SALL4 Gene Duane Retraction Syndrome NGS Genetic DNA Test
Comprehensive Genetic Testing for Eye Movement Disorders
The SALL4 Gene Duane Retraction Syndrome NGS Genetic DNA Test represents a breakthrough in ophthalmological genetic diagnostics, offering precise identification of genetic mutations 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 eye fissure during attempted adduction.
What Does This Test Measure?
This advanced genetic test specifically targets mutations in the SALL4 gene, which plays a crucial role in embryonic development and eye formation. The test utilizes Next-Generation Sequencing (NGS) technology to comprehensively analyze the entire SALL4 gene, detecting:
- Point mutations and single nucleotide variants
- Small insertions and deletions
- Copy number variations
- Structural rearrangements affecting the SALL4 gene
The SALL4 gene encodes a zinc finger transcription factor essential for normal development of cranial nerves and eye muscles. Mutations in this gene disrupt the proper innervation of the lateral rectus muscle, leading to the characteristic features of Duane Retraction Syndrome.
Who Should Consider This Test?
This genetic test is recommended for individuals presenting with symptoms suggestive of Duane Retraction Syndrome, including:
- Limited or absent horizontal eye movement
- Eyeball retraction during attempted eye movement
- Narrowing of the eye fissure when looking sideways
- Abnormal head positioning to compensate for limited eye movement
- Strabismus or misalignment of the eyes
- Family history of congenital eye movement disorders
- Unexplained vision problems in childhood
Clinical Benefits of Genetic Testing
Undergoing the SALL4 Gene Duane Retraction Syndrome NGS Genetic DNA Test provides numerous clinical advantages:
- Accurate Diagnosis: Confirms the genetic basis of eye movement abnormalities
- Personalized Treatment Planning: Enables targeted therapeutic interventions
- Genetic Counseling: Provides valuable information for family planning
- Prognostic Information: Helps predict disease progression and associated complications
- Early Intervention: Facilitates timely management strategies
- Comprehensive Care: Supports multidisciplinary approach involving ophthalmologists and genetic specialists
Understanding Your Test Results
Your genetic test results will be carefully interpreted by our team of certified genetic counselors and ophthalmology specialists. Results typically fall into three categories:
- Positive Result: Indicates the presence of a pathogenic mutation in the SALL4 gene, confirming the genetic diagnosis of Duane Retraction Syndrome
- Negative Result: Suggests no detectable mutation in the SALL4 gene, though other genetic or non-genetic causes may be considered
- Variant of Uncertain Significance: Identifies a genetic change whose clinical significance is currently unknown, requiring further evaluation
All positive results are confirmed through Sanger sequencing to ensure accuracy. Our genetic counseling team will provide comprehensive guidance on result interpretation and next steps.
Test Pricing and Details
| Test Component | Details |
|---|---|
| Test Name | SALL4 Gene Duane Retraction Syndrome NGS Genetic DNA Test |
| Discount Price | $500 USD |
| Regular Price | $700 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 |
Pre-Test Requirements
Before undergoing testing, patients should provide:
- Complete clinical history relevant to eye movement disorders
- Participation in a genetic counseling session
- Development of a pedigree chart documenting family members affected by similar conditions
- Informed consent for genetic testing
Nationwide Availability
We have diagnostic centers conveniently located across the United States, serving patients in all major metropolitan areas including New York, Los Angeles, Chicago, Houston, Phoenix, Philadelphia, San Antonio, San Diego, Dallas, San Jose, and many other cities. Our state-of-the-art laboratories ensure consistent, high-quality testing results nationwide.
Take the Next Step Toward Genetic Clarity
If you or a family member are experiencing symptoms of Duane Retraction Syndrome, don’t wait to get the answers you need. Our comprehensive genetic testing provides the clarity required for effective treatment planning and family counseling.
Call or WhatsApp us today at +1(267) 388-9828 to schedule your genetic counseling session and book your SALL4 Gene Duane Retraction Syndrome NGS Genetic DNA Test. Our dedicated team is ready to guide you through the testing process and help you understand your genetic health.
