CRYBB1 Gene Cataract Type 17 Multiple Types NGS Genetic DNA Test
Comprehensive Genetic Testing for Hereditary Cataracts
The CRYBB1 Gene Cataract Type 17 Multiple Types NGS Genetic DNA Test represents a breakthrough in ophthalmic genetic diagnostics, offering precise detection of mutations responsible for hereditary cataract formation. This advanced test specifically targets the CRYBB1 gene, which encodes beta-crystallin proteins essential for maintaining lens transparency and optical clarity throughout life.
What Does This Test Measure?
Our comprehensive NGS genetic test analyzes the complete coding region of the CRYBB1 gene to identify pathogenic variants associated with Cataract Type 17. The test detects:
- Point mutations affecting beta-crystallin protein structure
- Frameshift mutations disrupting normal protein function
- Nonsense mutations leading to truncated proteins
- Splice site variants affecting gene expression
- Multiple cataract phenotypes including congenital, juvenile, and adult-onset forms
Who Should Consider This Test?
This genetic test is recommended for individuals experiencing:
- Early-onset cataracts before age 40
- Family history of congenital cataracts
- Bilateral cataract development in childhood
- Progressive lens opacification without typical risk factors
- Multiple family members with cataract diagnoses
- Suspected hereditary eye disorders
- Planning for family with known CRYBB1 gene mutations
Clinical Benefits of CRYBB1 Genetic Testing
Understanding your genetic predisposition to cataract development offers numerous advantages:
- Early Intervention: Enables proactive monitoring and timely treatment
- Personalized Management: Guides appropriate surgical timing and approach
- Family Planning: Provides genetic counseling information for reproductive decisions
- Risk Assessment: Identifies at-risk family members for preventive care
- Differential Diagnosis: Distinguishes hereditary from acquired cataracts
- Treatment Optimization: Informs selection of intraocular lens types
Understanding Your Test Results
Your genetic test report will provide comprehensive information about CRYBB1 gene status:
- Positive Result: Indicates presence of pathogenic CRYBB1 mutation requiring ophthalmology follow-up
- Negative Result: Suggests alternative causes for cataract development
- Variant of Uncertain Significance: Requires additional family studies and clinical correlation
- Carrier Status: Important for family planning and genetic counseling
Test Pricing and Details
| Test Feature | Details |
|---|---|
| Test Name | CRYBB1 Gene Cataract Type 17 Multiple Types 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:
- Complete clinical history documentation
- Genetic counseling session to create family pedigree chart
- Discussion of test implications with healthcare provider
- Understanding of potential results and their significance
Nationwide Testing Availability
GGC DNA provides comprehensive genetic testing services across the United States with convenient locations in 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 laboratories ensure accurate and reliable results for patients nationwide.
Take Control of Your Eye Health Today
Don’t let hereditary cataract risks compromise your vision. Early genetic detection through the CRYBB1 Gene Cataract Type 17 Multiple Types NGS Genetic DNA Test provides valuable insights for proactive eye care management. Our experienced genetic counselors and ophthalmology specialists are ready to guide you through the testing process and help interpret your results.
Call or WhatsApp us today at +1(267) 388-9828 to schedule your genetic test consultation and take the first step toward understanding your hereditary eye health risks.
