CBFB
Alternative name:
CBFB inv(16)
Methodology
FISH
Test Description and clinical significance
Probes
16q22.1
Disease:
Diseases associated with CBFB include Acute Myelomonocytic Leukemia, Acute Myeloid Leukemia
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.
NGS-AML panel is recommended
Specimen Requirements
Collection:
1~2ml in Green top (Sodium Heparin) tube OR Lavender top (EDTA) tube.
Stability:
120 Hours
Unacceptable Conditions:
DO NOT FREEZE
Storage & Transport
Room Temperature
CPT(s)
88377
New York Approved
YES
TAT
2 Days
*The CPT codes provided are for informational purposes only and are based on AMA guidelines The billing party is solely responsible for correct CPT coding.
