CACNA1F Gene Aland Island Eye Disease NGS Genetic DNA Test
Comprehensive Genetic Testing for Inherited Eye Disorders
The CACNA1F Gene Aland Island Eye Disease NGS Genetic DNA Test represents a breakthrough in ophthalmological genetic diagnostics, offering precise identification of mutations in the CACNA1F gene responsible for Aland Island eye disease. This rare inherited retinal disorder affects the development and function of retinal photoreceptors, leading to progressive vision impairment and specific ocular abnormalities. Our advanced Next-Generation Sequencing technology provides unparalleled accuracy in detecting genetic variants that traditional testing methods might miss.
What This Test Measures and Detects
This sophisticated genetic test specifically targets the CACNA1F gene, which encodes the alpha-1F subunit of the L-type calcium channel found in retinal photoreceptors. The test identifies:
- Pathogenic variants and mutations in the CACNA1F gene
- Single nucleotide polymorphisms (SNPs) associated with Aland Island eye disease
- Copy number variations affecting gene function
- Novel genetic variants with potential clinical significance
- Inheritance patterns for family genetic counseling
Who Should Consider This Test
This genetic test is recommended for individuals experiencing:
- Progressive vision loss beginning in childhood or early adulthood
- Color vision deficiencies, particularly affecting red-green discrimination
- Nystagmus (involuntary eye movements)
- Family history of inherited retinal diseases
- Unexplained visual impairment with normal retinal appearance
- Children with delayed visual development
- Individuals with suspected incomplete X-linked congenital stationary night blindness
Clinical Benefits of Genetic Testing
Undergoing the CACNA1F Gene Aland Island Eye Disease NGS Genetic DNA Test provides numerous advantages:
- Accurate Diagnosis: Confirms or rules out Aland Island eye disease with high precision
- Early Intervention: Enables timely management strategies to preserve vision
- Family Planning: Provides crucial information for genetic counseling and reproductive decisions
- Personalized Treatment: Guides ophthalmologists in developing targeted treatment plans
- Prognostic Information: Helps predict disease progression and visual outcomes
- Research Contribution: Advances understanding of rare genetic eye disorders
Understanding Your Test Results
Your genetic test results will be carefully interpreted by our team of certified genetic counselors and ophthalmology specialists:
- Positive Result: Indicates the presence of a pathogenic variant in the CACNA1F gene, confirming Aland Island eye disease diagnosis
- Negative Result: Suggests no detectable mutations in the CACNA1F gene, though other genetic causes should be considered
- Variant of Uncertain Significance: Identifies genetic changes whose clinical impact requires further investigation
- Carrier Status: Determines if you carry the gene mutation without showing symptoms
All results include comprehensive genetic counseling to help you understand the implications for your health and family members.
Test Pricing Information
| Price Type | Amount (USD) |
|---|---|
| Discount Price | $500 |
| Regular Price | $700 |
Nationwide Testing Availability
We proudly serve patients across the United States with convenient testing locations in all major metropolitan areas including New York, Los Angeles, Chicago, Houston, Phoenix, Philadelphia, San Antonio, San Diego, Dallas, San Jose, and many more. Our network of certified collection centers ensures accessible genetic testing for patients nationwide.
Schedule Your Genetic Test Today
Take the first step toward understanding your genetic eye health. Our experienced genetic counselors and ophthalmology specialists are ready to guide you through the testing process and provide comprehensive support. Contact us today to schedule your CACNA1F Gene Aland Island Eye Disease NGS Genetic DNA Test and receive the clarity you deserve about your vision health.
Call or WhatsApp: +1(267) 388-9828 to book your appointment or speak with our genetic counseling team.
Note: This test requires clinical history documentation and a pre-test genetic counseling session to create a detailed family pedigree chart. Sample collection options include blood draw, extracted DNA, or one drop of blood on an FTA card. Results are typically available within 3-4 weeks.
