MYELODYSPLASTIC SYNDROME (MDS), FISH

Message
Detecting neoplastic clones associated with the common chromosome abnormalities seen in patients with myelodysplastic syndromes
(MDS) and other myeloid malignancies. Identifying known chromosome abnormalities in patients with myeloid malignancies and
tracking response to therapy.
 


Test Code
87


CPT Codes
See below for detailed CPT information.

Includes
Test Classification and CPT Coding
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)


Preferred Specimen
Bone Marrow: Green Top (sodium heparin) 1-2mL
Blood: Green Top (sodium heparin) 7-10 mL


Minimum Volume
Bone Marrow: 1-2 mL
Blood: 7-10 mL of blood


Instructions
  1. Invert several times to mix bone marrow.
  2. Other anticoagulants are not recommended and are harmful to the viability of the cells.


Methodology
Fluorescence In Situ Hybridization (FISH)

Setup Schedule
Samples are processed Monday through Saturday. Results are reported Monday through Friday.


Reference Range
An interpretive report is provided.

The abnormalities detected, cutoff values and probe set details are shown below:
Abnormality Cutoff (%) Probe Sets
5q31 Deletion/Monosomy 5 5.0 Vysis EGR1 FISH Probe Kit, Abbott
7q31 Deletion/Monosomy 7 3.0 Vysis D7S486/CEP 8 Probe Kit, Abbott
Trisomy 8 2.0 Vysis IGH/MYC/CEP 8 Probe Kit, Abbott
17p13.1 (TP53) Deletion 8.0 P53 (TP53) Deletion, Cytocell
20q Deletion 4.0 Del(20q) Deletion, Cytocell


Clinical Significance
Detecting neoplastic clones associated with the common chromosome abnormalities seen in patients with myelodysplastic syndromes (MDS) and other myeloid malignancies. Identifying known chromosome abnormalities in patients with myeloid malignancies and tracking response to therapy.

This test includes a charge for probe sets and professional interpretation of results. Additional charges will be incurred for all reflex probes  performed.
Myelodysplastic syndromes (MDS) mostly occur in older adults with 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 peripheral blood cytopenias. Patients with MDS may
progress to bone marrow failure or transform to acute myeloid leukemia. MDS can be either primary (de novo) or secondary
(assoicated with previous treatment with alkylating or etoposide chemotherapy, with or without radiation).
Cytogenetic studies can detect evidence of clonality in MDS and can be used to provide clinical prognostic or diagnostic information. Clonal
cytogenetic abnormalities are more frequently observed in 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. MLL (KMT2A) rearrangements, t(1;3), and t(3;21) are more frequently associated with secondary MDS.
Conventional chromosome analysis (karyotyping) is the gold standard for identifying common, recurrent chromosome abnormalities in MDS;
however, some subtle rearrangements associated with secondary MDS may be missed (eg, MLL abnormalities).


Performing Laboratory
West Virginia University Hospital, Inc.




The CPT Codes provided in this document are based on AMA guidelines and are for informational purposes only. CPT coding is the sole responsibility of the billing party. Please direct any questions regarding coding to the payor being billed. Any Profile/panel component may be ordered separately. Reflex tests are performed at an additional charge.