POLG Gene Alpers Syndrome NGS Genetic DNA Test
Introduction to the POLG Gene Alpers Syndrome NGS Genetic DNA Test
The POLG Gene Alpers Syndrome NGS Genetic DNA Test is a specialized genetic test designed to detect mutations in the POLG gene, which is associated with Alpers syndrome, a severe neurological disorder. This test utilizes Next Generation Sequencing (NGS) technology to provide comprehensive insights into the genetic factors that may contribute to this condition. Early diagnosis through genetic testing plays a crucial role in managing symptoms and improving patient outcomes.
What the Test Measures
This test specifically measures mutations in the POLG gene, which can lead to mitochondrial dysfunction, resulting in neurological symptoms. By identifying these mutations, healthcare providers can better understand the underlying causes of symptoms and tailor appropriate treatment plans.
Who Should Consider This Test?
Individuals who should consider the POLG Gene Alpers Syndrome NGS Genetic DNA Test include:
- Those with a family history of Alpers syndrome or related neurological disorders.
- Patients exhibiting symptoms such as developmental delays, seizures, and liver dysfunction.
- Individuals with risk factors related to mitochondrial diseases.
Benefits of Taking the Test
Taking the POLG Gene Alpers Syndrome NGS Genetic DNA Test offers several benefits:
- Early and accurate diagnosis of potential genetic disorders.
- Informed decision-making regarding treatment and management options.
- Access to genetic counseling for affected family members.
- Potential for personalized treatment plans based on genetic findings.
Understanding Your Results
Results from the POLG Gene Alpers Syndrome NGS Genetic DNA Test will be interpreted by qualified healthcare professionals. Generally, positive results indicate the presence of mutations in the POLG gene, which may necessitate further clinical evaluation and management. Negative results may provide reassurance but do not completely rule out the possibility of other genetic conditions.
Test Pricing
Test Name | Discount Price | Regular Price |
---|---|---|
POLG Gene Alpers Syndrome NGS Genetic DNA Test | 40,000 KSh | 56,000 KSh |
Convenient Locations and Booking
We have branches across all major cities in Kenya, making it easy for you to access our services. Additionally, we offer home sample collection services for your convenience. To book the POLG Gene Alpers Syndrome NGS Genetic DNA Test, please call or WhatsApp us at +254711564616. Our team is ready to assist you with any inquiries and to schedule your appointment.
Turnaround Time
The turnaround time for the POLG Gene Alpers Syndrome NGS Genetic DNA Test is approximately 3 to 4 weeks.
Sample Type
The sample required for this test is a Blood EDTA Tube.
Pre-Test Instructions
Before taking the test, it is important to provide a clinical history of the patient. A genetic counseling session to draw a pedigree chart of family members affected with POLG Gene Alpers Syndrome is recommended.