Test Id : MDSDF
Myelodysplastic Syndrome (MDS), Diagnostic FISH, Varies
Useful For
Suggests clinical disorders or settings where the test may be helpful
Detecting recurrent common chromosome abnormalities associated with myelodysplastic syndromes or other myeloid malignancies using a panel
As an adjunct to conventional chromosome studies in patients with MDS
Evaluating specimens in which chromosome studies are unsuccessful
Identifying and tracking known chromosome abnormalities in patients with MDS and monitoring response to therapy
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 |
|---|---|---|---|
| MDSDB | Probe, Each Additional (MDSDF) | 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 6 probe sets (12 individual fluorescence in situ hybridization [FISH] probes). Additional charges will be incurred for all reflex or additional probe sets performed. Analysis charges will be incurred based on the number of cells analyzed per probe set. If no cells are available for analysis, no analysis charges will be incurred.
This test is performed as panel testing only using the following analysis algorithm.
The panel includes testing for the following abnormalities using the probes listed:
inv(3) or t(3;3) or GATA2::MECOM fusion, GATA2/MECOM probe set
-5/5q-, D5S630/EGR1 probe set
-7/7q-, D7Z1/D7S486
+8, D8Z2/MYC probe set
-17/17p-, TP53/D17Z1 probe set
-20/20q-, D20S108/20qter probe set
Appropriate ancillary probes may be performed at consultant discretion to render comprehensive assessment. Any additional probes used will have the results included within the final report and will be performed at an additional charge. In the following situations, additional (reflex) testing may be performed at the laboratory's discretion and may be influenced by available karyotype results or other FISH testing.
In the absence of GATA2::MECOM fusion, when an extra GATA2 signal is identified, testing using the PRDM16/GATA2 probe set may be performed to identify a potential t(1;3)(p36;q21).
In the absence of GATA2::MECOM fusion, when an extra MECOM signal is identified, testing using the break-apart MECOM probe set may be performed to identify a potential variant translocation involving MECOM, t(3;var)(q26.2;?).
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.
Reporting Name
Lists a shorter or abbreviated version of the Published Name for a test
Aliases
Lists additional common names for a test, as an aid in searching
Isodicentric 20q-idic(20)
Myeloproliferative neoplasms (MPN)
inv(3)(q21q26)-GATA2::MECOM, GATA2/MECOM, RPN1/MECOM or RPN1/EVI1
t(3;3)(q21;q26)-GATA2::MECOM, GATA2/MECOM, RPN1/MECOM or RPN1/EVI1
t(1;3)(p36;q21)-GATA2::PRDM16, PRDM16/GATA2 or PRDM16/RPN1
MECOM (3q26.2) rearrangement
-5 (monosomy 5)
5q- (5q deletion)
-7 (monosomy 7)
7q- (7q deletion)
+8/trisomy 8
17p- (17p deletion) or TP53
-20 (monosomy 20)
20q- (20q deletion)
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 6 probe sets (12 individual fluorescence in situ hybridization [FISH] probes). Additional charges will be incurred for all reflex or additional probe sets performed. Analysis charges will be incurred based on the number of cells analyzed per probe set. If no cells are available for analysis, no analysis charges will be incurred.
This test is performed as panel testing only using the following analysis algorithm.
The panel includes testing for the following abnormalities using the probes listed:
inv(3) or t(3;3) or GATA2::MECOM fusion, GATA2/MECOM probe set
-5/5q-, D5S630/EGR1 probe set
-7/7q-, D7Z1/D7S486
+8, D8Z2/MYC probe set
-17/17p-, TP53/D17Z1 probe set
-20/20q-, D20S108/20qter probe set
Appropriate ancillary probes may be performed at consultant discretion to render comprehensive assessment. Any additional probes used will have the results included within the final report and will be performed at an additional charge. In the following situations, additional (reflex) testing may be performed at the laboratory's discretion and may be influenced by available karyotype results or other FISH testing.
