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WFS1 Gene Wolfram syndrome type 1 NGS Genetic Test

DNA Labs India | ISO 9001:2015 Certified

WFS1 Gene Wolfram syndrome type 1 NGS Genetic Test

Short Name: WFS1 Wolfram Syndrome NGS Test

Also known as: DIDMOAD, Wolfram Syndrome Type 1 Genetic Test

WFS1 Gene Wolfram syndrome type 1 NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses NGS Technology on Blood or Extracted DNA or One drop Blood on FTA Card samples. Results in 3 to 4 weeks from sample receipt. Free home collection in 300+ cities across India.

NGS Genetic TestAll Ages🏠 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

The purpose of the WFS1 Gene Wolfram Syndrome Type 1 NGS Genetic Test is to diagnose Wolfram Syndrome by identifying pathogenic mutations in the WFS1 gene. This test aids in confirming clinical suspicion, guiding treatment strategies, and facilitating genetic counseling for patients and their families.

Test Code
4795
Price
₹20,000
Sample Type
Blood or Extracted DNA or One drop Blood on FTA Card
Result Time
3 to 4 weeks from sample receipt
Fasting Required
No
Method
NGS Technology
Step 1

Sample Collection

No special preparation is required. Genetic counseling is recommended before testing to understand implications.

Method: Blood Draw

Step 2

Laboratory Analysis

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

Step 3

Report Delivery

Apply pressure to the puncture site with a cotton ball to stop bleeding. Keep the area clean and dry.

Timeline: 3 to 4 weeks from sample receipt

Patient Instructions

1
Before the Test:Genetic counseling is recommended to discuss the test purpose, implications, and potential outcomes.
2
During the Test:The sample is processed in the laboratory using NGS technology to sequence the WFS1 gene and identify mutations.
3
After the Test:Results are analyzed by bioinformaticians and reviewed by a clinical geneticist before being reported to the patient or physician.

About This Test

Who Should Get This Test

The purpose of the WFS1 Gene Wolfram Syndrome Type 1 NGS Genetic Test is to diagnose Wolfram Syndrome by identifying pathogenic mutations in the WFS1 gene. This test aids in confirming clinical suspicion, guiding treatment strategies, and facilitating genetic counseling for patients and their families.

How to Prepare

  • Ensure proper patient identification
  • Use sterile collection equipment
  • Label samples accurately
  • Transport samples at ambient temperature as specified

Doctor's Notes

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

"Early genetic testing for Wolfram Syndrome can aid in timely management, symptom control, and informed 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 MethodBlood Draw

Sample Stability

Blood samples are stable for 48 hours at room temperature
Extracted DNA can be stored at -20°C for longer periods
Sample Rejection Criteria:
  • Hemolyzed or clotted samples
  • Insufficient sample volume
  • Improper labeling or documentation

Understanding Your Results

Test results indicate the presence or absence of mutations in the WFS1 gene associated with Wolfram Syndrome. Positive results confirm diagnosis, while negative results may require further clinical evaluation.
📊

Positive

Pathogenic variant detected in the WFS1 gene, consistent with Wolfram Syndrome Type 1. Clinical correlation and genetic counseling are advised.

📊

Negative

No pathogenic variants detected in the WFS1 gene. Symptoms may be due to other causes; further testing may be considered.

📊

Variant of Uncertain Significance (VUS)

A genetic variant was identified, but its clinical significance is unknown. Repeat testing or family studies may be recommended.

⚠️ When to Consult a Doctor:

Consult a geneticist or specialist if symptoms of Wolfram Syndrome are present, if there is a family history of the disorder, or if test results are positive or uncertain for guidance on management and family planning.

Limitations

  • ⚠May not detect all types of mutations, such as large deletions or deep intronic variants
  • ⚠Results require interpretation by a geneticist
  • ⚠Does not rule out other genetic disorders with overlapping symptoms

Risks & Considerations

  • ●Minimal risk from blood draw, such as bruising or infection
  • ●Psychological impact of results, including anxiety or stress
  • ●Potential for incidental findings unrelated to Wolfram Syndrome

Interfering Factors

  • ●Sample degradation or contamination
  • ●Insufficient DNA quantity or quality
  • ●Technical errors during sequencing

Compare With Similar Tests

TestWFS1 Gene Wolfram syndrome type 1 NGS Genetic Test
ComparisonWFS1 Gene Wolfram syndrome type 1 NGS Genetic Test

Frequently Asked Questions

What is Wolfram Syndrome?
Wolfram Syndrome is a rare genetic disorder characterized by diabetes mellitus, optic atrophy, hearing loss, and diabetes insipidus, often referred to as DIDMOAD.
What causes Wolfram Syndrome?
It is caused by mutations in the WFS1 gene, which leads to dysfunction of the wolframin protein, affecting multiple body systems.
What are the common symptoms of Wolfram Syndrome?
Symptoms include early-onset type 1 diabetes, progressive vision loss, sensorineural hearing loss, excessive thirst and urination, and neurological issues like ataxia or seizures.
How is Wolfram Syndrome diagnosed?
Diagnosis is confirmed through genetic testing, such as the WFS1 Gene NGS test, which detects mutations in the WFS1 gene.
What is the WFS1 Gene Wolfram Syndrome Type 1 NGS Genetic Test?
It is a next-generation sequencing test that analyzes the WFS1 gene to identify mutations associated with Wolfram Syndrome Type 1.
How much does the test cost?
The test costs INR 20000 at DNA Labs India, with free home sample collection 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 get the test results?
Results are typically available within 3 to 4 weeks after sample collection.
What do the test results mean?
Positive results indicate a pathogenic mutation in the WFS1 gene, confirming Wolfram Syndrome. Negative results suggest no mutations were found, but clinical correlation is needed.
Is genetic counseling provided with the test?
Yes, genetic counseling is included to help understand the test implications, results, and management options.
Can the test be performed on children?
Yes, the test can be performed on individuals of all ages, including children, especially if symptoms are present or there is a family history.
What are the risks associated with the test?
Risks are minimal and include standard blood draw risks like bruising. Psychological impacts of results may occur, so counseling is recommended.
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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