TYR Gene Albinism Oculocutaneous Type 1A NGS Genetic DNA Test
Comprehensive Genetic Testing for Albinism Diagnosis
The TYR Gene Albinism Oculocutaneous Type 1A NGS Genetic DNA Test represents a breakthrough in genetic diagnostics for individuals affected by albinism. This advanced testing methodology provides crucial insights into the genetic basis of oculocutaneous albinism type 1A, enabling accurate diagnosis and personalized treatment approaches.
What This Test Measures and Detects
This sophisticated genetic test specifically targets the TYR (tyrosinase) gene, which plays a critical role in melanin production. The test utilizes next-generation sequencing (NGS) technology to identify:
- Pathogenic mutations in the TYR gene associated with oculocutaneous albinism type 1A
- Single nucleotide variants and small insertions/deletions affecting gene function
- Genetic variations that impair melanin synthesis and distribution
- Inheritance patterns for family genetic counseling
Who Should Consider This Test
This genetic test is recommended for individuals presenting with the following symptoms or clinical indications:
- Significant reduction in skin, hair, and eye pigmentation from birth
- Visual impairment including nystagmus, strabismus, or reduced visual acuity
- Photophobia and sensitivity to bright light
- Family history of albinism or related genetic conditions
- Unexplained vision problems in childhood
- Diagnostic confirmation for suspected albinism cases
Key Benefits of Genetic Testing
Undergoing the TYR Gene Albinism Oculocutaneous Type 1A NGS Genetic DNA Test provides numerous advantages:
- Accurate Diagnosis: Precise identification of genetic mutations causing albinism
- Personalized Treatment: Tailored management strategies based on genetic findings
- Genetic Counseling: Essential information for family planning and inheritance risks
- Early Intervention: Opportunity for timely vision care and sun protection measures
- Comprehensive Analysis: Advanced NGS technology ensures thorough genetic evaluation
Understanding Your Test Results
Your genetic test results will provide clear guidance on:
- Positive Result: Confirmation of TYR gene mutations associated with oculocutaneous albinism type 1A
- Negative Result: Absence of detectable mutations in the TYR gene analyzed
- Variant of Uncertain Significance: Genetic changes requiring further clinical correlation
- Carrier Status: Information about inheritance patterns for family members
All results are accompanied by comprehensive interpretation from our genetic specialists and recommendations for appropriate follow-up care.
Test Pricing Information
| Test Description | Price (USD) |
|---|---|
| TYR Gene Albinism Oculocutaneous Type 1A NGS Genetic DNA Test – Discount Price | $500 |
| TYR Gene Albinism Oculocutaneous Type 1A NGS Genetic DNA Test – Regular Price | $700 |
Test Specifications
- Turnaround Time: 3 to 4 Weeks
- Sample Type: Blood, Extracted DNA, or One Drop Blood on FTA Card
- Testing Method: Next-Generation Sequencing (NGS) Technology
- Specialty: Ophthalmology and Genetics
Pre-Test Requirements
Before scheduling your test, please ensure:
- Complete clinical history documentation
- Genetic counseling session to create family pedigree chart
- Understanding of test implications and potential outcomes
- Appropriate sample collection preparation
Nationwide Testing Availability
We proudly serve patients across the United States with convenient testing locations 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 testing facilities ensures accessibility and convenience for patients nationwide.
Take the Next Step Toward Genetic Clarity
Don’t let uncertainty about albinism diagnosis affect your quality of life. Our comprehensive TYR Gene Albinism Oculocutaneous Type 1A NGS Genetic DNA Test provides the answers you need for informed healthcare decisions. With advanced NGS technology and expert genetic analysis, you can gain valuable insights into your genetic makeup and receive personalized guidance for optimal care.
Ready to schedule your genetic test? Contact us today at +1(267) 388-9828 or book your appointment online. Our genetic specialists are available to answer your questions and guide you through the testing process.
