FGFR3 Gene Mutation Analysis, Amniotic Fluid, Qualitative
This test looks for specific changes in the FGFR3 gene in a sample of amniotic fluid. It is used to help identify certain genetic conditions that can affect bone growth and development in a baby.
["The test detects FGFR3 gene mutations in amniotic fluid to support prenatal genetic evaluation."]
Key facts at a glance
- LOINC
- 75391-3
- Short code
- FGFR3 gene Mut Anl Amn/CVS
- Synonyms
- FGFR3 gene Mut Anl Amn/CVS
- Category
- chemistry
- Sample
- fluid
- Container
- Sterile tube
- Units
- N/A
- Fasting
- false
- Population
- adult
- Sex
- all
- Age range
- 18–65 years
- Method
- molgen
- Specimen volume
- 2-5 mL
- Stability
- Room temperature: 2h, Refrigerated: 24h
- Hemolysis max
- 300
- TAT
- 4–24 hours
- Order
- routine
What Is Being Tested?
The FGFR3 gene provides instructions for making a protein that helps regulate bone growth. Certain mutations in this gene can cause conditions such as achondroplasia and thanatophoric dysplasia. This test examines DNA from amniotic fluid to see whether a specific FGFR3 mutation is present.
Why Might This Test Be Ordered?
A healthcare provider may order this test during pregnancy when ultrasound findings or family history suggest a condition related to FGFR3. It can help clarify a diagnosis and support informed pregnancy planning and counseling.
How the Sample Is Collected
The sample is amniotic fluid, usually collected through amniocentesis, a procedure in which a small amount of fluid surrounding the baby is withdrawn with a thin needle. The fluid contains fetal cells that provide DNA for analysis.
What the Results Mean
A result may be reported as positive (mutation detected), negative (mutation not detected), or inconclusive. A positive result indicates that the specific FGFR3 mutation tested was found. A negative result does not rule out all possible genetic conditions. Results should always be interpreted by a healthcare provider along with ultrasound findings and genetic counseling.
Clinical interpretation
How abnormal results are interpreted and what conditions they suggest.
FGFR3 mutation analysis in amniotic fluid is used in prenatal diagnosis of skeletal dysplasias such as achondroplasia and thanatophoric dysplasia. Detecting a known mutation can confirm a suspected diagnosis and guide counseling, but results must be interpreted in the context of clinical findings and genetic counseling; not all FGFR3-related conditions are detected by a single targeted test.
Short name
FGFR3 Mutation (Amniotic Fluid)
Frequently asked questions
Does a positive result mean my baby definitely has a genetic condition?
Is amniocentesis safe?
Can a negative result rule out all genetic conditions?
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