VIPAS39 Gene Arthrogryposis Renal Dysfunction and Cholestasis Type 2 NGS Genetic DNA Test
Comprehensive Genetic Testing for ARC Syndrome Type 2
The VIPAS39 Gene NGS Genetic DNA Test represents a breakthrough in molecular diagnostics for rare genetic disorders. This advanced test specifically targets mutations in the VIPAS39 (VPS33B-interacting protein, apical-basolateral polarity regulator) gene, which plays a critical role in intracellular protein trafficking and cellular polarity maintenance. When this gene malfunctions, it leads to Arthrogryposis Renal Dysfunction and Cholestasis (ARC) syndrome type 2, a severe multisystem disorder affecting multiple organ systems.
What This Test Measures and Detects
Our VIPAS39 Gene Test utilizes cutting-edge Next-Generation Sequencing (NGS) technology to comprehensively analyze the entire coding region of the VIPAS39 gene. The test specifically identifies:
- Point mutations and single nucleotide variations
- Small insertions and deletions (indels)
- Copy number variations affecting the VIPAS39 gene
- Pathogenic variants associated with ARC syndrome type 2
- Novel mutations that may not be documented in existing databases
Who Should Consider This Genetic Test
This specialized genetic test is recommended for individuals presenting with the following symptoms or clinical scenarios:
- Newborns or infants with congenital joint contractures (arthrogryposis)
- Patients showing signs of renal tubular dysfunction and electrolyte imbalances
- Individuals with persistent cholestasis and liver function abnormalities
- Families with history of ARC syndrome or similar multisystem disorders
- Couples with previous affected children planning future pregnancies
- Patients with unexplained failure to thrive in infancy
- Individuals with ichthyosis or other skin abnormalities alongside systemic symptoms
Significant Benefits of VIPAS39 Genetic Testing
Undergoing the VIPAS39 Gene Test provides numerous advantages for patients and families:
- Accurate Diagnosis: Provides definitive molecular confirmation of ARC syndrome type 2
- Early Intervention: Enables prompt initiation of appropriate medical management
- Family Planning: Offers crucial information for reproductive decision-making
- Prognostic Insights: Helps predict disease progression and potential complications
- Personalized Care: Guides targeted treatment approaches based on genetic findings
- Genetic Counseling: Supports informed discussions about inheritance patterns
Understanding Your Test Results
Our comprehensive genetic counseling services help you interpret your VIPAS39 Gene Test results:
- Positive Result: Indicates presence of pathogenic mutations confirming ARC syndrome type 2 diagnosis
- Negative Result: Suggests absence of known VIPAS39 mutations, though other genetic causes may need investigation
- Variant of Uncertain Significance: Requires additional family studies and clinical correlation
- Carrier Status: Identifies individuals with one mutated copy who may pass the condition to offspring
Test Pricing and Availability
| Test Name | Discount Price | Regular Price |
|---|---|---|
| VIPAS39 Gene Arthrogryposis Renal Dysfunction and Cholestasis Type 2 NGS Genetic DNA Test | 500 USD | 700 USD |
Nationwide Testing Accessibility
We proudly serve patients across the United States with convenient testing 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 network of certified genetic counselors and medical professionals ensures you receive comprehensive support throughout the testing process.
Take Action Today
Don’t let uncertainty about genetic conditions affect your family’s future. Our VIPAS39 Gene Test provides the clarity you need for informed medical decisions and family planning. With a turnaround time of 3-4 weeks and sample collection options including blood, extracted DNA, or blood spots on FTA cards, getting tested has never been more convenient.
Call us today at +1(267) 388-9828 to schedule your genetic counseling session and book your VIPAS39 Gene Test. Our expert team is ready to guide you through every step of the process and help you understand your genetic health.
