SLC26A4 Gene Pendred syndrome NGS Genetic Test
Short Name: Pendred Syndrome NGS Test
Also known as: Pendred Syndrome Genetic Test, SLC26A4 Mutation Analysis, Pendrin Gene Test
SLC26A4 Gene Pendred syndrome 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 3-4 Weeks. Free home collection in 300+ cities across India.
🩺 Medically Reviewed By
Dr SULOCHANA HEMCHANDRA HOLLA
Consultant Medical Geneticist · Reg: 8532
Last reviewed: September 7, 2026
Overview
The purpose of the SLC26A4 Gene Pendred Syndrome NGS Genetic Test is to identify mutations in the SLC26A4 gene, confirming diagnosis of Pendred Syndrome. This helps in understanding the genetic basis of hearing loss and thyroid abnormalities, enabling targeted management, family planning decisions, and early intervention.
- Test Code
- 2346
- Price
- ₹20,000
- Sample Type
- Blood or Extracted DNA or One drop Blood on FTA Card
- Result Time
- 3-4 Weeks
- Fasting Required
- No
- Method
- Next-Generation Sequencing (NGS)
Sample Collection
No specific preparation required. Provide clinical history and family pedigree information during genetic counseling.
Method: Venipuncture or FTA Card Spotting
Laboratory Analysis
A blood sample (3-5 mL) will be drawn via venipuncture or a saliva/FTA card sample collected by a trained phlebotomist.
Report Delivery
Apply pressure to the puncture site. Sample will be sent to the lab for analysis. Results available in 3-4 weeks.
Timeline: 3-4 Weeks
Patient Instructions
About This Test
Who Should Get This Test
The purpose of the SLC26A4 Gene Pendred Syndrome NGS Genetic Test is to identify mutations in the SLC26A4 gene, confirming diagnosis of Pendred Syndrome. This helps in understanding the genetic basis of hearing loss and thyroid abnormalities, enabling targeted management, family planning decisions, and early intervention.
How to Prepare
- Ensure sample is labeled correctly
- Avoid hemolysis by gentle handling
- Use sterile containers
- Maintain ambient temperature for FTA cards
Doctor's Notes
Reviewed by Dr SULOCHANA HEMCHANDRA HOLLA — MBBS, MD (Medical Genetics) · Reg. No. 8532
"Genetic testing for Pendred Syndrome is crucial for early diagnosis and management, especially in families with a history of hearing loss or thyroid disorders. Consult a genetic counselor for personalized advice."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Hemolyzed or lipemic sample
- Insufficient sample volume
- Incorrect labeling or container
- Sample older than stability period
Understanding Your Results
Positive for pathogenic variant
Confirms diagnosis of Pendred Syndrome. Genetic counseling and management recommended.
Negative for pathogenic variant
No mutations detected. Consider other causes or repeat testing if clinical suspicion remains.
Variant of uncertain significance (VUS)
Genetic variant detected but not clearly pathogenic. Requires further evaluation and counseling.
Consult a healthcare professional if you experience symptoms like hearing loss, goiter, or balance issues, especially with a family history. After testing, discuss results with a geneticist or ENT specialist for management.
Limitations
- ⚠May not detect all possible mutations in the SLC26A4 gene
- ⚠Requires genetic counseling for interpretation
- ⚠Does not replace clinical evaluation or other diagnostic tests
- ⚠Results may vary based on sequencing technology
Risks & Considerations
- ●Minimal risk from blood draw, such as slight pain or bruising
- ●No significant risks from saliva collection
- ●Emotional impact of genetic results—genetic counseling recommended
Interfering Factors
- ●Sample contamination
- ●Degraded or insufficient DNA quality
- ●Hemolyzed blood sample
- ●Recent blood transfusion
Compare With Similar Tests
| Test | SLC26A4 Gene Pendred syndrome NGS Genetic Test | Thyroid Function Test | Audiometry | MRI of Inner Ear | Sanger Sequencing |
|---|---|---|---|---|---|
| Comparison | SLC26A4 Gene Pendred syndrome NGS Genetic Test |
Frequently Asked Questions
What is Pendred Syndrome?
What causes Pendred Syndrome?
Who should consider this genetic test?
What does the SLC26A4 Gene Test involve?
What is the cost of the test in India?
Is home sample collection available?
How long does it take to get results?
What if the test result is positive?
What if the test result is negative?
Is genetic counseling required?
Can this test detect all Pendred Syndrome cases?
How do I book the test?
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₹20,000Reference 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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✓ 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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