CSPP1 Gene Joubert Syndrome Type 21 NGS Genetic DNA Test
Introduction
The CSPP1 Gene Joubert Syndrome Type 21 NGS Genetic DNA Test is a cutting-edge diagnostic tool designed to identify genetic mutations associated with Joubert syndrome, a rare neurological disorder. This test is essential for individuals who may be at risk due to family history or presenting symptoms. By utilizing Next-Generation Sequencing (NGS) technology, we can provide a comprehensive analysis of the CSPP1 gene, offering critical insights into the genetic basis of this condition.
What the Test Measures
This test detects mutations in the CSPP1 gene that are linked to Joubert syndrome Type 21. It analyzes the DNA to identify any abnormalities that could contribute to the development of this neurological disorder.
Who Should Consider This Test?
Individuals who should consider the CSPP1 Gene Joubert Syndrome Type 21 NGS Genetic DNA Test include:
- Those with a family history of Joubert syndrome or related neurological disorders.
- Patients exhibiting symptoms such as developmental delays, coordination issues, or abnormal eye movements.
- Individuals seeking genetic counseling for informed family planning.
Benefits of Taking the Test
- Accurate identification of genetic risks associated with Joubert syndrome.
- Informed decision-making regarding treatment options and management strategies.
- Guidance for family planning and understanding hereditary patterns.
- Access to appropriate support and resources tailored to individuals diagnosed with Joubert syndrome.
Understanding Your Results
Results from the CSPP1 Gene Joubert Syndrome Type 21 NGS Genetic DNA Test will provide insights into whether any mutations were detected. It is essential to consult with a healthcare professional or genetic counselor to interpret the results accurately and discuss potential implications for health and family.
Test Pricing
| Test Name | Discount Price | Regular Price |
|---|---|---|
| CSPP1 Gene Joubert Syndrome Type 21 NGS Genetic DNA Test | 400,000 NGN | 560,000 NGN |
Booking the Test
To book the CSPP1 Gene Joubert Syndrome Type 21 NGS Genetic DNA Test, please contact us at +2348077798758 or visit our website. Our dedicated team is ready to assist you with scheduling and any questions you may have.
Turnaround time for results is approximately 3 to 4 weeks. Please ensure to provide a clinical history of the patient prior to testing and consider attending a genetic counseling session to draw a pedigree chart of family members affected with Joubert syndrome.
Sample type required for the test includes blood or extracted DNA, or one drop of blood on an FTA card.
