POLG2 Gene Progressive External Ophthalmoplegia With Mitochondrial Deletions Type 4 Autosomal Dominant NGS Genetic DNA Test
Introduction
The POLG2 Gene Progressive External Ophthalmoplegia with Mitochondrial Deletions Type 4 Autosomal Dominant NGS Genetic DNA Test is a crucial diagnostic tool for identifying genetic mutations associated with specific neurological disorders. This test utilizes Next-Generation Sequencing (NGS) technology to analyze the POLG2 gene, which plays a significant role in mitochondrial function. Understanding these genetic markers is vital for effective patient management and treatment planning.
What the Test Measures
This test detects mutations in the POLG2 gene that may lead to progressive external ophthalmoplegia (PEO) and other mitochondrial disorders. By identifying these genetic variations, healthcare providers can better understand the underlying causes of a patient’s symptoms and tailor appropriate interventions.
Who Should Consider This Test
Individuals experiencing symptoms such as:
- Progressive weakness of eye muscles
- Difficulty in eye movement
- Family history of mitochondrial disorders
- Neurological symptoms without a clear diagnosis
These risk factors may warrant consideration for the POLG2 Gene test, especially when guided by a neurologist or geneticist.
Benefits of Taking the Test
- Accurate Diagnosis: Helps confirm or rule out genetic conditions related to mitochondrial dysfunction.
- Informed Treatment Options: Enables healthcare providers to make informed decisions regarding patient care.
- Family Planning: Offers insights into hereditary patterns, assisting families in understanding risks for future generations.
- Personalized Medicine: Aids in tailoring treatment plans based on genetic findings.
Understanding Your Results
Results from the POLG2 Gene test will be interpreted by a qualified healthcare professional who will explain the implications of any detected mutations. It is essential to discuss these results in the context of your clinical history and symptoms.
Test Pricing
Test Name | Discount Price | Regular Price |
---|---|---|
POLG2 Gene Progressive External Ophthalmoplegia Test | 400,000 NGN | 560,000 NGN |
Booking the Test
To book the POLG2 Gene Progressive External Ophthalmoplegia with Mitochondrial Deletions Type 4 Autosomal Dominant NGS Genetic DNA Test, please contact us at +2348077798758 or visit our website. Our team is ready to assist you with any questions and 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 the patient and a genetic counseling session to draw a pedigree chart of family members affected with POLG2 Gene Progressive External Ophthalmoplegia.
Consult with a neurologist or genetic specialist to determine the appropriateness of this test for your situation.