TECTA Gene Deafness, autosomal dominant type 12 NGS Genetic Test
Short Name: TECTA AD Deafness Type 12
Also known as: DFNA12 Genetic Test, TECTA-Related Hearing Loss Test, Autosomal Dominant Deafness Type 12 NGS Test, TECTA Gene Mutation Analysis, Alpha-Tectorin Gene Sequencing
TECTA Gene Deafness, autosomal dominant type 12 NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses Next-Generation Sequencing (NGS), Sanger Sequencing (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 from sample receipt at the laboratory. 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 primary purpose of this test is to confirm a molecular diagnosis of autosomal dominant non-syndromic hearing loss type 12 (DFNA12) caused by mutations in the TECTA gene. It enables early identification of the genetic cause of hearing loss, facilitates appropriate clinical management, supports genetic counselling for affected families, informs reproductive decision-making, and aids in predicting disease progression and prognosis.
- Test Code
- 2298
- 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 from sample receipt at the laboratory
- Fasting Required
- No
- Method
- Next-Generation Sequencing (NGS), Sanger Sequencing (confirmation if required), Bioinformatics Variant Analysis
Sample Collection
No special preparation or fasting is required. Please bring a valid government-issued photo ID and the clinician's referral or prescription. Provide a detailed clinical history and family pedigree information if available. A genetic counselling session is recommended prior to sample collection.
Method: Venipuncture
Laboratory Analysis
A trained phlebotomist will collect 3-5 mL of venous blood in an EDTA vacutainer. Alternatively, a single drop of blood on an FTA card or pre-extracted DNA may be submitted. The procedure typically takes less than 10 minutes.
Report Delivery
Apply gentle pressure to the puncture site with cotton for 3-5 minutes. The sample will be transported under controlled conditions to the DNA Labs India testing facility. Avoid strenuous activity with the punctured arm for a few hours.
Timeline: 3 to 4 Weeks from sample receipt at the laboratory
Patient Instructions
About This Test
Who Should Get This Test
The primary purpose of this test is to confirm a molecular diagnosis of autosomal dominant non-syndromic hearing loss type 12 (DFNA12) caused by mutations in the TECTA gene. It enables early identification of the genetic cause of hearing loss, facilitates appropriate clinical management, supports genetic counselling for affected families, informs reproductive decision-making, and aids in predicting disease progression and prognosis.
How to Prepare
- Blood should be collected in an EDTA (lavender top) vacutainer under aseptic conditions
- Gently invert the tube 8-10 times immediately after collection to prevent clotting
- Label the sample clearly with patient name, date of birth, and unique identification number
- Store the sample at 2-8°C if transport is delayed beyond 24 hours
- For FTA card collection, allow the blood spot to air-dry completely before packaging
- Include the signed consent form and clinical history form with the sample
Doctor's Notes
Reviewed by Dr SULOCHANA HEMCHANDRA HOLLA — MBBS, MD (Medical Genetics) · Reg. No. 8532
"Autosomal dominant deafness type 12 caused by TECTA gene mutations presents with sensorineural hearing loss that can range from mild to profound. Early genetic diagnosis allows for timely intervention including hearing aids, cochlear implant planning, and genetic counselling for family members. I recommend this test for any patient with a family history of non-syndromic hearing loss consistent with autosomal dominant inheritance pattern."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Sample received without proper identification or labelling
- Clotted, haemolysed, or insufficient sample volume
- Sample collected in incorrect container (e.g., heparin tube instead of EDTA)
- Missing consent form or clinical history
- Sample received beyond stability limits
Understanding Your Results
Pathogenic Variant Detected
A known disease-causing mutation in the TECTA gene has been identified. This confirms the diagnosis of autosomal dominant deafness type 12 (DFNA12). Genetic counselling is recommended for the patient and family members.
Action: Refer to clinical geneticist and ENT specialist for management planning. Offer cascade testing to at-risk family members.
Likely Pathogenic Variant Detected
A variant strongly suspected to be disease-causing has been found based on available evidence. Clinical correlation and family segregation studies are advised.
Action: Genetic counselling recommended. Consider segregation analysis in family members for confirmation.
Variant of Uncertain Significance (VUS)
A variant was identified but current evidence is insufficient to classify it as pathogenic or benign. This result alone cannot confirm or rule out the diagnosis.
Action: Clinical correlation essential. Re-evaluation may be possible as new evidence emerges. Family studies may help clarify significance.
Likely Benign or Benign Variant
The variant identified is considered unlikely to be the cause of the patient's hearing loss.
Action: Consider other genetic or non-genetic causes of hearing loss. Discuss further testing options with clinician.
No Pathogenic Variant Detected
No clinically significant variants were identified in the TECTA gene. This result does not exclude a genetic cause of hearing loss as mutations in other genes may be responsible.
Action: Consider expanded gene panel testing or whole exome sequencing. Clinical and audiometric follow-up recommended.
Consult your ENT specialist or clinical geneticist if you or a family member experiences progressive hearing loss, difficulty understanding speech, tinnitus, or balance problems, especially if there is a family history of hearing loss. Early diagnosis through genetic testing can guide treatment decisions, help plan for hearing rehabilitation (including cochlear implants), and provide important information for family planning.
Limitations
- ⚠This test specifically targets the TECTA gene; mutations in other genes associated with hearing loss will not be detected
- ⚠Deep intronic mutations or large structural variants beyond the detection range of NGS may not be identified
- ⚠Variants of uncertain significance (VUS) may be reported and may require further familial segregation studies
- ⚠This test does not rule out environmental or non-genetic causes of hearing loss
- ⚠Results should be interpreted in conjunction with clinical findings, audiometric data, and family history
Risks & Considerations
- ●Minimal risk associated with blood draw — may include slight bruising or discomfort at the puncture site
- ●Psychological impact of genetic diagnosis — genetic counselling is recommended before and after testing
- ●Potential identification of variants of uncertain significance that may cause anxiety without providing definitive answers
Interfering Factors
- ●Degraded or insufficient DNA quality from the sample
- ●Recent blood transfusion within the past 30 days may affect results
- ●Contamination of the sample during collection or transport
- ●Presence of mosaicism may limit detection sensitivity
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Frequently Asked Questions
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