TYRP1 Gene Albinism Oculocutaneous Type 3 NGS Genetic DNA Test
Comprehensive Genetic Testing for Oculocutaneous Albinism Type 3
The TYRP1 Gene Albinism Oculocutaneous Type 3 NGS Genetic DNA Test represents a breakthrough in genetic diagnostics for inherited pigment disorders. This advanced test specifically targets mutations in the TYRP1 (Tyrosinase-Related Protein 1) gene, which plays a critical role in melanin synthesis and distribution throughout the body. Oculocutaneous Albinism Type 3 (OCA3) is a rare autosomal recessive condition that affects pigmentation in multiple body systems, requiring precise genetic identification for accurate diagnosis and management.
What This Test Measures and Detects
Our NGS-based genetic test provides comprehensive analysis of the TYRP1 gene to identify:
- Pathogenic variants and mutations in the TYRP1 gene sequence
- Single nucleotide polymorphisms (SNPs) affecting melanin production
- Deletions, insertions, and copy number variations
- Compound heterozygous mutations in autosomal recessive inheritance patterns
- Novel genetic variants with potential clinical significance
The test utilizes state-of-the-art Next-Generation Sequencing technology that achieves over 99% accuracy in detecting genetic abnormalities associated with OCA3. This comprehensive approach ensures no significant mutations are missed, providing patients and healthcare providers with reliable genetic information for clinical decision-making.
Who Should Consider This Test
This genetic test is recommended for individuals presenting with:
- Reduced skin pigmentation with reddish-brown skin tone
- Light-colored hair ranging from reddish to golden brown
- Visual abnormalities including nystagmus, strabismus, or reduced visual acuity
- Photophobia and increased sensitivity to sunlight
- Family history of albinism or consanguineous parents
- Planning pregnancy with known family history of OCA3
- Unexplained vision problems in childhood with pigmentation abnormalities
Clinical Benefits of Genetic Testing
Undergoing the TYRP1 Gene Albinism Oculocutaneous Type 3 NGS Genetic DNA Test provides numerous clinical advantages:
- Definitive Diagnosis: Confirms OCA3 with genetic evidence, eliminating diagnostic uncertainty
- Personalized Management: Enables tailored ophthalmological care and sun protection strategies
- Genetic Counseling: Provides accurate recurrence risk assessment for family planning
- Early Intervention: Facilitates prompt vision support and developmental assistance
- Differential Diagnosis: Distinguishes OCA3 from other albinism types and pigment disorders
- Research Contribution: Advances understanding of TYRP1 gene variations and their clinical implications
Understanding Your Test Results
Our comprehensive genetic report provides clear interpretation of your results:
- Positive Result: Identifies pathogenic mutations in both TYRP1 gene copies, confirming OCA3 diagnosis
- Carrier Status: Detects a single mutation, indicating carrier status without disease manifestation
- Negative Result: No pathogenic variants found, significantly reducing OCA3 likelihood
- Variant of Uncertain Significance: Identifies genetic changes requiring further clinical correlation
All results include detailed explanations and recommendations for follow-up care with ophthalmologists and genetic specialists. Our genetic counselors are available to help you understand your results and their implications for your health and family planning.
Test Pricing and Details
| Test Feature | Details |
|---|---|
| Test Name | TYRP1 Gene Albinism Oculocutaneous Type 3 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 |
Nationwide Accessibility
We have diagnostic centers conveniently located across the United States, serving 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 genetic testing facilities ensures you receive the same high-quality service regardless of location.
Take the Next Step Toward Genetic Clarity
Don’t let uncertainty about Oculocutaneous Albinism Type 3 affect your quality of life. Our TYRP1 genetic test provides the answers you need for informed healthcare decisions. With our limited-time discount pricing of $500 (regularly $700), now is the perfect opportunity to gain genetic clarity.
Call us today at +1(267) 388-9828 to schedule your genetic counseling session and book your test. Our genetic specialists are ready to guide you through the testing process and help you understand how genetic information can transform your healthcare journey.
Remember to bring your clinical history and be prepared for a genetic counseling session to create a detailed family pedigree chart. This comprehensive approach ensures the most accurate interpretation of your genetic results and provides valuable context for understanding your inherited risk factors.
