ERCC6 Gene Cerebrooculofacioskeletal Syndrome Type 1 NGS Genetic DNA Test
Introduction
The ERCC6 Gene Cerebrooculofacioskeletal Syndrome Type 1 NGS Genetic DNA Test is a cutting-edge diagnostic tool designed to identify mutations in the ERCC6 gene, which are associated with a rare genetic disorder known as cerebrooculofacioskeletal syndrome. This condition affects multiple systems in the body, leading to a range of physical and neurological challenges. Understanding the genetic basis of this syndrome is crucial for effective management and support of affected individuals and their families.
What the Test Measures
This test utilizes Next Generation Sequencing (NGS) technology to analyze the ERCC6 gene thoroughly. It detects specific mutations that may contribute to the symptoms associated with cerebrooculofacioskeletal syndrome, providing a comprehensive picture of the genetic factors involved.
Who Should Consider This Test?
Individuals who exhibit symptoms such as developmental delays, skeletal abnormalities, and distinctive facial features should consider this test. Additionally, families with a history of cerebrooculofacioskeletal syndrome or related conditions may benefit from genetic testing to understand their risk and make informed decisions regarding family planning.
Benefits of Taking the Test
- Provides definitive diagnosis and understanding of the genetic basis of the condition.
- Helps in tailoring management and treatment plans for affected individuals.
- Offers insights for family members regarding their own risk and potential testing.
- Facilitates informed decision-making for future pregnancies.
Understanding Your Results
Results from the ERCC6 Gene Cerebrooculofacioskeletal Syndrome Type 1 NGS Genetic DNA Test will be interpreted by qualified genetic counselors. They will provide guidance on what the results mean for you and your family, including any implications for health management and future planning.
Test Pricing
| Test Name | Discount Price (NGN) | Regular Price (NGN) |
|---|---|---|
| ERCC6 Gene Cerebrooculofacioskeletal Syndrome Type 1 NGS Genetic DNA Test | 400,000 | 560,000 |
Booking Information
To book the ERCC6 Gene Cerebrooculofacioskeletal Syndrome Type 1 NGS Genetic DNA Test, please contact us at +2348077798758 via call or WhatsApp. Our team is ready to assist you with scheduling and any inquiries you may have.
Turnaround time for results is approximately 3 to 4 weeks. Please ensure to provide a clinical history and attend a genetic counseling session prior to the test.
