TREX1 Gene Aicardi-Goutieres Syndrome Type 1 NGS Genetic DNA Test
Introduction
The TREX1 Gene Aicardi-Goutieres Syndrome Type 1 NGS Genetic DNA Test is a specialized genetic test that plays a crucial role in diagnosing Aicardi-Goutieres syndrome, a rare neurological disorder. This test utilizes Next Generation Sequencing (NGS) technology to identify mutations in the TREX1 gene, which are responsible for this condition. Understanding these genetic factors is essential for patients and their families as it provides clarity on the diagnosis and potential treatment options.
What the Test Measures
This test specifically detects mutations in the TREX1 gene that are associated with Aicardi-Goutieres syndrome. By analyzing the genetic material, healthcare providers can determine if a patient has inherited the disorder or if it has arisen spontaneously.
Who Should Consider This Test
Patients who exhibit symptoms such as developmental delays, neurological issues, or specific physical manifestations of Aicardi-Goutieres syndrome should consider this test. Additionally, individuals with a family history of neurological disorders or those affected by similar symptoms may also benefit from genetic testing.
Benefits of Taking the Test
- Provides definitive diagnosis of Aicardi-Goutieres syndrome.
- Helps in understanding the genetic basis of the disorder.
- Guides treatment options and management strategies.
- Offers valuable information for family planning and genetic counseling.
Understanding Your Results
Once the test is completed, results will be interpreted by a qualified healthcare professional. It is essential to understand that the presence of a mutation may indicate a diagnosis of Aicardi-Goutieres syndrome, while the absence of a mutation does not completely rule out the disorder. Regular follow-ups and consultations are recommended for comprehensive care.
Test Pricing
Test Name | Price (NGN) |
---|---|
TREX1 Gene Aicardi-Goutieres Syndrome Type 1 NGS Genetic DNA Test | Discount Price: 400,000 NGN |
Regular Price: 560,000 NGN |
How to Book the Test
To book the TREX1 Gene Aicardi-Goutieres Syndrome Type 1 NGS Genetic DNA Test, please contact us via phone or WhatsApp at +2348110567037. Our team is ready to assist you with the booking process and answer any questions you may have.
Additional Information
Turnaround time for results is approximately 3 to 4 weeks. Samples can be collected through blood or extracted DNA, or even a single drop of blood on an FTA card. Prior to the test, a genetic counseling session is recommended to draw a pedigree chart of affected family members.