SLC24A5 Gene Albinism Oculocutaneous Nonsyndromic NGS Genetic DNA Test
Comprehensive Genetic Testing for Albinism Diagnosis
The SLC24A5 Gene Albinism Oculocutaneous Nonsyndromic NGS Genetic DNA Test represents a breakthrough in genetic diagnostics for individuals affected by oculocutaneous albinism type 6. This advanced testing methodology utilizes Next-Generation Sequencing technology to provide unparalleled accuracy in detecting mutations within the SLC24A5 gene, which plays a crucial role in melanin synthesis and distribution throughout the body.
What Does This Test Measure?
This sophisticated genetic test specifically targets and analyzes the SLC24A5 gene, which encodes a protein essential for proper melanin production in skin, hair, and eyes. The test detects:
- Point mutations and single nucleotide variations
- Insertions and deletions within the gene sequence
- Copy number variations affecting gene function
- Pathogenic variants associated with albinism type 6
Who Should Consider This Test?
This genetic test is recommended for individuals displaying symptoms consistent with oculocutaneous albinism, including:
- Significant reduction in skin, hair, and eye pigmentation
- Visual impairment including nystagmus and strabismus
- Photophobia and light sensitivity
- Family history of albinism or related conditions
- Unexplained vision problems in childhood
- Diagnostic uncertainty regarding pigmentation disorders
Clinical Benefits of Genetic Testing
Undergoing the SLC24A5 genetic test provides numerous advantages for patients and healthcare providers:
- Accurate diagnosis and confirmation of albinism type 6
- Personalized treatment and management strategies
- Comprehensive genetic counseling for family planning
- Early intervention for vision and skin protection
- Clear understanding of inheritance patterns
- Reduced diagnostic uncertainty and misdiagnosis
Understanding Your Test Results
Your genetic test results will be carefully interpreted by our team of certified genetic counselors and medical geneticists. Results typically fall into three categories:
- Positive Result: Confirms the presence of pathogenic mutations in the SLC24A5 gene, establishing a definitive diagnosis of oculocutaneous albinism type 6.
- Negative Result: Indicates no detectable mutations in the SLC24A5 gene, suggesting alternative causes for symptoms that require further investigation.
- Variant of Uncertain Significance: Identifies genetic changes whose clinical significance is currently unknown, requiring ongoing monitoring and potential family studies.
Test Pricing Information
| Test Component | Price (USD) |
|---|---|
| Discount Price | $500 |
| Regular Price | $700 |
Nationwide Testing Availability
We proudly offer comprehensive genetic testing services across the United States with convenient 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 state-of-the-art laboratories ensure consistent, high-quality results regardless of your location.
Schedule Your Genetic Test Today
Take the first step toward accurate diagnosis and personalized care. Our experienced genetic counselors are available to discuss your testing options and answer any questions you may have about the SLC24A5 Gene Albinism Oculocutaneous Nonsyndromic NGS Genetic DNA Test.
Call or WhatsApp us today at +1(267) 388-9828 to schedule your appointment or book your test online. Our team is ready to provide the comprehensive genetic insights you need for better health outcomes.
With a turnaround time of 3-4 weeks and multiple sample collection options including blood, extracted DNA, or one drop of blood on FTA card, we make genetic testing accessible and convenient for patients throughout the United States.
