EYA1 Gene Otofaciocervical Syndrome NGS Genetic DNA Test
Introduction
The EYA1 Gene Otofaciocervical Syndrome NGS Genetic DNA Test is a cutting-edge diagnostic tool utilized to detect mutations in the EYA1 gene, which are associated with a rare genetic disorder known as Otofaciocervical Syndrome. This syndrome can lead to a variety of developmental issues, particularly affecting the head and neck region. Early detection through this test can significantly influence treatment options and management strategies for affected individuals.
What the Test Measures
This test employs Next Generation Sequencing (NGS) technology to analyze the EYA1 gene. It measures specific genetic variations that may contribute to the development of Otofaciocervical Syndrome, assisting healthcare professionals in confirming a diagnosis based on clinical findings.
Who Should Consider This Test
Individuals who exhibit symptoms of Otofaciocervical Syndrome, such as facial dysmorphology, hearing loss, and other related developmental issues, should consider this test. Additionally, those with a family history of genetic disorders or congenital anomalies may benefit from genetic counseling and testing.
Benefits of Taking the Test
- Early diagnosis of genetic conditions, enabling timely intervention.
- Informed decision-making regarding management and treatment options.
- Understanding family planning implications for genetic disorders.
- Access to specialized care and resources for affected individuals.
Understanding Your Results
Upon completion of the test, results will be interpreted by genetic specialists. It is essential to understand that a positive result indicates the presence of a mutation, which may require further clinical assessment and management. Genetic counseling is recommended to discuss the implications of the results.
Test Pricing
Test Name | Discount Price (KSh) | Regular Price (KSh) |
---|---|---|
EYA1 Gene Otofaciocervical Syndrome NGS Genetic DNA Test | 40,000 | 56,000 |
Sample Type and Pre-Test Instructions
The sample required for this test can be:
- Blood
- Extracted DNA
- One drop of blood on FTA Card
Prior to testing, patients should undergo a genetic counseling session to discuss their clinical history and to draw a pedigree chart of affected family members.
Book Your Test Today!
We have branches in all major cities across Kenya, including Nairobi, Mombasa, and Kisumu. We also offer a convenient home sample collection service. For more information or to book your test, please call or WhatsApp us at +254711564616.