SLC45A2 Gene Albinism Oculocutaneous Type 4 NGS Genetic DNA Test
Comprehensive Genetic Testing for Albinism Type 4
The SLC45A2 Gene Albinism Oculocutaneous Type 4 NGS Genetic DNA Test represents a breakthrough in genetic diagnostics for individuals affected by oculocutaneous albinism. This sophisticated test employs next-generation sequencing technology to analyze the SLC45A2 gene, which plays a crucial role in melanin production and distribution throughout the body. Understanding your genetic makeup through this test provides invaluable insights for managing this inherited condition effectively.
What This Advanced Test Detects
Our comprehensive genetic analysis specifically targets mutations in the SLC45A2 gene located on chromosome 5p13.2. This gene encodes the membrane-associated transporter protein that facilitates melanin synthesis within melanosomes. The test identifies:
- Point mutations affecting protein function
- Deletions and insertions disrupting gene structure
- Missense mutations altering amino acid sequences
- Nonsense mutations creating premature stop codons
- Splice site variants affecting RNA processing
Who Should Consider This Genetic Test
This specialized genetic test is recommended for individuals presenting with symptoms suggestive of oculocutaneous albinism type 4, including:
- Significantly reduced skin pigmentation with increased sun sensitivity
- Light-colored hair ranging from white to light brown
- Visual impairments including reduced visual acuity
- Nystagmus (involuntary eye movements)
- Photophobia (light sensitivity)
- Strabismus (misaligned eyes)
- Family history of albinism or related conditions
- Unexplained vision problems in childhood
Clinical Importance and Benefits
Undergoing the SLC45A2 genetic test provides numerous advantages for patients and healthcare providers:
- Accurate Diagnosis: Confirms oculocutaneous albinism type 4 with precision
- Genetic Counseling: Enables informed family planning decisions
- Personalized Management: Guides appropriate sun protection strategies
- Vision Care Planning: Facilitates early intervention for visual complications
- Carrier Detection: Identifies asymptomatic family members at risk
- Research Contribution: Advances understanding of genetic albinism
Understanding Your Test Results
Our genetic specialists provide comprehensive interpretation of your test results:
- Positive Result: Confirms SLC45A2 gene mutation and diagnosis of oculocutaneous albinism type 4
- Negative Result: Suggests alternative causes for symptoms, requiring further investigation
- Variant of Uncertain Significance: Identifies genetic changes requiring additional clinical correlation
- Carrier Status: Indicates inheritance of one mutated gene copy without disease manifestation
Test Specifications and Pricing
| Test Component | Details |
|---|---|
| Test Name | SLC45A2 Gene Albinism Oculocutaneous Type 4 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 and Support
We maintain comprehensive testing facilities across the United States, with specialized centers in major metropolitan areas including New York, Los Angeles, Chicago, Houston, Phoenix, and Philadelphia. Our network ensures convenient access to advanced genetic testing services regardless of your location.
Pre-Test Preparation Requirements
To ensure optimal testing outcomes, we recommend:
- Complete clinical history documentation
- Genetic counseling session with certified specialists
- Development of detailed family pedigree chart
- Discussion of potential implications and outcomes
- Informed consent process completion
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 and confidence you need for effective health management. With our discounted price of $500 USD and comprehensive support services, advanced genetic testing has never been more accessible.
Ready to begin your genetic health journey? Contact our genetic specialists today at +1(267) 388-9828 or schedule your consultation through our online booking system. Take the first step toward understanding your genetic makeup and optimizing your healthcare strategy.