In the absence of GATA2::MECOM fusion, when an extra GATA2 signal is identified, testing using the PRDM16/GATA2 probe set may be performed to identify a potential t(1;3)(p36;q21).
In the absence of GATA2::MECOM fusion, when an extra MECOM signal is identified, testing using the break-apart MECOM probe set may be performed to identify a potential variant translocation involving MECOM, t(3;var)(q26.2;?).
Specimen Type
Describes the specimen type validated for testing
Varies
Ordering Guidance
Chromosome analysis is recommended as first-tier testing; order either CHRBM / Chromosome Analysis, Hematologic Disorders, Bone Marrow, or CHRHB / Chromosome Analysis, Hematologic Disorders, Blood. This second-tier test should only be ordered if chromosome analysis is not successful, as it does not increase the sensitivity for detection of myelodysplastic syndrome (MDS) for classic abnormalities (ie, -5/5q-, -7/7q-). If this test is ordered concurrently with a chromosomal study (CHRBM or CHRHB), testing will be held pending the results of the chromosome test. If the chromosome results are complete and informative, this test will be canceled. If the chromosome results are complete and normal, this test will be canceled. If a complete chromosome study is not achieved (<20 metaphases), this test will proceed. If an ambiguous abnormality (may include nonclonal abnormality or unresolved structural abnormality) is observed and targeted MDS probes could be useful in characterizing the abnormality, this test will be canceled and reordered with appropriate probes as MDSMF / Myelodysplastic Syndrome (MDS), Specified FISH, Varies.
This test should not be used to screen for residual MDS. If the patient is being treated for known abnormalities, MDSMF / Myelodysplastic Syndrome (MDS), Specified FISH, Varies is the more appropriate test order.
If targeted MDS fluorescence in situ hybridization (FISH) probes are preferred, order MDSMF / Myelodysplastic Syndrome (MDS), Specified FISH and request specific probes for targeted abnormalities.
This test is intended for instances when the entire MDS FISH panel is needed as a second-tier test. If limited MDS FISH probes are preferred, order MDSMF.
If this test is ordered in conjunction with AMLFA / Adult Acute Myeloid Leukemia Panel, FISH, Varies or AMLFP / Pediatric Acute Myeloid Leukemia Panel, FISH, Varies, it will be canceled and reordered as MDSMF to avoid duplicate FISH probe testing.
Shipping Instructions
Advise Express Mail or equivalent if not on courier service.
Necessary Information
1. A reason for testing must be provided. If this information is not provided, an appropriate indication for testing may be entered by Mayo Clinic Laboratories.
2. A flow cytometry and/or a bone marrow pathology report 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.
ORDER QUESTIONS AND ANSWERS
| Question ID | Description | Answers |
|---|---|---|
| GC121 | Reason for Referral | |
| GC122 | Specimen |
Whole blood ACD Bone marrow ACD Whole blood Na Hep Bone marrow Na Hep Whole blood EDTA Bone marrow EDTA |
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:
Preferred
Specimen Type: Bone marrow
Container/Tube:
Preferred: Yellow top (ACD)
Acceptable: Green top (sodium heparin) or lavender top (EDTA)
Specimen Volume: 2 to 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.
3. Send bone marrow in original tube. Do not aliquot.
Acceptable
Specimen Type: Whole blood
Container/Tube:
Preferred: Yellow top (ACD)
Acceptable: Green top (sodium heparin) or lavender top (EDTA)
Specimen Volume: 6 mL
Collection Instructions:
1. Invert several times to mix blood.
2. Send whole blood in original tube. Do not aliquot.
Forms
If not ordering electronically, complete, print, and send an 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. The minimum volume is sufficient for one attempt at testing.
