VPS33B Gene Arthrogryposis Renal Dysfunction and Cholestasis Type 1 NGS Genetic DNA Test
Understanding VPS33B Gene Testing
The VPS33B Gene Arthrogryposis Renal Dysfunction and Cholestasis Type 1 NGS Genetic DNA Test represents a breakthrough in genetic diagnostics for rare inherited disorders. This comprehensive analysis utilizes next-generation sequencing (NGS) technology to examine the VPS33B gene, which plays a critical role in intracellular protein trafficking and organelle function. Mutations in this gene lead to ARC syndrome type 1, a severe multisystem condition affecting multiple organ systems simultaneously.
What Does This Test Measure?
This advanced genetic test specifically targets and sequences the entire VPS33B gene to identify pathogenic variants, including:
- Point mutations and single nucleotide variants
- Small insertions and deletions
- Copy number variations
- Frameshift mutations affecting protein function
- Splice site mutations disrupting gene expression
Who Should Consider VPS33B Genetic Testing?
Clinical Indications and Symptoms
This test is recommended for individuals presenting with the following clinical features:
- Arthrogryposis: Multiple joint contractures present at birth affecting limb mobility
- Renal Dysfunction: Abnormal kidney function, proteinuria, or renal tubular acidosis
- Cholestasis: Impaired bile flow leading to jaundice and liver complications
- Ichthyosis: Severe skin scaling and dryness
- Failure to Thrive: Poor growth and development in infancy
- Family History: Known cases of ARC syndrome in relatives
Benefits of VPS33B Genetic Testing
Undergoing this comprehensive genetic analysis provides numerous advantages:
- Accurate Diagnosis: Confirms or rules out ARC syndrome type 1 with high precision
- Early Intervention: Enables timely management of multisystem complications
- Family Planning: Provides crucial information for genetic counseling and reproductive decisions
- Personalized Care: Guides targeted treatment approaches based on genetic findings
- Prognostic Information: Helps predict disease progression and potential complications
- Research Contribution: Advances understanding of rare genetic disorders
Understanding Your Test Results
Interpretation Guidelines
Your genetic test results will fall into one of several categories:
- Positive Result: Identifies pathogenic mutations in both copies of the VPS33B gene, confirming ARC syndrome type 1 diagnosis
- Carrier Status: Detection of a single mutated copy indicates carrier status without disease manifestation
- Negative Result: No pathogenic variants found, significantly reducing likelihood of ARC syndrome type 1
- Variant of Uncertain Significance: Identifies genetic changes with unknown clinical impact requiring further evaluation
Next Steps After Testing
Following your test results, our genetic counseling team will provide comprehensive guidance on:
- Medical management strategies for affected individuals
- Family member testing recommendations
- Reproductive options and prenatal testing
- Multidisciplinary care coordination with relevant specialists
Test Details and Pricing
| Test Parameter | Details |
|---|---|
| Test Name | VPS33B Gene Arthrogryposis Renal Dysfunction and Cholestasis Type 1 NGS Genetic DNA Test |
| Regular Price | $700 USD |
| Discount Price | $500 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 Testing Availability
We proudly offer comprehensive genetic testing services across the United States with convenient locations in major metropolitan areas including New York, Los Angeles, Chicago, Houston, Phoenix, Philadelphia, San Antonio, San Diego, Dallas, and San Jose. Our state-of-the-art laboratories ensure consistent, high-quality results regardless of your location.
Take Control of Your Genetic Health
Don’t let uncertainty about genetic conditions affect your health decisions. Our VPS33B genetic testing provides the clarity you need for informed medical management and family planning. With our discounted price of $500 USD and comprehensive genetic counseling support, you can access world-class diagnostic services without financial burden.
Ready to schedule your genetic test? Contact our genetic specialists today at +1(267) 388-9828 or book your appointment online. Take the first step toward understanding your genetic health and securing your family’s future.
