Test Directory

ETV6, 12p13

Deregulation of the ETV6 gene through translocation, deletion or somatic mutation is recurrent in myeloid malignancies. By metaphase cytogenetics (MC), approximately 1% of patients with AML and 0.6% of patients with myelodysplastic syndrome (MDS) have deletion of part of 12p13.2. Mapping studies place ETV6 within the smallest commonly deleted region.

Specimen Types: Leukemic Blood or Bone Marrow

Preferred Collection Container: Green Top (Sodium Heparin)

Alternate Collection Container: Lavendar Top (EDTA)

Desired Specimen Volume: 3 - 5 mL

Minimum Acceptable Volume: 1 mL

• Lithium heparin is not acceptable.
• Specimens must be collected in a sterile collection container. Do not open tube.

Each specimen must be accompanied by a requisition form, script, electronic order or physician note. Each order must indicate the reason for testing (diagnosis).

• Transport to the laboratory at room temperature.
• Store specimen as whole blood, in original tube, at room temperature and deliver to lab within 24 hours.
• If specimen cannot be delivered within 24 hours, store in refrigerator. Do not freeze specimen.
• Specimens collected on the weekends must be refrigerated upon arrival at HNL Lab Medicine.

• Specimen frozen
• Specimen arriving without any form of patient identification (unlabeled)
• Specimen with attached needles
• Specimen arriving with broken or leaking collection tube
• Unfixed specimen treated with fixative

In a normal cell, the expected signal pattern is two fusion signals. In an abnormal cell containing a rearrangement, the expected signal pattern is one red signal, one green signal, and one fusion signal.

• FISH ETV6 Breakapart
• ETV6 BA
• ETV6
• TEL