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Test ID: CSF3R CSF3R Exon 14 and 17 Mutation Detection by Sanger Sequencing, Varies

Useful For

Evaluation and classification of chronic neutrophilia


Aids in the diagnosis of chronic neutrophilic leukemia (CNL)


Identification of mutations that may suggest the class of kinase inhibitor to which the neoplasm may be sensitive

Method Name

Mutation Detection in DNA Using Sanger Sequencing

Reporting Name

CSF3R Exon 14/17 Mutation Detection

Specimen Type


Shipping Instructions

Specimen must arrive within 10 days (240 hours) of collection.

Necessary Information

The following information is required:

1. Pertinent clinical history

2. Clinical or morphologic suspicion

3. Date and time of collection

4. Specimen source

Specimen Required

Submit only 1 of the following specimens:


Specimen Type: Blood

Container/Tube: EDTA (lavender top) or ACD (yellow top)

Specimen Volume: 3 mL

Collection Instructions:

1. Invert several times to mix blood.

2. Send specimen in original tube.

3. Label specimen as blood.

Specimen Stability Information: Ambient (preferred)/Refrigerate


Specimen Type: Bone marrow aspirate

Container/Tube: EDTA (lavender top) or ACD (yellow top)

Specimen Volume: 2 mL

Collection Instructions:

1. Invert several times to mix bone marrow.

2. Send specimen in original tube.

3. Label specimen as bone marrow.

Specimen Stability Information: Ambient (preferred)/Refrigerate


Specimen Type: Extracted DNA from blood or bone marrow

Container/Tube: 1.5- to 2-mL tube

Specimen Volume: Entire specimen

Collection Instructions: Label specimen as extracted DNA from blood or bone marrow and provide indication of volume and concentration of the DNA.

Specimen Stability Information: Frozen (preferred)/Refrigerate/Ambient


Specimen Type: Paraffin-embedded tissue

Container/Tube: Paraffin block

Specimen Stability Information: Ambient 


Specimen Type: Paraffin-embedded bone marrow aspirate clot

Container/Tube: Paraffin block

Specimen Stability: Ambient


Specimen Type: Tissue

Slides: Unstained slides

Specimen Volume: 10 Slides

Specimen Stability Information: Ambient

Specimen Minimum Volume

Blood, bone marrow: 1 mL
Extracted DNA from blood or bone marrow: 50 microliters (mcL) at 20 ng/mcL

Specimen Stability Information

Specimen Type Temperature Time Special Container
Varies Varies 10 days

Clinical Information

CSF3R encodes the receptor for colony-stimulating factor 3, a cytokine that controls the production, differentiation, and function of granulocytes. Somatic CSF3R mutations were recently described in 50% to 80% of chronic neutrophilic leukemia (CNL) patients. Their association with atypical chronic myelogenous leukemia (aCML) remains controversial. They have also been reported as somatic events in severe congenital neutropenia (SCN) patients.


There are 2 types of CSF3R mutations: extracellular domain/membrane proximal point mutations (most commonly p.T618I) and cytoplasmic tail truncation mutations. They demonstrated sensitivity to JAK kinase inhibitors and Src kinase inhibitors, respectively, in in vitro assays. In CNL, the most common mutation is p.T618I, although cytoplasmic truncation mutation can also occur. Somatic cytoplasmic truncation mutations have been reported in approximately 30% of SCN patients and 80% of SCN patients with leukemic transformation, who are often on granulocyte-colony stimulating factor (GCSF) therapy. However, their role in leukemic transformation is uncertain.

Reference Values

An interpretive report will be provided


The results will be given as positive or negative for CSF3R mutation and, if positive, the mutation will be described.

Clinical Reference

1. Maxson JE, Gotlib J, Pollyea DA, et al: Oncogenic CSF3R mutations in chronic neutrophilic leukemia and atypical CML. N Engl J Med 2013;368:1781-1790

2. Pardanani A, Lasho TL, Laborde RR, et al: CSF3R T618I is a highly prevalent and specific mutation in chronic neutrophilic leukemia. Leukemia 2013;27:1870-1873

3. Tefferi A, Thiele J, Vannucchi AM, et al: An overview on CALR and CSF3R mutations and a proposal for revision of WHO diagnostic criteria for myeloproliferative neoplasms. Leukemia 2014;1:1-7

4. Vandenberghe P, Beel K: Severe congenital neutropenia, a genetically heterogeneous disease group with an increased risk of AML/MDS. Pediatr Rep 2011;3(s2):e9

Day(s) and Time(s) Performed

Monday through Friday

Analytic Time

5 days

Test Classification

This test was developed and its performance characteristics determined by Mayo Clinic in a manner consistent with CLIA requirements. This test has not been cleared or approved by the U.S. Food and Drug Administration.

CPT Code Information

81479 – Unlisted molecular pathology procedure

LOINC Code Information

Test ID Test Order Name Order LOINC Value
CSF3R CSF3R Exon 14/17 Mutation Detection 92674-1


Result ID Test Result Name Result LOINC Value
39427 CSF3R Sequencing Result No LOINC Needed
MP028 Specimen Type 31208-2
37924 Final Diagnosis 50398-7


1. Hematopathology Patient Information (T676) in Special Instructions

2. If not ordering electronically, complete, print, and send a Hematopathology/Cytogenetics Test Request (T726) with the specimen.

Mayo Clinic Laboratories | Hematology Catalog Additional Information:

mml-myeloproliferative-disorders, mml-acute-leukemia