CPLANE1 Gene Joubert Syndrome Type 17 NGS Genetic DNA Test
Introduction to the CPLANE1 Gene Joubert Syndrome Type 17 NGS Genetic DNA Test
The CPLANE1 Gene Joubert Syndrome Type 17 NGS Genetic DNA Test is a state-of-the-art diagnostic tool designed to identify genetic mutations associated with Joubert syndrome, a rare neurological disorder. This test employs Next Generation Sequencing (NGS) technology, allowing for comprehensive analysis of the CPLANE1 gene, which plays a critical role in brain development and function.
What the Test Measures
This genetic test specifically measures mutations within the CPLANE1 gene, which can lead to Joubert syndrome. By analyzing the genetic material, healthcare providers can determine if a patient has inherited mutations that may contribute to neurological disorders.
Who Should Consider This Test?
Individuals who exhibit symptoms associated with Joubert syndrome, such as developmental delays, ataxia, or abnormal eye movements, should consider this test. Additionally, those with a family history of neurological disorders or congenital anomalies may benefit from genetic testing.
Benefits of Taking the Test
- Accurate diagnosis of Joubert syndrome and related disorders.
- Informed decisions regarding treatment and management options.
- Understanding of genetic risks for family members.
- Access to genetic counseling for better health planning.
Understanding Your Results
Results from the CPLANE1 Gene Joubert Syndrome Type 17 NGS Genetic DNA Test will provide insight into the presence of specific mutations. A qualified healthcare provider will assist in interpreting these results and discussing potential implications for treatment and family planning.
Test Pricing
| Price Type | Amount (NGN) |
|---|---|
| Discount Price | 400,000 NGN |
| Regular Price | 560,000 NGN |
Book the Test Today!
To schedule your CPLANE1 Gene Joubert Syndrome Type 17 NGS Genetic DNA Test, please contact us at +2348077798758. Our team is ready to assist you with any inquiries and help you understand the importance of genetic testing in managing neurological disorders.
Test Details
- Turnaround Time: 3 to 4 Weeks
- Sample Type: Blood or Extracted DNA or One drop Blood on FTA Card
- Pre-Test Instructions: Clinical history of the patient and a genetic counseling session to draw a pedigree chart of family members affected with CPLANE1 Gene Joubert syndrome type 17.
- Specialty: Neurology
- Department: Genetics
- Method: NGS Technology
- Disease Type: Neurological Disorders
