ETV6/RUNX1
Methodology
FISH
Test Description and clinical significance
Probes
12p13.2/21q22.12
Disease:
Myeloid Malignancy (e.g., AML) and Lymphoid Malignancy (e.g., ALL).
ETV6/RUNX1 is the most common fusion gene in childhood ALL. ETV: This gene encodes an ETS family transcription factor. The product of this gene contains two functional domains: a N-terminal pointed (PNT) domain that is involved in protein-protein interactions with itself and other proteins, and a C-terminal DNA-binding domain.RUNX1: Core binding factor (CBF) is a heterodimeric transcription factor that binds to the core element of many enhancers and promoters. The protein encoded by this gene represents the alpha subunit of CBF and is thought to be involved in the development of normal hematopoiesis
BCR/ABL p190 Minor by PCR is recommended
Specimen Requirements
Collection:
1~2ml in Green top (Sodium Heparin) tube OR Lavender top (EDTA) tube. 10 mL of fluid in RPMI medium, or
1 cm3 marble-sized piece of fresh tumor immersed completely with RPMI medium or sterile saline.
Stability:
120 Hours/48 hours
Unacceptable Conditions:
DO NOT FREEZE
Storage & Transport
Room Temperature/Refrigerated (2–8°C )
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.
