Intended Use
The ETV6 gene, located on 12p13.2, is involved in numerous translocations found in myeloid and lymphoid malignancies. Two mechanisms are common: fusion to a tyrosine kinase resulting in a constitutively active tyrosine kinase and fusions to transcription factors driving aberrant expression of target genes. Besides hematological malignancies, ETV6 is also involved in the development of the pediatric congenital mesoblastic nephroma and fibrosarcoma. t(12;15)(p13;q25) fuses ETV6 to the tyrosine receptor kinase NTRK3 resulting in the ETV6 NTRK3 fusion gene, a constitutively active tyrosine kinase.
Patient Preparation
- Sample collection: Non-diluted bone marrow aspirate. Collect in a sodium heparinized Vacutainer.
- Specimen preparation: Do not freeze or expose to extreme temperatures.
- Bone Marrow: Transfer 3 mL bone marrow to a Green (Sodium Heparin). (Min: 1 mL)
- Whole Blood: Transport 5 mL whole blood. (Min: 2 mL)
- Storage/Transport Temperature: Room temperature.
- Unacceptable Conditions: Frozen specimens. Clotted specimens.
- Remarks:
- Stability: Ambient: 48 hours; Refrigerated: 48 hours; Frozen: Unacceptable
Methodology
Fluorescence in situ Hybridization (FISH)
Sample received to report Turnaround time (TAT)
3 working days
Reference Interval
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Interpretive Data
The most recent WHO classification of Tumours of Hematopoietic and Lymphoid Tissues (Revised 5th edition) is used for interpretation criteria for evaluation.
Resources
- Additional Technical Information
- Test Request Form
Sample Reports
- Enhanced Report
- See report