C10ORF11 Gene Albinism Oculocutaneous Type 5 NGS Genetic DNA Test
Comprehensive Genetic Analysis for Ocular Albinism
The C10ORF11 Gene Albinism Oculocutaneous Type 5 NGS Genetic DNA Test represents a breakthrough in genetic diagnostics for inherited eye disorders. This advanced testing methodology specifically targets mutations in the C10ORF11 gene, which plays a crucial role in melanin production and ocular development. Oculocutaneous albinism type 5 is a rare genetic condition characterized by reduced pigmentation in the eyes, skin, and hair, along with significant visual impairments that can impact daily life.
What This Test Measures and Detects
Our comprehensive NGS-based genetic test meticulously analyzes the entire C10ORF11 gene sequence to identify:
- Point mutations and single nucleotide variants
- Insertions and deletions affecting gene function
- Copy number variations and structural abnormalities
- Pathogenic variants associated with oculocutaneous albinism type 5
- Carrier status for inherited conditions
Who Should Consider This Genetic Test
This test is particularly recommended for individuals experiencing:
- Significant visual impairment from birth or early childhood
- Extreme sensitivity to light (photophobia)
- Nystagmus (involuntary eye movements)
- Reduced visual acuity that cannot be corrected with glasses
- Family history of albinism or related eye conditions
- Unexplained reduced pigmentation in eyes, skin, or hair
- Individuals planning pregnancy with family history of albinism
Key Benefits of Genetic Testing
Undergoing the C10ORF11 genetic test provides numerous advantages:
- Accurate Diagnosis: Confirms or rules out oculocutaneous albinism type 5 with high precision
- Personalized Management: Enables tailored treatment and vision rehabilitation strategies
- Family Planning Guidance: Provides crucial information for genetic counseling and reproductive decisions
- Early Intervention: Facilitates timely implementation of visual aids and support services
- Carrier Detection: Identifies individuals who may pass the condition to future generations
- Peace of Mind: Reduces uncertainty and provides clear answers about genetic status
Understanding Your Test Results
Our comprehensive genetic report provides clear, actionable information:
- Positive Result: Indicates the presence of pathogenic mutations in the C10ORF11 gene, confirming oculocutaneous albinism type 5 diagnosis
- Negative Result: Suggests no detectable mutations in the C10ORF11 gene, though other genetic causes should be considered
- Variant of Uncertain Significance: Identifies genetic changes whose clinical significance requires further investigation
- Carrier Status: Determines if you carry one copy of a mutated gene that could be passed to children
All results include detailed interpretation and recommendations for follow-up care with ophthalmologists and genetic counselors.
Test Pricing Information
| Test Description | Price (USD) |
|---|---|
| C10ORF11 Gene Albinism Oculocutaneous Type 5 NGS Genetic DNA Test – Discount Price | $500 |
| C10ORF11 Gene Albinism Oculocutaneous Type 5 NGS Genetic DNA Test – 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 state-of-the-art genetic testing facilities ensure consistent, reliable results regardless of your location.
Take Control of Your Genetic Health Today
Don’t let uncertainty about genetic conditions affect your quality of life. Our C10ORF11 Gene Albinism Oculocutaneous Type 5 NGS Genetic DNA Test provides the clarity you need for informed healthcare decisions. With results available in just 3-4 weeks and multiple sample collection options including blood, extracted DNA, or blood spots on FTA cards, getting tested has never been more convenient.
Ready to begin your genetic testing journey? Contact our genetic specialists today at +1(267) 388-9828 or book your appointment online. Take the first step toward understanding your genetic health and securing your family’s future.
