ESPN Gene Deafness, autosomal recessive type 36 NGS Genetic Test
Short Name: ESPN Gene Deafness AR Type 36 NGS Test
Also known as: Autosomal Recessive Deafness Type 36, ESPN Gene Mutation Test, ESPN-Related Hearing Loss Test
ESPN Gene Deafness, autosomal recessive type 36 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 ESPN Gene Deafness NGS Genetic Test is to confirm a clinical diagnosis of autosomal recessive type 36 deafness by identifying pathogenic mutations in the ESPN gene. This test aids in understanding the genetic basis of hearing loss, guiding treatment strategies, and enabling family risk assessment.
- Test Code
- 4732
- 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, but genetic counseling is recommended prior to testing.
Method: Venipuncture
Laboratory Analysis
A blood sample will be drawn by a trained phlebotomist using standard venipuncture techniques.
Report Delivery
Apply pressure to the puncture site to prevent bruising. Resume normal activities unless advised otherwise.
Timeline: 3-4 weeks
Patient Instructions
About This Test
Who Should Get This Test
The purpose of the ESPN Gene Deafness NGS Genetic Test is to confirm a clinical diagnosis of autosomal recessive type 36 deafness by identifying pathogenic mutations in the ESPN gene. This test aids in understanding the genetic basis of hearing loss, guiding treatment strategies, and enabling family risk assessment.
How to Prepare
- Ensure proper identification of the patient
- Use sterile collection equipment
- Label samples accurately with patient details
- Transport samples at ambient room temperature
Doctor's Notes
Reviewed by Dr SULOCHANA HEMCHANDRA HOLLA — MBBS, MD (Medical Genetics) · Reg. No. 8532
"Genetic testing for ESPN gene deafness is crucial for early intervention, family planning, and personalized management of hearing loss."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Hemolyzed or clotted samples
- Insufficient sample volume
- Incorrect labeling or missing patient information
Understanding Your Results
No pathogenic variants detected
Normal finding; ESPN gene mutation not identified. Consider other genetic or non-genetic causes of hearing loss.
Pathogenic variant(s) detected
Confirms diagnosis of ESPN gene deafness. Genetic counseling recommended for management and family testing.
Variant of Uncertain Significance (VUS)
Further testing or family studies may be needed to clarify significance. Consult a genetic specialist.
Consult a healthcare professional or genetic counselor if you experience symptoms of hearing loss, have a family history of deafness, or receive abnormal test results for personalized guidance.
Limitations
- ⚠May not detect all possible ESPN gene variants
- ⚠Results require interpretation by a genetic counselor
- ⚠Does not rule out other genetic causes of deafness
Risks & Considerations
- ●Minimal risks from blood draw, such as slight pain, bruising, or infection at the puncture site
Interfering Factors
- ●Sample contamination
- ●Degraded DNA quality
- ●Incorrect sample storage or handling
Compare With Similar Tests
| Test | ESPN Gene Deafness, autosomal recessive type 36 NGS Genetic Test | GJB2 Gene Deafness Test | Comprehensive Hearing Loss Panel | Mitochondrial DNA Testing for Deafness | Whole Exome Sequencing for Hearing Loss |
|---|---|---|---|---|---|
| Comparison | ESPN Gene Deafness, autosomal recessive type 36 NGS Genetic Test |
Frequently Asked Questions
What is ESPN gene deafness?
How is the ESPN gene deafness test performed?
What are the symptoms of ESPN gene deafness?
Who should consider getting this genetic test?
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Is home sample collection available for this test?
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Can this test be used for prenatal diagnosis?
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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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