GSDME Gene Deafness, autosomal dominant type 5 NGS Genetic Test
Short Name: GSDME DFNA5 NGS Test
Also known as: DFNA5, GSDME Deafness, Autosomal Dominant Deafness Type 5
GSDME Gene Deafness, autosomal dominant type 5 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 Results are typically available within 3 to 4 weeks after sample collection.. 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 GSDME Gene Deafness, Autosomal Dominant Type 5 NGS Genetic Test is to identify mutations in the GSDME gene that cause hereditary hearing loss. This test aids in accurate diagnosis, differentiates DFNA5 from other forms of deafness, and provides information for genetic counseling, treatment planning, and family risk assessment.
- Test Code
- 2313
- Price
- ₹20,000
- Sample Type
- Blood or Extracted DNA or One drop Blood on FTA Card
- Result Time
- Results are typically available within 3 to 4 weeks after sample collection.
- Fasting Required
- No
- Method
- NGS Technology
Sample Collection
A genetic counseling session is recommended to draw a pedigree chart of affected family members. Provide clinical history of the patient, including hearing loss details and family history. No fasting is required.
Method: Venipuncture
Laboratory Analysis
Sample collection involves venipuncture to draw blood or using an FTA card for one drop of blood. The process is quick and minimally invasive.
Report Delivery
After collection, the sample is labeled, stored at ambient room temperature, and transported to the lab for NGS analysis. Post-test counseling may be arranged for result discussion.
Timeline: Results are typically available within 3 to 4 weeks after sample collection.
Patient Instructions
About This Test
Who Should Get This Test
The purpose of the GSDME Gene Deafness, Autosomal Dominant Type 5 NGS Genetic Test is to identify mutations in the GSDME gene that cause hereditary hearing loss. This test aids in accurate diagnosis, differentiates DFNA5 from other forms of deafness, and provides information for genetic counseling, treatment planning, and family risk assessment.
How to Prepare
- Ensure patient is relaxed and hydrated
- Use sterile equipment for blood draw
- Label samples accurately with patient details
- Store blood samples at room temperature; for FTA cards, follow specific instructions
Doctor's Notes
Reviewed by Dr SULOCHANA HEMCHANDRA HOLLA — MBBS, MD (Medical Genetics) · Reg. No. 8532
"This NGS genetic test is essential for diagnosing hereditary hearing loss caused by GSDME gene mutations, aiding in early management and genetic counseling for affected families."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Hemolyzed or clotted blood samples
- Improperly labeled or contaminated samples
- Insufficient sample volume
- Expired collection tubes or FTA cards
Understanding Your Results
Pathogenic variant detected
Confirms diagnosis of DFNA5, indicating autosomal dominant deafness due to GSDME mutation. Genetic counseling recommended.
Likely pathogenic variant detected
Suggests high probability of DFNA5; clinical correlation and family testing advised.
Variant of uncertain significance
Further investigation needed; may require family segregation studies or additional genetic tests.
No pathogenic variant detected
GSDME gene mutations not found; consider other genetic or non-genetic causes of hearing loss.
Consult a doctor if you or a family member experience progressive hearing loss, tinnitus, difficulty hearing in noise, or have a family history of deafness. Seek genetic counseling after a positive test result for management and family planning.
Limitations
- ⚠May not detect all types of mutations, such as large deletions or rearrangements
- ⚠Does not assess other genes associated with hearing loss
- ⚠Results require interpretation by a geneticist and clinical correlation
- ⚠Turnaround time of 3-4 weeks may not be suitable for urgent cases
Risks & Considerations
- ●Minimal risks from blood draw, such as bruising or discomfort
- ●Psychological impact of genetic test results; counseling available
- ●No significant physical risks from NGS testing itself
Interfering Factors
- ●Poor sample quality or contamination
- ●Insufficient DNA quantity
- ●Hemolyzed blood samples
- ●Recent blood transfusions
Frequently Asked Questions
What is GSDME Gene Deafness, autosomal dominant type 5?
What are the common symptoms of GSDME Gene Deafness?
How is GSDME Gene Deafness diagnosed?
What is the cost of the GSDME Gene Deafness NGS Genetic Test?
Is home sample collection available for this test?
How long does it take to get the test results?
What sample type is required for the test?
Does the test require fasting?
What should I do if I have a family history of deafness?
How accurate is the NGS Genetic Test for GSDME mutations?
Can this test be used for prenatal diagnosis?
What if the test results are negative?
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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.
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