Nx Gen Sequencing Optic Atrophy Test
Comprehensive Genetic Testing for Inherited Vision Loss
The Nx Gen Sequencing Optic Atrophy Test represents a breakthrough in genetic diagnostics for individuals experiencing progressive vision loss due to inherited optic nerve disorders. This advanced molecular test utilizes cutting-edge next-generation sequencing (NGS) technology to analyze 13 critical genes associated with various forms of optic atrophy, providing comprehensive insights into the genetic basis of vision impairment.
What Does This Test Measure?
Our comprehensive genetic panel detects mutations and variants in the following key genes:
- ACO2 – Associated with optic atrophy spectrum disorders
- AFG3L2 – Linked to spinocerebellar ataxia with optic atrophy
- C12ORF65 – Involved in mitochondrial function and optic nerve health
- CISD2 – Wolfram syndrome-related gene
- MFN2 – Charcot-Marie-Tooth disease with optic atrophy
- NR2F1 – Bosch-Boonstra-Schaaf optic atrophy syndrome
- OPA1 – Primary gene for autosomal dominant optic atrophy
- OPA3 – Costeff optic atrophy syndrome
- SLC25A46 – Neurodegenerative disorders with optic atrophy
- SPG7 – Hereditary spastic paraplegia with optic nerve involvement
- TIMM8A – Mohr-Tranebjaerg syndrome
- TMEM126A – Mitochondrial optic atrophy
- WFS1 – Wolfram syndrome type 1
Who Should Consider This Test?
This genetic test is recommended for individuals experiencing:
- Progressive vision loss beginning in childhood or early adulthood
- Central vision impairment with preserved peripheral vision
- Color vision abnormalities, particularly red-green deficiencies
- Family history of inherited optic atrophy or vision disorders
- Unexplained optic nerve pallor or atrophy on examination
- Associated neurological symptoms suggesting syndromic optic atrophy
- Early-onset diabetes with vision problems (suggesting Wolfram syndrome)
Key Benefits of Genetic Testing
- Accurate Diagnosis: Provides definitive genetic confirmation of optic atrophy subtype
- Early Intervention: Enables proactive management strategies before significant vision loss occurs
- Family Planning: Offers genetic counseling opportunities for family members
- Personalized Care: Guides treatment approaches based on specific genetic mutations
- Prognostic Information: Helps predict disease progression and visual outcomes
- Research Contribution: Advances understanding of optic atrophy genetics
Understanding Your Test Results
Your comprehensive genetic report will include detailed analysis of all 13 genes with clear interpretation of findings:
- Positive Result: Identifies specific pathogenic variants that explain your symptoms
- Negative Result: No disease-causing variants detected in the tested genes
- Variant of Uncertain Significance (VUS): Genetic changes with unclear clinical impact requiring further evaluation
- Carrier Status: Information about recessive conditions for family planning
All results are accompanied by detailed clinical correlations and recommendations from our board-certified genetic counselors and ophthalmology specialists.
Test Pricing Information
| Test Component | Price (USD) |
|---|---|
| Nx Gen Sequencing Optic Atrophy Test – Discount Price | $716 |
| Nx Gen Sequencing Optic Atrophy Test – Regular Price | $796 |
Nationwide Testing Availability
We have diagnostic centers conveniently located across the United States, including major metropolitan areas such as New York City, Los Angeles, Chicago, Houston, Phoenix, Philadelphia, San Antonio, San Diego, Dallas, San Jose, and many other cities. Our network ensures accessible genetic testing services for patients throughout the country.
Sample Requirements and Processing
Sample Type: Submit 10 mL (5 mL minimum) whole blood from 2 Lavender Top (EDTA) tubes. Ship refrigerated. DO NOT FREEZE.
Mandatory Requirement: Duly filled Whole Exome Sequencing Consent Form (Form 37) is mandatory for test processing.
Turnaround Time: Samples accepted daily by 9:00 AM with results available within 45 days.
Take Control of Your Vision Health Today
Don’t let unexplained vision loss impact your quality of life. Our comprehensive genetic testing provides the answers you need for proper diagnosis and management of optic atrophy conditions. Early genetic identification can lead to better visual outcomes and improved quality of life.
Call or WhatsApp us today at +1(267) 388-9828 to schedule your Nx Gen Sequencing Optic Atrophy Test and take the first step toward understanding your genetic vision health.
