RAB27A Gene Griscelli Syndrome Type 2 NGS Genetic DNA Test
Comprehensive Genetic Testing for Neurological Disorders
The RAB27A Gene Griscelli Syndrome Type 2 NGS Genetic DNA Test represents a cutting-edge diagnostic approach for identifying mutations associated with Griscelli syndrome type 2, a rare autosomal recessive disorder that affects multiple body systems. This comprehensive genetic analysis utilizes next-generation sequencing technology to provide precise detection of pathogenic variants in the RAB27A gene, offering crucial insights for accurate diagnosis and personalized treatment planning.
What Does This Test Measure and Detect?
This advanced genetic test specifically targets the RAB27A gene, which plays a critical role in intracellular vesicle transport and melanosome function. The test detects:
- Pathogenic mutations in the RAB27A gene responsible for Griscelli syndrome type 2
- Single nucleotide variants (SNVs) and small insertions/deletions
- Copy number variations affecting the RAB27A gene region
- Genetic variants that disrupt melanosome transport and immune cell function
Who Should Consider This Genetic Test?
This test is recommended for individuals presenting with the following symptoms or risk factors:
- Silver-gray hair coloration and partial albinism
- Neurological symptoms including developmental delay or regression
- Recurrent infections due to immune system dysfunction
- Family history of Griscelli syndrome or consanguineous parents
- Hemophagocytic lymphohistiocytosis (HLH) symptoms
- Unexplained neurological deterioration in childhood
- Abnormal pigmentation patterns with neurological involvement
Key Benefits of RAB27A Genetic Testing
Undergoing this comprehensive genetic analysis provides numerous advantages:
- Accurate Diagnosis: Confirms or rules out Griscelli syndrome type 2 with high precision
- Early Intervention: Enables timely treatment planning for neurological and immune complications
- Family Planning: Provides crucial information for genetic counseling and reproductive decisions
- Personalized Care: Guides targeted therapeutic approaches based on specific genetic findings
- Prognostic Information: Helps predict disease progression and potential complications
- Research Contribution: Advances understanding of rare genetic neurological disorders
Understanding Your Test Results
Your genetic test results will be carefully interpreted by our expert geneticists and neurologists:
- Positive Result: Indicates the presence of pathogenic mutations in the RAB27A gene, confirming Griscelli syndrome type 2 diagnosis
- Negative Result: Suggests absence of known pathogenic variants, though does not completely rule out the condition
- Variant of Uncertain Significance (VUS): Identifies genetic changes with unknown clinical impact requiring further evaluation
- Carrier Status: Determines if you carry one copy of a mutated gene, important for family planning
All results include comprehensive genetic counseling to ensure proper understanding and next steps.
Test Pricing and Details
| Test Component | Details |
|---|---|
| Test Name | RAB27A Gene Griscelli Syndrome Type 2 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 |
Pre-Test Requirements
Before scheduling your test, please ensure:
- Complete clinical history documentation of the patient
- Genetic counseling session to create a detailed family pedigree chart
- Discussion of testing implications with our genetic specialists
- Understanding of potential outcomes and their significance
Nationwide Testing Availability
We proudly offer comprehensive genetic testing services across the United States with convenient locations in all major cities 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.
Take the Next Step Toward Genetic Clarity
Don’t let uncertainty about genetic neurological conditions affect your health decisions. Our expert team of neurologists and genetic specialists is ready to provide the comprehensive testing and counseling you need. Schedule your RAB27A Gene Griscelli Syndrome Type 2 NGS Genetic DNA Test today and gain the clarity necessary for informed healthcare decisions.
Call or WhatsApp us now at +1(267) 388-9828 to book your test or schedule a genetic counseling consultation. Our dedicated team is available to answer your questions and guide you through the testing process with compassion and expertise.
