ETV6 (TEL)/RUNX1 (AML1) t(12;21) by FISH

Test name:
t(12;21) by FISH (also known as ETV6/RUNX1 or TEL/AML1)

Order name:
t(12;21) by FISH request

Specimen requirements:
Sodium heparin peripheral blood or bone marrow

Minimum volume:
1 mL

Storage and stability information:
Room temperature 3 days

Test performed:
Twice per week

Methodology:
Fluorescence in situ hybridization

Reference range:
See lab report

Clinical significance:
TEL/AML1 (also known as ETV6/RUNX1) translocation is the most frequent genetic abnormality in childhood B-acute lymphoblastic leukemia (ALL) found in 20-30% of cases and is known to have a good prognosis. The t(12;21) translocation involves the ETV6 gene on 12p13 and the RUNX1 gene on 21q22. The t(12;21) translocation is a subtle abnormality not easily detected by conventional cytogenetic analysis.  FISH analysis can detect this translocation in both interphase and metaphase cells.

CPT codes:
88368 x 2