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CSF3R Mutation Analysis
- Molecular
Clinical Significance
The Colony Stimulating Factor 3 Receptor (CSF3R) gene is mutated in 59% of chronic neutrophilic leukemia (CNL) or atypical chronic myeloid leukemia (aCML). CSF3R mutation has been reported in 30-80% of leukemia arising in patients with severe congenital neutropenia. It has also been reported in 4% of colon cancer and 3% of small cell/squamous cell lung cancer. The presence of CSF3R mutation is important for diagnosis, classification, and prognosis of chronic myeloproliferative neoplasms.
Specimen Requirements
Bone Marrow Aspirate: 2 mL in EDTA tube.
Peripheral Blood: 5 mL in EDTA tube.
Note: Test is DNA-based. Please select Extract & Hold - DNA If specimen hold service is desired.
Storage and Transportation
Use cold pack for transport, making sure cold pack is not in direct contact with specimen. For fresh samples: refrigerate before shipping and ship same day as drawn whenever possible. Do not freeze. Please select extract & hold - DNA if specimen hold service is desired.
CPT Code(s)*
81479
*The CPT codes provided with our test descriptions are based on AMA guidelines and are for informational purposes only. Correct CPT coding is the sole responsibility of the billing party. Please direct any questions regarding coding to the payor being billed.
Last Updated: August 27, 2025