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HelpTest ID MDSF Myelodysplastic Syndrome (MDS), FISH
Useful For
Detecting a neoplastic clone associated with the common chromosome abnormalities seen in patients with myelodysplastic syndromes or other myeloid malignancies
Evaluating specimens in which standard cytogenetic analysis is unsuccessful
Identifying and tracking known chromosome abnormalities in patients with myeloid malignancies and tracking response to therapy
Reflex Tests
| Test ID | Reporting Name | Available Separately | Always Performed |
|---|---|---|---|
| _I099 | Interphases, 25-99 | No, (Bill Only) | No |
| _I300 | Interphases, ≥100 | No, (Bill Only) | No |
| _IL25 | Interphases, <25 | No, (Bill Only) | No |
| _PADD | Probe, +1 | No, (Bill Only) | No |
| _PB02 | Probe, +2 | No, (Bill Only) | No |
| _PB03 | Probe, +3 | No, (Bill Only) | No |
| _PBCT | Probe, +2 | No, (Bill Only) | No |
Testing Algorithm
This test includes a charge for application of the first probe set (2 FISH probes) and professional interpretation of results.
Additional charges will be incurred for all reflex probes 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.
See Myelodysplastic Syndrome: Guideline to Diagnosis and Follow-up in Special Instructions.
Chromosome analysis is recommended as first-tier testing for this disorder; FISH analysis should be used if chromosome analysis is not successful.
Please indicate if the entire panel is to be performed. If the patient is being tracked for known abnormalities, indicate which probes should be used.
Panel includes testing for the following abnormalities using the probes listed:
-5/5q-, D5S630/EGR1
-7/7q-, D7S486/D7Z1
+8, D8Z2/MYC
11q23 rearrangement, MLL
13q-, D13S319/LAMP1
17p-, TP53/D17Z1
20q-, D20S108/20qter
inv(3) or t(3;3), RPN1/MECOM
-When an MLL rearrangement is identified, reflex testing will be performed to identify the translocation partner. Probes include identification of t(4;11)(q21;q23) AFF1/MLL, t(6;11)(q27;q23) MLTT4/MLL, t(9;11)(p22;q23) MLLT3/MLL, t(11;16)(q23;p13.3) MLL/CREBBP, t(11;19)(q23;p13.1) MLL/ELL, or t(11;19)(q23;p13.3) MLL/MLLT1.
-When 3 copies of MECOM are observed with no fusion with RPN1, reflex testing using the MECOM/RUNX1 probe set will be performed to identify a potential t(3;21)(q26.2;q22) rearrangement.
-When 3 copies of RPN1 are observed with no fusion with MECOM, reflex testing using the PRDM16/RPN1 probe set will be performed to identify a potential t(1;3)(p36;q21).
If this test is ordered in conjunction with AMLF / Acute Myeloid Leukemia (AML), FISH, then this test will be canceled as a duplicate since these probes are performed as part of the AMLF panel.
Special Instructions
Method Name
Fluorescence In Situ Hybridization (FISH)
Reporting Name
MDS, FISHSpecimen Type
VariesProvide a reason for referral 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.
Forms: If not ordering electronically, complete, print, and send a Hematopathology/Cytogenetics Test Request Form (T726) with the specimen (http://www.mayomedicallaboratories.com/it-mmfiles/hematopathology-request-form.pdf)
Advise Express Mail or equivalent if not on courier service.
Submit only 1 of the following specimens:
Specimen Type: Blood
Container/Tube: Green top (sodium heparin)
Specimen Volume: 7-10 mL
Collection Instructions:
1. Invert several times to mix blood.
2. Other anticoagulants are not recommended and are harmful to the viability of the cells.
Specimen Type: Bone marrow
Container/Tube: Green top (sodium heparin)
Specimen Volume: 1-2 mL
Collection Instructions:
1. Invert several times to mix bone marrow.
2. Other anticoagulants are not recommended and are harmful to the viability of the cells.
Specimen Minimum Volume
Blood: 2 mL/Bone Marrow: 1 mL
Specimen Stability Information
| Specimen Type | Temperature | Time |
|---|---|---|
| Varies | Ambient (preferred) | |
| Refrigerated | ||
Clinical Information
Myelodysplastic syndromes (MDS) primarily occur in the older adult population and have a yearly incidence of 30 in 100,000 in persons >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, 13q-, and 20q-. These abnormalities can be observed singly or in concert. In addition, MLL rearrangements, 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.
Reference Values
An interpretive report will be provided.
Cautions
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 FISH test. If bone marrow is not available, a blood specimen may be used if there are malignant cells in the blood specimen (as verified by hematopathology).
Day(s) Performed
Samples processed Monday through Sunday. Results reported Monday through Friday, 8 a.m. to 5 p.m.
Report Available
7 daysPerforming Laboratory
Mayo Medical Laboratories in Rochester
Test Classification
This test was developed using an analyte specific reagent. Its performance characteristics were determined by Mayo Clinic in a manner consistent with CLIA requirements. This test has not been cleared or approved by the U.S. Food and Drug Administration.CPT Code Information
88271x2, 88291 – DNA probe, each (first probe set), Interpretation and report
88271x2 – DNA probe, each; each additional probe set (if appropriate)
88271x1 – DNA probe, each; coverage for sets containing 3 probes (if appropriate)
88271x2 – DNA probe, each; coverage for sets containing 4 probes (if appropriate)
88271x3 – DNA probe, each; coverage for sets containing 5 probes (if appropriate)
88274 w/modifier 52 – Interphase in situ hybridization, <25 cells, each probe set (if appropriate)
88274 – Interphase in situ hybridization, 25 to 99 cells, each probe set (if appropriate)
88275 – Interphase in situ hybridization, 100 to 300 cells, each probe set (if appropriate)