Achondroplasia Mutation Analysis (FGFR3 Gene G1138A, G1138C) Test
Short Name: Achondroplasia Mutation Analysis
Also known as: FGFR3 Mutation Analysis, Achondroplasia Genetic Test, Dwarfism Mutation Test
Achondroplasia Mutation Analysis (FGFR3 Gene G1138A, G1138C) Test test available at DNA Labs India for ₹9,000. Uses Sanger Sequencing on Peripheral blood samples. Results in 10-12 days. Free home collection in 300+ cities across India.
🩺 Medically Reviewed By
Dr SULOCHANA HEMCHANDRA HOLLA
Consultant Medical Geneticist · Reg: 8532
Last reviewed: September 7, 2026
Overview
The purpose of the Achondroplasia Mutation Analysis test is to confirm the diagnosis of achondroplasia by identifying specific mutations in the FGFR3 gene. It helps in differentiating achondroplasia from other skeletal dysplasias, guides treatment and management strategies, and provides essential information for genetic counseling and family planning. The test is also valuable for prenatal diagnosis in high-risk pregnancies and for research purposes to understand genetic disorders.
- Test Code
- 2937
- Price
- ₹9,000
- Sample Type
- Peripheral blood
- Result Time
- 10-12 days
- Fasting Required
- No
- Method
- Sanger Sequencing
Sample Collection
No specific preparation is required. Ensure a doctor's prescription is available if needed, though it may not be required for certain cases like surgery, pregnancy, or travel abroad.
Method: Venipuncture
Laboratory Analysis
A healthcare professional will collect a peripheral blood sample via venipuncture, typically from the arm, using an EDTA vacutainer.
Report Delivery
Apply pressure to the puncture site to prevent bruising. The sample will be processed and sent to the laboratory for analysis.
Timeline: 10-12 days
Patient Instructions
About This Test
Who Should Get This Test
The purpose of the Achondroplasia Mutation Analysis test is to confirm the diagnosis of achondroplasia by identifying specific mutations in the FGFR3 gene. It helps in differentiating achondroplasia from other skeletal dysplasias, guides treatment and management strategies, and provides essential information for genetic counseling and family planning. The test is also valuable for prenatal diagnosis in high-risk pregnancies and for research purposes to understand genetic disorders.
How to Prepare
- Ensure the patient is relaxed and hydrated.
- Clean the puncture site with antiseptic.
- Use a sterile needle and EDTA vacutainer for blood collection.
- Label the sample correctly with patient details.
- Transport the sample in a cool pack to maintain stability.
Doctor's Notes
Reviewed by Dr SULOCHANA HEMCHANDRA HOLLA — MBBS, MD (Medical Genetics) · Reg. No. 8532
"This test is essential for confirming achondroplasia, aiding in early intervention, and informing family planning decisions for at-risk individuals."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Hemolyzed or lipemic samples
- Insufficient sample volume (<1 ml)
- Improperly labeled or contaminated samples
- Samples collected in incorrect containers
Understanding Your Results
Both mutations Not Detected
No achondroplasia-associated mutations found. Clinical correlation is advised if symptoms persist.
G1138A or G1138C Mutation Detected
Confirms diagnosis of achondroplasia. Genetic counseling and management planning are recommended.
Inconclusive
Further testing or repeat analysis may be needed. Consult a genetic specialist.
Consult a doctor if test results are positive for mutations, if there are clinical signs of achondroplasia, or for genetic counseling regarding family planning. Also, seek medical advice if results are inconclusive or if there are concerns about skeletal health.
Limitations
- ⚠This test only detects the G1138A and G1138C mutations; other rare FGFR3 mutations may not be identified.
- ⚠It does not assess for other genetic disorders or skeletal dysplasias.
- ⚠Results may be inconclusive in cases of mosaicism or low-level mutations.
- ⚠Genetic counseling is recommended to interpret results accurately.
Risks & Considerations
- ●Minor pain or bruising at the blood draw site
- ●Rare risk of infection or fainting
- ●No significant long-term risks associated with the test
Interfering Factors
- ●Sample contamination during collection or handling
- ●Degraded DNA due to improper storage
- ●Presence of inhibitors in the blood sample
- ●Technical errors in sequencing process
Frequently Asked Questions
What is achondroplasia?
How is the Achondroplasia Mutation Analysis test performed?
What is the cost of the test in India?
Is home sample collection available?
How long does it take to get the results?
What do the test results indicate?
Is the test accurate?
Can this test detect all cases of achondroplasia?
Is genetic counseling recommended before or after the test?
What are the risks of the test?
How should I prepare for the test?
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