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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 Gene ARC Syndrome NGS Test

Also known as: ARC Syndrome Type 2, VIPAS39-related ARC syndrome

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.

Next-Generation Sequencing (NGS) Genetic Test🏠 Home Collection

🩺 Medically Reviewed By

Overview

The purpose of the VIPAS39 Gene ARC Syndrome NGS Genetic Test is to identify pathogenic mutations in the VIPAS39 gene for accurate diagnosis of ARC syndrome, assess carrier status in families, and inform medical management and reproductive planning.

Test Code
2357
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. Ensure genetic counseling is scheduled prior to testing.

Method: Venipuncture for blood or FTA card for drop blood

Step 2

Laboratory Analysis

A blood sample is drawn via venipuncture or a drop of blood is collected on an FTA card.

Step 3

Report Delivery

Apply pressure to the puncture site to prevent bleeding. Store samples as instructed.

Timeline: 3 to 4 Weeks

Patient Instructions

1
Before the Test:Genetic counseling session to discuss implications, family history, and obtain informed consent.
2
During the Test:Sample collection is quick and minimally invasive, involving a blood draw or FTA card use.
3
After the Test:Sample is sent to the laboratory for NGS analysis; results are reviewed by geneticists.

About This Test

Who Should Get This Test

The purpose of the VIPAS39 Gene ARC Syndrome NGS Genetic Test is to identify pathogenic mutations in the VIPAS39 gene for accurate diagnosis of ARC syndrome, assess carrier status in families, and inform medical management and reproductive planning.

How to Prepare

  • Use sterile equipment for blood collection
  • Label samples correctly with patient details
  • Transport blood samples at ambient temperature or on ice packs as per guidelines
  • For FTA cards, allow blood to dry completely before packaging

Doctor's Notes

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

"Early genetic testing for VIPAS39 mutations is essential for confirming ARC syndrome, guiding management, and informing family planning decisions."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
Collection MethodVenipuncture for blood or FTA card for drop blood

Sample Stability

Blood samples: Stable for up to 7 days at room temperature
Extracted DNA: Stable for longer periods when stored properly
FTA cards: Stable for extended periods if stored dry
Sample Rejection Criteria:
  • Hemolyzed or clotted blood samples
  • Insufficient sample volume
  • Incorrectly labeled or unlabeled samples
  • Contaminated samples

Understanding Your Results

Results indicate whether pathogenic mutations in the VIPAS39 gene are detected. A positive result confirms ARC syndrome diagnosis, while a negative result may require further clinical evaluation.
Pathogenic variant detected: Confirms diagnosis of ARC syndrome; genetic counseling recommended for family planning.
No pathogenic variant detected: Reduces likelihood of ARC syndrome but does not exclude it if clinical symptoms persist; consider other genetic or environmental factors.
Variant of uncertain significance: Requires further investigation or family studies to determine clinical significance.
⚠️ When to Consult a Doctor:

Consult a geneticist or healthcare provider if symptoms suggestive of ARC syndrome are present, for interpretation of test results, or for genetic counseling regarding family planning.

Limitations

  • Cannot detect all types of genetic variations, such as large deletions or duplications in some cases
  • Results may not identify variants of uncertain significance without further functional studies
  • Test does not screen for other genetic disorders not related to VIPAS39

Risks & Considerations

  • Minor bruising or discomfort at the blood draw site
  • Emotional impact of test results, addressed through genetic counseling

Interfering Factors

  • Poor sample quality or insufficient DNA quantity
  • Contamination during sample collection or processing
  • Recent blood transfusions may affect DNA analysis

Compare With Similar Tests

TestVIPAS39 Gene Arthrogryposis, renal dysfunction, and cholestasis type 2 NGS Genetic TestVPS33B Gene ARC Syndrome Type 1 TestComprehensive Renal Genetic PanelCholestasis Genetic Panel
ComparisonVIPAS39 Gene Arthrogryposis, renal dysfunction, and cholestasis type 2 NGS Genetic Test

Frequently Asked Questions

What is ARC syndrome?
ARC syndrome is a rare genetic disorder characterized by joint contractures (arthrogryposis), kidney dysfunction (renal tubular acidosis), and liver dysfunction (cholestasis), caused by mutations in the VIPAS39 or VPS33B genes.
Why is VIPAS39 gene testing important?
Testing for VIPAS39 gene mutations confirms the diagnosis of ARC syndrome type 2, guides medical management, and helps in assessing carrier status for family planning.
How is the VIPAS39 Gene ARC Syndrome NGS Test performed?
The test uses next-generation sequencing (NGS) to analyze the VIPAS39 gene from a blood or DNA sample, identifying mutations with high accuracy.
What is the cost of the test?
The test costs INR 20,000 at DNA Labs India, with free home sample collection available across India.
What samples are accepted for this test?
Blood, extracted DNA, or one drop of blood on an FTA card are accepted samples.
Is fasting required before the test?
No, fasting is not required for this genetic test.
How long does it take to get results?
Results are typically available within 3 to 4 weeks after sample collection.
Can this test detect all mutations in the VIPAS39 gene?
NGS technology detects most mutations, but some variants like large rearrangements may require additional testing methods.
What does a positive result mean?
A positive result confirms the presence of pathogenic VIPAS39 mutations, indicating ARC syndrome. Genetic counseling is recommended to discuss implications.
Is genetic counseling provided with the test?
Yes, DNA Labs India includes a genetic counseling session to help interpret results and discuss family planning.
Can carriers of VIPAS39 mutations have symptoms?
Carriers typically do not show symptoms but can pass the mutation to offspring. Testing helps identify carriers for informed family planning.
Is home sample collection available?
Yes, free home sample collection is offered for online bookings across numerous cities in India.
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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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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