DIAPH1 Gene Deafness, autosomal dominant type 1 NGS Genetic Test
Short Name: DIAPH1 Gene Deafness NGS Test
Also known as: DIAPH1 Gene Mutation Test, Autosomal Dominant Hearing Loss Genetic Test, Hereditary Deafness DIAPH1 Test
DIAPH1 Gene Deafness, autosomal dominant type 1 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. 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 DIAPH1 Gene Deafness NGS Genetic Test is to diagnose autosomal dominant deafness type 1 by identifying pathogenic mutations in the DIAPH1 gene. This helps in confirming hereditary hearing loss, assessing carrier status for family members, guiding treatment options, and informing genetic counseling for reproductive planning.
- Test Code
- 2289
- 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
- NGS Technology
Sample Collection
No specific preparation required, but provide clinical history and family pedigree information.
Method: Venipuncture
Laboratory Analysis
A blood sample is drawn via venipuncture or a saliva sample is collected, following standard phlebotomy procedures.
Report Delivery
Apply pressure to the puncture site to prevent bruising. Store samples as per lab instructions.
Timeline: 3 to 4 Weeks
Patient Instructions
About This Test
Who Should Get This Test
The purpose of the DIAPH1 Gene Deafness NGS Genetic Test is to diagnose autosomal dominant deafness type 1 by identifying pathogenic mutations in the DIAPH1 gene. This helps in confirming hereditary hearing loss, assessing carrier status for family members, guiding treatment options, and informing genetic counseling for reproductive planning.
How to Prepare
- Ensure patient ID is verified
- Use sterile collection kits
- Label samples correctly
- Transport at ambient temperature if specified
Doctor's Notes
Reviewed by Dr SULOCHANA HEMCHANDRA HOLLA — MBBS, MD (Medical Genetics) · Reg. No. 8532
"Genetic testing for deafness-related genes like DIAPH1 is essential for early diagnosis, family planning, and management. Consult a genetic counselor for personalized advice."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Hemolyzed or contaminated sample
- Insufficient sample volume
- Incorrect labeling or missing information
Understanding Your Results
Pathogenic variant detected
Confirms autosomal dominant deafness type 1; genetic counseling recommended.
No pathogenic variant detected
Reduces likelihood of DIAPH1-related deafness; consider other genetic tests if symptoms persist.
Variant of uncertain significance
Further testing or family studies may be needed; consult a genetic counselor.
If you experience sudden hearing loss, have a family history of deafness, or receive a positive genetic test result, consult an ENT specialist or genetic counselor promptly.
Limitations
- ⚠May not detect all rare or novel mutations in DIAPH1 gene
- ⚠Not diagnostic for other types of deafness
- ⚠Results require correlation with clinical history
- ⚠Genetic counseling recommended for interpretation
Risks & Considerations
- ●Minimal risk from blood draw (e.g., bruising, infection)
- ●Emotional impact of genetic results
- ●Potential for uncertain findings requiring further testing
Interfering Factors
- ●Contaminated DNA sample
- ●Improper sample storage or handling
- ●Recent blood transfusion affecting DNA
- ●Technical errors in NGS sequencing
Compare With Similar Tests
| Test | DIAPH1 Gene Deafness, autosomal dominant type 1 NGS Genetic Test | GJB2 Gene Deafness Test | SLC26A4 Gene Test | Comprehensive Hearing Loss Panel |
|---|---|---|---|---|
| Comparison | DIAPH1 Gene Deafness, autosomal dominant type 1 NGS Genetic Test |
Frequently Asked Questions
What is DIAPH1 gene deafness?
How is the NGS genetic test performed?
What is the cost of this test in India?
Is the test covered by insurance?
What are the symptoms of DIAPH1 gene deafness?
Can carriers of the gene mutation be asymptomatic?
How long does it take to get results?
What sample types are accepted?
Is genetic counseling recommended?
Where is home sample collection available?
What should I do if I test positive?
Are there any risks to 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.
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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