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SNAI2 Gene Waardenburg syndrome type 2D NGS Genetic Test

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SNAI2 Gene Waardenburg syndrome type 2D NGS Genetic Test

Short Name: SNAI2 Gene Waardenburg Syndrome Type 2D Test

Also known as: Waardenburg Syndrome Type 2D, SNAI2 Gene Mutation Test

SNAI2 Gene Waardenburg syndrome type 2D 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 Pasupathy Arumugam

Dr Pasupathy Arumugam

Consultant Pathologist · Reg: 21521

Last reviewed: September 7, 2026

Overview

To diagnose Waardenburg syndrome type 2D by identifying mutations in the SNAI2 gene using next-generation sequencing.

Test Code
4604
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

Provide clinical history and undergo genetic counseling to draw a pedigree chart of affected family members.

Method: Venipuncture for blood, or DNA extraction from provided sample

Step 2

Laboratory Analysis

Blood sample will be collected via venipuncture or use of FTA card for one drop blood.

Step 3

Report Delivery

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

Timeline: 3 to 4 Weeks

Patient Instructions

1
Before the Test:Genetic counseling and clinical history review.
2
During the Test:Sample collection and processing.
3
After the Test:Report generation and delivery.

About This Test

Who Should Get This Test

To diagnose Waardenburg syndrome type 2D by identifying mutations in the SNAI2 gene using next-generation sequencing.

How to Prepare

  • Avoid strenuous activity before sample collection
  • Bring identification and prescription
  • Follow any specific instructions from the lab

Doctor's Notes

Reviewed by — MBBS, MD (Pathology) · Reg. No. 21521

"This test is crucial for early diagnosis and management of Waardenburg syndrome type 2D, especially in families with a history of hearing loss or pigmentation abnormalities."

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 DNA extraction from provided sample

Sample Stability

Blood samples stable at room temperature for 24 hours
Extracted DNA stable at -20°C for long-term storage
Sample Rejection Criteria:
  • Hemolyzed samples
  • Insufficient sample volume
  • Incorrect labeling

Understanding Your Results

Results indicate the presence or absence of pathogenic mutations in the SNAI2 gene.
📊

Positive for pathogenic variant

Confirms diagnosis of Waardenburg syndrome type 2D. Genetic counseling recommended.

📊

Negative for pathogenic variant

No mutations detected in SNAI2 gene. Clinical correlation advised.

📊

Variant of uncertain significance

Further testing and family studies may be needed.

⚠️ When to Consult a Doctor:

If you have symptoms of Waardenburg syndrome or a family history of the condition, consult a geneticist or neurologist for evaluation.

Limitations

  • ⚠May not detect all types of mutations
  • ⚠Results should be correlated with clinical findings
  • ⚠Genetic counseling recommended

Risks & Considerations

  • ●Minimal risk from blood draw
  • ●Possible bruising or infection at puncture site

Interfering Factors

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

Frequently Asked Questions

What is Waardenburg syndrome type 2D?
Waardenburg syndrome type 2D is a genetic condition caused by mutations in the SNAI2 gene, characterized by pigmentation abnormalities and hearing loss.
What causes Waardenburg syndrome type 2D?
Mutations in the SNAI2 gene cause this type of Waardenburg syndrome.
What are the common symptoms?
Symptoms include white forelocks, bright blue eyes, hearing loss, vision issues, and sometimes cleft lip/palate or organ abnormalities.
How is the test performed?
The test uses next-generation sequencing (NGS) to analyze the SNAI2 gene from a blood or DNA sample.
What is the cost of the test?
The test costs INR 20000 at DNA Labs India.
Is home sample collection available?
Yes, free home sample collection is available for online bookings across India.
How long does it take to get results?
Results are typically available in 3 to 4 weeks.
Do I need to fast before the test?
No fasting is required for this test.
What should I do before the test?
Provide your clinical history and undergo genetic counseling to draw a family pedigree chart.
What do positive results mean?
Positive results confirm the presence of pathogenic mutations in the SNAI2 gene, indicating Waardenburg syndrome type 2D.
Is genetic counseling recommended?
Yes, genetic counseling is recommended before and after testing to understand implications and management.
Can this test be used for prenatal diagnosis?
This test is typically for postnatal diagnosis; consult a geneticist for prenatal options.
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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