Probes
(15q24.1/17q12-q21.2 & 11q23.3 & 8q21.3-q22.1/21q22.11-q22.12 & 16q22.1)

Disease:
AML

The PML-RARA fusion is the result of a recurrent, balanced translocation between chromosomes 15 and 17. It provides specific diagnosis, prognostic information, and prediction of relapse when monitoring residual disease of acute promyelocytic leukemia (APL). KMT2A gene encodes a transcriptional coactivator that plays an essential role in regulating gene expression during early development and hematopoiesis. Multiple chromosomal translocations involving this gene are the cause of certain acute lymphoid leukemias and acute myeloid leukemias. RUNX1 is a transcription factor that forms a complex with the cofactor CBFB. This complex provides stability to the RUNX1 protein which is involved in the generation of hematopoietic stem cells and for their differentiation into myeloid and lymphoid lines. Important in classifying hematopoietic malignancies. CBFB belongs to the PEBP2/CBF transcription factor family which master-regulates a host of genes specific to hematopoiesis (e.g., RUNX1) and osteogenesis (e.g., RUNX2). In some cases, a pericentric inversion of chromosome 16 [inv(16)(p13q22)] produces a chimeric transcript consisting of the N terminus of CBFB in a fusion with the C-terminal portion of the smooth muscle myosin heavy chain 11. This chromosomal rearrangement is associated with acute myeloid leukemia of the M4Eo subtype. This AML subtype is associated with a favorable prognosis

Collection:
1~2ml in Green top (Sodium Heparin) tube OR Lavender top (EDTA) tube.

Stability:
120 Hours

Unacceptable Conditions:
DO NOT FREEZE