USH1C Gene Deafness, autosomal recessive type 18 NGS Genetic Test
Short Name: USH1C Gene Deafness Test
Also known as: Autosomal Recessive Deafness Type 18, DFNB18, Usher Syndrome Type 1C related deafness
USH1C Gene Deafness, autosomal recessive type 18 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 to 4 weeks from sample receipt. 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 USH1C Gene Deafness NGS Genetic Test is to identify mutations in the USH1C gene that cause autosomal recessive deafness type 18. This test helps in confirming the diagnosis of the condition, understanding its severity, and informing treatment and management strategies. It is also useful for carrier testing and prenatal diagnosis in families at risk.
- Test Code
- 2333
- Price
- ₹20,000
- Sample Type
- Blood or Extracted DNA or One drop Blood on FTA Card
- Result Time
- 3 to 4 weeks from sample receipt
- Fasting Required
- No
- Method
- Next Generation Sequencing (NGS)
Sample Collection
No special preparation required. Ensure to provide accurate clinical and family history.
Method: Venipuncture or FTA Card spotting
Laboratory Analysis
A blood sample will be collected via venipuncture or a blood spot on FTA card. The procedure is quick and minimally invasive.
Report Delivery
Apply pressure to the puncture site to stop bleeding. Keep the area clean. Resume normal activities.
Timeline: 3 to 4 weeks from sample receipt
Patient Instructions
About This Test
Who Should Get This Test
The purpose of the USH1C Gene Deafness NGS Genetic Test is to identify mutations in the USH1C gene that cause autosomal recessive deafness type 18. This test helps in confirming the diagnosis of the condition, understanding its severity, and informing treatment and management strategies. It is also useful for carrier testing and prenatal diagnosis in families at risk.
How to Prepare
- Fasting is not required
- Bring valid ID and prescription if any
- Wear comfortable clothing for easy access to arm
- Inform the phlebotomist of any bleeding disorders or medications
Doctor's Notes
Reviewed by Dr SULOCHANA HEMCHANDRA HOLLA — MBBS, MD (Medical Genetics) · Reg. No. 8532
"Genetic testing is crucial for early diagnosis and management of hereditary deafness, allowing for informed family planning and intervention."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Hemolyzed or clotted sample
- Insufficient sample volume
- Incorrect sample type
- Unlabeled or mislabeled samples
Understanding Your Results
No pathogenic variants detected
No mutations known to cause USH1C-related deafness were found. However, this does not completely rule out genetic deafness due to other genes or undetected variants.
Action: Consider other genetic tests if clinical suspicion remains.
Pathogenic variant(s) detected
Mutations in the USH1C gene were identified, confirming the diagnosis of autosomal recessive deafness type 18. The specific variants may provide information about disease severity and associated symptoms.
Action: Genetic counseling is recommended to discuss implications, management, and family testing.
Variant of uncertain significance (VUS) detected
A genetic variant was found, but its clinical significance is not yet determined. Further testing or family studies may be needed.
Action: Consult with a genetic counselor for guidance on next steps.
Consult a genetic specialist or ENT doctor if the test results indicate pathogenic variants, if there are variants of uncertain significance, or if there is a family history of genetic deafness or Usher syndrome. Early consultation can help in planning management and interventions.
Limitations
- ⚠May not detect all genetic variants due to technical limitations
- ⚠Variants of uncertain significance (VUS) may be reported
- ⚠Results require interpretation by a genetic counselor or specialist
- ⚠Does not rule out other genetic causes of hearing loss
Risks & Considerations
- ●Minimal risk associated with blood draw: bruising, infection, or fainting
- ●Psychological impact of genetic results
- ●Risk of identifying variants of uncertain significance leading to anxiety
Interfering Factors
- ●Sample contamination
- ●Degraded DNA quality
- ●Recent blood transfusion may affect results
- ●Incorrect sample handling
Compare With Similar Tests
| Test | USH1C Gene Deafness, autosomal recessive type 18 NGS Genetic Test | GJB2 Gene Deafness NGS Genetic Test | Usher Syndrome Comprehensive Panel | Hearing Loss Expanded Panel | Retinitis Pigmentosa Genetic Test |
|---|---|---|---|---|---|
| Comparison | USH1C Gene Deafness, autosomal recessive type 18 NGS Genetic Test |
Frequently Asked Questions
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