GJA8 Gene Cataract-Microcornea Syndrome NGS Genetic DNA Test
Comprehensive Genetic Testing for Inherited Eye Disorders
The GJA8 Gene Cataract-Microcornea Syndrome NGS Genetic DNA Test represents a breakthrough in ophthalmic genetic diagnostics, offering precise detection of mutations in the GJA8 gene that cause congenital cataracts and microcornea syndrome. This advanced genetic analysis provides crucial information for individuals and families affected by inherited eye conditions, enabling better understanding, management, and treatment planning.
What This Test Measures and Detects
This sophisticated genetic test specifically targets the GJA8 gene, which encodes connexin 50 – a crucial protein component of gap junctions in the lens of the eye. The test utilizes Next Generation Sequencing (NGS) technology to comprehensively analyze the entire GJA8 gene sequence, identifying:
- Point mutations and single nucleotide variants
- Insertions and deletions in the genetic code
- Missense, nonsense, and frameshift mutations
- Splice site variants affecting protein function
- Pathogenic variants associated with cataract-microcornea syndrome
Who Should Consider This Genetic Test
This test is particularly recommended for individuals presenting with:
- Congenital cataracts diagnosed in infancy or early childhood
- Microcornea (abnormally small cornea diameter)
- Family history of inherited eye disorders
- Multiple family members with congenital cataracts
- Unexplained visual impairment in childhood
- Planning for family with history of ocular genetic conditions
- Diagnostic uncertainty in pediatric ophthalmology cases
Clinical Benefits of Genetic Testing
Undergoing the GJA8 Gene Cataract-Microcornea Syndrome test provides numerous advantages:
- Accurate Diagnosis: Confirms genetic basis of ocular symptoms
- Family Planning Guidance: Informs reproductive decisions and risk assessment
- Early Intervention: Enables timely treatment and management strategies
- Genetic Counseling: Provides basis for comprehensive family genetic counseling
- Treatment Planning: Guides appropriate surgical and medical interventions
- Prognostic Information: Helps predict disease progression and outcomes
Understanding Your Test Results
Your genetic test results will be carefully interpreted by our expert geneticists and ophthalmologists:
- Positive Result: Indicates presence of pathogenic GJA8 gene mutation confirming diagnosis
- Negative Result: Suggests absence of detectable mutations in the GJA8 gene
- Variant of Uncertain Significance: Requires further clinical correlation and family studies
- Carrier Status: Important for family members and reproductive planning
All results include detailed interpretation and recommendations for next steps, including referral to appropriate specialists and genetic counseling services.
Test Pricing and Details
| Test Component | Details |
|---|---|
| Test Name | GJA8 Gene Cataract-Microcornea Syndrome 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 |
| Specialty | Ophthalmology Genetics |
| 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 scheduled
- Family pedigree chart documenting affected relatives
- Ophthalmology examination records
- Informed consent for genetic testing
Nationwide Testing Availability
We have convenient testing locations across the United States, including major metropolitan areas such as New York, Los Angeles, Chicago, Houston, Phoenix, Philadelphia, San Antonio, San Diego, Dallas, and San Jose. Our state-of-the-art laboratories ensure consistent, high-quality results regardless of your location.
Take the Next Step Toward Genetic Clarity
Don’t let uncertainty about inherited eye conditions affect your family’s future. Our expert team of genetic counselors and ophthalmologists are ready to help you understand your genetic risks and make informed healthcare decisions.
Call or WhatsApp us today at +1(267) 388-9828 to schedule your genetic counseling session and book your GJA8 Gene Cataract-Microcornea Syndrome NGS Genetic DNA Test. Take control of your genetic health with confidence and precision.
