TMC1 Gene Deafness, autosomal dominant type 36 NGS Genetic Test
Short Name: TMC1 DFNA36 NGS Test
Also known as: DFNA36 Genetic Test, TMC1 Gene Sequencing Test, TMC1 Hearing Loss Test, Autosomal Dominant Deafness 36 NGS Test, TMC1 Mutation Analysis
TMC1 Gene Deafness, autosomal dominant type 36 NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses Next-Generation Sequencing (NGS), Sanger Confirmation (if required), Bioinformatics Variant Analysis 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 TMC1 Gene Deafness, Autosomal Dominant Type 36 NGS Genetic Test is to identify pathogenic or likely pathogenic mutations in the TMC1 gene that cause autosomal dominant sensorineural hearing loss (DFNA36). This test enables definitive molecular diagnosis of hereditary hearing loss, guides clinical management decisions including hearing aid fitting or cochlear implantation, facilitates genetic counseling for affected families, supports carrier identification and family planning, and contributes to a better understanding of the genetic basis of hearing impairment in the Indian population.
- Test Code
- 2309
- CPT Code
- 81479
- ICD Code
- H90.3
- 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
- Next-Generation Sequencing (NGS), Sanger Confirmation (if required), Bioinformatics Variant Analysis
Sample Collection
Genetic counseling session is recommended before sample collection to draw a detailed pedigree chart of family members affected with hearing loss. Provide clinical history of the patient including age of onset, progression of hearing loss, family history, and any previous audiometric or genetic test results. No fasting is required.
Method: Venipuncture / FTA Card Spot
Laboratory Analysis
A peripheral blood sample of 3–5 mL is collected by venipuncture into an EDTA (lavender-top) vacutainer. Alternatively, one drop of blood can be applied to an FTA card. Ensure proper labeling with patient details and date of collection.
Report Delivery
The sample is transported to the laboratory under ambient room temperature conditions. Results are typically available within 3 to 4 weeks. The clinical report along with raw data files (FASTQ and VCF) will be shared via online portal, email, or WhatsApp.
Timeline: 3 to 4 Weeks
Patient Instructions
About This Test
Who Should Get This Test
The purpose of the TMC1 Gene Deafness, Autosomal Dominant Type 36 NGS Genetic Test is to identify pathogenic or likely pathogenic mutations in the TMC1 gene that cause autosomal dominant sensorineural hearing loss (DFNA36). This test enables definitive molecular diagnosis of hereditary hearing loss, guides clinical management decisions including hearing aid fitting or cochlear implantation, facilitates genetic counseling for affected families, supports carrier identification and family planning, and contributes to a better understanding of the genetic basis of hearing impairment in the Indian population.
How to Prepare
- Collect 3–5 mL of peripheral venous blood in an EDTA (Lavender Top) vacutainer.
- Alternatively, apply one drop of blood to the provided FTA card and allow it to dry completely.
- Label the sample clearly with patient name, date of birth, date of collection, and unique sample ID.
- Do not use heparin-containing tubes as heparin can interfere with downstream molecular assays.
- Transport the sample at ambient room temperature. Avoid extreme heat or cold exposure.
- Ensure sample reaches the laboratory within 48 hours of collection for optimal DNA quality.
Doctor's Notes
Reviewed by Dr SULOCHANA HEMCHANDRA HOLLA — MBBS, MD (Medical Genetics) · Reg. No. 8532
"Progressive hearing loss beginning in childhood or adolescence should prompt evaluation for genetic causes. The TMC1 gene is a well-established gene linked to autosomal dominant deafness type 36 (DFNA36). Next-generation sequencing (NGS) offers a highly accurate and comprehensive method to detect pathogenic variants in the TMC1 gene. Early genetic diagnosis enables appropriate audiological management, family planning counseling, and timely intervention with hearing aids or cochlear implants to optimize patient outcomes."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Sample collected in heparin anticoagulant tube
- Hemolyzed, clotted, or insufficient volume sample
- Sample without proper labeling or identification
- Sample received more than 48 hours post-collection at ambient temperature without refrigeration
- FTA card with incomplete blood application or visible contamination
Understanding Your Results
Pathogenic or Likely Pathogenic Variant Detected
A mutation known to cause DFNA36 has been identified. The patient likely has or will develop progressive sensorineural hearing loss. Genetic counseling for the family is recommended. Audiological monitoring and intervention (hearing aids, cochlear implants) should be planned.
