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VIPAS39 Gene Arthrogryposis, renal dysfunction, and cholestasis type 2 NGS Genetic Test

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VIPAS39 Gene Arthrogryposis, renal dysfunction, and cholestasis type 2 NGS Genetic Test

Short Name: VIPAS39 ARC2 NGS Test

Also known as: ARC2, VIPAS39-related disorder, Arthrogryposis-renal dysfunction-cholestasis syndrome type 2

VIPAS39 Gene Arthrogryposis, renal dysfunction, and cholestasis type 2 NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses Next-Generation Sequencing (NGS) on Blood or Extracted DNA or One drop Blood on FTA Card samples. Results in 3 to 4 Weeks. Free home collection in 300+ cities across India.

NGS Genetic Test🏠 Home Collection

✍️ Written By

🩺 Medically Reviewed By

Dr SULOCHANA HEMCHANDRA HOLLA

Dr SULOCHANA HEMCHANDRA HOLLA

Consultant Medical Geneticist · Reg: 8532

Last reviewed: September 3, 2026

Overview

The purpose of this test is to diagnose ARC2 by sequencing the VIPAS39 gene to identify pathogenic mutations, aiding in clinical management, genetic counseling, and family planning.

Test Code
5371
Price
₹20,000
Sample Type
Blood or Extracted DNA or One drop Blood on FTA Card
Result Time
3 to 4 Weeks
Fasting Required
No
Method
Next-Generation Sequencing (NGS)
Step 1

Sample Collection

No specific preparation required. Inform the healthcare provider about any medications or medical conditions.

Method: Venipuncture

Step 2

Laboratory Analysis

A blood sample will be drawn from a vein in the arm. For FTA card, a drop of blood is applied.

Step 3

Report Delivery

Apply pressure to the puncture site to stop bleeding. Resume normal activities.

Timeline: 3 to 4 Weeks

Patient Instructions

1
Before the Test:Consult with a genetic counselor or healthcare provider to discuss the test, its implications, and family history.
2
During the Test:The test involves a blood draw or DNA extraction, followed by NGS analysis in the laboratory to sequence the VIPAS39 gene.
3
After the Test:Results will be available in 3-4 weeks. Follow up with your healthcare provider for interpretation, genetic counseling, and management plans.

About This Test

Who Should Get This Test

The purpose of this test is to diagnose ARC2 by sequencing the VIPAS39 gene to identify pathogenic mutations, aiding in clinical management, genetic counseling, and family planning.

How to Prepare

  • Ensure proper identification of the patient
  • Use sterile equipment
  • Label samples correctly
  • Transport samples at ambient temperature

Doctor's Notes

Reviewed by — MBBS, MD (Medical Genetics) · Reg. No. 8532

"This genetic test is essential for families with a history of ARC2 to enable early intervention and management, especially in prenatal or pediatric settings."

Last medically reviewed: September 3, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
Sample Volume5-10 ml for blood
ContainerEDTA tube for blood
Collection MethodVenipuncture

Sample Stability

Blood samples stable for 48 hours at room temperature
Extracted DNA stable for longer periods if stored properly
Sample Rejection Criteria:
  • Hemolyzed or clotted samples
  • Insufficient sample volume
  • Improperly labeled samples

Understanding Your Results

Results indicate whether pathogenic mutations in the VIPAS39 gene are detected. Genetic counseling is recommended for understanding the implications and next steps.
📊

No pathogenic mutations detected

ARC2 is unlikely, but clinical correlation is advised if symptoms persist

📊

Pathogenic mutations detected

Diagnosis of ARC2 confirmed; genetic counseling and management recommended for the patient and family

⚠️ When to Consult a Doctor:

If you experience symptoms such as joint contractures, kidney problems, or liver dysfunction, or if there is a family history of ARC2, consult a healthcare provider for evaluation and testing.

Limitations

  • ⚠May not detect all types of mutations, such as large deletions or duplications
  • ⚠Requires genetic counseling for interpretation
  • ⚠Results should be correlated with clinical findings

Risks & Considerations

  • ●Minimal risk from blood draw, such as bruising, soreness, or infection at the puncture site

Interfering Factors

  • ●Sample contamination
  • ●Degraded DNA
  • ●Hemolyzed blood sample

Compare With Similar Tests

TestVIPAS39 Gene Arthrogryposis, renal dysfunction, and cholestasis type 2 NGS Genetic TestSanger Sequencing for VIPAS39Whole Exome Sequencing
ComparisonVIPAS39 Gene Arthrogryposis, renal dysfunction, and cholestasis type 2 NGS Genetic Test

Frequently Asked Questions

What is Arthrogryposis, renal dysfunction, and cholestasis type 2 (ARC2)?
ARC2 is a rare genetic disorder caused by mutations in the VIPAS39 gene, characterized by joint contractures, kidney dysfunction, and liver cholestasis.
How is ARC2 diagnosed?
ARC2 is diagnosed through genetic testing, specifically NGS sequencing of the VIPAS39 gene to identify mutations.
What are the common symptoms of ARC2?
Symptoms include joint contractures (arthrogryposis), renal tubular acidosis, cholestasis, jaundice, fatigue, and pale stools.
What sample is required for the VIPAS39 Gene ARC2 NGS Genetic Test?
The test can be performed on blood samples, extracted DNA, or one drop of blood on an FTA card.
What is the cost of the VIPAS39 Gene ARC2 NGS Genetic Test?
The test costs INR 20,000, and free home sample collection is available across India.
Is home sample collection available for this test?
Yes, DNA Labs India offers free home sample collection for online bookings in numerous cities across India.
How long does it take to receive the test results?
Results are typically available within 3 to 4 weeks after sample collection.
Is the VIPAS39 Gene ARC2 NGS Genetic Test covered by insurance?
This test may not be covered by insurance. Patients should check with their insurance provider before testing.
What do the test results indicate?
Results show whether pathogenic mutations in the VIPAS39 gene are detected. A positive result confirms ARC2, while a negative result makes it unlikely.
Can this test be performed on children?
Yes, the test can be performed on individuals of all ages, including children, especially if symptoms are present.
What are the risks associated with the test?
The risks are minimal, primarily related to blood draw, such as bruising or infection at the puncture site.
How should I prepare for the test?
No special preparation is required. Inform your healthcare provider about any medications or medical conditions before the test.
Worried about the process? Our certified phlebotomists collect thousands of samples every month across India. The process takes under 5 minutes and is virtually painless. Questions? Message us on WhatsApp — we're here 7 days a week.

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For Hospitals & Clinics

Reference Laboratory Services

We serve as a reference laboratory for hospitals and clinics across India. Send samples from your facility with same-day pickup, priority processing, and results delivered through our online portal. Competitive institutional pricing available.

LIMS Integration

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Your medical data is protected under Indian law.

✓ Stored in India: All patient records are stored on servers located in India. No data is transferred outside the country.

✓ DPDP Act Compliant: Under the Digital Personal Data Protection Act 2023, you can request deletion of your records at any time by contacting support.

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