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


Ordering Guidance


This test is intended for instances when limited myelodysplastic syndrome (MDS) fluorescence in situ hybridization (FISH) probes are needed based on specific abnormalities or abnormalities identified in the diagnostic sample. The FISH probes to be analyzed must be specified on the ordering request. If targeted FISH probes are not included with this test order, test processing will be delayed and the test may be canceled and automatically reordered by the laboratory as MDSDF / Myelodysplastic Syndrome (MDS), Diagnostic FISH, Varies.

 

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 MDS for classic abnormalities (ie, -5/5q-, -7/7q-).

 

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



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.



Specimen Required


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.


Useful For

Detecting recurrent common chromosome abnormalities associated with myelodysplastic syndromes (MDS) or other myeloid malignancies using client-specified probe set(s)

 

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

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 [FISH] probes). Additional charges will be incurred for all reflex, if requested, 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 using client-specified FISH probes and is not intended as a panel test. Specific probes must be listed in the probe request field. Reflex probes can be performed when appropriate if specified in the order request field.

 

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

inv(3) or t(3;3) or GATA2::MECOM fusion, request probe GATA2/MECOM

t(1;3)(p36;q21) or GATA2::PRDM16 fusion, request probe PRDM16/GATA2

t(3q26.2;var) or 3q26.2 rearrangement, request probe MECOM break-apart

-5/5q-, request probe D5S630/EGR1

-7/7q-, request probe D7Z1/D7S486

+8, request probe D8Z2/MYC

-17/17p-, request probe TP53/D17Z1

-20/20q-, request probe D20S108/20qter

 

Appropriate ancillary probes may be performed at consultant discretion to render comprehensive assessment. Any additional probes will have the results included within the final report and will be performed at an additional charge.

Method Name

Fluorescence In Situ Hybridization (FISH)

Reporting Name

MDS, Specified FISH

Specimen Type

Varies

Specimen Minimum Volume

Bone marrow: 1 mL; Whole blood: 2 mL

Specimen Stability Information

Specimen Type Temperature Time
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. 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.

Interpretation

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

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 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

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 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;146(1):86-94. doi:10.1093/ajcp/aqw077

Day(s) Performed

Monday through Friday

Report Available

7 to 10 days

Specimen Retention Time

4 weeks

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)

LOINC Code Information

Test ID Test Order Name Order LOINC Value
MDSMF MDS, Specified FISH 62367-8

 

Result ID Test Result Name Result LOINC Value
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

Forms

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