TRPV3 Gene Olmsted Syndrome NGS Genetic DNA Test
Introduction to the TRPV3 Gene Olmsted Syndrome NGS Genetic DNA Test
The TRPV3 Gene Olmsted Syndrome NGS Genetic DNA Test is a cutting-edge diagnostic tool designed to identify mutations in the TRPV3 gene, which are responsible for Olmsted syndrome. This genetic condition is characterized by skin abnormalities and other systemic issues. Understanding the genetic basis of this syndrome is crucial for effective management and treatment.
What the Test Measures
This test employs Next-Generation Sequencing (NGS) technology to detect specific mutations in the TRPV3 gene. By analyzing the genetic material, clinicians can confirm a diagnosis of Olmsted syndrome and evaluate the risk of transmission to future generations.
Who Should Consider This Test?
Individuals who should consider the TRPV3 Gene Olmsted Syndrome NGS Genetic DNA Test include:
- Patients exhibiting symptoms of Olmsted syndrome, such as severe skin lesions and dysmorphic features.
- Family members of affected individuals, especially if there is a known history of the syndrome.
- Individuals with a clinical history suggestive of genetic disorders in the context of dysmorphology.
Benefits of Taking the Test
Taking the TRPV3 Gene Olmsted Syndrome NGS Genetic DNA Test provides several benefits:
- Accurate diagnosis of Olmsted syndrome, allowing for informed medical decisions.
- Identification of at-risk family members, enabling proactive health management.
- Access to genetic counseling and support resources tailored to the needs of affected individuals and families.
Understanding Your Results
Results from the TRPV3 Gene Olmsted Syndrome NGS Genetic DNA Test will be interpreted by a qualified geneticist. Generally, results may indicate:
- Presence of pathogenic mutations, confirming a diagnosis of Olmsted syndrome.
- Variants of uncertain significance, requiring further investigation.
- Negative results, which may indicate that the individual does not have the syndrome.
Test Name and Pricing
| Test Name | Discount Price | Regular Price |
|---|---|---|
| TRPV3 Gene Olmsted Syndrome NGS Genetic DNA Test | 40,000 KSh | 56,000 KSh |
Booking the Test
We have branches across all major cities in Kenya, making it easy for you to access our services. For your convenience, we also offer home sample collection services. To book the TRPV3 Gene Olmsted Syndrome NGS Genetic DNA Test, please call or WhatsApp us at +254711564616. Take the first step towards understanding your genetic health today!
Test Details
- Turnaround Time: 3 to 4 Weeks
- Sample Type: Blood or Extracted DNA or One drop Blood on FTA Card
- Pre-test Instructions: Clinical history of the patient undergoing the test, along with a genetic counseling session to draw a pedigree chart of family members affected by TRPV3 Gene Olmsted syndrome.
- Specialty: Pediatrics
- Department: Genetics
- Method: NGS Technology
- Disease Type: Dysmorphology
