FBN1 Gene Stiff Skin Syndrome NGS Genetic DNA Test
Introduction to the FBN1 Gene Stiff Skin Syndrome NGS Genetic DNA Test
The FBN1 Gene Stiff Skin Syndrome NGS Genetic DNA Test is a cutting-edge diagnostic tool utilized to identify mutations in the FBN1 gene, which are associated with Stiff Skin Syndrome. This condition is characterized by the hardening of the skin and other connective tissues, leading to significant clinical implications. Early diagnosis through this genetic test is essential for effective management and treatment strategies.
What the Test Measures
This genetic test employs Next Generation Sequencing (NGS) technology to detect specific mutations in the FBN1 gene. By analyzing the genetic material, the test can confirm the presence of genetic anomalies that may lead to Stiff Skin Syndrome.
Who Should Consider This Test?
Individuals exhibiting symptoms such as skin stiffness, joint issues, or family history of connective tissue disorders should consider this test. Risk factors include:
- Family history of Stiff Skin Syndrome
- Presence of related symptoms
- Clinical signs of dysmorphology
Benefits of Taking the Test
Undergoing the FBN1 Gene Stiff Skin Syndrome NGS Genetic DNA Test offers numerous advantages:
- Accurate diagnosis of genetic conditions
- Guidance for treatment options
- Informed family planning and genetic counseling
- Peace of mind through understanding your genetic health
Understanding Your Results
Results from the FBN1 Gene Stiff Skin Syndrome NGS Genetic DNA Test will be interpreted by our genetic specialists. This will provide insights into any detected mutations, implications for health, and recommendations for further action if necessary.
Test Pricing
| Test Name | Discount Price | Regular Price |
|---|---|---|
| FBN1 Gene Stiff Skin Syndrome NGS Genetic DNA Test | 400,000 NGN | 560,000 NGN |
How to Book the Test
To schedule your FBN1 Gene Stiff Skin Syndrome NGS Genetic DNA Test, please call or WhatsApp us at +2348077798758. Our team is ready to assist you with any inquiries and to help 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 by FBN1 Gene Stiff Skin Syndrome.
Specialty and Department
This test falls under the Pediatrics specialty in the Genetics department, focusing on dysmorphology through advanced NGS technology.
