Intended Use
The neurofibromin 1 gene (NF1), located at 17q11.2, is a tumor suppressor gene negatively regulating the RAS signal transduction pathway. Germline-loss of function can cause neurofibromatosis type I, a congenital genetic disorder of the nervous system which usually appears during childhood. Somatic deletions of NF1 are detected in about 3.5-7% of de novo acute myeloid leukemia (AML) cases and are often associated with a complex aberrant karyotype. Mutations in the remaining NF1 allele are reported with varying frequency. NF1 deleted cells have a decreased sensitivity to Ara-C in cell culture studies.
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
————-
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