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SOX10 Gene Waardenburg syndrome type 2E NGS Genetic Test

DNA Labs India | ISO 9001:2015 Certified

SOX10 Gene Waardenburg syndrome type 2E NGS Genetic Test

Short Name: SOX10 Gene Test

Also known as: Waardenburg Syndrome Type 2E NGS Test, SOX10 Genetic Test

SOX10 Gene Waardenburg syndrome type 2E 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 Test🏠 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 identify mutations in the SOX10 gene for accurate diagnosis of Waardenburg Syndrome Type 2E, aiding in clinical management and genetic counseling.

Test Code
5166
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

Clinical history review and genetic counseling session recommended to draw a pedigree chart of family members.

Method: Venipuncture or FTA card collection

Step 2

Laboratory Analysis

Blood sample collected via venipuncture or one drop on FTA card under aseptic conditions.

Step 3

Report Delivery

Sample labeled and transported to the laboratory for NGS analysis.

Timeline: 3 to 4 weeks from sample receipt

Patient Instructions

1
Before the Test:Genetic counseling session to discuss test implications, family history, and obtain informed consent.
2
During the Test:Blood sample collection via venipuncture or FTA card; minimal discomfort.
3
After the Test:Wait for report delivery in 3-4 weeks; consult with genetic counselor for result interpretation.

About This Test

Who Should Get This Test

To identify mutations in the SOX10 gene for accurate diagnosis of Waardenburg Syndrome Type 2E, aiding in clinical management and genetic counseling.

How to Prepare

  • Ensure proper patient identification and sample labeling
  • Use sterile collection equipment
  • Follow standard phlebotomy procedures

Doctor's Notes

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

"This test is crucial for early diagnosis and management of Waardenburg Syndrome Type 2E, enabling personalized care and genetic counseling."

Last medically reviewed: September 7, 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 or FTA card collection

Sample Stability

Blood sample stable for 48 hours at room temperature
FTA card stable for several weeks at room temperature
Sample Rejection Criteria:
  • Hemolyzed or clotted sample
  • Insufficient sample volume
  • Improperly labeled samples

Understanding Your Results

Results indicate the presence or absence of pathogenic mutations in the SOX10 gene, which are associated with Waardenburg Syndrome Type 2E.
📊

Pathogenic mutation detected

Confirms diagnosis of Waardenburg Syndrome Type 2E; genetic counseling recommended.

📊

No pathogenic mutation detected

Unlikely to have Waardenburg Syndrome Type 2E due to SOX10 mutations; consider other genetic or clinical evaluations.

⚠️ When to Consult a Doctor:

If symptoms of Waardenburg Syndrome are present, such as pigmentation abnormalities or hearing loss, or for genetic counseling regarding family planning.

Limitations

  • ⚠May not detect all types of SOX10 mutations
  • ⚠Requires genetic counseling for interpretation
  • ⚠Not a screening test for general population

Risks & Considerations

  • ●Minimal risk from blood draw, such as bruising or infection
  • ●Potential psychological impact of genetic diagnosis

Interfering Factors

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

Compare With Similar Tests

TestSOX10 Gene Waardenburg syndrome type 2E NGS Genetic Test
ComparisonSOX10 Gene Waardenburg syndrome type 2E NGS Genetic Test

Frequently Asked Questions

What is the SOX10 Gene Waardenburg Syndrome Type 2E NGS Genetic Test?
It is a genetic test that uses Next Generation Sequencing to detect mutations in the SOX10 gene, which cause Waardenburg Syndrome Type 2E, a disorder affecting pigmentation and hearing.
How much does the test cost?
The test costs INR 20000 at DNA Labs India, with free home sample collection available across India.
What are the symptoms of Waardenburg Syndrome Type 2E?
Symptoms include white patches of skin or hair, abnormal iris pigmentation, hearing loss, eye abnormalities, cleft lip or palate, and facial bone issues.
How is the test performed?
The test is performed using a blood sample or extracted DNA, analyzed via NGS technology to identify SOX10 gene mutations.
What sample type is required?
Blood, extracted DNA, or one drop of blood on an FTA card.
How long does it take to get results?
Results are typically available within 3 to 4 weeks after sample collection.
Is the test covered by insurance?
Generally, the test is not covered by insurance; it is advisable to check with your insurance provider.
What is the accuracy of the test?
The NGS Genetic Test is highly accurate for detecting SOX10 gene mutations, but genetic counseling is recommended for interpretation.
Who should take this test?
Individuals with symptoms of Waardenburg Syndrome, a family history of the disorder, or those seeking genetic diagnosis.
What is the role of genetic counseling?
Genetic counseling helps interpret test results, understand inheritance patterns, and provide guidance on management and family planning.
Are there any risks associated with the test?
Risks are minimal, such as discomfort from blood draw, but psychological impacts of genetic results should be considered.
How can I book the test?
You can book the test online through DNA Labs India's website or by contacting their customer service for home sample collection.
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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