EVC2 Gene Ellisvan Creveld Syndrome NGS Genetic DNA Test
Introduction
The EVC2 Gene Ellisvan Creveld Syndrome NGS Genetic DNA Test is a cutting-edge genetic test that utilizes Next Generation Sequencing (NGS) technology to identify mutations in the EVC2 gene, which is responsible for Ellis-van Creveld syndrome. This condition is characterized by skeletal dysplasia, affecting the development of bones and teeth. Early diagnosis through genetic testing can significantly impact management and treatment options for affected individuals.
What the Test Measures
This genetic test specifically measures the presence of mutations in the EVC2 gene. By analyzing the DNA from a blood sample or extracted DNA, healthcare providers can confirm or rule out the diagnosis of Ellis-van Creveld syndrome.
Who Should Consider This Test?
Individuals who should consider the EVC2 Gene Ellisvan Creveld Syndrome NGS Genetic DNA Test include:
- Children with unexplained skeletal abnormalities or short stature.
- Families with a history of Ellis-van Creveld syndrome.
- Individuals presenting with symptoms such as polydactyly (extra fingers or toes), dental abnormalities, or congenital heart defects.
Benefits of Taking the Test
Taking the EVC2 Gene Ellisvan Creveld Syndrome NGS Genetic DNA Test offers several benefits:
- Accurate diagnosis of Ellis-van Creveld syndrome, allowing for informed medical decisions.
- Early intervention and management strategies can be implemented based on test results.
- Provides families with critical information regarding the inheritance of the condition.
Understanding Your Results
Results from the EVC2 Gene Ellisvan Creveld Syndrome NGS Genetic DNA Test typically take 3 to 4 weeks. It is important to consult with a genetic counselor or healthcare provider to interpret the results accurately. Understanding whether a mutation is present can guide the management and treatment of the condition.
Test Pricing
| Test Name | Discount Price (KSh) | Regular Price (KSh) |
|---|---|---|
| EVC2 Gene Ellisvan Creveld Syndrome NGS Genetic DNA Test | 40,000 | 56,000 |
Booking the Test
We have branches across Kenya, including major cities such as Nairobi, Mombasa, and Kisumu. You can also opt for our home sample collection service for your convenience. To book the EVC2 Gene Ellisvan Creveld Syndrome NGS Genetic DNA Test, please call or WhatsApp us at +254711564616.
