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CSF3R Mutation Analysis Test

Last updated July 26, 2019

Approved by: Maulik P. Purohit MD, MPH

The CSF3R Mutation Analysis Test is a genetic test that detects abnormalities in the CSF3R gene. It aids in the diagnosis of agammaglobulinemia and leukemia.

What are other Names for this Test? (Equivalent Terms)

  • CD114 Mutation Analysis Test
  • Colony Stimulating Factor 3 Receptor Mutation Analysis Test
  • Granulocyte Colony-Stimulating Factor Receptor Gene Mutation Analysis Test

What is CSF3R Mutation Analysis Test? (Background Information)

  • CSF3R mutation refers to an alteration in the CSF3R gene, which is associated with immune deficiency and cancer of the white blood cells (leukocytes)
  • The CSF3R gene gives instructions for the G-CSFR protein (also called CD114). G-CSFR (granulocyte colony-stimulating factor receptor) is a protein that sits on the outer membrane of cells
  • As its name implies, G-CSFR recognizes and binds to a protein called granulocyte colony-stimulating factor (G-CSF). Once bound to G-CSF outside the cell, the G-CSFR protein initiates a chain of events inside the cell that stimulates cell growth and division
  • Thus, G-CSFR is like an antenna situated on the membrane of cells. Once it receives its signal (G-CSF), it relays messages for growth and division to the cellular machinery inside. Inside, the signal is propagated through various signaling pathways - namely, JAK, Lyn, STAT, and Erk1/2
  • G-CSFR is especially relevant to granulocytes; white blood cells that are poised to release pathogen-killing or inflammation-stimulating chemicals
  • Alterations in the CSF3R gene result in defective G-CSFR proteins. This leads to agammaglobulinemia (a type of immune deficiency), because the affected granulocytes are unable to grow and divide, leading to decreased white blood cell numbers
  • Additionally, because of its important and complex role in regulating white blood cell growth and division, a defective CSF3R protein may lead to uncontrolled growth of white blood cells, resulting in leukemia
  • The CSF3R Mutation Analysis Test is a genetic test that detects abnormalities in the CSF3R gene. It aids in the diagnosis of agammaglobulinemia and leukemia. It also aids in the treatment of leukemia by guiding selection of therapeutic drugs, including disqualifying certain drugs from being used

The molecular testing, in general, can be performed using a variety of methods. Some of these methods include:

  • In situ hybridization techniques, such as fluorescence in situ hybridization (FISH)
  • Immunohistochemistry (IHC)
  • Next-generation sequencing (NGS)
  • Polymerase chain reaction (PCR)
  • Comparative genomic hybridization (CGH)
  • Karyotyping including spectral karyotyping
  • mRNA analysis
  • Tissue microarrays (TMAs)
  • Southern blot test
  • Northern blot test
  • Western blot test
  • Eastern blot test

The methodology used for the test may vary from one laboratory to another.

Note: Molecular testing has limitations due to the molecular method and genetic mutational abnormalities being tested. This can affect the results on a case-by-case basis. Consultation with your healthcare provider will help in determining the right test and right molecular method, based on individual circumstances.

What are the Clinical Indications for performing the CSF3R Mutation Analysis Test?

Following are the clinical indicators for performing the CSF3R Mutation Analysis Test:

  • Swollen, but painless, lymph nodes
  • Abdominal swelling
  • Fever, night sweats
  • Rapid, unexplained weight loss
  • Bronchitis
  • Chronic diarrhea
  • Conjunctivitis (eye infection)
  • Otitis media (middle ear infection)
  • Pneumonia
  • Sinusitis
  • Skin infections
  • Upper respiratory tract infections.

In general, the molecular genetic testing is undertaken in the following situations:

  • To assist (and in some cases, confirm) the initial diagnosis
  • If there is a family history of the medical disorder/condition
  • To distinguish other conditions that have similar features (signs and symptoms)
  • To help in determining treatment options
  • To confirm recurrence of the tumor: Tumor recurrence can either be at the original tumor site, or at a distant location (away from the initial site)

How is the Specimen Collected for the CSF3R Mutation Analysis Test?

Following is the specimen collection process for CSF3R Mutation Analysis Test:

The specimen sample requirements may vary from lab to lab. Hence, it is important to contact the testing lab for exact specimen requirements, before initiating the testing process.

  • Sample on which the test is performed may include:
    • Peripheral blood in individuals showing signs and symptoms suspected of TTT
    • In case of expectant mothers, prenatal testing through amniotic fluid and chorionic villi sampling
    • Fresh tumor tissue during biopsy: In some cases, the testing can be performed on tumor tissue also
    • Formalin-fixed paraffin-embedded solid tumor tissue (FFPE tumor tissue), often referred to as paraffin block of the tumor
    • Unstained tissue slides
  • Process of obtaining the sample: As outlined by the laboratory testing facility
  • Preparation required: As outlined by the laboratory testing facility


  • In some cases, a different source of specimen (such as peripheral blood, bone marrow biopsy specimen, or other body fluids) may be acceptable to the laboratory performing the test
  • Occasionally, additional samples may be required to either repeat the test or to perform follow-up testing
  • Depending on the location of testing, it may take up to 2 weeks’ turnaround time, to obtain the test results
  • Many hospitals preserve the paraffin blocks for at least 7 years. In general, older paraffin blocks (over 5 years) may affect the detection of specific mutations, due to degradation of the tumor specimen over time

Cost of CSF3R Mutation Analysis Test:

  • The cost of the test procedure depends on a variety of factors, such as the type of your health insurance, annual deductibles, co-pay requirements, out-of-network and in-network of your healthcare providers and healthcare facilities
  • In many cases, an estimate may be provided before the test is conducted. The final amount may depend upon the findings during the test procedure and post-operative care that is necessary (if any)

What is the Significance of the CSF3R Mutation Analysis Test Result?

A mutation in the CSF3R gene indicates a positive result for the CSF3R Mutation Analysis Test. This may point to a diagnosis of any of the following:

  • Agammaglobulinemia
  • Hereditary neutrophilia
  • Severe congenital neutropenia
  • Leukemia

The laboratory test results are NOT to be interpreted as results of a "stand-alone" test. The test results have to be interpreted after correlating with suitable clinical findings and additional supplemental tests/information. Your healthcare providers will explain the meaning of your tests results, based on the overall clinical scenario.

Additional and Relevant Useful Information:

  • CSF3R mutation most notably occurs in a location of the chromosome called 1p34.3 i.e., the short arm (p) of chromosome 1 in position 34.3
  • Many laboratories may not have the capability to perform this test. Only highly-specialized labs with advanced facilities and testing procedures may perform this test

Certain medications that you may be currently taking may influence the outcome of the test. Hence, it is important to inform your healthcare provider of the complete list of medications (including any herbal supplements) you are currently taking. This will help the healthcare provider interpret your test results more accurately and avoid unnecessary chances of a misdiagnosis.

The following DoveMed website link is a useful resource for additional information:


Please visit our Laboratory Procedures Center for more physician-approved health information:


References and Information Sources used for the Article:

Helpful Peer-Reviewed Medical Articles:

Reviewed and Approved by a member of the DoveMed Editorial Board
First uploaded: Feb. 1, 2017
Last updated: July 26, 2019