RAB23 Gene Carpenter Syndrome NGS Genetic DNA Test
Introduction to the RAB23 Gene Carpenter Syndrome NGS Genetic DNA Test
The RAB23 Gene Carpenter Syndrome NGS Genetic DNA Test is a cutting-edge diagnostic tool designed to identify mutations in the RAB23 gene that may lead to Carpenter syndrome. This syndrome is characterized by distinct physical malformations and can significantly affect the quality of life of individuals. By utilizing Next Generation Sequencing (NGS) technology, this test provides a comprehensive analysis of the genetic factors contributing to this condition.
What the Test Measures
This genetic test specifically measures alterations in the RAB23 gene. By detecting these mutations, healthcare providers can better understand the genetic basis of Carpenter syndrome, aiding in accurate diagnosis and management.
Who Should Consider This Test?
Individuals who should consider the RAB23 Gene Carpenter Syndrome NGS Genetic DNA Test include:
- Patients exhibiting symptoms of Carpenter syndrome, such as craniosynostosis, polydactyly, and other physical anomalies.
- Family members of individuals diagnosed with Carpenter syndrome who may be at risk of carrying the genetic mutation.
- Parents with a family history of unexplained congenital anomalies or developmental delays.
Benefits of Taking the Test
- Provides a definitive diagnosis for Carpenter syndrome, allowing for informed medical decisions.
- Helps in understanding the risk of recurrence in future pregnancies.
- Facilitates genetic counseling for affected families, providing support and guidance.
- Enables early intervention and management strategies to improve quality of life.
Understanding Your Results
Once the test is completed, results will be analyzed and interpreted by genetic specialists. It is essential to discuss the outcomes with a healthcare provider to understand the implications of the findings and the next steps in management.
Test Pricing
| Test Name | Discount Price | Regular Price |
|---|---|---|
| RAB23 Gene Carpenter Syndrome NGS Genetic DNA Test | 400,000 NGN | 560,000 NGN |
How to Book the Test
To schedule your RAB23 Gene Carpenter Syndrome NGS Genetic DNA Test, please contact us at +2348077798758. Our team is ready to assist you with any questions and guide you through the booking process.
Additional Information
Turnaround time for results is approximately 3 to 4 weeks. The test requires a sample type of blood, extracted DNA, or one drop of blood on an FTA card. Prior to the test, a clinical history of the patient is needed, along with a genetic counseling session to create a pedigree chart of family members affected by the RAB23 gene.
Invest in your health and the health of your family by understanding your genetic risks today!
