TYR Gene Albinism Oculocutaneous Type 1B NGS Genetic DNA Test
Comprehensive Genetic Testing for Albinism Diagnosis
The TYR Gene Albinism Oculocutaneous Type 1B NGS Genetic DNA Test represents a cutting-edge approach to diagnosing oculocutaneous albinism type 1B, a genetic condition characterized by reduced melanin production affecting the skin, hair, and eyes. This sophisticated genetic analysis provides definitive answers for individuals and families affected by this inherited disorder, enabling precise diagnosis and informed medical management.
What This Advanced Genetic Test Detects
Our NGS-based genetic test specifically targets mutations in the TYR (tyrosinase) gene, which plays a crucial role in melanin synthesis. The test identifies:
- Point mutations and single nucleotide variants in the TYR gene
- Small insertions and deletions affecting gene function
- Compound heterozygous mutations
- Novel genetic variations associated with albinism
- Inheritance patterns for family planning purposes
Who Should Consider This Genetic Test
This comprehensive genetic analysis is recommended for individuals experiencing:
- Significant reduction in skin, hair, and eye pigmentation
- Visual impairments including nystagmus, strabismus, or photophobia
- Family history of albinism or related genetic conditions
- Unexplained vision problems in childhood
- Diagnostic uncertainty regarding pigmentation disorders
- Planning for pregnancy with family history of albinism
Key Benefits of TYR Gene Testing
Choosing our advanced genetic testing provides numerous advantages:
- Accurate Diagnosis: Confirms oculocutaneous albinism type 1B with precision
- Personalized Care: Enables tailored medical management and vision support
- Family Planning: Provides crucial genetic information for reproductive decisions
- Early Intervention: Facilitates timely implementation of protective measures
- Comprehensive Analysis: Utilizes next-generation sequencing for thorough evaluation
- Expert Interpretation: Results reviewed by certified genetic specialists
Understanding Your Test Results
Our comprehensive genetic report provides clear, actionable information:
- Positive Result: Identifies specific TYR gene mutations confirming diagnosis
- Negative Result: No detected mutations in the TYR gene analyzed
- Variant of Uncertain Significance: Identifies genetic changes requiring further evaluation
- Carrier Status: Determines if you carry one copy of a mutated gene
All results include detailed explanations and recommendations for follow-up care with your healthcare provider.
Test Pricing and Details
| Test Component | Details |
|---|---|
| Test Name | TYR Gene Albinism Oculocutaneous Type 1B 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 |
Pre-Test Preparation Requirements
To ensure optimal testing outcomes, we recommend:
- Complete clinical history documentation for the patient
- Genetic counseling session to create detailed family pedigree
- Discussion of testing implications with healthcare provider
- Understanding of potential results and their significance
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 network of certified collection centers ensures accessible genetic testing services nationwide.
Take the Next Step Toward Genetic Clarity
Don’t let uncertainty about albinism diagnosis affect your quality of life. Our advanced TYR Gene Albinism Oculocutaneous Type 1B NGS Genetic DNA Test provides the definitive answers you need for proper medical management and informed family planning decisions.
Ready to schedule your genetic test? Contact our genetic specialists today at +1(267) 388-9828 or book your appointment online. Take control of your genetic health with comprehensive, reliable testing from trusted professionals.
