TYR Gene Albinism Oculocutaneous Type 1B NGS Genetic DNA Test
Comprehensive Genetic Analysis for Albinism Diagnosis
The TYR Gene Albinism Oculocutaneous Type 1B NGS Genetic DNA Test represents a breakthrough in genetic diagnostics for individuals affected by albinism. This advanced testing methodology employs next-generation sequencing (NGS) technology to precisely identify mutations in the TYR (tyrosinase) gene, which plays a critical role in melanin production. Melanin is the pigment responsible for coloration in skin, hair, and eyes, and deficiencies in its production lead to the characteristic features of oculocutaneous albinism type 1B.
What This Test Measures and Detects
This sophisticated genetic test specifically targets and analyzes the TYR gene located on chromosome 11q14.3. The test detects:
- Point mutations, deletions, and insertions in the TYR gene
- Genetic variations affecting tyrosinase enzyme function
- Mutations responsible for impaired melanin synthesis
- Both homozygous and compound heterozygous mutations
- Novel genetic variants with potential clinical significance
Who Should Consider This Genetic Test
This test is recommended for individuals presenting with symptoms suggestive of oculocutaneous albinism type 1B, including:
- Significant reduction in skin, hair, and eye pigmentation
- Visual impairments including nystagmus, strabismus, or photophobia
- Family history of albinism or consanguineous parents
- Children with developmental delays associated with vision problems
- Individuals with unexplained hypopigmentation disorders
- Couples planning pregnancy with family history of albinism
Clinical Benefits of Genetic Testing
Undergoing the TYR Gene Albinism Oculocutaneous Type 1B NGS Genetic DNA Test provides numerous clinical advantages:
- Accurate Diagnosis: Confirms or rules out oculocutaneous albinism type 1B with high precision
- Personalized Management: Enables tailored treatment plans based on specific genetic findings
- Genetic Counseling: Provides essential information for family planning and recurrence risk assessment
- Early Intervention: Facilitates timely implementation of vision support and sun protection strategies
- Differential Diagnosis: Helps distinguish between different types of albinism and other hypopigmentation disorders
Understanding Your Test Results
Your genetic test results will be carefully interpreted by our team of certified genetic counselors and medical geneticists. Possible outcomes include:
- Positive Result: Identification of pathogenic mutations in the TYR gene confirms diagnosis of oculocutaneous albinism type 1B
- Negative Result: No mutations detected suggests alternative causes for symptoms
- Variant of Uncertain Significance: Genetic changes with unknown clinical impact requiring further evaluation
- Carrier Status: Identification of individuals carrying one copy of mutated gene without symptoms
Test Pricing and Details
| Test Component | Details |
|---|---|
| Test Name | TYR Gene Albinism Oculocutaneous Type 1B NGS Genetic DNA Test |
| Regular Price | $700 USD |
| Discount Price | $500 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 Requirements
Before undergoing testing, patients should provide:
- Complete clinical history relevant to albinism symptoms
- Participation in genetic counseling session
- Detailed pedigree chart of family members affected by albinism
- Current medical records and previous test results
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, and Philadelphia. Our state-of-the-art genetic testing facilities ensure consistent, high-quality results regardless of your location.
Take the Next Step Toward Genetic Clarity
Don’t let uncertainty about genetic conditions affect your quality of life. Our comprehensive TYR Gene Albinism Oculocutaneous Type 1B NGS Genetic DNA Test provides the answers you need for informed medical decisions and personalized care planning.
Call us today at +1(267) 388-9828 to schedule your genetic test or speak with our genetic counseling team. Take control of your genetic health with advanced diagnostic testing from America’s leading genetics laboratory.
