PNPT1 Gene Combined Oxidative Phosphorylation Deficiency Type 13 NGS Genetic DNA Test
Introduction
The PNPT1 Gene Combined Oxidative Phosphorylation Deficiency Type 13 NGS Genetic DNA Test is a cutting-edge diagnostic tool that plays a vital role in identifying genetic mutations associated with metabolic disorders. This test utilizes Next-Generation Sequencing (NGS) technology to provide precise and comprehensive insights into the genetic factors influencing mitochondrial function and energy production in the body.
What the Test Measures
This genetic test specifically measures mutations in the PNPT1 gene, which are linked to oxidative phosphorylation deficiencies. These deficiencies can lead to severe metabolic disorders, impacting overall health and quality of life.
Who Should Consider This Test
This test is recommended for individuals who exhibit symptoms of metabolic disorders, such as:
- Unexplained muscle weakness
- Neurological symptoms
- Failure to thrive in children
- Family history of metabolic disorders
If you have a clinical history suggesting mitochondrial dysfunction, this test could provide crucial information for diagnosis and management.
Benefits of Taking the Test
- Accurate diagnosis of genetic conditions related to metabolic disorders.
- Informs treatment options and management strategies.
- Helps in understanding the risk of passing on genetic conditions to offspring.
- Guides genetic counseling and family planning.
Understanding Your Results
Once the test is completed, the results will be analyzed and interpreted by our team of genetic specialists. You will receive a detailed report outlining the findings, including any identified mutations and their implications for your health. It is essential to discuss these results with a healthcare provider to fully understand their significance and potential next steps.
Test Details and Pricing
| Test Name | Discount Price | Regular Price |
|---|---|---|
| PNPT1 Gene Combined Oxidative Phosphorylation Deficiency Type 13 NGS Genetic DNA Test | 400,000 NGN | 560,000 NGN |
Booking the Test
To book the PNPT1 Gene Combined Oxidative Phosphorylation Deficiency Type 13 NGS Genetic DNA Test, please contact us at +2348077798758. Our team is ready to assist you with the booking process and answer any questions you may have.
Additional Information
Turnaround Time: 3 to 4 Weeks
Sample Type: Blood or Extracted DNA or One drop Blood on FTA Card
Pre-Test Instructions: A clinical history of the patient undergoing the test, along with a genetic counseling session to draw a pedigree chart of affected family members, is required.
Specialty
This test falls under the specialty of General Physician within the Genetics department, utilizing NGS technology to address metabolic disorders.
