CHN1 Gene Duane Retraction Syndrome NGS Genetic DNA Test
Introduction to the Test
The CHN1 Gene Duane Retraction Syndrome NGS Genetic DNA Test is an advanced diagnostic tool designed to identify mutations in the CHN1 gene, which are responsible for Duane Retraction Syndrome (DRS), a rare genetic condition that affects eye movement. This test utilizes Next-Generation Sequencing (NGS) technology, offering a comprehensive analysis of the gene to aid in the accurate diagnosis and management of this disorder.
What the Test Measures
This genetic test measures the presence of mutations in the CHN1 gene, which are crucial for the proper functioning of eye muscles. By identifying these mutations, healthcare providers can better understand the underlying causes of DRS and tailor management strategies accordingly.
Who Should Consider This Test?
Individuals who exhibit symptoms of Duane Retraction Syndrome, such as limited eye movement, misalignment of the eyes, or family history of genetic eye disorders, should consider this test. It is especially recommended for:
- Patients with unexplained strabismus (crossed eyes).
- Individuals with a family history of eye movement disorders.
- Patients who have been diagnosed with Duane Retraction Syndrome without a known genetic cause.
Benefits of Taking the Test
There are several benefits to undergoing the CHN1 Gene Duane Retraction Syndrome NGS Genetic DNA Test:
- Accurate Diagnosis: Provides definitive genetic confirmation of Duane Retraction Syndrome.
- Informed Management: Helps in planning appropriate treatment options based on genetic findings.
- Family Planning: Offers insights for family members regarding the risk of passing on the condition.
- Access to Genetic Counseling: Patients receive guidance on understanding their results and implications.
Understanding Your Results
Upon completion of the test, results will be interpreted by genetic specialists. A positive result will indicate the presence of mutations in the CHN1 gene, while a negative result suggests no identified mutations. It is essential to discuss these results with a qualified healthcare provider to understand their implications fully.
Test Details and Pricing
| Test Name | Discount Price | Regular Price |
|---|---|---|
| CHN1 Gene Duane Retraction Syndrome NGS Genetic DNA Test | 400,000 NGN | 560,000 NGN |
Booking Your Test
To book your CHN1 Gene Duane Retraction Syndrome NGS Genetic DNA Test, please contact us at +2348077798758. Our team is ready to assist you with scheduling and any questions you may have regarding the test.
Pre-Test Instructions
Before taking the test, it is advised to:
- Provide a detailed clinical history of the patient.
- Attend a genetic counseling session to create a pedigree chart of family members affected by DRS.
With a turnaround time of 3 to 4 weeks, the CHN1 Gene Duane Retraction Syndrome NGS Genetic DNA Test is a significant step towards understanding and managing this condition effectively.
