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DIAPH3 Gene Auditory neuropathy, autosomal dominant NGS Genetic Test

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DIAPH3 Gene Auditory neuropathy, autosomal dominant NGS Genetic Test

Short Name: DIAPH3 AUNA NGS Test

Also known as: Auditory Neuropathy Autosomal Dominant, AUNA, DIAPH3-Related Hearing Loss

DIAPH3 Gene Auditory neuropathy, autosomal dominant NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses Next Generation Sequencing (NGS), DNA Sequencing 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 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 this test is to identify pathogenic mutations in the DIAPH3 gene that cause autosomal dominant auditory neuropathy. It aids in confirming diagnosis, guiding treatment decisions, and facilitating genetic counseling for affected individuals and families.

Test Code
2287
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), DNA Sequencing
Step 1

Sample Collection

No specific preparation is required. Ensure accurate patient identification and informed consent are obtained.

Method: Venipuncture

Step 2

Laboratory Analysis

Collect blood sample via venipuncture or use FTA card as per standard protocol. Maintain aseptic conditions.

Step 3

Report Delivery

Label samples properly and store at appropriate temperature until transport to the laboratory.

Timeline: 3 to 4 Weeks

Patient Instructions

1
Before the Test:Ensure genetic counseling is provided and patient understands the test implications.
2
During the Test:Sample collection is non-invasive and quick, with minimal discomfort.
3
After the Test:Wait for the report in 3-4 weeks and consult a specialist for result interpretation.

About This Test

Who Should Get This Test

The purpose of this test is to identify pathogenic mutations in the DIAPH3 gene that cause autosomal dominant auditory neuropathy. It aids in confirming diagnosis, guiding treatment decisions, and facilitating genetic counseling for affected individuals and families.

How to Prepare

  • Verify patient identity and consent
  • Use sterile equipment for blood draw
  • Store samples in a cool, dry place
  • Transport to lab within specified timeframes

Doctor's Notes

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

"Genetic testing for auditory neuropathy is essential for early intervention, especially in families with a history of hearing disorders, aiding in management 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 Volume3-5 mL Blood
ContainerEDTA Tube or FTA Card
Collection MethodVenipuncture

Sample Stability

Blood samples: Stable for 24-48 hours at room temperature
FTA cards: Stable for extended periods at room temperature
Sample Rejection Criteria:
  • Insufficient sample volume
  • Contaminated or hemolyzed samples
  • Incorrect labeling or missing documentation

Understanding Your Results

Results indicate the presence or absence of mutations in the DIAPH3 gene. Positive results confirm a genetic basis for auditory neuropathy, while negative results may require further testing or clinical evaluation.
Positive: Mutation detected; associated with autosomal dominant auditory neuropathy
Negative: No mutation detected; does not rule out other genetic causes
Variant of uncertain significance (VUS): May require additional family studies or functional analysis
⚠️ When to Consult a Doctor:

Consult a doctor or genetic counselor if you have a family history of hearing loss, experience symptoms like hearing difficulty or balance issues, or after receiving test results for personalized management.

Limitations

  • ⚠May not detect all rare variants or non-coding mutations
  • ⚠Requires clinical correlation and genetic counseling for interpretation
  • ⚠Results are not diagnostic without clinical assessment

Risks & Considerations

  • ●Minimal physical risk from blood draw
  • ●Potential psychological impact of genetic results
  • ●Risk of false positives or negatives in rare cases

Interfering Factors

  • ●Sample contamination
  • ●Improper sample storage or handling
  • ●Degraded DNA quality
  • ●Technical errors in sequencing

Frequently Asked Questions

What is DIAPH3 Gene Auditory Neuropathy?
It is a rare genetic disorder caused by mutations in the DIAPH3 gene, leading to hearing loss, speech understanding difficulties, and balance problems due to impaired auditory nerve function.
How is this condition inherited?
It is inherited in an autosomal dominant pattern, meaning only one mutated gene copy from an affected parent is needed to pass the disorder to offspring.
What are the common symptoms?
Symptoms include variable hearing loss from mild to severe, difficulty understanding speech especially in noisy environments, and problems with balance or coordination.
Who should consider getting this test?
Individuals with unexplained hearing loss, a family history of auditory neuropathy, or those referred for genetic counseling should consider this test.
How is the test performed?
The test uses Next Generation Sequencing (NGS) to analyze DNA from a blood or saliva sample for mutations in the DIAPH3 gene.
What is the cost of the test in India?
The cost is approximately INR 20000 at DNA Labs India, with potential variations based on location and lab fees.
Is home sample collection available?
Yes, DNA Labs India offers free home sample collection across many cities in India for online bookings.
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 indicate?
Results show whether a pathogenic mutation in the DIAPH3 gene is present, confirming genetic auditory neuropathy if positive.
Can children undergo this test?
Yes, the test is suitable for all ages, but genetic counseling is recommended for minors to understand implications.
Is the test covered by insurance?
Coverage varies; it is not universally covered. Check with your insurance provider for specific details.
What should I do after receiving the test results?
Consult a genetic counselor or specialist to interpret results, discuss management options, and consider family planning if needed.
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

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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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