TSEN2 Gene Pontocerebellar Hypoplasia Type 2B NGS Genetic DNA Test
Introduction
The TSEN2 Gene Pontocerebellar Hypoplasia Type 2B NGS Genetic DNA Test is a cutting-edge diagnostic tool designed to identify mutations in the TSEN2 gene, which is associated with Pontocerebellar Hypoplasia Type 2B (PCH2B). This condition is a rare neurological disorder that leads to underdevelopment of the cerebellum and pons, resulting in significant developmental challenges. Understanding the genetic basis of this condition is crucial for effective management and treatment.
What the Test Measures
This test utilizes Next-Generation Sequencing (NGS) technology to analyze the TSEN2 gene for specific mutations. By identifying these genetic changes, healthcare providers can better understand the underlying causes of neurological symptoms and tailor treatment plans accordingly.
Who Should Consider This Test
Individuals with a family history of neurological disorders, particularly those presenting symptoms such as motor delays, cognitive impairment, or coordination difficulties, should consider this test. Additionally, those with a clinical diagnosis of Pontocerebellar Hypoplasia Type 2B may benefit from genetic testing to confirm the diagnosis and assess potential risks for family members.
Benefits of Taking the Test
- Accurate diagnosis of genetic conditions.
- Informed decision-making regarding treatment options.
- Understanding risks for other family members.
- Access to genetic counseling for better management of the condition.
Understanding Your Results
Results from the TSEN2 Gene Pontocerebellar Hypoplasia Type 2B NGS Genetic DNA Test will be provided along with a comprehensive report. It is essential to discuss these results with a qualified healthcare provider or genetic counselor to understand their implications fully. The turnaround time for results is approximately 3 to 4 weeks.
Test Pricing
| Test Name | Discount Price | Regular Price |
|---|---|---|
| TSEN2 Gene Pontocerebellar Hypoplasia Type 2B NGS Genetic DNA Test | 40,000 KSh | 56,000 KSh |
Book Your Test Today!
We have branches across Kenya, including Nairobi, Mombasa, and Kisumu, and offer a home sample collection service for your convenience. To book the TSEN2 Gene Pontocerebellar Hypoplasia Type 2B NGS Genetic DNA Test, please call or WhatsApp us at +254713408028.
Pre-Test Instructions
Before undergoing the TSEN2 Gene Pontocerebellar Hypoplasia Type 2B NGS Genetic DNA Test, it is essential to have a clinical history of the patient. A genetic counseling session to draw a pedigree chart of family members affected with TSEN2 Gene Pontocerebellar Hypoplasia Type 2B is recommended.
For more information about the test or to schedule an appointment, reach out to us today!
