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SYNE4 Gene Deafness, autosomal recessive type 76 NGS Genetic Test

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SYNE4 Gene Deafness, autosomal recessive type 76 NGS Genetic Test

Short Name: SYNE4 Gene Test

Also known as: DFNB76, Autosomal Recessive Deafness Type 76

SYNE4 Gene Deafness, autosomal recessive type 76 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 3-4 weeks. 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

The purpose of the SYNE4 Gene Deafness NGS Genetic Test is to detect mutations in the SYNE4 gene that cause autosomal recessive deafness type 76. This test aids in confirming diagnosis, guiding treatment decisions, facilitating carrier testing for family members, and supporting genetic counseling for informed family planning.

Test Code
4746
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
NGS, Next-Generation Sequencing
Step 1

Sample Collection

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

Method: Blood Draw

Step 2

Laboratory Analysis

A blood sample will be collected via venipuncture or a drop of blood on an FTA card.

Step 3

Report Delivery

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

Timeline: 3-4 weeks

Patient Instructions

1
Before the Test:Clinical history of the patient and a genetic counseling session to draw a pedigree chart of family members affected with deafness.
2
During the Test:The test involves Next-Generation Sequencing (NGS) of the SYNE4 gene from a blood or DNA sample.
3
After the Test:Results are reviewed by a geneticist, and genetic counseling is provided to discuss findings and implications.

About This Test

Who Should Get This Test

The purpose of the SYNE4 Gene Deafness NGS Genetic Test is to detect mutations in the SYNE4 gene that cause autosomal recessive deafness type 76. This test aids in confirming diagnosis, guiding treatment decisions, facilitating carrier testing for family members, and supporting genetic counseling for informed family planning.

How to Prepare

  • Ensure proper identification of the patient
  • Use sterile collection equipment
  • Label samples correctly with patient details
  • Transport samples at ambient room temperature

Doctor's Notes

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

"Genetic testing for deafness is essential for accurate diagnosis and management. The SYNE4 gene test helps in identifying the cause of hearing loss, enabling personalized care and family counseling."

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 stable for 48 hours at room temperature
Extracted DNA stable for longer periods if stored properly
Sample Rejection Criteria:
  • Hemolyzed or clotted samples
  • Insufficient sample volume
  • Improperly labeled samples

Understanding Your Results

Results from the SYNE4 Gene Deafness NGS Genetic Test indicate the presence or absence of pathogenic mutations in the SYNE4 gene. A positive result confirms genetic deafness type 76, while a negative result suggests no detectable mutations, though other genetic causes may exist.
Positive: Pathogenic variant detected – confirms diagnosis of DFNB76
Negative: No pathogenic variants detected – genetic deafness due to SYNE4 unlikely
Variant of Uncertain Significance (VUS) – further testing or family studies may be needed
Carrier status – one pathogenic variant detected, indicating carrier for autosomal recessive condition
⚠️ When to Consult a Doctor:

Consult a doctor if you experience symptoms of hearing loss, have a family history of deafness, or receive a positive or uncertain test result for genetic counseling and management.

Limitations

  • ⚠May not detect all types of mutations, such as large deletions or duplications
  • ⚠Requires genetic counseling for proper interpretation
  • ⚠Results may have variants of uncertain significance (VUS)

Risks & Considerations

  • ●Minimal risk from blood draw, such as bruising or infection
  • ●Potential psychological impact of genetic results
  • ●Risk of genetic discrimination, though protected by laws in some regions

Interfering Factors

  • ●Sample contamination
  • ●Degraded DNA
  • ●Hemolyzed blood samples

Frequently Asked Questions

What is SYNE4 Gene Deafness?
SYNE4 Gene Deafness, also known as Autosomal Recessive Type 76 (DFNB76), is a genetic condition caused by mutations in the SYNE4 gene, leading to hearing loss due to inner ear dysfunction.
How is the SYNE4 Gene Deafness test performed?
The test uses Next-Generation Sequencing (NGS) to analyze the SYNE4 gene from a blood or DNA sample, identifying mutations associated with deafness.
What does a positive test result mean?
A positive result indicates the presence of pathogenic mutations in the SYNE4 gene, confirming a diagnosis of autosomal recessive deafness type 76.
Is genetic counseling required for this test?
Yes, genetic counseling is recommended before and after testing to understand implications, interpret results, and discuss family planning.
What is the cost of the SYNE4 Gene Deafness test?
The test costs INR 20000, which includes sample collection, analysis, and report generation.
How long does it take to get results?
Results are typically available within 3-4 weeks after sample collection.
Is home sample collection available for this test?
Yes, DNA Labs India offers free home sample collection across India for online bookings.
What are the symptoms of SYNE4 gene deafness?
Symptoms may include difficulty hearing or understanding speech, frequent ear infections, ringing in the ears (tinnitus), and balance problems.
Can this test detect all mutations in the SYNE4 gene?
The NGS test is comprehensive but may not detect all mutation types, such as large structural variants; additional tests may be needed in some cases.
What is the difference between NGS and other genetic tests?
NGS allows for high-throughput sequencing of entire genes, providing more detailed and accurate mutation detection compared to traditional methods like Sanger sequencing.
Is the test covered by insurance?
Coverage depends on the insurance provider and policy; it is not typically covered under government schemes like PMJAY or CGHS.
How accurate is the NGS Genetic Test for SYNE4?
The test is highly accurate for detecting point mutations and small indels in the SYNE4 gene, with validation through clinical studies.
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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