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WNT4 Gene SERKAL syndrome NGS Genetic Test

DNA Labs India | ISO 9001:2015 Certified

WNT4 Gene SERKAL syndrome NGS Genetic Test

Short Name: WNT4 Gene SERKAL Syndrome Test

WNT4 Gene SERKAL 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.

Pediatrics🏠 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

To diagnose SERKAL syndrome by detecting mutations in the WNT4 gene using NGS technology, enabling early intervention and genetic counseling.

Test Code
2810
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

Genetic counseling is recommended prior to testing. Provide detailed clinical and family history.

Method: Venipuncture

Step 2

Laboratory Analysis

Blood sample will be collected via venipuncture by a trained phlebotomist.

Step 3

Report Delivery

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

Timeline: 3 to 4 weeks

Patient Instructions

1
Before the Test:Genetic counseling session to discuss implications and draw a pedigree chart.
2
During the Test:Blood sample collection via venipuncture.
3
After the Test:Wait for report delivery in 3 to 4 weeks; follow up with genetic counselor.

About This Test

Who Should Get This Test

To diagnose SERKAL syndrome by detecting mutations in the WNT4 gene using NGS technology, enabling early intervention and genetic counseling.

How to Prepare

  • Ensure patient is relaxed and hydrated
  • Use sterile equipment for blood collection
  • Label sample correctly with patient details
  • Transport sample to lab within specified stability period

Doctor's Notes

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

"Early genetic testing for SERKAL syndrome can guide management, family planning, and improve quality of life through timely interventions."

Last medically reviewed: September 3, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
Sample VolumeAs required
ContainerEDTA tube or FTA card
Collection MethodVenipuncture

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
  • Incorrectly labeled or unlabeled sample

Understanding Your Results

Results indicate the presence or absence of mutations in the WNT4 gene. A positive result confirms SERKAL syndrome diagnosis, while a negative result may require further testing if symptoms persist.
📊

Pathogenic variant detected

Confirms diagnosis of SERKAL syndrome. Genetic counseling and management planning recommended.

📊

No pathogenic variant detected

SERKAL syndrome unlikely based on WNT4 gene analysis. Consider other genetic or clinical evaluations.

📊

Variant of uncertain significance

Further testing or family studies may be needed for clarification.

⚠️ When to Consult a Doctor:

If symptoms of SERKAL syndrome are present, such as skeletal, renal, or reproductive abnormalities, or if there is a family history of the disorder.

Limitations

  • ⚠May not detect all possible mutations in the WNT4 gene
  • ⚠Requires genetic counseling for interpretation
  • ⚠Results should be correlated with clinical findings

Risks & Considerations

  • ●Minimal risk from blood draw, such as bruising or infection
  • ●Psychological impact of genetic results

Interfering Factors

  • ●Sample contamination
  • ●Degraded DNA quality
  • ●Incorrect sample storage or handling

Compare With Similar Tests

TestWNT4 Gene SERKAL syndrome NGS Genetic TestWNT4 Gene Sequencing TestSERKAL Syndrome PanelUrogenital Development Genetic Test
ComparisonWNT4 Gene SERKAL syndrome NGS Genetic Test

Frequently Asked Questions

What is SERKAL syndrome?
SERKAL syndrome is a rare genetic disorder caused by mutations in the WNT4 gene, characterized by skeletal abnormalities, renal issues, hearing loss, and reproductive system abnormalities.
What causes SERKAL syndrome?
SERKAL syndrome is caused by mutations in the WNT4 gene, which is involved in urogenital system development.
What are the symptoms of SERKAL syndrome?
Symptoms include skeletal abnormalities like scoliosis, renal problems such as kidney cysts, hearing loss, and abnormalities in female reproductive organs.
How is SERKAL syndrome diagnosed?
Diagnosis is through genetic testing, specifically NGS Genetic Test to detect mutations in the WNT4 gene.
What is the WNT4 gene?
The WNT4 gene encodes a protein crucial for reproductive organ development and is located on chromosome 1.
What does the NGS Genetic Test involve?
The test involves sequencing the entire WNT4 gene using Next Generation Sequencing technology to identify mutations.
How accurate is the test?
The NGS Genetic Test is highly accurate for detecting mutations in the WNT4 gene, providing a definitive diagnosis.
What is the cost of the test in India?
The cost is approximately INR 20,000, with free home sample collection available across India.
Is home sample collection available?
Yes, free home sample collection is offered for online bookings in numerous cities across India.
How long does it take to get results?
Results are typically available within 3 to 4 weeks after sample collection.
What should I do if I test positive?
If positive, consult a genetic counselor and healthcare provider for management, family planning, and support.
Is genetic counseling provided?
Yes, genetic counseling is recommended before and after testing to discuss implications and results.
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

Your Data Privacy

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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