Bone marrow: 1 mL; Whole blood: 2 mL
Reject Due To
Identifies specimen types and conditions that may cause the specimen to be rejected
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 recurrent common chromosome abnormalities associated with myelodysplastic syndromes or other myeloid malignancies using a panel
As an adjunct to conventional chromosome studies in patients with MDS
Evaluating specimens in which chromosome studies are unsuccessful
Identifying and tracking known chromosome abnormalities in patients with MDS and monitoring response to therapy
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 6 probe sets (12 individual fluorescence in situ hybridization [FISH] probes). Additional charges will be incurred for all reflex or additional probe sets performed. Analysis charges will be incurred based on the number of cells analyzed per probe set. If no cells are available for analysis, no analysis charges will be incurred.
This test is performed as panel testing only using the following analysis algorithm.
The panel includes testing for the following abnormalities using the probes listed:
inv(3) or t(3;3) or GATA2::MECOM fusion, GATA2/MECOM probe set
-5/5q-, D5S630/EGR1 probe set
-7/7q-, D7Z1/D7S486
+8, D8Z2/MYC probe set
-17/17p-, TP53/D17Z1 probe set
-20/20q-, D20S108/20qter probe set
Appropriate ancillary probes may be performed at consultant discretion to render comprehensive assessment. Any additional probes used will have the results included within the final report and will be performed at an additional charge. In the following situations, additional (reflex) testing may be performed at the laboratory's discretion and may be influenced by available karyotype results or other FISH testing.
In the absence of GATA2::MECOM fusion, when an extra GATA2 signal is identified, testing using the PRDM16/GATA2 probe set may be performed to identify a potential t(1;3)(p36;q21).
In the absence of GATA2::MECOM fusion, when an extra MECOM signal is identified, testing using the break-apart MECOM probe set may be performed to identify a potential variant translocation involving MECOM, t(3;var)(q26.2;?).
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. 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. In addition, t(1;3) and t(3;21) are more frequently associated with secondary MDS.
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.
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.
Fluorescence in situ hybridization (FISH) is not a substitute for conventional chromosome studies because the latter detects chromosome abnormalities associated with other hematological disorders that would go undetected in a targeted myelodysplastic syndromes FISH panel test.
Bone marrow is the preferred specimen type for this 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).
If no FISH signals are observed post-hybridization, the case will be released indicating a lack of FISH results.
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;137(3):193-205
2. Swerdlow SH, Campo E, Harris NL, et al, eds. WHO Classification of Tumours of Haematopoietic and Lymphoid Tissues. 4th ed. IARC Press; 2017. WHO Classification of Tumours. Vol 2
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;146(1):86-94. doi:10.1093/ajcp/aqw077
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, 17 and 20, and trisomy of chromosome 8 are detected using enumeration strategy probe sets. Rearrangements involving MECOM are detected using a dual-color break-apart (BAP) strategy probe set. Dual-color, dual-fusion fluorescence in situ hybridization (D-FISH) strategy probe sets are used to detect inv(3) and t(1;3). For the enumeration and BAP strategy probe sets, 100 interphase nuclei are scored; 200 interphase nuclei are scored when D-FISH probes are used. All 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
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.
Specimen Retention Time
Outlines the length of time after testing that a specimen is kept in the laboratory before it is discarded
Performing Laboratory Location
Indicates the location of the laboratory that performs the test
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.
CPT codes are provided by the performing laboratory.
88271 x 12, 88275 x 6, 88291-FISH Probe, Analysis, Interpretation; 6 probe sets
88271 x 2, 88275-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 |
|---|---|---|
| MDSDF | MDS, Diagnostic FISH | 62367-8 |
| 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.
|
|---|---|---|
| 614278 | Result Summary | 50397-9 |
| 614279 | Interpretation | 69965-2 |
| 614280 | Result Table | 93356-4 |
| 614281 | Result | 62356-1 |
| GC121 | Reason for Referral | 42349-1 |
| GC122 | Specimen | 31208-2 |
| 614282 | Source | 31208-2 |
| 614283 | Method | 85069-3 |
| 614284 | Additional Information | 48767-8 |
| 614285 | Disclaimer | 62364-5 |
| 614286 | Released By | 18771-6 |