain, anemia, limb numbness, or weakness, symptoms of hypercalcemia, and recurrent infections are all symptoms that may indicate multiple myeloma.

 

 As myeloma progresses, the malignant plasma cells interfere with normal blood product formation in the bone marrow resulting in anemia and leukopenia. Myeloma also causes an overstimulation of osteoclasts, causing excessive breakdown of bone tissue without the normal corresponding bone formation. These bone lesions are seen in approximately 66% of myeloma patients. In advanced disease, bone loss may reach a degree where the patient suffers fractures easily.

 

 Multiple myeloma is increasingly recognized as a disease characterized by marked cytogenetic, molecular, and proliferative heterogeneity. This heterogeneity is manifested clinically by varying degrees of disease aggressiveness. Multiple myeloma patients with more aggressive disease experience suboptimal responses to some therapeutic approaches; therefore, identifying these patients is critically important for selecting appropriate treatment options.

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

A neoplastic clone is detected when the percent of cells with an abnormality exceeds the normal reference range for any given probe.

 

The absence of an abnormal clone does not rule out the presence of neoplastic disorder.

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

This test is not approved by the US Food and Drug Administration, and it is best used as an adjunct to existing clinical and pathologic information.

Supportive Data

Each probe was independently tested and verified on unstimulated peripheral blood and bone marrow specimens. Normal cutoffs were calculated based on the results of 25 normal specimens. Each probe set was evaluated to confirm the probe set detected the abnormality it was designed to detect.

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

1. Swerdlow S, Campo E, Harris NL, et al, eds: WHO Classification of Tumours of Haematopoietic and Lymphoid Tissues. IARC Press; 2017

2. Kumar SK, Rajkumar SV: The multiple myelomas-current concepts in cytogenetic classification and therapy. Nat Rev Clin Oncol. 2018;15(7):409-421. doi: 10.1038/s41571-018-0018-y

3. Rajkumar SV, Landgren O, Mateos MV: Smoldering multiple myeloma. Blood. 2015 May 14;125(20):3069-3075. doi: 10.1182/blood-2014-09-568899

4. Muchtar E, Dispenzieri A, Kumar S, et al: Interphase fluorescence in situ hybridization in untreated AL amyloidosis has an independent prognostic impact by abnormality type and treatment category. Leukemia. 2017 Jul;31(7);1562-1569. doi: 10.1038/leu.2016.369

5. Lakshman A, Paul S, Rajkumar SV, et al: Prognostic significance of interphase FISH in monoclonal gammopathy of undetermined significance. Leukemia. 2018 Aug;32(8);1811-1815. doi: 10.1038/s41375-018-0030-3

6. Bochtler T, Hegenbart U, Kunz C, et al: Prognostic impact of cytogenetic aberrations in AL amyloidosis patients after high-dose melphalan: a long-term follow-up study. Blood. 2016 Jul 28;128(4):594-602. doi: 10.1182/blood-2015-10-7

7. Treatment guidelines: multiple myeloma. mSMART 3.0. Accessed 01/16/2020. Available at www.msmart.org/mm-treatment-guidelines

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

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 Friday

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

4 weeks

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.

88271x6, 88275x3, 88291 x1-FISH Probe, Analysis, Interpretation; 3 probe sets

88271x2, 88275x1-FISH Probe, Analysis; each additional probe set (if appropriate)

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