Achondroplasia FGFR3 Full Gene Sequence Analysis
Comprehensive Genetic Testing for Skeletal Dysplasia
The Achondroplasia FGFR3 Full Gene Sequence Analysis represents a cutting-edge genetic diagnostic tool designed to identify mutations in the fibroblast growth factor receptor 3 (FGFR3) gene, which plays a critical role in bone development and growth regulation. This comprehensive test provides definitive answers for individuals and families concerned about skeletal dysplasia conditions, particularly achondroplasia, the most common form of disproportionate short stature.
What This Advanced Genetic Test Detects
This sophisticated analysis examines the complete FGFR3 gene sequence using Sanger sequencing technology to identify specific genetic variations responsible for achondroplasia. The test specifically targets:
- Complete FGFR3 gene sequencing for comprehensive mutation detection
- Identification of common G1138A and G1138C mutations in exon 10
- Detection of rare FGFR3 gene variants associated with skeletal dysplasia
- Analysis of genetic markers affecting bone growth and development
Who Should Consider This Genetic Analysis
This test is particularly recommended for individuals presenting with:
- Disproportionate short stature with shortened limbs
- Characteristic facial features including prominent forehead and flattened nasal bridge
- Family history of achondroplasia or other skeletal dysplasias
- Prenatal ultrasound findings suggesting skeletal abnormalities
- Children with delayed motor development and characteristic skeletal features
- Couples with family history planning pregnancy
Significant Benefits of Genetic Testing
Undergoing the Achondroplasia FGFR3 Full Gene Sequence Analysis provides numerous advantages:
- Definitive Diagnosis: Provides conclusive genetic confirmation of achondroplasia
- Family Planning Guidance: Enables informed reproductive decisions for affected families
- Early Intervention: Facilitates timely medical management and specialized care
- Genetic Counseling: Supports comprehensive family genetic risk assessment
- Treatment Planning: Guides appropriate medical and surgical interventions
- Peace of Mind: Reduces uncertainty and provides clear diagnostic answers
Understanding Your Test Results
Our genetic specialists provide comprehensive result interpretation:
- Positive Result: Indicates presence of FGFR3 gene mutation confirming achondroplasia diagnosis
- Negative Result: No detected FGFR3 mutations associated with achondroplasia
- Variant of Unknown Significance: Rare genetic findings requiring additional clinical correlation
- Carrier Status: Identification of individuals carrying achondroplasia mutations
All results include detailed genetic counseling to ensure complete understanding and appropriate next steps.
Test Pricing and Details
| Test Component | Price (USD) |
|---|---|
| Discount Price | $750 |
| Regular Price | $1,000 |
| Turnaround Time | 2-3 weeks |
| Sample Type | Peripheral blood/Amniotic Fluid/Chorionic villi/Cord blood |
Nationwide Testing Availability
We proudly serve patients across the United States with convenient testing locations in all major metropolitan areas including New York, Los Angeles, Chicago, Houston, Phoenix, Philadelphia, San Antonio, San Diego, Dallas, San Jose, and many more. Our network of certified genetic testing facilities ensures accessible, reliable service nationwide.
Take the Next Step Toward Genetic Clarity
Don’t let uncertainty about skeletal dysplasia conditions affect your family’s future. Our expert genetic testing team is ready to provide the answers you need with compassion and clinical excellence. Schedule your Achondroplasia FGFR3 Full Gene Sequence Analysis today and take control of your genetic health journey.
Call or WhatsApp us now at +1(267) 388-9828 to book your comprehensive genetic analysis and receive professional genetic counseling from our specialized team.
