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Test Code MDSMF Myelodysplastic Syndrome (MDS), Specified FISH, 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.



Specimen Required


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.


Useful For

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

Method Name

Fluorescence In Situ Hybridization (FISH)

Reporting Name

MDS, Specified FISH

Specimen Type

Varies

Specimen Minimum Volume

Blood: 2 mL
Bone Marrow: 1 mL

Specimen Stability Information

Specimen Type Temperature Time Special Container
Varies Ambient (preferred)
  Refrigerated 

Reject Due To

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

Clinical Information

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

An interpretive report will be provided.

Day(s) Performed

Monday through Friday

Report Available

7 to 10 days

Performing Laboratory

Mayo Clinic Laboratories in Rochester

Test Classification

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

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)

Forms

If not ordering electronically, complete, print, and send an Hematopathology/Cytogenetics Test Request (T726) with the specimen.