Hematologic Diseases

Cytogenetic abnormalities commonly associated with myelodysplastic syndrome (MDS) are detected by fluorescence in situ hybridization (FISH). Probes for MECOM (3q26.2), 5q (5q-/-5/+5), 7q (7q-/-7), Cen 8 (+8), KMT2A (MLL)(11q23.3), ETV6 (12p13.2), TP53 (17p13.1), Cen 19 (+19), 20q (20q-) are included in the MDS Extended FISH Profile (Extended).

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

clinical use
The MDS Extended FISH Profile (Extended) detects the most common cytogenetic abnormalities in myelodysplastic syndrome (MDS) that are of prognostic significance according to the Revised International Prognostic Scoring System (IPSS-R) [1].
1. Greenberg PL, et al. Revised international prognostic scoring system for myelodysplastic syndromes. Blood 2012;120:2454-2465.

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, KMT2A (MLL), MECOM, ETV6, TP53, and Cen 19 unless directed otherwise by the client.

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

cpt code(s)
88368 (x1)
88369 (x3)
88377 (x5)

medicare moldx cpt code
Not applicable

regulatory classification
Laboratory developed test (LDT)

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