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VANGL1 Gene Caudal regression syndrome NGS Genetic Test

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VANGL1 Gene Caudal regression syndrome NGS Genetic Test

Short Name: VANGL1 Gene CRS NGS Test

Also known as: Caudal Regression Syndrome Genetic Test, VANGL1 Mutation Test, CRS NGS Test

VANGL1 Gene Caudal regression syndrome NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses NGS (Next-Generation Sequencing) 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.

PediatricsPediatric🏠 Home Collection

✍️ Written By

🩺 Medically Reviewed By

Dr SULOCHANA HEMCHANDRA HOLLA

Dr SULOCHANA HEMCHANDRA HOLLA

Consultant Medical Geneticist · Reg: 8532

Last reviewed: September 7, 2026

Overview

To detect mutations in the VANGL1 gene associated with Caudal Regression Syndrome for accurate diagnosis, management, and genetic counseling.

Test Code
5694
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
NGS (Next-Generation Sequencing)
Step 1

Sample Collection

No special preparation required. Provide clinical history and family pedigree information.

Method: Blood Draw

Step 2

Laboratory Analysis

A blood sample will be drawn by a trained phlebotomist using sterile equipment.

Step 3

Report Delivery

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

Timeline: 3 to 4 Weeks

Patient Instructions

1
Before the Test:Provide clinical history and undergo genetic counseling. No fasting required.
2
During the Test:Blood sample collection via venipuncture. Procedure is quick and non-invasive.
3
After the Test:Sample sent for NGS analysis. Results available in 3-4 weeks.

About This Test

Who Should Get This Test

To detect mutations in the VANGL1 gene associated with Caudal Regression Syndrome for accurate diagnosis, management, and genetic counseling.

How to Prepare

  • Ensure proper patient identification
  • Use sterile blood collection tubes
  • Label samples correctly
  • Transport at ambient temperature

Doctor's Notes

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

"Genetic testing for VANGL1 mutations is crucial for accurate diagnosis and management of Caudal Regression Syndrome, especially in families with a history of the condition."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
Collection MethodBlood Draw

Sample Stability

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

Understanding Your Results

Results indicate the presence or absence of mutations in the VANGL1 gene. Positive results suggest a genetic predisposition to Caudal Regression Syndrome.
📊

Positive for VANGL1 mutation

Indicates a genetic variant associated with CRS. Genetic counseling recommended.

📊

Negative for VANGL1 mutation

No pathogenic variants detected. Clinical correlation advised.

📊

Variant of uncertain significance

Further testing or family studies may be needed.

⚠️ When to Consult a Doctor:

If symptoms of CRS are present, family history exists, or genetic test results are abnormal, consult a geneticist or pediatric specialist.

Limitations

  • ⚠May not detect all genetic variants
  • ⚠Requires genetic counseling for interpretation
  • ⚠Results should be correlated with clinical findings

Risks & Considerations

  • ●Minimal risk from blood draw (bruising, infection)
  • ●Genetic counseling recommended for emotional support

Interfering Factors

  • ●Sample contamination
  • ●Degraded DNA
  • ●Improper sample handling

Frequently Asked Questions

What is Caudal Regression Syndrome?
Caudal Regression Syndrome is a rare congenital disorder affecting the lower body, including the spinal cord, spine, and pelvis.
What is the VANGL1 gene?
The VANGL1 gene is involved in neural tube development and planar cell polarity, with mutations linked to Caudal Regression Syndrome.
How is CRS diagnosed?
Diagnosis involves physical examination, imaging tests like X-rays or MRI, and genetic testing for mutations in genes like VANGL1.
What does the NGS Genetic Test involve?
The test uses Next-Generation Sequencing to analyze the VANGL1 gene from a blood sample, detecting mutations associated with CRS.
What is the cost of the test?
The VANGL1 Gene Caudal Regression Syndrome NGS Genetic Test costs INR 20000 at DNA Labs India.
Is home sample collection available?
Yes, DNA Labs India offers free home sample collection for this test across numerous cities in India.
How long does it take to get results?
Results are typically available within 3 to 4 weeks after sample collection.
What are the symptoms of CRS?
Symptoms include tailbone absence, spinal curvature, leg abnormalities, and bladder/bowel problems.
Can CRS be treated?
Treatment focuses on managing symptoms and may include surgery, physical therapy, and supportive care. Genetic testing aids in planning.
Is genetic testing necessary for CRS?
Genetic testing helps confirm diagnosis, understand genetic basis, and guide family planning, especially with family history.
What if the test is positive?
A positive result indicates a VANGL1 mutation associated with CRS. Genetic counseling is recommended for next steps.
How accurate is the NGS test?
NGS is highly accurate for detecting genetic mutations, but results should be interpreted by a genetic specialist in clinical context.
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.

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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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