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 and families affected by albinism. This sophisticated test utilizes next-generation sequencing technology to analyze the TYR (tyrosinase) gene, which plays a critical role in melanin production. Oculocutaneous albinism type 1A is the most severe form of albinism, characterized by complete absence of melanin pigment in the skin, hair, and eyes. Early and accurate genetic diagnosis through this test enables proper medical management, reduces diagnostic uncertainty, and provides essential information for family planning decisions.
What This Test Measures and Detects
Our advanced NGS genetic test specifically targets and sequences the entire TYR gene to identify pathogenic mutations responsible for oculocutaneous albinism type 1A. The test detects:
- Point mutations, deletions, and insertions in the TYR gene
- Missense, nonsense, and frameshift mutations affecting tyrosinase function
- Compound heterozygous mutations in affected individuals
- Carrier status in asymptomatic family members
- Novel genetic variants with potential clinical significance
The TYR gene encodes the enzyme tyrosinase, which is essential for the first steps of melanin synthesis. Mutations in this gene disrupt melanin production, leading to the characteristic features of albinism including hypopigmentation, visual impairment, and increased skin cancer risk.
Who Should Consider This Genetic Test
This comprehensive genetic test is recommended for individuals exhibiting symptoms or having risk factors for oculocutaneous albinism type 1A:
- Individuals with complete absence of skin, hair, and eye pigmentation
- Patients experiencing significant visual impairment including nystagmus, strabismus, or photophobia
- Those with family history of albinism or consanguineous parents
- Couples planning pregnancy with known albinism in family medical history
- Individuals with unexplained hypopigmentation disorders
- Patients requiring definitive diagnosis for proper medical management
- Family members of diagnosed individuals seeking carrier status information
Significant Benefits of Genetic Testing
Undergoing the TYR Gene Albinism Oculocutaneous Type 1A NGS Genetic DNA Test provides numerous advantages for patients and their families:
- Accurate Diagnosis: Provides definitive genetic confirmation of oculocutaneous albinism type 1A, eliminating diagnostic uncertainty
- Personalized Medical Care: Enables tailored management strategies for vision care, skin protection, and sun safety
- Genetic Counseling: Provides essential information for family planning and reproductive decision-making
- Early Intervention: Facilitates timely implementation of protective measures and supportive therapies
- Carrier Detection: Identifies asymptomatic carriers within families for comprehensive genetic risk assessment
- Research Contribution: Helps advance scientific understanding of albinism genetics and potential treatments
Understanding Your Test Results
Our genetic specialists provide comprehensive interpretation of your TYR gene test results with clear guidance:
- Positive Result: Identification of two pathogenic mutations confirms diagnosis of oculocutaneous albinism type 1A, requiring specialized medical follow-up
- Carrier Status: Detection of one pathogenic mutation indicates carrier status with important implications for family planning
- Negative Result: No pathogenic mutations detected suggests alternative causes for symptoms should be investigated
- Variant of Uncertain Significance: Some genetic changes may require additional family studies for proper interpretation
All positive results include detailed genetic counseling to help you understand the implications and next steps for medical management and family planning.
Test Pricing and Details
| Test Feature | Details |
|---|---|
| Test Name | TYR Gene Albinism Oculocutaneous Type 1A 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 |
| Testing Method | Next-Generation Sequencing (NGS) Technology |
| Specialty | Dermatology, Genetics |
Nationwide Testing Availability
We have conveniently located testing centers across the United States, including major metropolitan areas such as New York, Los Angeles, Chicago, Houston, Phoenix, Philadelphia, San Antonio, San Diego, Dallas, San Jose, and many other cities. Our state-of-the-art facilities ensure consistent, high-quality testing standards nationwide, with experienced genetic counselors available at each location to support you throughout the testing process.
Take the Next Step Toward Genetic Clarity
Don’t let uncertainty about albinism genetics impact your health decisions or family planning. Our comprehensive TYR Gene Albinism Oculocutaneous Type 1A NGS Genetic DNA Test provides the definitive answers you need for informed medical management and genetic counseling. With our current discount pricing at $500 USD (regularly $700 USD), now is the perfect time to gain valuable genetic insights.
Call or WhatsApp us today at +1(267) 388-9828 to schedule your genetic test consultation and take control of your genetic health journey.
