FISH, ETV6/RUNX1 (TEL/AML1), Translocation (12;21)
Also known as: TEL/AML1, T(12;21), Gene Fusion, FISH, ETV6/RUNX1 T(12;21)
Use
Used to detect the cryptic t(12;21)(p13;q22) translocation that results in the ETV6–RUNX1 fusion gene, commonly seen in B‑cell acute lymphoblastic leukemia (B‑ALL), providing diagnostic and prognostic information.
Special Instructions
If aspiration syringe requires internal pre‑coating to prevent clotting, use a diluted sodium heparin (green‑top) tube. Do not send syringes. Avoid lithium heparin. Preferred specimen is bone marrow aspirate; whole blood also acceptable.
Limitations
Interphase FISH may not detect low‑level mosaicism or variant rearrangements; conventional cytogenetics may be recommended concurrently. Specimens that are frozen, older than stability limits, or collected in inappropriate anticoagulant may compromise results.
Methodology
Chromosomal / Cytogenetics (FISH)
Biomarkers
Result Turnaround Time
3-5 days
Related Documents
For more information, please review the documents below
Specimen
Bone Marrow
Volume
Not provided
Minimum Volume
Not provided
Container
green‑top sodium heparin tube
Collection Instructions
2‑3 mL aspirated in sodium heparin (green‑top) tube; do not send syringes; avoid lithium heparin
Storage Instructions
Refrigerate; do not freeze
Causes for Rejection
Frozen specimens or those in unacceptable anticoagulants (e.g., lithium heparin) may be rejected