TSEN54 Gene Pontocerebellar Hypoplasia Type 4 NGS Genetic DNA Test
Introduction
The TSEN54 Gene Pontocerebellar Hypoplasia Type 4 NGS Genetic DNA Test is a cutting-edge diagnostic tool designed to identify mutations in the TSEN54 gene, which are associated with Pontocerebellar Hypoplasia (PCH) type 4. This condition is characterized by underdevelopment of the cerebellum and brainstem, leading to significant neurological symptoms. Understanding these genetic factors is crucial for patients and their families, as it can guide treatment options and inform future family planning.
What the Test Measures
This test utilizes Next-Generation Sequencing (NGS) technology to detect specific mutations in the TSEN54 gene. By analyzing the genetic material from a blood sample or extracted DNA, we can identify whether a patient carries mutations that may contribute to neurological disorders.
Who Should Consider This Test?
Individuals who exhibit neurological symptoms such as developmental delays, motor coordination issues, or have a family history of Pontocerebellar Hypoplasia should consider this test. Additionally, those who have undergone genetic counseling and wish to understand their genetic risks may benefit from this test.
Benefits of Taking the Test
- Identifies genetic mutations linked to neurological disorders.
- Informs treatment options and care plans for affected individuals.
- Provides valuable information for family planning and genetic counseling.
- Helps in understanding the hereditary nature of the condition.
Understanding Your Results
Results from the TSEN54 Gene Pontocerebellar Hypoplasia Type 4 NGS Genetic DNA Test will be interpreted by a qualified geneticist or neurologist. They will provide guidance on the implications of the findings, including potential health impacts and available management strategies.
Pricing Information
| Discount Price | Regular Price |
|---|---|
| 40,000 KSh | 56,000 KSh |
Test Details
- Turnaround Time: 3 to 4 Weeks
- Sample Type: Blood or Extracted DNA or One drop Blood on FTA Card
- Pre-Test Instructions: A clinical history of the patient is required, along with a genetic counseling session to draw a pedigree chart of family members affected with TSEN54 Gene Pontocerebellar Hypoplasia Type 4.
Book Your Test Today!
We have branches across Kenya and offer a home sample collection service for your convenience. To book the TSEN54 Gene Pontocerebellar Hypoplasia Type 4 NGS Genetic DNA Test, please call or WhatsApp us at +254711564616.
