Test Catalog

Test Id : MDSMF

Myelodysplastic Syndrome (MDS), Specified FISH, Varies

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

Detecting a neoplastic clone associated with the common chromosome abnormalities seen in patients with myelodysplastic syndromes or other myeloid malignancies using client specified probes

 

Evaluating specimens in which standard cytogenetic analysis is unsuccessful

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
MDSMB Probe, Each Additional (MDSMF) 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 1 probe set (2 individual fluorescence in situ hybridization probes). Additional charges will be incurred for all additional probe sets performed.

 

If the patient is being treated for known abnormalities, indicate the abnormality and which probes should be used.

 

When specified, any of the following probes will be performed:

inv(3) or t(3;3), RPN1/MECOM

t(1;3)(p36;q21), PRDM16/RPN1

t(3;21)(q26.2;q22), MECOM/RUNX1

-5/5q-, D5S630/EGR1

-7/7q-, D7S486/D7Z1

+8, D8Z2/MYC

17p-, TP53/D17Z1

-20/20q-, D20S108/20qter

 

Myelodysplastic Syndrome: Guideline to Diagnosis and Follow-up is available, see in Special Instructions.

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

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

MDS, Specified FISH

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

+8 (trisomy 8)

-5 (monosomy 5)

-7 (monosomy 7)

17p- (17p deletion) or TP53

20q- (20q deletion)

5q- (5p deletion)

7q- (7q deletion)

inversion 3 - inv(3) - RPN1/MECOM or RPN1/EVI1

Isodicentric 20q - idic(20)

Myeloproliferative neoplasms (MPN)

t(1;3)(p36.3;q21.3) - PRDM16/RPN1

t(3;21)(q26.2;q22) - MECOM/RUNX1or EVI1/AML1

t(3;3)(q21.3;q26.2) - RPN1/MECOM or RPN1/EVI1

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 1 probe set (2 individual fluorescence in situ hybridization probes). Additional charges will be incurred for all additional probe sets performed.

 

If the patient is being treated for known abnormalities, indicate the abnormality and which probes should be used.

 

When specified, any of the following probes will be performed:

inv(3) or t(3;3), RPN1/MECOM

t(1;3)(p36;q21), PRDM16/RPN1

t(3;21)(q26.2;q22), MECOM/RUNX1

-5/5q-, D5S630/EGR1

-7/7q-, D7S486/D7Z1

+8, D8Z2/MYC

17p-, TP53/D17Z1

-20/20q-, D20S108/20qter

 

Myelodysplastic Syndrome: Guideline to Diagnosis and Follow-up is available, see in Special Instructions.

Specimen Type
Describes the specimen type validated for testing

Varies

Ordering Guidance

This test uses targeted myelodysplastic syndrome (MDS) fluorescence in situ hybridization (FISH) probes to evaluate specific abnormalities or abnormalities identified in the diagnostic sample. The FISH probes to be analyzed must be specified on the request, otherwise test processing may be delayed in order to determine the intended analysis. If specific probes are not included with this test order, the test may be canceled and automatically reordered by the laboratory as MDSDF / Myelodysplastic Syndrome (MDS), Diagnostic FISH, Varies.

 

If the entire MDS FISH panel is preferred, order MDSDF / Myelodysplastic Syndrome (MDS), Diagnostic FISH, Varies.

 

At diagnosis, conventional cytogenetic studies should be performed. For more information see CHRBM / Chromosome Analysis, Hematologic Disorders, Bone Marrow.

Shipping Instructions

Advise Express Mail or equivalent if not on courier service.

Necessary Information

1. A list of probes requested for analysis is required. Probes available for this test are listed in the Testing Algorithm section.

2. A reason for testing should be submitted 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.

3. A pathology and/or flow cytometry report may be requested by the laboratory to optimize testing and aid in interpretation of results.

ORDER QUESTIONS AND ANSWERS

Question ID Description Answers
GC124 Reason for Referral
GC125 Probes Requested
GC126 Specimen Whole blood ACD
Bone marrow ACD

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

Preferred

Specimen Type: Bone marrow

Container/Tube:

Preferred: Yellow top (ACD)

Acceptable: Green top (heparin) or lavender top (EDTA)

Specimen Volume: 2-3 mL

Collection Instructions:

1. It is preferable to send the first aspirate from the bone marrow collection.

2. Invert several times to mix bone marrow.

 

Acceptable

Specimen Type: Blood

Container/Tube:

Preferred: Yellow top (ACD)

Acceptable: Green top (heparin) or lavender top (EDTA)

Specimen Volume: 6 mL

Collection Instructions: Invert several times to mix blood.

