ADAMTSL4 Gene Ectopia Lentis et Pupillae NGS Genetic DNA Test
Comprehensive Genetic Testing for Inherited Eye Disorders
The ADAMTSL4 Gene Ectopia Lentis et Pupillae NGS Genetic DNA Test represents a breakthrough in ophthalmic genetic diagnostics, offering precise detection of mutations associated with ectopia lentis et pupillae. This rare inherited condition affects the positioning of both the lens and pupil within the eye, leading to significant visual impairment and potential complications if left undiagnosed. Our advanced testing methodology provides healthcare providers and patients with definitive genetic information crucial for accurate diagnosis and personalized treatment planning.
What Does This Test Measure and Detect?
This specialized genetic test utilizes Next Generation Sequencing (NGS) technology to comprehensively analyze the ADAMTSL4 gene for pathogenic variants. The test specifically identifies:
- Point mutations and small insertions/deletions in the ADAMTSL4 gene
- Genetic variations responsible for ectopia lentis et pupillae syndrome
- Inherited mutations affecting ocular development and structure
- Both autosomal recessive and dominant inheritance patterns
- Novel variants that may contribute to the disorder
Who Should Consider This Genetic Test?
This test is particularly recommended for individuals presenting with:
- Unexplained lens displacement (ectopia lentis)
- Abnormal pupil positioning or irregular pupil shape
- Family history of inherited eye disorders
- Multiple family members with similar ocular abnormalities
- Suspected genetic syndromes affecting eye development
- Children with congenital eye positioning issues
- Patients with unexplained visual impairment and structural eye abnormalities
Clinical Benefits of Genetic Testing
Undergoing the ADAMTSL4 genetic test provides numerous advantages for patients and their families:
- Accurate Diagnosis: Confirms or rules out genetic causes of eye abnormalities
- Family Planning: Enables informed reproductive decisions for at-risk couples
- Early Intervention: Facilitates timely treatment and management strategies
- Genetic Counseling: Provides basis for comprehensive family risk assessment
- Personalized Care: Guides ophthalmologists in developing targeted treatment plans
- Prognostic Information: Helps predict disease progression and potential complications
Understanding Your Test Results
Our comprehensive genetic analysis provides clear, actionable results:
- Positive Result: Indicates the presence of pathogenic ADAMTSL4 mutations, confirming the genetic diagnosis of ectopia lentis et pupillae
- Negative Result: Suggests that ADAMTSL4 mutations are not detected, though other genetic causes may need investigation
- Variant of Uncertain Significance: Identifies genetic changes whose clinical significance requires further evaluation
- Carrier Status: Determines if individuals carry one copy of a mutated gene without showing symptoms
All results are accompanied by detailed interpretation and recommendations for follow-up care with your ophthalmologist and genetic counselor.
Test Pricing Information
| Test Name | Discount Price | Regular Price |
|---|---|---|
| ADAMTSL4 Gene Ectopia Lentis et Pupillae NGS Genetic DNA Test | $500 USD | $700 USD |
Nationwide Testing Availability
We proudly serve patients across the United States with convenient testing locations in all major metropolitan areas including New York, Los Angeles, Chicago, Houston, Phoenix, Philadelphia, San Antonio, San Diego, Dallas, and San Jose. Our state-of-the-art genetic testing facilities ensure consistent, high-quality results regardless of your location.
Take the Next Step Toward Genetic Clarity
Don’t let uncertainty about your eye condition affect your quality of life. Our ADAMTSL4 genetic test provides the definitive answers you need for proper diagnosis and treatment. With results available in just 3-4 weeks from blood sample collection, you can quickly move forward with confidence in your healthcare journey.
Call or WhatsApp us today at +1(267) 388-9828 to schedule your genetic test consultation and take control of your ocular health.
