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 or at risk for oculocutaneous albinism type 6. This specialized test focuses on the SLC24A5 gene, which plays a critical role in melanin production and distribution throughout the body. Melanin is the pigment responsible for coloring our skin, hair, and eyes, and mutations in the SLC24A5 gene can lead to significant reductions in melanin production, resulting in the characteristic features of albinism.
Our advanced Next-Generation Sequencing (NGS) technology enables comprehensive analysis of the entire SLC24A5 gene, detecting even the most subtle genetic variations that might be missed by conventional testing methods. This test is particularly important because early and accurate diagnosis of albinism can significantly improve quality of life through appropriate management strategies and preventive measures.
What Does the SLC24A5 Gene Test Measure?
This sophisticated genetic test specifically targets and analyzes the SLC24A5 gene to identify pathogenic variants associated with oculocutaneous albinism type 6. The test examines:
- Complete sequencing of the SLC24A5 gene coding regions
- Detection of point mutations, insertions, and deletions
- Identification of single nucleotide polymorphisms (SNPs)
- Analysis of gene copy number variations
- Assessment of splice site mutations affecting gene function
The SLC24A5 gene encodes a protein called NCKX5, which is essential for proper melanosome function and melanin synthesis. Mutations in this gene disrupt the normal production and distribution of melanin, leading to the characteristic hypopigmentation seen in albinism.
Who Should Consider This Genetic Test?
Clinical Indications and Symptoms
This test is recommended for individuals presenting with one or more of the following symptoms or risk factors:
- Extremely light skin complexion with reduced tanning ability
- Very light blonde or white hair from birth
- Light-colored eyes (blue, gray, or green) with reduced pigmentation
- Vision problems including reduced visual acuity
- Nystagmus (involuntary eye movements)
- Photophobia (sensitivity to light)
- Strabismus (misaligned eyes)
- Family history of albinism or related conditions
- Unexplained vision impairment in childhood
- Suspected albinism based on clinical examination
High-Risk Populations
This test is particularly important for:
- Children with unexplained vision abnormalities
- Individuals with family history of albinism
- Couples planning pregnancy with albinism in family medical history
- Patients undergoing differential diagnosis for hypopigmentation disorders
Benefits of SLC24A5 Genetic Testing
Undergoing the SLC24A5 Gene Albinism Test provides numerous advantages for patients and healthcare providers:
- Accurate Diagnosis: Provides definitive confirmation of oculocutaneous albinism type 6
- Early Intervention: Enables timely implementation of vision support and sun protection measures
- Personalized Management: Guides development of individualized care plans based on specific genetic findings
- Family Planning: Offers crucial information for genetic counseling and reproductive decisions
- Prognostic Information: Helps predict disease progression and potential complications
- Differential Diagnosis: Distinguishes between different types of albinism and other hypopigmentation disorders
- Research Contribution: Contributes to ongoing scientific understanding of albinism genetics
Understanding Your Test Results
Interpretation Guidelines
Your genetic test results will fall into one of several categories, each with specific implications:
- Positive Result: Identification of known pathogenic variants in the SLC24A5 gene confirms the diagnosis of oculocutaneous albinism type 6. This result provides definitive evidence for the condition and guides appropriate management strategies.
- Negative Result: No pathogenic variants detected in the SLC24A5 gene. This may indicate that albinism symptoms are due to mutations in other genes or suggest a different diagnosis altogether.
- Variant of Uncertain Significance (VUS): Detection of genetic changes whose clinical significance is currently unknown. These results require careful interpretation by genetic specialists and may warrant additional family studies.
- Carrier Status: Identification of a single mutated copy of the SLC24A5 gene in asymptomatic individuals, indicating carrier status for autosomal recessive albinism.
Clinical Implications
Positive results typically lead to recommendations for:
- Comprehensive ophthalmological evaluation and regular monitoring
- Sun protection strategies including sunscreen and protective clothing
- Vision aids and low vision rehabilitation services
- Genetic counseling for family members
- Educational support and accommodations
Test Details and Pricing
| Test Component | Details |
|---|---|
| Test Name | SLC24A5 Gene Albinism Oculocutaneous Nonsyndromic NGS Genetic DNA Test |
| Discount Price | $500 USD |
| Regular Price | $700 USD |
| Turnaround Time | 3 to 4 Weeks |
| Sample Type | Blood or Extracted DNA or One drop Blood on FTA Card |
| Testing Method | Next-Generation Sequencing (NGS) Technology |
| Specialty | Ophthalmology and Genetics |
Pre-Test Requirements
To ensure accurate results and proper interpretation, the following pre-test preparations are required:
- Complete clinical history of the patient undergoing testing
- Genetic counseling session to discuss test implications and potential outcomes
- Development of a detailed pedigree chart documenting family members affected by albinism or related conditions
- Informed consent process explaining the benefits, limitations, and potential implications of genetic testing
Nationwide Availability Across USA
We are proud to offer the SLC24A5 Gene Albinism Test through our extensive network of testing facilities across the United States. Our services are available in all major metropolitan areas including:
- New York City and surrounding regions
- Los Angeles and Southern California
- Chicago and Illinois area
- Houston and Texas locations
- Phoenix and Arizona facilities
- Philadelphia and Pennsylvania centers
- And many more locations nationwide
Our state-of-the-art laboratories maintain the highest standards of quality and accuracy, ensuring reliable results you can trust for critical healthcare decisions.
Take Action Today – Book Your Test
Don’t let uncertainty about albinism diagnosis affect your quality of life. Our specialized genetic testing provides the clarity needed for proper management and treatment planning. With our discounted price of $500 USD (regularly $700), this comprehensive testing is more accessible than ever.
Call us today at +1(267) 388-9828 to schedule your genetic counseling session and arrange for testing. Our genetic specialists are available to answer your questions, discuss the testing process, and help you understand how this test can benefit you or your family member.
Early diagnosis through genetic testing can make a significant difference in managing albinism effectively. Take the first step toward understanding your genetic makeup and securing appropriate care by contacting our team today.
