EARS2 Gene Combined Oxidative Phosphorylation Deficiency Type 12 NGS Genetic DNA Test
Introduction
The EARS2 Gene Combined Oxidative Phosphorylation Deficiency Type 12 NGS Genetic DNA Test is a cutting-edge diagnostic tool that aids in the identification of metabolic disorders linked to mitochondrial dysfunction. This test utilizes Next-Generation Sequencing (NGS) technology to provide a comprehensive analysis of the EARS2 gene, which plays a critical role in the oxidative phosphorylation pathway.
What the Test Measures
This genetic test detects mutations in the EARS2 gene that may lead to Combined Oxidative Phosphorylation Deficiency Type 12, a condition that can result in severe metabolic imbalances and a range of neurological symptoms. By analyzing the genetic material, healthcare providers can better understand the underlying causes of a patient’s symptoms.
Who Should Consider This Test
Individuals who exhibit symptoms such as unexplained neurological issues, muscle weakness, or metabolic disturbances, as well as those with a family history of metabolic disorders, should consider this test. Risk factors include:
- Family history of mitochondrial diseases
- Presence of metabolic symptoms
- Unexplained developmental delays in children
Benefits of Taking the Test
Taking the EARS2 Gene Combined Oxidative Phosphorylation Deficiency Type 12 NGS Genetic DNA Test offers several benefits:
- Accurate diagnosis of potential genetic disorders
- Informed decision-making regarding treatment options
- Guidance for family planning and genetic counseling
- Access to targeted therapies and interventions
Understanding Your Results
Results from the EARS2 Gene test will be provided in a detailed report. A genetic counselor or healthcare provider will help interpret the findings, explaining any mutations detected and their implications for health. Understanding your genetic results is crucial for managing your health effectively.
Test Information
| Test Name | EARS2 Gene Combined Oxidative Phosphorylation Deficiency Type 12 NGS Genetic DNA Test |
|---|---|
| Discount Price | 400,000 NGN |
| Regular Price | 560,000 NGN |
Booking the Test
To book the EARS2 Gene Combined Oxidative Phosphorylation Deficiency Type 12 NGS Genetic DNA Test, please contact us at +2348077798758. Our team is ready to assist you with scheduling and any inquiries you may have.
Additional Information
Turnaround time for the 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, a clinical history and genetic counseling session are recommended to draw a pedigree chart of family members affected with Combined Oxidative Phosphorylation Deficiency Type 12.
For further information, do not hesitate to reach out. Your health is our priority!
