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Test ID MDSF Myelodysplastic Syndrome (MDS), FISH, Varies

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

Chromosome analysis is recommended as first-tier testing for myelodysplastic syndrome; FISH analysis should only be ordered if chromosome analysis is not successful. 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.

 

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.

 

Indicate if the entire panel is to be performed or if only an individual probe set (ie, -7/7q-) is desired. If the patient is being tracked for known clonal abnormalities, indicate which probes should be analyzed.

 

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(KMT2A)

17p-, TP53/D17Z1

20q-, D20S108/20qter

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

-When an MLL (KMT2A) 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).

Method Name

Fluorescence In Situ Hybridization (FISH)

Reporting Name

MDS, FISH

Specimen Type

Varies


Advisory Information


If this test is ordered in conjunction with AMLF / Acute Myeloid Leukemia (AML), FISH, it will be canceled as a duplicate test request because these same probes are performed as part of the AMLF panel.

 

Chromosome analysis is recommended as first-tier testing; see CHRBM / Chromosome Analysis, Hematologic Disorders, Bone Marrow, or CHRHB / Chromosomes, 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. This assay can be helpful if a complete chromosome study is not achieved (<20 metaphases), 1 abnormal metaphase (nonclonal) with a classic abnormality is observed, or an unresolved structural abnormality is observed.



Shipping Instructions


Advise Express Mail or equivalent if not on courier service.



Necessary Information


1. Provide a reason for referral with each specimen and bone marrow pathology report (if available). The laboratory will not reject testing if this information is not provided, but appropriate testing and interpretation may be compromised or delayed.

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



Specimen Required


Submit only 1 of the following specimens:

 

Preferred 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.

 

Acceptable 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 Minimum Volume

Blood: 2 mL
Bone Marrow: 1 mL

Specimen Stability Information

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

Reference Values

An interpretive report will be provided.

Day(s) and Time(s) Performed

Samples processed Monday through Sunday. Results reported Monday through Friday, 8 a.m. to 5 p.m.

Performing Laboratory

Mayo Clinic 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

88271 x 2, 88291-DNA probe, each (first probe set), Interpretation and report

88271 x 2-DNA probe, each; each additional probe set (if appropriate)

88271-DNA probe, each; coverage for sets containing 3 probes (if appropriate)

88271 x 2-DNA probe, each; coverage for sets containing 4 probes (if appropriate)

88271 x 3-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)

LOINC Code Information

Test ID Test Order Name Order LOINC Value
MDSF MDS, FISH In Process

 

Result ID Test Result Name Result LOINC Value
51912 Result Summary 50397-9
51914 Interpretation 69965-2
51913 Result Table 36908-2
54548 Result 62356-1
CG688 Reason for Referral 42349-1
CG689 Specimen 31208-2
51915 Source 31208-2
51916 Method 49549-9
55115 Additional Information 48767-8
53865 Disclaimer 62364-5
51917 Released By 18771-6

NY State Approved

Yes

Forms

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