MRPS16 Gene Combined Oxidative Phosphorylation Deficiency Type 2 NGS Genetic DNA Test
Introduction
The MRPS16 Gene Combined Oxidative Phosphorylation Deficiency Type 2 NGS Genetic DNA Test is a cutting-edge diagnostic tool designed to identify genetic mutations associated with metabolic disorders, particularly those affecting mitochondrial function. This test utilizes Next-Generation Sequencing (NGS) technology to provide precise genetic insights, essential for effective diagnosis and management of conditions related to oxidative phosphorylation deficiencies.
What the Test Measures
This genetic test specifically measures mutations in the MRPS16 gene, which plays a critical role in mitochondrial protein synthesis. By analyzing the genetic material, the test can detect abnormalities that may lead to metabolic disorders, helping healthcare providers to understand the underlying causes of energy metabolism issues.
Who Should Consider This Test
Individuals who should consider the MRPS16 Gene Combined Oxidative Phosphorylation Deficiency Type 2 NGS Genetic DNA Test include:
- Patients exhibiting symptoms of metabolic dysfunction, such as unexplained fatigue, muscle weakness, or neurological issues.
- Individuals with a family history of mitochondrial disorders or metabolic syndromes.
- Patients undergoing genetic counseling for hereditary conditions.
Benefits of Taking the Test
The benefits of the MRPS16 Gene test include:
- Accurate identification of genetic mutations, allowing for targeted treatment plans.
- Enhanced understanding of metabolic disorders and their implications for health.
- Informed family planning and risk assessment through genetic counseling.
Understanding Your Results
Upon completion of the test, results will be analyzed and interpreted by qualified genetic specialists. Patients will receive a comprehensive report detailing any detected mutations, their significance, and recommendations for further management. It is essential to discuss results with your healthcare provider to understand their implications fully.
Test Pricing
Test Name | Discount Price (KSh) | Regular Price (KSh) |
---|---|---|
MRPS16 Gene Combined Oxidative Phosphorylation Deficiency Type 2 NGS Genetic DNA Test | 40,000 | 56,000 |
Additional Information
Turnaround time for test results is approximately 3 to 4 weeks. The sample type required can be blood, extracted DNA, or one drop of blood on an FTA card. Prior to testing, patients should provide a clinical history and may need to undergo a genetic counseling session to create a pedigree chart of affected family members.
Branches and Booking
We have branches across major cities in Kenya, ensuring accessibility for all patients. To book the MRPS16 Gene Combined Oxidative Phosphorylation Deficiency Type 2 NGS Genetic DNA Test, please call or WhatsApp us at +254711564616.