CEP290 Gene Bardet-Biedl Syndrome Type 14 NGS Genetic DNA Test
Introduction to the Test
The CEP290 Gene Bardet-Biedl Syndrome Type 14 NGS Genetic DNA Test is a sophisticated diagnostic tool designed to identify mutations in the CEP290 gene, which are associated with Bardet-Biedl Syndrome (BBS). This syndrome is a rare genetic disorder that can lead to a range of health issues, including obesity, kidney abnormalities, and retinopathy. Understanding your genetic predisposition through this test is vital for early intervention and management of associated health risks.
What the Test Measures
This test utilizes Next Generation Sequencing (NGS) technology to detect specific mutations in the CEP290 gene. By analyzing the DNA from a blood sample or extracted DNA, the test can reveal the presence of genetic variants that may contribute to the development of Bardet-Biedl Syndrome.
Who Should Consider This Test?
Individuals who exhibit symptoms such as obesity, renal dysfunction, or vision problems should consider undergoing this genetic test. Additionally, those with a family history of Bardet-Biedl Syndrome or related symptoms may benefit from testing to understand their genetic risk factors.
Benefits of Taking the Test
- Early diagnosis of Bardet-Biedl Syndrome allows for timely management of associated health issues.
- Informs family planning decisions for individuals with a known family history.
- Provides insights into potential health risks, enabling proactive health management.
- Guides healthcare providers in tailoring treatment plans based on genetic information.
Understanding Your Results
Results from the CEP290 Gene Bardet-Biedl Syndrome Type 14 NGS Genetic DNA Test will indicate whether or not mutations are present in the CEP290 gene. A positive result may suggest a higher risk for developing symptoms associated with Bardet-Biedl Syndrome, while a negative result may alleviate concerns about genetic predisposition. It is essential to discuss results with a healthcare provider for proper interpretation and guidance.
Test Details and Pricing
| Test Name | Discount Price | Regular Price |
|---|---|---|
| CEP290 Gene Bardet-Biedl Syndrome Type 14 NGS Genetic DNA Test | 400,000 NGN | 560,000 NGN |
Booking the Test
To book the CEP290 Gene Bardet-Biedl Syndrome Type 14 NGS Genetic DNA Test, please contact us at +2348077798758. Our team is ready to assist you with any inquiries and to schedule your appointment.
Pre-Test Instructions
Prior to the test, a clinical history of the patient is required, along with a genetic counseling session to draw a pedigree chart of family members affected by Bardet-Biedl Syndrome. This preparation is crucial for accurate interpretation of the test results.
Sample Type and Turnaround Time
The test can be performed using a blood sample, extracted DNA, or even one drop of blood on an FTA card. Results are typically available within 3 to 4 weeks.
