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Genetic test for FGFR3 gene mutations (serum/plasma)

Published: August 9, 2026Updated: August 16, 2026

This test checks for changes (mutations) in the FGFR3 gene, which may be linked to certain cancers or inherited conditions.

Quick summary

["Helps identify genetic variations that could influence cancer risk or treatment options."]

Medically reviewed by WellAlly Editorial TeamLast reviewed August 16, 2026Editorial policy

Key facts at a glance

LOINC
75392-1
Short code
FXN gene GAA Rpt Amn/CVS Ql
Synonyms
FXN gene GAA Rpt Amn/CVS Ql
Category
chemistry
Sample
fluid
Container
Sterile tube
Units
N/A
Ref low
0.8
Ref high
1.2
Critical range
— – 5 N/A
Fasting
false
Population
adult
Sex
all
Age range
18–65 years
Method
molgen
CPT
85610
SNOMED
396252006
Specimen volume
2-5 mL
Stability
Room temperature: 2h, Refrigerated: 24h
Hemolysis max
300
TAT
4–24 hours
Order
routine

What Is This Test For?

The FGFR3 gene provides instructions for making a protein that plays a role in cell growth and development. Mutations in this gene can sometimes lead to overactive cell growth, which may contribute to certain types of cancer, such as certain types of bone or soft tissue sarcomas. This test is often used in research or specialized clinical settings to assess genetic risk or guide treatment decisions for specific conditions.

How Is the Sample Collected?

A blood sample (serum or plasma) is typically collected from a vein in your arm. This is a standard procedure where a healthcare provider will clean the area, insert a small needle, and draw blood into a tube. You may feel a slight pinch, but it usually doesn’t cause significant discomfort.

What Does the Test Result Mean?

Results can vary widely depending on the specific mutation detected and clinical context. Some mutations may increase cancer risk, while others may be associated with inherited conditions like certain bone disorders. Your healthcare provider will discuss the results in detail based on your medical history and symptoms.

When Might I Need This Test?

This test may be recommended if you have a family history of certain cancers, symptoms suggestive of a genetic condition, or if you are part of a clinical study investigating genetic mutations related to FGFR3.

Reference range

INR: 0.8-1.2 (warfarin: 2.0-3.0)N/A

Specimen: fluid

Inform your healthcare provider if you are taking blood thinners. No special preparation required.

Clinical interpretation

How abnormal results are interpreted and what conditions they suggest.

Clinical Significance: Genetic testing for FGFR3 mutations can play a role in cancer diagnosis, risk assessment, and personalized treatment planning. Mutations may influence how certain cancers respond to targeted therapies, so results can help guide treatment options tailored to your genetic profile.

Short name

FGFR3 Mutation Analysis

Frequently asked questions

Why was this test ordered?
Your healthcare provider may have recommended this test based on your medical history, family history of certain cancers, or participation in a research study focused on genetic mutations.
What does a positive result mean?
A positive result indicates the presence of a specific mutation in the FGFR3 gene. This may suggest an increased risk for certain cancers or inherited conditions, but results must be interpreted in the context of your overall health and medical history by a healthcare provider.
Do I need to prepare for this test?
No special preparation is usually needed. However, follow any specific instructions provided by your healthcare provider, such as avoiding certain medications or fasting, if applicable.
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This information is for educational purposes only and is not a substitute for professional medical advice, diagnosis, or treatment.

Medical Disclaimer

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