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

Specimen Minimum Volume
Defines the amount of sample necessary to provide a clinically relevant result as determined by the Testing Laboratory

Blood: 2 mL

Bone Marrow: 1 mL

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
Varies Ambient (preferred)
Refrigerated

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

Detecting a neoplastic clone associated with the common chromosome abnormalities seen in patients with myelodysplastic syndromes or other myeloid malignancies using client specified probes

 

Evaluating specimens in which standard cytogenetic analysis is unsuccessful

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 1 probe set (2 individual fluorescence in situ hybridization probes). Additional charges will be incurred for all additional probe sets performed.

 

If the patient is being treated for known abnormalities, indicate the abnormality and which probes should be used.

 

When specified, any of the following probes will be performed:

inv(3) or t(3;3), RPN1/MECOM

t(1;3)(p36;q21), PRDM16/RPN1

t(3;21)(q26.2;q22), MECOM/RUNX1

-5/5q-, D5S630/EGR1

-7/7q-, D7S486/D7Z1

+8, D8Z2/MYC

17p-, TP53/D17Z1

-20/20q-, D20S108/20qter

 

Myelodysplastic Syndrome: Guideline to Diagnosis and Follow-up is available, see in Special Instructions.

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

Myelodysplastic syndromes (MDS) primarily occur in the older adult population and have a yearly incidence of 30 in 100,000 in persons older than 70 years of age. These disorders are typically associated with a hypercellular bone marrow and low peripheral blood counts, and with significant morbidity and mortality. The eventual clinical outcome for patients with MDS relates to either bone marrow failure or transformation to acute myeloid leukemia. MDS can be either primary (de novo) or secondary (due to previous treatment with alkylating or etoposide chemotherapy, with or without radiation).

 

Cytogenetic studies can provide confirmatory evidence of clonality in MDS and can be used to provide clinical prognostic or diagnostic information. Clonal cytogenetic abnormalities are more frequently observed in cases of secondary MDS (80% of patients) than in primary MDS (40%-60% of patients). The common chromosomal abnormalities associated with MDS include: inv(3), -5/5q-, -7/7q-, +8, and 20q-. These abnormalities can be observed singly or in concert.

 

Conventional chromosome analysis is the gold standard for identification of the common, recurrent chromosome abnormalities in MDS; however, some of the subtle rearrangements associated with secondary MDS can be missed.

 

Fluorescence in situ hybridization (FISH) analysis of nonproliferating (interphase) cells can be used to detect the common diagnostic and prognostic chromosome abnormalities observed in patients with MDS. When recurrent translocations or inversions are identified, FISH testing can also be used to track response to therapy.

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 a 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.

 

Bone marrow is the preferred specimen type for this fluorescence in situ hybridization (FISH) test. If bone marrow is not available, a blood specimen may be used if there are neoplastic cells in the blood specimen (as verified by a hematopathologist).

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. Bernasconi P, Klersy C, Boni M, et al: World Health Organization classification in combination with cytogenetic markers improves the prognostic stratification of patients with de novo primary myelodysplastic syndromes. Br J Haematol. 2007 May;137(3):193-205

2. Swerdlow SH, Campo E, Harris NL, et al, eds: WHO Classification of Tumour of Haematopoietic and Lymphoid Tissues. 4th ed. IARC Press; 2017

3. He R, Wiktor AE, Durnick DK, et al: Bone marrow conventional karyotyping and fluorescence in situ hybridization: Defining an effective utilization strategy for evaluation of myelodysplastic syndromes. Am J Clin Pathol. 2016 July;146(1):86-94. doi: 10.1093/ajcp/aqw077

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

This test is performed using commercially available and laboratory-developed probes. Deletion or monosomy of chromosomes 5, 7, trisomy of chromosome 8, and deletion or rearrangement of chromosomes 17 and 20 are detected using enumeration strategy probes. Dual-color, dual-fusion fluorescence in situ hybridization (D-FISH) strategy probe sets are used to detect inv(3), t(3;21), and t(1;3). For the enumeration probe sets, 100 interphase nuclei are scored; 200 interphase nuclei are scored when D-FISH probes are used. Results are expressed as the percent abnormal nuclei.(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 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.

88271 x2, 88275 x1, 88291 x1- FISH Probe, Analysis, Interpretation; 1 probe set

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

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
MDSMF MDS, Specified FISH Obsolete
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.
614289 Result Summary 50397-9
614290 Interpretation 69965-2
614291 Result Table 93356-4
614292 Result 62356-1
GC124 Reason for Referral 42349-1
GC125 Probes Requested 78040-3
GC126 Specimen 31208-2
614293 Source 31208-2
614294 Method 85069-3
614295 Additional Information 48767-8
614296 Disclaimer 62364-5
614297 Released By 18771-6

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
New Test 2022-11-15