CRYBA4 Gene Cataract Type 23 NGS Genetic DNA Test
Comprehensive Genetic Testing for Inherited Cataracts
The CRYBA4 Gene Cataract Type 23 NGS Genetic DNA Test represents a breakthrough in molecular diagnostics for inherited eye disorders. This specialized genetic analysis focuses on identifying mutations in the CRYBA4 gene, which encodes beta-crystallin A4 – a crucial protein component of the eye lens. When mutations occur in this gene, they disrupt the structural integrity and transparency of the lens, leading to congenital cataracts that can significantly impact vision from birth or early childhood.
What Does This Test Measure?
This advanced genetic test utilizes Next Generation Sequencing (NGS) technology to comprehensively analyze the CRYBA4 gene for pathogenic variants. The test specifically detects:
- Point mutations and single nucleotide variants in the CRYBA4 gene
- Small insertions and deletions affecting gene function
- Missense, nonsense, and frameshift mutations
- Genetic variants associated with autosomal dominant congenital cataracts
- Mutations affecting beta-crystallin protein structure and function
Who Should Consider This Test?
This genetic test is recommended for individuals experiencing:
- Congenital cataracts present at birth or developing in early childhood
- Family history of inherited cataracts across multiple generations
- Unexplained lens opacities without clear environmental causes
- Early-onset vision impairment requiring surgical intervention
- Planning for family and wanting to understand inheritance risks
- Diagnostic uncertainty regarding the cause of pediatric cataracts
Clinical Benefits of Genetic Testing
Undergoing the CRYBA4 Gene Cataract Type 23 test provides numerous advantages:
- Accurate Diagnosis: Confirms genetic etiology of congenital cataracts
- Family Planning Guidance: Helps assess inheritance risks for future children
- Personalized Treatment: Informs surgical timing and management strategies
- Early Intervention: Enables proactive monitoring and vision preservation
- Genetic Counseling: Provides basis for comprehensive family risk assessment
- Peace of Mind: Reduces diagnostic uncertainty and anxiety
Understanding Your Test Results
Your genetic test results will be carefully interpreted by our team of genetic specialists and ophthalmologists. A positive result indicates the presence of a pathogenic mutation in the CRYBA4 gene, confirming the genetic basis for congenital cataracts. This information helps guide appropriate medical management and family planning decisions. A negative result suggests that CRYBA4 mutations are not the cause of the cataracts, potentially indicating other genetic or environmental factors. All results include detailed explanations and recommendations for next steps, including potential referrals to specialists and ongoing monitoring protocols.
Test Details and Pricing
| Test Component | Details |
|---|---|
| Test Name | CRYBA4 Gene Cataract Type 23 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) |
| Specialty | Ophthalmology and Genetics |
Pre-Test Requirements
Before undergoing testing, patients should provide:
- Complete clinical history including ophthalmological examinations
- Detailed family pedigree documenting cataract inheritance patterns
- Genetic counseling session to discuss testing implications and expectations
- Informed consent understanding the benefits and limitations of genetic testing
Nationwide Availability
We have branches across the United States, making this specialized genetic testing accessible to patients in all major cities including New York, Los Angeles, Chicago, Houston, Phoenix, Philadelphia, San Antonio, San Diego, Dallas, San Jose, and many more. Our network of certified genetic counselors and ophthalmology specialists ensures comprehensive care and support throughout the testing process.
Take the Next Step Toward Genetic Clarity
Don’t let uncertainty about inherited cataracts affect your vision and family planning decisions. Our CRYBA4 Gene Cataract Type 23 NGS Genetic DNA Test provides the answers you need for informed medical management and peace of mind. With our discounted price of $500 USD and comprehensive genetic counseling support, you can take control of your genetic health today.
Call or WhatsApp us now at +1(267) 388-9828 to schedule your genetic testing appointment or book online through our secure patient portal. Our genetic specialists are ready to guide you through every step of the testing process and help you understand your results with compassion and expertise.
