Achondroplasia FGFR3 Full Gene Sequence Analysis
Introduction
Achondroplasia is a genetic disorder characterized by dwarfism, primarily caused by mutations in the FGFR3 gene. The Achondroplasia FGFR3 Full Gene Sequence Analysis is a comprehensive test that examines the entire FGFR3 gene to identify specific mutations. Understanding these mutations is crucial for diagnosis, management, and genetic counseling for individuals and families affected by this condition.
What the Test Measures
This test measures the entire sequence of the FGFR3 gene, detecting any mutations that may lead to the development of achondroplasia. It provides critical insights into the genetic basis of the condition, allowing for accurate diagnosis and management strategies.
Who Should Consider This Test?
This test is recommended for:
- Individuals exhibiting symptoms of dwarfism.
- Those with a family history of achondroplasia or related conditions.
- Parents planning for a child and wanting to understand genetic risks.
- Patients seeking confirmation of a diagnosis made by a healthcare professional.
Benefits of Taking the Test
Taking the Achondroplasia FGFR3 Full Gene Sequence Analysis offers numerous benefits:
- Accurate diagnosis of achondroplasia.
- Informed family planning and risk assessment.
- Guidance for managing health concerns related to the condition.
- Access to genetic counseling and support services.
Understanding Your Results
Results from the Achondroplasia FGFR3 Full Gene Sequence Analysis will indicate whether any mutations are present in the FGFR3 gene. A healthcare provider will assist in interpreting the results, discussing their implications, and recommending further actions if necessary.
Test Details and Pricing
Test Name | Discount Price | Regular Price |
---|---|---|
Achondroplasia FGFR3 Full Gene Sequence Analysis | 600,000 NGN | 800,000 NGN |
Booking the Test
To book the Achondroplasia FGFR3 Full Gene Sequence Analysis, please contact us at +2348077798758 or visit our website. Ensure you have a doctor’s prescription before proceeding with the test. Note that a prescription is not required for surgery and pregnancy cases or for individuals planning to travel abroad.
Test Parameters
- Turnaround Time: 2-3 weeks
- Sample Type: Peripheral blood / Amniotic Fluid / Chorionic villi / Cord blood
- Test Components: Sterile container / Sterile Normal Saline Container / EDTA Vacutainer (2ml)
- Method: Sanger Sequencing
- Specialty: Gynecologist