TCTN3 Gene Joubert Syndrome Type 18 NGS Genetic DNA Test
Introduction
The TCTN3 Gene Joubert Syndrome Type 18 NGS Genetic DNA Test is a vital diagnostic tool for identifying Joubert syndrome, a rare neurological disorder characterized by developmental delays, ataxia, and distinctive brain malformations. This test employs advanced Next-Generation Sequencing (NGS) technology to analyze the TCTN3 gene, which plays a crucial role in brain development. Early detection through this test can significantly impact patient management and family planning.
What the Test Measures
This test detects mutations in the TCTN3 gene, which are associated with Joubert syndrome type 18. By identifying specific genetic alterations, healthcare providers can better understand the underlying causes of neurological symptoms in affected individuals.
Who Should Consider This Test
Individuals who should consider the TCTN3 Gene Joubert Syndrome Type 18 NGS Genetic DNA Test include:
- Patients exhibiting symptoms of Joubert syndrome, such as developmental delays, ataxia, and abnormal eye movements.
- Families with a history of Joubert syndrome or related neurological disorders.
- Individuals with unexplained neurological symptoms.
Benefits of Taking the Test
The benefits of undergoing this genetic test include:
- Accurate diagnosis of Joubert syndrome, allowing for appropriate management and intervention.
- Informed family planning for at-risk families.
- Access to tailored treatment options based on genetic findings.
- Enhanced understanding of the genetic basis of neurological disorders.
Understanding Your Results
Results from the TCTN3 Gene Joubert Syndrome Type 18 NGS Genetic DNA Test will provide insights into the presence of mutations in the TCTN3 gene. A genetic counseling session is recommended to help interpret the results and discuss potential implications for the patient and their family.
Test Details and Pricing
Test Name | Discount Price | Regular Price |
---|---|---|
TCTN3 Gene Joubert Syndrome Type 18 NGS Genetic DNA Test | 400,000 NGN | 560,000 NGN |
How to Book the Test
To book the TCTN3 Gene Joubert Syndrome Type 18 NGS Genetic DNA Test, please contact us at +2348077798758 or visit our website. Our dedicated team is here to assist you through the booking process and answer any questions you may have.
Additional Information
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 and a genetic counseling session to draw a pedigree chart of family members affected with TCTN3 Gene Joubert syndrome type 18 is required.
For more information on the TCTN3 Gene Joubert Syndrome Type 18 NGS Genetic DNA Test and to understand its significance in diagnosing neurological disorders, reach out to us today!