Variant of Uncertain Significance (VUS) Detected
A variant in the TMC1 gene was identified, but its clinical significance is currently unknown. This result is not diagnostic. Periodic reclassification as new data becomes available is recommended. Clinical correlation and family segregation studies may help clarify significance.
No Pathogenic Variant Detected (Negative)
No pathogenic or likely pathogenic variants were identified in the TMC1 gene. This result does not completely exclude a genetic cause of hearing loss, as mutations in other genes may be responsible. A comprehensive hearing loss gene panel or additional testing may be considered.
Consult an ENT specialist or audiologist if you or your child experience progressive hearing loss, difficulty hearing high-pitched sounds, trouble understanding speech in noisy environments, or persistent tinnitus. Seek genetic counseling if there is a family history of hereditary hearing loss, if you are planning a family and carry a known TMC1 mutation, or if you need help interpreting the genetic test results. Early consultation is especially important for children, as timely intervention can significantly improve language development and quality of life.
Limitations
- ⚠This test targets only the TMC1 gene and does not screen for mutations in other genes associated with hearing loss
- ⚠Deep intronic variants, regulatory region variants, and certain structural rearrangements may not be detected
- ⚠Detection of a variant of uncertain significance (VUS) does not confirm or exclude a diagnosis of DFNA36
- ⚠Mosaicism at low allele frequencies may not be reliably detected
- ⚠Positive results require clinical correlation and genetic counseling for proper interpretation
Risks & Considerations
- ●Minimal risk associated with blood collection: minor bruising, slight pain at the venipuncture site, or very rare infection
- ●Psychological impact of a positive result, including anxiety about progressive hearing loss and implications for family members
- ●Identification of variants of uncertain significance (VUS) may cause uncertainty and require further testing or monitoring
Interfering Factors
- ●Degraded or insufficient DNA quality may affect sequencing accuracy and coverage
- ●Blood samples collected in incorrect anticoagulant tubes (e.g., heparin) may inhibit downstream library preparation
- ●Contamination during sample collection or transport may produce inconclusive results
- ●Recent blood transfusion within 4 weeks prior to sample collection may affect results
Compare With Similar Tests
| Test | TMC1 Gene Deafness, autosomal dominant type 36 NGS Genetic Test | GJB2 (Connexin 26) Gene Deafness Genetic Test | SLC26A4 Gene Pendred Syndrome / DFNB4 NGS Test | Comprehensive Hearing Loss Gene Panel NGS Test | TMC1 Gene Deafness, Autosomal Recessive Type 7/8 NGS Test |
|---|---|---|---|---|---|
| Comparison | TMC1 Gene Deafness, autosomal dominant type 36 NGS Genetic Test |
Frequently Asked Questions
What is the TMC1 Gene Deafness, Autosomal Dominant Type 36 NGS Genetic Test?
What are the symptoms of TMC1 gene deafness (DFNA36)?
Who should get this genetic test?
What sample is required for the TMC1 gene test?
What is the cost of the TMC1 Gene Deafness NGS Genetic Test in India?
How long does it take to get the test results?
Is genetic counseling recommended before and after the test?
Is this genetic test covered by insurance in India?
Can this test be performed on children?
What happens if a TMC1 mutation is detected in my test?
Is there a cure for TMC1 gene deafness?
Does DNA Labs India provide raw data files with the test report?
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