TWNK Gene Progressive External Ophthalmoplegia With Mitochondrial Deletions Type 3 Autosomal Dominant NGS Genetic DNA Test
Introduction
The TWNK Gene Progressive External Ophthalmoplegia with mitochondrial deletions type 3 autosomal dominant NGS Genetic DNA Test is a vital diagnostic tool for identifying genetic mutations associated with neurological disorders. This test plays a significant role in understanding the genetic underpinnings of progressive external ophthalmoplegia, a condition characterized by weakness or paralysis of the eye muscles, leading to difficulty in eye movement.
What the Test Measures
This genetic test analyzes the TWNK gene to detect any mutations or deletions that may contribute to the development of mitochondrial disorders. Using Next-Generation Sequencing (NGS) technology, it provides a comprehensive overview of the genetic variations that may be present.
Who Should Consider This Test?
Individuals experiencing symptoms such as:
- Progressive weakness in eye muscles
- Difficulty in moving the eyes
- Family history of mitochondrial disorders
- Neurological symptoms without a clear diagnosis
should consider undergoing this test. Additionally, those with risk factors related to mitochondrial diseases may also benefit from testing.
Benefits of Taking the Test
- Accurate diagnosis of genetic conditions
- Informed family planning and genetic counseling
- Understanding potential health risks and management options
- Improved treatment strategies based on genetic insights
Understanding Your Results
Results from the TWNK Gene test will provide insights into the presence of any genetic mutations. It is essential to discuss these results with a healthcare professional or genetic counselor who can guide you through the implications and potential next steps.
Test Details
Test Name | Price (NGN) |
---|---|
Discount Price | 400,000 NGN |
Regular Price | 560,000 NGN |
Booking the Test
To book the TWNK Gene Progressive External Ophthalmoplegia with mitochondrial deletions type 3 autosomal dominant NGS Genetic DNA Test, please contact us at +2348110567037 or visit our website to schedule your appointment. Our team is ready to assist you with any inquiries and guide you through the testing process.
Turnaround time for results is approximately 3 to 4 weeks, and the sample type required is blood or extracted DNA, or one drop of blood on an FTA card. Prior to the test, a genetic counseling session is recommended to create a pedigree chart of affected family members.