TWIST1 Gene Saethre-Chotzen Syndrome NGS Genetic DNA Test
Introduction to the Test
The TWIST1 Gene Saethre-Chotzen Syndrome NGS Genetic DNA Test is a specialized genetic test designed to identify mutations in the TWIST1 gene, which are associated with Saethre-Chotzen syndrome, a condition that affects craniosynostosis and results in various dysmorphic features. This test leverages Next-Generation Sequencing (NGS) technology to provide accurate and comprehensive genetic information crucial for diagnosis and management.
What the Test Measures
This test specifically measures the presence of mutations in the TWIST1 gene. By analyzing the genetic material, healthcare providers can determine whether an individual carries mutations that may lead to the development of Saethre-Chotzen syndrome and associated health issues.
Who Should Consider This Test?
Individuals exhibiting symptoms of dysmorphology, such as abnormal head shape, hearing loss, or other craniofacial anomalies, should consider this test. Additionally, those with a family history of Saethre-Chotzen syndrome or craniosynostosis are encouraged to undergo testing, as it can provide critical insights into genetic predispositions.
Benefits of Taking the Test
- Accurate diagnosis of genetic conditions related to craniosynostosis.
- Informed decision-making regarding treatment options and management strategies.
- Provides valuable information for family planning and genetic counseling.
- Helps in understanding the risk of recurrence in future pregnancies.
Understanding Your Results
Results from the TWIST1 Gene Saethre-Chotzen Syndrome NGS Genetic DNA Test will indicate whether any mutations are present. A genetic counselor will help interpret these results, discussing the implications for health and potential management strategies. It is essential to understand that not all mutations lead to the disease, and further testing may be required in some cases.
Test Pricing
| Test Name | Discount Price | Regular Price |
|---|---|---|
| TWIST1 Gene Saethre-Chotzen Syndrome NGS Genetic DNA Test | 400,000 NGN | 560,000 NGN |
Book Your Test Today!
To take the first step towards understanding your genetic health, book the TWIST1 Gene Saethre-Chotzen Syndrome NGS Genetic DNA Test today. Contact us at +2348077798758 to schedule your appointment. Our team of experts is here to guide you through the process and ensure you receive the best care possible.
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 by the TWIST1 gene.
Specialty: Pediatrics
Department: Genetics
Method: NGS Technology
Disease Type: Dysmorphology
