TSEN34 Gene Pontocerebellar Hypoplasia Type 2C NGS Genetic DNA Test
Introduction
The TSEN34 Gene Pontocerebellar Hypoplasia Type 2C NGS Genetic DNA Test is a specialized genetic test designed to identify mutations in the TSEN34 gene, which are linked to Pontocerebellar Hypoplasia (PCH). This condition is characterized by underdevelopment of the cerebellum and pons, leading to severe neurological symptoms. Understanding the genetic basis of this disorder is crucial for diagnosis, treatment, and family planning.
What the Test Measures
This test utilizes Next Generation Sequencing (NGS) technology to detect specific genetic mutations in the TSEN34 gene. It provides detailed insights into the genetic variations that contribute to the development of neurological disorders associated with Pontocerebellar Hypoplasia Type 2C.
Who Should Consider This Test?
Individuals who exhibit symptoms of neurological disorders, such as developmental delays, motor skill difficulties, or have a family history of Pontocerebellar Hypoplasia should consider this test. Risk factors include:
- Family history of genetic disorders
- Presence of neurological symptoms in children
- Previous diagnoses of related conditions
Benefits of Taking the Test
- Accurate diagnosis of PCH and related neurological disorders
- Informed family planning and genetic counseling
- Access to targeted therapies and management strategies
- Peace of mind through understanding genetic risks
Understanding Your Results
Results from the TSEN34 Gene Pontocerebellar Hypoplasia Type 2C NGS Genetic DNA Test will be provided within 3 to 4 weeks. A genetic counselor will help interpret the results, discussing the implications for the patient and their family, including potential health management and treatment options.
Test Pricing
Test Name | Discount Price | Regular Price |
---|---|---|
TSEN34 Gene Pontocerebellar Hypoplasia Type 2C NGS Genetic DNA Test | 40,000 KSh | 56,000 KSh |
Sample Collection and Instructions
We offer convenient home sample collection services across Kenya. For this test, a blood sample or extracted DNA is required. Prior to testing, a genetic counseling session is recommended to gather the clinical history of the patient and to draw a pedigree chart of affected family members.
Book Your Test Today
Don’t wait to understand your genetic health. Book the TSEN34 Gene Pontocerebellar Hypoplasia Type 2C NGS Genetic DNA Test today! Call or WhatsApp us at +254711564616 to schedule your appointment or learn more about our services available in all major cities in Kenya.