TSEN54 Gene Pontocerebellar Hypoplasia Type 5 NGS Genetic DNA Test
Introduction
The TSEN54 Gene Pontocerebellar Hypoplasia Type 5 NGS Genetic DNA Test is a specialized diagnostic test that analyzes the TSEN54 gene, which is known to be associated with pontocerebellar hypoplasia type 5 (PCH5), a rare neurological disorder. Understanding the genetic basis of this condition is essential for effective patient management and family planning. This test leverages Next Generation Sequencing (NGS) technology to provide accurate and comprehensive results.
What the Test Measures
This test detects mutations in the TSEN54 gene, which are linked to the development of pontocerebellar hypoplasia type 5. By identifying these genetic alterations, healthcare professionals can better understand the risk factors and implications for affected individuals.
Who Should Consider This Test
This test is recommended for:
- Individuals exhibiting symptoms of neurological disorders.
- Families with a history of pontocerebellar hypoplasia or other related conditions.
- Patients referred by neurologists or genetic specialists for further investigation of genetic disorders.
Benefits of Taking the Test
The TSEN54 Gene Pontocerebellar Hypoplasia Type 5 NGS Genetic DNA Test offers several benefits, including:
- Accurate identification of genetic mutations associated with PCH5.
- Informed decision-making for families regarding future pregnancies.
- Guidance for healthcare providers in managing the care of affected individuals.
- Access to genetic counseling and support services.
Understanding Your Results
Results from the TSEN54 Gene Pontocerebellar Hypoplasia Type 5 NGS Genetic DNA Test will be interpreted by qualified genetic counselors and medical professionals. They will provide insights into the implications of the findings, including potential risks and management strategies for affected individuals. It is important to discuss these results in the context of clinical history and family background.
Test Pricing
| Test Name | Discount Price | Regular Price |
|---|---|---|
| TSEN54 Gene Pontocerebellar Hypoplasia Type 5 NGS Genetic DNA Test | 400,000 NGN | 560,000 NGN |
Booking the Test
To book the TSEN54 Gene Pontocerebellar Hypoplasia Type 5 NGS Genetic DNA Test, please contact us at +2348077798758 or visit our website for more information. Our team is ready to assist you with scheduling and provide any additional information you may need.
Pre-Test Instructions
Before undergoing the TSEN54 Gene Pontocerebellar Hypoplasia Type 5 NGS Genetic DNA Test, it is essential to:
- Provide a detailed clinical history to your healthcare provider.
- Attend a genetic counseling session to create a pedigree chart of family members affected by TSEN54 Gene Pontocerebellar Hypoplasia Type 5.
Sample Type
The test requires a sample of blood or extracted DNA, or one drop of blood on an FTA card.
Turnaround Time
The results of the TSEN54 Gene Pontocerebellar Hypoplasia Type 5 NGS Genetic DNA Test are typically available within 3 to 4 weeks.
For more information or to schedule your test, contact us today!
