Achondroplasia Mutation Analysis FGFR3 Gene G1138A G1138C
Introduction
The Achondroplasia Mutation Analysis FGFR3 Gene G1138A G1138C is a specialized genetic test that plays a vital role in understanding achondroplasia, a common form of skeletal dysplasia. This analysis identifies specific mutations in the FGFR3 gene that are associated with this condition, providing essential information for diagnosis and management.
What the Test Measures
This test detects mutations in the FGFR3 gene, specifically the G1138A and G1138C variants. These mutations are known to affect bone growth and development, leading to the characteristic features of achondroplasia.
Who Should Consider This Test
This test is recommended for:
- Individuals exhibiting symptoms of achondroplasia, such as disproportionate short stature.
- Those with a family history of the condition.
- Parents planning for children, particularly if there is a known risk of genetic disorders.
- Individuals seeking clarity on their genetic health prior to surgery or travel.
Benefits of Taking the Test
The Achondroplasia Mutation Analysis offers several benefits:
- Provides a definitive diagnosis of achondroplasia.
- Helps guide treatment options and management strategies.
- Informs family planning decisions for prospective parents.
- Enhances understanding of potential health implications associated with the condition.
Understanding Your Results
Results from the Achondroplasia Mutation Analysis will indicate the presence or absence of the G1138A and G1138C mutations. A positive result confirms the diagnosis of achondroplasia, while a negative result may suggest further investigation if symptoms persist. It is essential to discuss results with a healthcare provider for comprehensive understanding and guidance.
Test Details and Pricing
| Test Name | Discount Price | Regular Price |
|---|---|---|
| Achondroplasia Mutation Analysis FGFR3 Gene G1138A G1138C | 18,000 KSh | 24,000 KSh |
Sample Type and Turnaround Time
The sample type required for this test is peripheral blood, collected in an EDTA Vacutainer (2ml). The expected turnaround time for results is 10-12 days.
Pre-Test Instructions
The Achondroplasia Mutation Analysis (FGFR3 gene G1138A, G1138C) requires a Doctor’s prescription. Please note that a prescription is not applicable for individuals undergoing surgery, those who are pregnant, or people planning to travel abroad.
Branches and Booking
DNA Labs Kenya has branches across all major cities in Kenya, making it convenient for you to access our services. We also offer a home sample collection service for your convenience. To book your test, please call or WhatsApp us at +254711564616.
Don’t wait any longer; take charge of your health today with the Achondroplasia Mutation Analysis FGFR3 Gene G1138A G1138C!
