PEX7 Gene Refsum Disease NGS Genetic DNA Test
Introduction
The PEX7 Gene Refsum Disease NGS Genetic DNA Test is a cutting-edge diagnostic tool designed to identify mutations in the PEX7 gene, which are responsible for Refsum disease, a rare metabolic disorder. This test utilizes Next Generation Sequencing (NGS) technology to provide accurate and comprehensive results, making it an essential component in the management of patients with suspected Refsum disease.
What the Test Measures
This genetic test measures specific alterations in the PEX7 gene. By analyzing the DNA, we can detect mutations that may lead to Refsum disease, allowing for a better understanding of the patient’s genetic predisposition to this condition.
Who Should Consider This Test
Individuals who exhibit symptoms such as vision problems, hearing loss, or neurological issues should consider the PEX7 Gene Refsum Disease NGS Genetic DNA Test. Additionally, those with a family history of Refsum disease or related metabolic disorders may benefit from this test to assess their risk.
Benefits of Taking the Test
- Early diagnosis of Refsum disease, enabling timely intervention.
- Informed decision-making regarding treatment options.
- Understanding genetic risks for family planning.
- Access to genetic counseling for affected family members.
Understanding Your Results
Results from the PEX7 Gene Refsum Disease NGS Genetic DNA Test will be provided in a comprehensive report. It is essential to discuss these results with a healthcare provider, who can explain the implications and recommend further action based on the findings.
Test Pricing
| Price Type | Amount (NGN) |
|---|---|
| Discount Price | 400,000 NGN |
| Regular Price | 560,000 NGN |
Book Your Test Today!
To schedule your PEX7 Gene Refsum Disease NGS Genetic DNA Test, please contact us at +2348077798758. Our team is ready to assist you with any questions and to guide you through the booking process.
Additional Information
- Turnaround Time: 3 to 4 Weeks
- Sample Type: Blood or Extracted DNA or One drop Blood on FTA Card
- Pre-test Instructions: Clinical History of Patient who is going for PEX7 Gene Refsum disease NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with Refsum disease
- Specialty: General Physician
- Department: Genetics
- Method: NGS Technology
- Disease Type: Metabolic Disorders
