Gene sequencing analysis of CSF3RG exon 14/17 mutations in cerebrospinal fluid
This test checks for specific genetic mutations in the CSF3RG gene, focusing on exons 14 and 17, using cerebrospinal fluid (CSF). These mutations may be linked to certain inherited blood disorders or neurological conditions.
["Helps identify genetic changes that could influence blood cell production or neurological health."]
Key facts at a glance
- LOINC
- 92674-1
- Short code
- CSF3R gene exon 14+17 Mut Anl Bld/T
- Synonyms
- CSF3R gene exon 14+17 Mut Anl Bld/T
- Category
- chemistry
- Sample
- csf
- Container
- Sterile tube
- Units
- N/A
- Fasting
- false
- Population
- adult
- Sex
- all
- Age range
- 18–65 years
- Method
- molgen
- Specimen volume
- 1-2 mL
- Stability
- Immediate analysis required, Refrigerated: 1h
- Hemolysis max
- 200
- TAT
- 4–24 hours
- Order
- routine
Why This Test Might Be Ordered
Your doctor may recommend this test if you have symptoms or a family history suggestive of conditions like myelodysplastic syndromes (MDS), certain blood cancers, or inherited disorders affecting blood cells. It’s also used in research or genetic counseling contexts.
What to Expect Before the Test
A lumbar puncture (spinal tap) is typically needed to collect cerebrospinal fluid. You may feel mild pressure or discomfort, but it’s usually brief. Follow your doctor’s instructions about fasting or avoiding certain medications.
What the Test Results Mean
Results identify whether the CSF3RG gene mutations in exons 14/17 are present. These mutations can vary in significance depending on their location and impact on gene function. Your doctor will interpret results in the context of your symptoms, medical history, and family history.
Common Conditions Linked to These Mutations
Mutations in CSF3RG are associated with conditions affecting blood cell development, such as certain types of anemia or leukemia. They may also play a role in inherited disorders like myeloproliferative neoplasms (MPNs).
Clinical interpretation
How abnormal results are interpreted and what conditions they suggest.
This test provides critical information for diagnosing inherited blood disorders, guiding treatment plans, and assessing risk for family members. Early detection can influence management strategies, including monitoring, lifestyle adjustments, or preventive measures.
Short name
CSF3RG Gene Mutation Test (Exons 14/17)
Frequently asked questions
What does a positive result mean for my health?
Will I need additional tests if this result is positive?
Can lifestyle changes help if I have these mutations?
Sources
- 1
- 2Lab Tests OnlineSource
- 3
Click any link to access the full source. PubMed Central (PMC) links provide free full-text access.
This information is for educational purposes only and is not a substitute for professional medical advice, diagnosis, or treatment.
This content is for general informational and educational purposes only and is not a substitute for professional medical advice, diagnosis, or treatment. Always seek the guidance of a qualified healthcare provider with any questions you have about a medical condition, and never disregard professional medical advice or delay seeking it because of something you read here.
If you think you may have a medical emergency, call your local emergency number or go to the nearest emergency department immediately.
Medically reviewed by WellAlly Editorial Team Last reviewed August 16, 2026. · Read our editorial policy