EXOSC3 Gene Pontocerebellar Hypoplasia Type 1B NGS Genetic DNA Test
Introduction
The EXOSC3 Gene Pontocerebellar Hypoplasia Type 1B NGS Genetic DNA Test is an advanced diagnostic tool designed to analyze genetic mutations associated with Pontocerebellar hypoplasia (PCH) type 1B. This condition is characterized by underdevelopment of the pons and cerebellum, leading to severe neurological deficits. Identifying mutations in the EXOSC3 gene can provide critical insights into the underlying genetic causes of this disorder, enabling better management and support for affected individuals and their families.
What the Test Measures
This genetic test utilizes Next Generation Sequencing (NGS) technology to detect mutations in the EXOSC3 gene. By analyzing the DNA, the test can identify specific genetic alterations that contribute to the development of Pontocerebellar hypoplasia type 1B, helping clinicians make informed decisions regarding diagnosis and treatment.
Who Should Consider This Test
Individuals who exhibit symptoms such as developmental delays, motor skill impairment, or other neurological concerns may benefit from this test. Additionally, families with a history of neurological disorders or known EXOSC3 mutations should consider genetic testing to assess risk and receive appropriate counseling.
Benefits of Taking the Test
- Provides clarity on genetic causes of neurological symptoms.
- Facilitates informed decision-making regarding treatment options.
- Offers families insights into hereditary risk factors.
- Enables tailored support and management strategies for affected individuals.
Understanding Your Results
Results from the EXOSC3 Gene Pontocerebellar Hypoplasia Type 1B NGS Genetic DNA Test will be interpreted by a qualified genetic counselor or neurologist. They will help you understand the implications of any detected mutations and guide you through the next steps, including potential management plans and family planning considerations.
Test Pricing
| Test Name | Discount Price | Regular Price |
|---|---|---|
| EXOSC3 Gene Pontocerebellar Hypoplasia Type 1B NGS Genetic DNA Test | 400,000 NGN | 560,000 NGN |
Booking the Test
To book the EXOSC3 Gene Pontocerebellar Hypoplasia Type 1B NGS Genetic DNA Test, please contact us at +2348077798758. Our team is ready to assist you with scheduling and any questions you may have regarding the test process.
Turnaround time for results is approximately 3 to 4 weeks. Samples can be collected from blood or extracted DNA, or even one drop of blood on an FTA card. Prior to testing, a genetic counseling session is recommended to draw a pedigree chart of family members affected by EXOSC3 Gene Pontocerebellar Hypoplasia Type 1B.
Understanding your genetic health is crucial. Take the first step towards clarity and confidence in your health decisions by booking your test today!
