SORD Gene Congenital Cataract NGS Genetic DNA Test
Comprehensive Genetic Testing for Inherited Eye Disorders
The SORD Gene Congenital Cataract NGS Genetic DNA Test represents a breakthrough in genetic diagnostics for inherited eye conditions. This advanced test specifically targets mutations in the SORD (sorbitol dehydrogenase) gene, which plays a crucial role in the polyol pathway and is essential for maintaining lens transparency. Congenital cataracts caused by SORD gene mutations can lead to significant vision impairment from birth, making early detection and intervention vital for optimal visual outcomes.
What Does the Test Measure and Detect?
This sophisticated genetic analysis utilizes Next-Generation Sequencing (NGS) technology to comprehensively examine the SORD gene for pathogenic variants. The test specifically detects:
- Point mutations and single nucleotide variants in the SORD gene
- Small insertions and deletions affecting gene function
- Copy number variations that may impact gene expression
- Specific genetic markers associated with congenital cataract development
- Inheritance patterns that help determine familial risk
Who Should Consider This Test?
This genetic test is recommended for individuals experiencing or at risk for:
- Newborns with congenital cataracts or lens opacities
- Children with unexplained vision abnormalities present from birth
- Individuals with family history of congenital cataracts
- Parents planning pregnancy with known genetic risks
- Patients with early-onset cataracts without clear environmental causes
- Families seeking genetic counseling for inherited eye disorders
Key Symptoms and Clinical Indications
Clinical indications for testing include:
- Cloudy or opaque lens appearance in infants
- Poor visual tracking or responsiveness in newborns
- Nystagmus (involuntary eye movements)
- Strabismus (misaligned eyes)
- Family history spanning multiple generations
- Bilateral cataract presentation
Benefits of SORD Gene Congenital Cataract Testing
Early Intervention and Treatment Planning
Early genetic diagnosis enables timely medical and surgical interventions that can preserve vision and prevent complications. Understanding the specific genetic cause allows for personalized treatment approaches and better prediction of disease progression.
Family Planning and Genetic Counseling
The test provides crucial information for family planning decisions, helping couples understand inheritance risks and reproductive options. Genetic counseling based on test results can guide informed decisions about future pregnancies.
Comprehensive Risk Assessment
By identifying specific SORD gene mutations, healthcare providers can assess the risk for other family members and implement appropriate screening protocols for at-risk relatives.
Understanding Your Test Results
Positive Result Interpretation
A positive result indicates the presence of pathogenic variants in the SORD gene associated with congenital cataracts. This confirmation enables:
- Targeted ophthalmological management
- Early surgical intervention when indicated
- Comprehensive genetic counseling for the family
- Regular monitoring for associated ocular conditions
Negative Result Interpretation
A negative result suggests that no known pathogenic SORD gene variants were detected. However, this does not completely rule out genetic causes, as other genes may be involved in congenital cataract formation.
Variant of Uncertain Significance
Some results may identify genetic changes with unclear clinical significance. In such cases, additional family studies and clinical correlation are recommended to determine the variant’s impact.
Test Details and Pricing
| Test Feature | Details |
|---|---|
| Test Name | SORD Gene Congenital Cataract 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 undergoing testing, patients should provide:
- Complete clinical history related to eye health and vision
- Detailed family medical history with emphasis on eye disorders
- Participation in genetic counseling session
- Creation of pedigree chart documenting affected family members
- Informed consent for genetic testing
Nationwide Availability Across USA
We have diagnostic centers conveniently located in all major cities across the United States, including New York, Los Angeles, Chicago, Houston, Phoenix, Philadelphia, San Antonio, San Diego, Dallas, and San Jose. Our state-of-the-art facilities ensure accurate testing and comprehensive support throughout the genetic testing process.
Take Control of Your Genetic Health Today
Don’t let uncertainty about inherited eye conditions affect your family’s future. The SORD Gene Congenital Cataract NGS Genetic DNA Test provides the clarity needed for informed healthcare decisions and proactive management of genetic risks.
Call or WhatsApp us today at +1(267) 388-9828 to schedule your genetic counseling session and book your test. Our genetic specialists are ready to guide you through the testing process and help you understand your results.
Early detection through genetic testing can make a significant difference in vision outcomes and quality of life. Take the first step toward understanding your genetic risks and protecting your family’s eye health.
