CHN1 Gene Duane Retraction Syndrome NGS Genetic DNA Test
Comprehensive Genetic Testing for Duane Retraction Syndrome
The CHN1 Gene Duane Retraction Syndrome NGS Genetic DNA Test represents a breakthrough in ophthalmology genetic diagnostics, offering precise detection of mutations in the CHN1 gene associated with Duane Retraction Syndrome (DRS). This congenital eye movement disorder affects approximately 1 in 1,000 people worldwide and is characterized by limited horizontal eye movement, retraction of the eyeball into the orbit, and narrowing of the eyelid fissure during attempted adduction.
What Does This Test Measure?
Our advanced NGS-based genetic test specifically targets the CHN1 gene, which encodes the chimerin 1 protein crucial for proper cranial nerve development. The test detects:
- Point mutations and single nucleotide variants in the CHN1 gene
- Small insertions and deletions affecting gene function
- Copy number variations and structural rearrangements
- Pathogenic variants associated with autosomal dominant Duane Retraction Syndrome
Who Should Consider This Test?
This genetic test is recommended for individuals presenting with:
- Limited horizontal eye movement, particularly abduction
- Eyeball retraction during attempted adduction
- Upshoot or downshoot of the eye in adduction
- Abnormal head positioning or compensatory head turns
- Strabismus or misalignment of the eyes
- Family history of Duane Retraction Syndrome or related eye movement disorders
- Unexplained congenital ophthalmoplegia
Key Benefits of CHN1 Genetic Testing
- Accurate Diagnosis: Provides definitive genetic confirmation of Duane Retraction Syndrome
- Family Planning: Enables informed reproductive decisions for affected families
- Treatment Guidance: Helps ophthalmologists develop targeted management strategies
- Genetic Counseling: Supports comprehensive family risk assessment
- Early Intervention: Facilitates timely therapeutic approaches for better outcomes
- Differential Diagnosis: Distinguishes DRS from other congenital eye movement disorders
Understanding Your Test Results
Your genetic test results will be carefully interpreted by our team of certified genetic counselors and ophthalmology specialists:
- Positive Result: Indicates the presence of a pathogenic CHN1 gene mutation, confirming genetic diagnosis of Duane Retraction Syndrome
- Negative Result: Suggests no detectable CHN1 mutation, though clinical evaluation remains essential
- Variant of Uncertain Significance: Requires additional family studies and clinical correlation
- Carrier Status: Important information for family members and future generations
Test Details and Pricing
| Test Component | Details |
|---|---|
| Test Name | CHN1 Gene Duane Retraction Syndrome NGS Genetic DNA Test |
| Regular Price | $700 USD |
| Discount Price | $500 USD |
| Turnaround Time | 3 to 4 Weeks |
| Sample Type | Blood, Extracted DNA, or One Drop Blood on FTA Card |
| Testing Method | Next Generation Sequencing (NGS) Technology |
| Specialty | Ophthalmology Genetics |
Pre-Test Requirements
Before scheduling your CHN1 genetic test, we recommend:
- Comprehensive clinical history documentation
- Genetic counseling session to create detailed family pedigree
- Ophthalmology evaluation and examination
- Discussion of potential implications and limitations of testing
Nationwide Accessibility
We have conveniently located branches across the United States, serving major metropolitan areas including New York, Los Angeles, Chicago, Houston, Phoenix, and Philadelphia. Our state-of-the-art genetic testing facilities ensure consistent quality and reliable results nationwide.
Take the Next Step Toward Genetic Clarity
If you or a family member experiences symptoms of Duane Retraction Syndrome, don’t delay in seeking genetic answers. Our comprehensive CHN1 genetic testing provides the clarity needed for proper diagnosis and management. Contact our genetic specialists today to schedule your consultation and testing.
Call or WhatsApp: +1(267) 388-9828 to book your CHN1 Gene Duane Retraction Syndrome NGS Genetic DNA Test today. Our team is ready to answer your questions and guide you through the testing process.
