Achondroplasia Mutation Analysis FGFR3 Gene G1138A G1138C
Introduction to the Test
The Achondroplasia Mutation Analysis FGFR3 Gene G1138A G1138C is a specialized genetic test designed to detect mutations in the FGFR3 gene that are associated with achondroplasia, a common form of dwarfism. This test is essential for individuals who may be at risk of inheriting or passing on this genetic condition. Understanding your genetic makeup can empower you to make informed health decisions.
What the Test Measures
This test specifically measures the presence of two mutations in the FGFR3 gene: G1138A and G1138C. These mutations are known to cause abnormalities in bone growth and development, leading to the characteristic features of achondroplasia.
Who Should Consider This Test?
Individuals who should consider the Achondroplasia Mutation Analysis include:
- Those with a family history of achondroplasia.
- Parents of children with symptoms indicative of achondroplasia.
- Individuals experiencing unexplained short stature or other related symptoms.
Benefits of Taking the Test
Taking the Achondroplasia Mutation Analysis provides several benefits:
- Identifies genetic predispositions to achondroplasia.
- Informs reproductive decisions for at-risk couples.
- Guides healthcare providers in managing and monitoring the condition.
- Offers peace of mind through understanding genetic risks.
Understanding Your Results
Results from the Achondroplasia Mutation Analysis will indicate whether the mutations G1138A or G1138C are present. A positive result confirms the presence of the mutation, while a negative result indicates its absence. It is important to discuss your results with a healthcare provider for appropriate interpretation and guidance.
Test Details and Pricing
Test Name | Regular Price | Discount Price |
---|---|---|
Achondroplasia Mutation Analysis FGFR3 Gene G1138A G1138C | 240000 NGN | 180000 NGN |
Booking Information
To book the Achondroplasia Mutation Analysis FGFR3 Gene G1138A G1138C test, a Doctor’s prescription is required. Please note that this prescription is not applicable for surgery, pregnancy cases, or individuals planning to travel abroad. The test requires a sample of peripheral blood, collected in an EDTA Vacutainer (2ml).
For further inquiries or to schedule your test, please call or WhatsApp us at +2348077798758. The turnaround time for results is typically 10-12 days.