ABHD5 Gene Chanarin-Dorfman Syndrome NGS Genetic DNA Test
Introduction to the Test
The ABHD5 Gene Chanarin-Dorfman Syndrome NGS Genetic DNA Test is a crucial diagnostic tool designed to identify mutations in the ABHD5 gene associated with Chanarin-Dorfman syndrome, a rare metabolic disorder. This test utilizes Next-Generation Sequencing (NGS) technology to provide comprehensive insights into the genetic makeup of individuals suspected of having this condition, enabling timely interventions and management strategies.
What the Test Measures
This genetic test specifically measures the presence of mutations in the ABHD5 gene, which plays a significant role in lipid metabolism. By analyzing the genetic sequence, healthcare providers can determine if an individual is at risk of developing Chanarin-Dorfman syndrome.
Who Should Consider This Test?
Individuals who exhibit symptoms such as:
- Hypotonia (decreased muscle tone)
- Developmental delays
- Fatty liver disease
- Other metabolic abnormalities
are encouraged to consider this test. Additionally, those with a family history of Chanarin-Dorfman syndrome or metabolic disorders should consult with their healthcare provider about the potential benefits of genetic testing.
Benefits of Taking the Test
- Early diagnosis of Chanarin-Dorfman syndrome.
- Informed decision-making regarding patient management and treatment options.
- Genetic counseling for affected families.
- Peace of mind through understanding genetic risks.
Understanding Your Results
Once the test is completed, results will be interpreted by a qualified genetic counselor or physician. They will provide guidance on the implications of the test results, including potential risks and management strategies. It is essential to discuss results in the context of clinical history and family background.
Test Pricing
| Price Type | Amount (NGN) |
|---|---|
| Discount Price | 400,000 NGN |
| Regular Price | 560,000 NGN |
How to Book the Test
To schedule your ABHD5 Gene Chanarin-Dorfman Syndrome NGS Genetic DNA Test, please contact us at +2348077798758. Our team is ready to assist you in booking your appointment and providing any additional information you may need.
Additional Information
Turnaround Time: 3 to 4 Weeks
Sample Type: Blood
Pre-Test Instructions: A clinical history of the patient going for the test and a genetic counseling session to draw a pedigree chart of family members affected with Chanarin-Dorfman syndrome is required.
Take the first step towards understanding your genetic health today!
