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FISH, KMT2A, Gene Rearrangement, Technical Component
Test Code37886
CPT Codes
88275, 88271 (x2)
Preferred Specimen
3 - 5 mL bone marrow or whole blood collected in a sodium heparin (green-top) tube
Minimum Volume
1 mL
Other Acceptable Specimens
Sodium heparin (royal blue-top) • Sodium heparin lead-free (tan-top)
Instructions
Specimen viability decreases during transit. Send specimen to testing lab for viability.
Transport Temperature
Room temperature
Specimen Stability
Room temperature: See Instructions
Refrigerated: See Instructions
Frozen: Unacceptable
Refrigerated: See Instructions
Frozen: Unacceptable
Reject Criteria (Eg, hemolysis? Lipemia? Thaw/Other?)
Received frozen
Methodology
Fluorescence In Situ Hybridization
Setup Schedule
Set up: Daily; Report available: 5-7 days
Clinical Significance
The KMT2A (lysine methyltransferase 2A) gene, previously known as the MLL gene, on chromosome 11q23.3 encodes for a histone methyltransferase, which functions as an epigenetic regulator of transcription. KMT2A FISH (fluorescence in situ hybridization) testing is used to detect rearrangements in the KMT2A gene in patients with acute myeloid leukemia (AML) or acute lymphoblastic leukemia (ALL), and in a small subset of patients with myelodysplastic neoplasms (MDS). KMT2A rearrangements in acute leukemia are associated with a poor outcome. However, recent studies have shown that the prognosis is dependent on the fusion partner and cell lineage origin. In addition, both adults and pediatric patients with KMT2A gene rearrangements can now benefit from a recent FDA-approved menin inhibitor therapy, particularly in cases with relapsed and refractory acute leukemia. KMT2A FISH testing is used in conjunction with other clinical and histopathological tests. It is not intended to be used as a stand-alone diagnostic.
