CRYBB3 Gene Cataract Autosomal Recessive Congenital Nuclear Type 2 NGS Genetic DNA Test
Comprehensive Genetic Testing for Congenital Cataracts
The CRYBB3 Gene Cataract Autosomal Recessive Congenital Nuclear Type 2 NGS Genetic DNA Test represents a breakthrough in ophthalmic genetic diagnostics. This advanced test specifically targets mutations in the CRYBB3 gene, which encodes beta-crystallin proteins essential for maintaining lens transparency and proper eye development. Congenital nuclear cataracts caused by CRYBB3 mutations typically present at birth or during early infancy and can significantly impact visual development if left undiagnosed.
What This Test Measures and Detects
Our specialized NGS genetic test provides comprehensive analysis of the CRYBB3 gene to identify:
- Pathogenic variants and mutations in the CRYBB3 gene
- Autosomal recessive inheritance patterns for congenital nuclear type 2 cataracts
- Specific genetic markers associated with lens opacity development
- Risk assessment for offspring inheritance
- Early detection capabilities before clinical symptoms manifest
Who Should Consider This Genetic Test
This specialized genetic test is recommended for individuals experiencing or at risk for:
- Infants and children with congenital cataracts or lens opacities
- Individuals with family history of congenital nuclear cataracts
- Parents planning pregnancy with known genetic cataract risks
- Patients with unexplained vision problems in early childhood
- Individuals from families with consanguineous marriages
- Those requiring precise genetic diagnosis for treatment planning
Common Symptoms and Clinical Indications
- Cloudy or opaque lens appearance in infants
- Poor visual tracking and response in newborns
- Nystagmus (involuntary eye movements)
- Strabismus (misaligned eyes)
- Family history of early-onset cataracts
- Bilateral lens opacities present at birth
Benefits of CRYBB3 Genetic Testing
Choosing our advanced genetic testing provides numerous advantages:
- Early Diagnosis: Enables prompt intervention and treatment planning
- Accurate Genetic Counseling: Provides precise risk assessment for family planning
- Personalized Treatment: Guides appropriate surgical timing and approach
- Family Risk Assessment: Identifies carrier status in relatives
- Comprehensive Analysis: Utilizes cutting-edge NGS technology for maximum accuracy
- Expert Interpretation: Results reviewed by certified genetic counselors and ophthalmologists
Understanding Your Test Results
Your genetic test results will provide clear, actionable information:
- Positive Result: Indicates presence of pathogenic CRYBB3 mutations, confirming diagnosis of autosomal recessive congenital nuclear type 2 cataracts
- Negative Result: Suggests absence of detectable CRYBB3 mutations, though other genetic causes may need consideration
- Variant of Uncertain Significance: Identifies genetic changes requiring further clinical correlation
- Carrier Status: Determines if you carry one copy of the mutated gene without showing symptoms
All results include comprehensive interpretation by our genetic specialists and recommendations for next steps, including consultation with ophthalmologists and genetic counselors.
Test Pricing and Details
| Test Feature | Details |
|---|---|
| Test Name | CRYBB3 Gene Cataract Autosomal Recessive Congenital Nuclear Type 2 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 scheduling your test, please ensure you have:
- Complete clinical history of the patient
- Genetic counseling session to create a detailed family pedigree chart
- Documentation of affected family members with CRYBB3-related cataracts
- Referral from an ophthalmologist or genetic specialist
Nationwide Availability
We have testing facilities conveniently located across the United States, including major metropolitan areas such as New York, Los Angeles, Chicago, Houston, Phoenix, Philadelphia, San Antonio, San Diego, Dallas, San Jose, and many other cities. Our network of certified collection centers ensures accessible testing regardless of your location.
Take Control of Your Genetic Health Today
Early detection and accurate diagnosis of CRYBB3 gene mutations can significantly impact treatment outcomes and quality of life. Our specialized genetic testing provides the clarity needed for informed medical decisions and family planning.
Ready to schedule your test? Contact our genetic specialists today at +1(267) 388-9828 or book your appointment online. Our team is available to answer your questions and guide you through the testing process with compassion and expertise.
Don’t let genetic uncertainty cloud your vision. Take the first step toward clarity and peace of mind with our comprehensive CRYBB3 genetic testing service.
