FISH, KMT2A (Lysine Methyltransferase 2A) Gene Rearrangement

36055

1230800033 | LAB1958: FISH, MLL(11q23) Gene Rearrangement | QUEST EAP: 36055

If results are not possible, the test order may be canceled and replaced with a Cytogenetics Communication.

3 mL bone marrow or 5 mL whole blood collected in a sodium heparin (green-top) tube

1 mL bone marrow • 3 mL whole blood

Bone marrow or whole blood collected in: sodium heparin (royal blue-top) tube, or sodium heparin lead-free (tan-top) tube

Other vacutainer tubes containing sodium heparin are acceptable.

Specimen viability decreases during transit. Send specimen to testing lab for viability determination. Do not freeze. Do not reject.

Room temperature

Specimen viability decreases during transit. Send specimen to testing lab for viability determination. Do not freeze. Do not reject.

Monday-Sunday Morning Report available: 5 Days

See Laboratory Report

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.