TEL(ETV6)/AML1(RUNX1) t(12;21)*


Test Name

TEL(ETV6)/AML1(RUNX1) t(12;21)*

Test Code

F TEL AML1

Synonyms

t(12;21)(p13;q22), ETV6/RUNX1

Associations

Pediatric acute lymphoblastic leukemia, Acute lymphoblastic leukemia (ALL)

CPT Codes

88374

Turnaround Time

5

Specimen Requirements

5mL peripheral blood in sodium heparin 3mL bone marrow in sodium heparin Fixed cytogenetically prepared cells in sterile centrifuge tube with pellet visible in 3:1, Methanol:Acetic Acid

Specimen Stability

Blood and bone marrow = 4°C to 25°C, specimens are stable up to 72 hours Fixed cell pellets are stable for years when stored at -28°C to -15°C

Storage & Handling

4°C to 25°C during transit, but specimens may be transported on refrigerated gel packs. Do not allow the gel pack to come in contact with the specimen. Do not freeze. Extreme temperatures should be avoided.

Causes for Rejections

Clotted specimen; Specimen exposed to extreme temperature; Anticoagulant toxic to cells; Insufficient number of cells

Description

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. The t(12;21) involves the TEL gene on 12p13 and the AML1 gene on 21q22. Cytogenetically,

References

  1. Dong Soon Lee et al. (2005). Cancer Genetics and Cytogenetics. 162:176–178.
  2. Alvarez Y et al. (2004). Cancer Genetics and Cytogenetics. 152:77–80.

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