SLC45A2 Gene Albinism Oculocutaneous Type 4 NGS Genetic DNA Test
Comprehensive Genetic Analysis for Albinism Type 4
The SLC45A2 Gene Albinism Oculocutaneous Type 4 NGS Genetic DNA Test represents a breakthrough in genetic diagnostics for inherited pigment disorders. This advanced test specifically targets mutations in the SLC45A2 gene, which plays a critical role in melanin biosynthesis and distribution throughout the body. Oculocutaneous albinism type 4 is an autosomal recessive condition characterized by reduced pigmentation in the skin, hair, and eyes, along with associated visual impairments.
What This Test Measures and Detects
Our state-of-the-art NGS (Next-Generation Sequencing) technology comprehensively analyzes the entire SLC45A2 gene to identify:
- Pathogenic variants and mutations in the SLC45A2 gene
- Single nucleotide polymorphisms (SNPs) affecting melanin production
- Insertions, deletions, and copy number variations
- Compound heterozygous mutations
- Carrier status for oculocutaneous albinism type 4
Who Should Consider This Genetic Test
This test is particularly recommended for individuals experiencing:
- Significant reduction in skin, hair, and eye pigmentation
- Visual impairments including nystagmus, strabismus, or photophobia
- Family history of albinism or pigment disorders
- Parents planning pregnancy with known family history of albinism
- Individuals with unexplained visual abnormalities and light sensitivity
- Those seeking definitive diagnosis for suspected oculocutaneous albinism
Key Benefits of SLC45A2 Genetic Testing
Undergoing this comprehensive genetic analysis provides numerous advantages:
- Accurate Diagnosis: Confirms or rules out oculocutaneous albinism type 4 with precision
- Family Planning Guidance: Identifies carrier status for informed reproductive decisions
- Personalized Management: Enables tailored ophthalmological care and sun protection strategies
- Genetic Counseling: Provides basis for comprehensive genetic counseling sessions
- Early Intervention: Facilitates timely implementation of visual aids and protective measures
- Peace of Mind: Eliminates diagnostic uncertainty and provides clear genetic understanding
Understanding Your Test Results
Our genetic specialists provide comprehensive interpretation of your results:
- Positive Result: Indicates presence of pathogenic mutations confirming oculocutaneous albinism type 4 diagnosis
- Carrier Status: Identifies individuals with one mutated copy who can pass the condition to offspring
- Negative Result: Suggests absence of known SLC45A2 mutations associated with albinism type 4
- Variant of Unknown Significance: Requires additional family studies and clinical correlation
All results include detailed explanations and recommendations for follow-up care with ophthalmologists and genetic counselors.
Test Pricing Information
| Test Name | Discount Price | Regular Price |
|---|---|---|
| SLC45A2 Gene Albinism Oculocutaneous Type 4 NGS Genetic DNA Test | $500 USD | $700 USD |
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, and San Jose. Our state-of-the-art laboratories ensure consistent, reliable results regardless of your location.
Take Control of Your Genetic Health Today
Don’t let uncertainty about genetic conditions affect your quality of life. Our SLC45A2 Gene Albinism Oculocutaneous Type 4 NGS Genetic DNA Test provides the clarity you need for proper diagnosis and management. With a simple blood sample or DNA extraction, you can gain valuable insights into your genetic makeup and take proactive steps toward better health management.
Ready to schedule your genetic test? Call our dedicated genetic counseling team at +1(267) 388-9828 or book your appointment online today. Our specialists are available to answer your questions and guide you through the testing process with compassion and expertise.
