EVC2 Gene Ellisvan Creveld Syndrome NGS Genetic DNA Test
Introduction
The EVC2 Gene Ellisvan Creveld Syndrome NGS Genetic DNA Test is a specialized genetic test designed to identify mutations in the EVC2 gene, which are associated with Ellis-van Creveld syndrome. This condition is characterized by skeletal dysplasia and various other physical anomalies. Early diagnosis through this test is essential for effective management and treatment planning.
What the Test Measures
This test utilizes Next Generation Sequencing (NGS) technology to detect specific genetic variations in the EVC2 gene. By analyzing the genetic material, healthcare providers can determine if an individual carries mutations that may lead to Ellis-van Creveld syndrome.
Who Should Consider This Test?
Individuals who exhibit symptoms of dysmorphology, such as short stature, polydactyly, and dental anomalies, should consider this test. Additionally, those with a family history of Ellis-van Creveld syndrome or related conditions are also recommended to undergo testing.
Benefits of Taking the Test
- Early diagnosis allows for timely intervention and management of symptoms.
- Provides valuable information for family planning and genetic counseling.
- Helps in understanding the risk of passing the condition to future generations.
- Guides healthcare providers in tailoring treatment plans based on genetic findings.
Understanding Your Results
Results from the EVC2 Gene Ellisvan Creveld Syndrome NGS Genetic DNA Test will be interpreted by qualified genetic counselors and healthcare professionals. They will provide guidance on the implications of the results, including the likelihood of developing symptoms and options for management.
Test Pricing
| Test Name | Discount Price | Regular Price |
|---|---|---|
| EVC2 Gene Ellisvan Creveld Syndrome NGS Genetic DNA Test | 400,000 NGN | 560,000 NGN |
Book Your Test Today!
To schedule your EVC2 Gene Ellisvan Creveld 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: 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, along with a genetic counseling session to draw a pedigree chart of family members affected with EVC2 Gene Ellis-van Creveld syndrome.
