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CSF3R Mutation Analysis
Test Code92477
CPT Codes
81479
Preferred Specimen
4 mL whole blood or 3 mL bone marrow aspirate collected in an EDTA (lavender-top) tube
Minimum Volume
3 mL whole blood • 1 mL bone marrow aspirate
Other Acceptable Specimens
Whole blood or bone marrow aspirate collected in: Sodium heparin (green-top) tube • Fixed cell pellet collected in: Plastic leak-proof container • Extracted DNA from CLIA-certified laboratory collected in: Sterile leak-proof container
Instructions
Cell pellets: Send fixed samples within 7 days of fixation date in a plastic, leak-proof tube/container. Indicate type of fixative used along with patient name, specimen source, date collected, and date harvested/fixed. Cell pellets submitted in Carnoy's or other alcohol-based fixatives are acceptable. Do not reject specimens, send to laboratory for screening.
Transport Temperature
Room temperature
Specimen Stability
Room temperature: 7 days
Refrigerated: 7 days
Frozen: Unacceptable
Extracted DNA
Room temperature:7 days
Refrigerated: 14 days
Frozen: 1 year
Refrigerated: 7 days
Frozen: Unacceptable
Extracted DNA
Room temperature:7 days
Refrigerated: 14 days
Frozen: 1 year
Methodology
Polymerase Chain Reaction-based DNA Sequencing
FDA Status
This test was developed and its analytical performance characteristics have been determined by Quest Diagnostics. It has not been cleared or approved by FDA. This assay has been validated pursuant to the CLIA regulations and is used for clinical purposes.
Setup Schedule
Sets up 7 days a week.
Clinical Significance
This DNA-based assay tests leukocytes from blood or bone marrow aspirate for mutations in exons 14 and 17 of colony stimulating factor 3 receptor (CSF3R), using an advanced DNA sequencing method. Mutations in these two regions of CSF3R are associated with myeloid neoplasms, particularly atypical chronic myeloid leukemia and chronic neutrophilic leukemia.
