PNPT1 Gene Deafness, autosomal recessive type 70 NGS Genetic Test
Short Name: PNPT1 Gene Deafness NGS Test
Also known as: DFNB70 Deafness, PNPT1 Gene Mutation Test
PNPT1 Gene Deafness, autosomal recessive type 70 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 PNPT1 Gene Deafness NGS Genetic Test is to accurately diagnose mutations in the PNPT1 gene associated with autosomal recessive deafness type 70 (DFNB70). This test helps identify the genetic cause of hearing loss, enabling personalized medical management, informed family planning, and access to appropriate therapeutic interventions.
- Test Code
- 4745
- 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. Provide clinical history and family pedigree information during genetic counseling.
Laboratory Analysis
A blood sample will be collected via venipuncture or a drop on FTA card by a trained phlebotomist.
Report Delivery
Apply pressure to the puncture site to prevent bleeding. Store sample as instructed for stability.
Timeline: 3 to 4 Weeks
Patient Instructions
About This Test
Who Should Get This Test
The purpose of the PNPT1 Gene Deafness NGS Genetic Test is to accurately diagnose mutations in the PNPT1 gene associated with autosomal recessive deafness type 70 (DFNB70). This test helps identify the genetic cause of hearing loss, enabling personalized medical management, informed family planning, and access to appropriate therapeutic interventions.
How to Prepare
- Ensure proper identification and labeling of the sample
- Use sterile collection tubes or FTA cards as specified
- Transport sample to the lab at ambient room temperature
Doctor's Notes
Reviewed by Dr SULOCHANA HEMCHANDRA HOLLA — MBBS, MD (Medical Genetics) · Reg. No. 8532
"Genetic testing for hereditary deafness aids in early diagnosis and management. Consult a genetic counselor for personalized advice and family planning."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Hemolyzed or clotted blood samples
- Insufficient sample volume
- Improperly labeled or contaminated samples
Understanding Your Results
Positive for pathogenic variant
Confirms diagnosis of PNPT1 gene-related deafness (DFNB70). Genetic counseling and management recommended.
Negative for pathogenic variant
No mutations detected in PNPT1 gene. Consider other genetic or non-genetic causes of deafness.
Variant of uncertain significance (VUS)
Further testing and family studies may be needed for clarification.
Consult a doctor or genetic counselor if you experience symptoms of hearing loss, have a family history of genetic deafness, or receive positive or uncertain test results for guidance on management and next steps.
Limitations
- ⚠May not detect all possible genetic variants or mutations
- ⚠Requires genetic counseling for proper interpretation
- ⚠Results should be correlated with clinical findings and family history
Risks & Considerations
- ●Minimal risk from blood draw, such as slight pain or bruising
- ●Psychological impact of genetic results may require counseling
Interfering Factors
- ●Contaminated or degraded DNA samples
- ●Improper sample storage or handling
- ●Recent blood transfusions may affect results
Compare With Similar Tests
| Test | PNPT1 Gene Deafness, autosomal recessive type 70 NGS Genetic Test | GJB2 Gene Deafness Test | SLC26A4 Gene Test | TMC1 Gene Test | OTOF Gene Test |
|---|---|---|---|---|---|
| Comparison | PNPT1 Gene Deafness, autosomal recessive type 70 NGS Genetic Test |
Frequently Asked Questions
What is PNPT1 gene deafness?
How is the PNPT1 gene deafness test performed?
What is the cost of the PNPT1 gene deafness NGS genetic test?
Who should consider this genetic test?
What are the symptoms of PNPT1 gene deafness?
How long does it take to get the test results?
Is home sample collection available for this test?
What sample type is required for the test?
Is fasting required before the test?
What does a positive test result mean?
Can this test detect all types of genetic deafness?
Is genetic counseling included with 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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