Sox9 Gene Campomelic Dysplasia NGS Genetic DNA Test
Introduction
The Sox9 Gene Campomelic Dysplasia NGS Genetic DNA Test is an advanced diagnostic tool designed to identify mutations in the SOX9 gene, which are associated with Campomelic dysplasia, a rare skeletal disorder. This test plays a crucial role in the early diagnosis and management of patients, particularly in pediatrics, allowing for timely interventions and informed family planning.
What the Test Measures
This test utilizes Next-Generation Sequencing (NGS) technology to detect mutations in the SOX9 gene. It provides a comprehensive analysis of the genetic material, helping to identify specific changes that may lead to Campomelic dysplasia.
Who Should Consider This Test
Individuals who exhibit symptoms such as skeletal abnormalities, short stature, or other dysmorphic features should consider this test. Additionally, families with a history of genetic disorders or those who have undergone genetic counseling may benefit from this diagnostic tool.
Benefits of Taking the Test
- Early diagnosis of Campomelic dysplasia.
- Informed decision-making regarding treatment options.
- Guidance for family planning and understanding inheritance patterns.
- Access to specialized care and management strategies.
Understanding Your Results
Results from the Sox9 Gene Campomelic Dysplasia NGS Genetic DNA Test will indicate whether any mutations in the SOX9 gene are present. Positive results may lead to further genetic counseling and discussions regarding potential health implications for the patient and family members.
Test Pricing
| Test Name | Discount Price | Regular Price |
|---|---|---|
| Sox9 Gene Campomelic Dysplasia NGS Genetic DNA Test | 400,000 NGN | 560,000 NGN |
Booking the Test
To book the Sox9 Gene Campomelic Dysplasia NGS Genetic DNA Test, please contact us at +2348077798758. Our team is ready to assist you with scheduling your appointment and any inquiries you may have.
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 genetic counseling session is recommended to draw a pedigree chart of family members affected by the SOX9 gene.
