Hematologic Diseases

Cytogenetic abnormalities commonly associated with myelodysplastic syndrome (MDS) are detected by fluorescence in situ hybridization (FISH). Probes for 5q (5q-/-5/+5), 7q (7q-/-7), Cen 8 (+8), KMT2A (MLL)(11q23.3), 20q (20q-) are included in the MDS Standard FISH Profile.

disease state indication(s)
Myelodysplastic syndrome (MDS), acute myeloid leukemia with myelodysplasia-related changes (AML with MRC)

clinical use
The MDS Standard FISH Profile detects the most common cytogenetic abnormalities in myelodysplastic syndrome (MDS) that are of prognostic significance according to the International Prognostic Scoring System (IPSS) [1].
1. Greenberge P, et al. International scoring system for evaluating prognosis in myelodysplastic syndromes. Blood 1997;89:2079-2088.

methodology/product platform
Fluorescence in situ hybridization (FISH)

specimen type and requirements
Peripheral blood: 5-6 mL in sodium heparin (green-top) tube. Bone marrow: 2-3 mL in sodium heparin (green-top) tube.
Bodily fluids: Bodily fluids for diagnostic testing of hematological cancers (subject to specimen viability). Preferred transport in equal parts RPMI.
Lymphoid tissue: Transport in RPMI.
Note: Use refrigerated cold pack for transport. Make sure cold pack is not in direct contact with specimen.

Probe Prioritization: If samples are insufficient to complete the whole FISH panel, Genoptix will prioritize testing in the following order: 5q, 7q, Cen 8, 20q, and KMT2A (MLL), unless directed otherwise by the client.

turnaround time
Tech-only (TC): 3 days
Global (TC & PC): 5 days

cpt code(s)
88368 (x1)
88369 (x1)
88377 (x3)

medicare moldx cpt code
Not applicable

regulatory classification
Laboratory developed test (LDT)

ordering option
Global (TC & PC) or Tech-only (TC)