INPP5E Gene Joubert Syndrome Type 1 NGS Genetic DNA Test
Introduction
The INPP5E Gene Joubert Syndrome Type 1 NGS Genetic DNA Test is a specialized genetic test designed to detect mutations in the INPP5E gene, which is linked to Joubert syndrome. This condition is a neurological disorder that affects brain development and function. Early diagnosis through genetic testing is crucial for effective management and treatment of the disorder.
What the Test Measures
This test specifically measures the presence of mutations in the INPP5E gene, which can lead to Joubert syndrome. By analyzing the genetic material, healthcare providers can determine if a patient has inherited this condition.
Who Should Consider This Test
Individuals who exhibit symptoms of neurological disorders, such as developmental delays, ataxia, and abnormal eye movements, should consider this test. Additionally, those with a family history of Joubert syndrome or related disorders may benefit from genetic testing to assess their risk.
Benefits of Taking the Test
- Early detection of genetic mutations can lead to timely intervention and management.
- Provides valuable information for family planning and understanding hereditary risks.
- Guides treatment options and support services for affected individuals.
Understanding Your Results
Once the test is completed, results will be interpreted by a qualified healthcare provider. They will explain whether a mutation was detected and discuss the implications for the patient and their family. It is essential to have a genetic counseling session to understand the results fully.
Test Details and Pricing
| Test Name | Discount Price | Regular Price |
|---|---|---|
| INPP5E Gene Joubert Syndrome Type 1 NGS Genetic DNA Test | 400,000 NGN | 560,000 NGN |
How to Book the Test
To book the INPP5E Gene Joubert Syndrome Type 1 NGS Genetic DNA Test, please contact us at +2348077798758 or visit our website. Our team is ready to assist you with any questions and guide you through the booking process.
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 is required, along with a genetic counseling session to draw a pedigree chart of family members affected with INPP5E Gene Joubert syndrome type 1.
This test is performed by specialists in the Genetics department using NGS technology, ensuring accurate and reliable results.
