Achondroplasia (FGFR3 Full Gene Sequencing)
Overview of Achondroplasia (FGFR3 Full Gene Sequencing) in Kalyani
The Achondroplasia (FGFR3 Full Gene Sequencing) test is a comprehensive genetic test that analyzes the FGFR3 (Fibroblast Growth Factor Receptor 3) gene to identify disease-causing variants associated with achondroplasia, the most common form of inherited short-limbed dwarfism. The test examines the entire coding region of the FGFR3 gene, helping confirm a genetic diagnosis in individuals with clinical features suggestive of the condition. It also supports genetic counselling, family planning, and informed clinical management when a hereditary skeletal disorder is suspected.
Who should get this test done?
This test may be recommended for individuals who:
● Show clinical features suggestive of achondroplasia or another FGFR3-related skeletal disorder.
● Have a family history of achondroplasia or a known FGFR3 gene mutation.
● Require genetic confirmation of a suspected skeletal dysplasia.
● Have prenatal or postnatal findings that warrant further genetic evaluation.
● Need genetic testing as part of family screening or genetic counselling.
Why consider this test?
Achondroplasia is caused by specific changes in the FGFR3 gene, but its clinical features may sometimes overlap with other skeletal conditions. The FGFR3 Full Gene Sequencing test helps identify the underlying genetic variant, providing a definitive diagnosis when clinical findings alone are not sufficient. Confirming the genetic cause supports appropriate medical care, enables accurate genetic counselling, and helps families better understand inheritance patterns and future reproductive risks.
More information
This test uses DNA sequencing technology to analyze the complete coding region and relevant exon-intron boundaries of the FGFR3 gene. While it is primarily used to investigate achondroplasia, it may also detect variants associated with other FGFR3-related skeletal dysplasias, depending on the identified mutation. The results are interpreted in conjunction with the individual’s clinical features, family history, imaging findings, and other diagnostic investigations. In some cases, additional genetic tests may be recommended for a more comprehensive evaluation.
Other names
● FGFR3 Full Gene Sequencing
● FGFR3 Gene Analysis
● FGFR3 Mutation Analysis
● Achondroplasia Genetic Test
● FGFR3 Sequencing Test
Test included
- Achondroplasia (fgfr3 Full Gene Sequencing)
Doctor information
Test code
G512
CPT and Loinc codes
Department
- Advanced Molecular Diagnostics R&d
Turn around time
21 Working Days
Test run frequency
Every Day TIME - 10:00
Performing locations
1 labs across India
Specimen vol. and vacutainer information
| Specimen | Vacutainer | Volume |
|---|---|---|
| Amniotic Fluid | Plain Sterile Vaccutainer | 3 ML |
| Peripheral Blood | Others | 3 ML |
Specimen stability information
Amniotic Fluid, Peripheral Blood
Package price
₹20000
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