VIPAS39 Gene Arthrogryposis Renal Dysfunction and Cholestasis Type 2 NGS Genetic DNA Test
Understanding VIPAS39 Gene Testing
The VIPAS39 Gene Arthrogryposis Renal Dysfunction and Cholestasis Type 2 NGS Genetic DNA Test represents a cutting-edge diagnostic approach for identifying mutations in the VIPAS39 gene, which is crucial for proper cellular function and organ development. This comprehensive genetic analysis utilizes next-generation sequencing technology to provide accurate detection of pathogenic variants associated with ARC syndrome type 2, a rare autosomal recessive disorder affecting multiple body systems.
What Does This Test Measure?
This advanced genetic test specifically targets the VIPAS39 gene, which encodes the VPS33B-interacting protein involved in intracellular protein trafficking and membrane fusion processes. The test detects:
- Point mutations and small insertions/deletions in the VIPAS39 gene
- Pathogenic variants associated with ARC syndrome type 2
- Genetic markers for arthrogryposis, renal dysfunction, and cholestasis
- Inheritance patterns through comprehensive genetic analysis
Who Should Consider VIPAS39 Genetic Testing?
This specialized genetic test is recommended for individuals presenting with specific clinical symptoms or family history patterns:
Clinical Indications Include:
- Infants or children with unexplained cholestasis and liver dysfunction
- Patients presenting with renal tubular dysfunction and electrolyte imbalances
- Individuals with congenital joint contractures (arthrogryposis)
- Families with history of ARC syndrome type 2
- Siblings of affected individuals for carrier screening
- Patients with combined hepatology, nephrology, and endocrine disorders
Key Benefits of VIPAS39 Genetic Testing
Undergoing VIPAS39 genetic testing provides numerous advantages for patients and healthcare providers:
- Accurate Diagnosis: Provides definitive genetic confirmation of ARC syndrome type 2
- Early Intervention: Enables timely management of multisystem complications
- Family Planning: Offers 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
Understanding Your Test Results
Our comprehensive genetic counseling services help you interpret your VIPAS39 test results:
Possible Result Interpretations:
- Positive Result: Identifies pathogenic variants in the VIPAS39 gene, confirming ARC syndrome type 2 diagnosis
- Negative Result: No disease-causing mutations detected, though clinical correlation remains essential
- Variant of Uncertain Significance: Identifies genetic changes with unclear clinical implications requiring further evaluation
- Carrier Status: Identifies individuals with one copy of the mutated gene who may pass it to offspring
Test Pricing and Availability
| Test Feature | Details |
|---|---|
| Test Name | VIPAS39 Gene Arthrogryposis Renal Dysfunction and Cholestasis 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 |
Nationwide Testing Availability
We proudly offer VIPAS39 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, and San Jose. Our state-of-the-art genetic testing facilities ensure consistent, high-quality results regardless of your location.
Take Control of Your Genetic Health Today
Don’t wait to get the answers you need for proper diagnosis and management of ARC syndrome type 2. Our experienced genetic counselors and medical professionals are ready to guide you through the testing process and help you understand your results.
Book your VIPAS39 genetic test today by calling our dedicated genetic testing line at +1(267) 388-9828 or schedule your appointment online. Early genetic diagnosis can make a significant difference in managing this complex multisystem disorder.
