ERCC6 Gene Cockayne Syndrome Type B NGS Genetic DNA Test
Introduction to the ERCC6 Gene Cockayne Syndrome Type B NGS Genetic DNA Test
The ERCC6 Gene Cockayne Syndrome Type B NGS Genetic DNA Test is a cutting-edge diagnostic tool that utilizes Next Generation Sequencing (NGS) technology to analyze the ERCC6 gene. This test is essential for identifying individuals at risk for Cockayne syndrome type B, a rare genetic disorder characterized by growth failure, neurological decline, and sensitivity to sunlight. Early detection through this test can significantly improve patient outcomes by facilitating timely interventions and management strategies.
What the Test Measures
This genetic test specifically measures mutations in the ERCC6 gene, which plays a vital role in DNA repair. By detecting these mutations, healthcare providers can assess the risk of developing Cockayne syndrome type B and guide families in understanding their genetic health.
Who Should Consider This Test?
Individuals who may benefit from the ERCC6 Gene Cockayne Syndrome Type B NGS Genetic DNA Test include:
- Those with a family history of Cockayne syndrome type B.
- Patients exhibiting symptoms such as growth retardation, developmental delays, or sensitivity to sunlight.
- Individuals with dysmorphic features or unexplained neurological symptoms.
Benefits of Taking the Test
The benefits of undergoing the ERCC6 Gene Cockayne Syndrome Type B NGS Genetic DNA Test include:
- Early identification of genetic predispositions, allowing for proactive healthcare measures.
- Informed family planning and risk assessment for future offspring.
- Access to tailored management plans and support services for affected individuals.
- Peace of mind through understanding one’s genetic health.
Understanding Your Results
Results from the ERCC6 Gene Cockayne Syndrome Type B NGS Genetic DNA Test will provide insights into whether a mutation is present. A negative result may offer reassurance, while a positive result can facilitate access to specialized care and resources. It is essential to discuss results with a healthcare provider or genetic counselor to understand their implications fully.
Test Pricing
| Test Name | Discount Price (NGN) | Regular Price (NGN) |
|---|---|---|
| ERCC6 Gene Cockayne Syndrome Type B NGS Genetic DNA Test | 400,000 NGN | 560,000 NGN |
Booking Information
To book the ERCC6 Gene Cockayne Syndrome Type B 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.
Pre-Test Instructions
Before taking the test, it is important to have a clinical history of the patient and to participate in a genetic counseling session. This session will help draw a pedigree chart of family members affected by the ERCC6 gene, ensuring comprehensive understanding and support.
Turnaround Time and Sample Type
The turnaround time for results is approximately 3 to 4 weeks. The sample type required for this test can be blood, extracted DNA, or one drop of blood on an FTA card.
Take the first step towards understanding your genetic health today by booking the ERCC6 Gene Cockayne Syndrome Type B NGS Genetic DNA Test!
