Nx Gen Sequencing Albinism Test
Comprehensive Genetic Analysis for Albinism Diagnosis
The Nx Gen Sequencing Albinism Test represents a breakthrough in genetic diagnostics, offering comprehensive analysis of 28+ genes associated with various forms of albinism. This advanced testing methodology utilizes cutting-edge next-generation sequencing (NGS) technology to provide unparalleled accuracy in detecting genetic mutations responsible for oculocutaneous albinism (OCA) and ocular albinism (OA).
Albinism is a group of inherited disorders characterized by reduced or absent melanin pigment in the skin, hair, and eyes. Our comprehensive test panel covers all major genes known to cause different types of albinism, providing patients and healthcare providers with definitive diagnostic information crucial for proper management and treatment planning.
What the Test Measures and Detects
The Nx Gen Sequencing Albinism Test analyzes mutations in the following key genes:
- TYR, TYRP1, OCA2 – Primary genes for oculocutaneous albinism types 1-3
- GPR143 – Associated with X-linked ocular albinism
- HPS1-HPS6, AP3B1, BLOC1S3, BLOC1S6 – Hermansky-Pudlak syndrome genes
- C10ORF11, SLC24A5, SLC45A2 – Additional pigmentation-related genes
- MITF, PAX3, SOX10 – Genes involved in Waardenburg syndrome
- KIT, MC1R, MLPH, MYO5A, RAB27A – Melanocyte development and function genes
This comprehensive panel detects single nucleotide variants, small insertions/deletions, and copy number variations across all targeted genes, providing a complete genetic profile for albinism diagnosis.
Who Should Consider This Test
Clinical Indications and Symptoms
This test is recommended for individuals presenting with:
- Reduced skin, hair, or eye pigmentation from birth
- Vision problems including nystagmus, strabismus, or photophobia
- Family history of albinism or related genetic conditions
- Unexplained visual impairment in childhood
- Suspected Hermansky-Pudlak syndrome with bleeding tendencies
- Diagnostic uncertainty between different types of albinism
- Planning for genetic counseling and family planning decisions
Benefits of Taking the Nx Gen Sequencing Albinism Test
Choosing our comprehensive albinism test provides numerous advantages:
- Definitive Diagnosis: Obtain clear genetic confirmation of albinism type
- Personalized Management: Tailor treatment and monitoring based on specific genetic findings
- Genetic Counseling: Provide accurate recurrence risk information for family planning
- Early Intervention: Enable timely implementation of vision support and sun protection measures
- Comprehensive Coverage: Single test covering all major albinism-associated genes
- Advanced Technology: Utilizes state-of-the-art NGS with Sanger sequencing confirmation
Understanding Your Test Results
Interpretation Guidance
Your test results will be categorized as follows:
- Positive Result: Identifies pathogenic mutations confirming albinism diagnosis and specifying the genetic type
- Negative Result: No mutations detected in the analyzed genes, though rare mutations outside tested regions may exist
- Variant of Uncertain Significance (VUS): Genetic changes with unclear clinical impact requiring further evaluation
- Carrier Status: Identification of individuals carrying one copy of a mutated gene
All positive results and variants of uncertain significance are confirmed by Sanger sequencing to ensure accuracy. Our genetic counselors are available to help interpret results and discuss implications for you and your family.
Test Details and Pricing
| Test Component | Details |
|---|---|
| Test Name | Nx Gen Sequencing Albinism Test |
| Discount Price | $716 USD |
| Regular Price | $796 USD |
| Turnaround Time | Sample Daily by 9 am; Report 45 Working Days |
| Sample Type | 10 mL (5 mL min.) whole blood from 2 Lavender Top (EDTA) tubes. Ship refrigerated. DO NOT FREEZE. |
| Required Forms | Duly filled Whole Exome Sequencing Consent Form (Form 37) is mandatory |
Nationwide Availability and Booking
We have testing facilities conveniently located across the United States, including major metropolitan areas such as New York, Los Angeles, Chicago, Houston, Phoenix, Philadelphia, San Antonio, San Diego, Dallas, San Jose, and many other cities. Our network ensures accessible genetic testing services for patients nationwide.
To schedule your Nx Gen Sequencing Albinism Test or to speak with our genetic counseling team, please contact us at +1(267) 388-9828 or book your appointment online through our secure patient portal.
Why Choose Our Genetic Testing Services?
- Board-certified genetic counselors available for result interpretation
- CLIA-certified laboratory ensuring highest quality standards
- Comprehensive genetic analysis covering all major albinism genes
- Expert collaboration with ophthalmologists and dermatologists
- Secure and confidential handling of genetic information
- Insurance pre-authorization assistance available
Take the first step toward definitive diagnosis and personalized care. Book your Nx Gen Sequencing Albinism Test today and gain clarity about your genetic health.
