COCH Gene Deafness, autosomal dominant type 9 NGS Genetic Test
Short Name: COCH Gene DFNA9 NGS Test
Also known as: DFNA9 Genetic Test, COCH Gene Mutation Analysis, Autosomal Dominant Deafness Type 9 Test, Cochlin Gene Sequencing Test, COCH NGS Panel Test
COCH Gene Deafness, autosomal dominant type 9 NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses Next-Generation Sequencing (NGS), Sanger Confirmation (if required), Bioinformatics Analysis on Blood or Extracted DNA or One Drop Blood on FTA Card samples. Results in Results are typically available within 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 COCH Gene Deafness DFNA9 NGS Genetic Test is performed to identify pathogenic mutations in the COCH gene that cause autosomal dominant sensorineural hearing loss type 9. This test aids in confirming a clinical diagnosis of DFNA9, differentiating it from other genetic and non-genetic causes of hearing loss, determining carrier status, enabling accurate genetic counseling for affected families, assessing recurrence risk in offspring, and guiding clinical management including audiological rehabilitation and vestibular monitoring.
- Test Code
- 2325
- ICD Code
- H90.3
- 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 from sample receipt at the laboratory.
- Fasting Required
- No
- Method
- Next-Generation Sequencing (NGS), Sanger Confirmation (if required), Bioinformatics Analysis
Sample Collection
No special preparation such as fasting is required. Inform the healthcare provider about any recent blood transfusions, current medications, and provide detailed clinical and family history. A pre-test genetic counseling session is recommended to draw a pedigree chart of family members affected with hearing loss.
Method: Venipuncture
Laboratory Analysis
A trained phlebotomist will collect 3–5 mL of venous blood into an EDTA vacutainer, or alternatively collect one drop of blood on an FTA card. The procedure typically takes 5–10 minutes and involves minimal discomfort.
Report Delivery
Apply pressure to the puncture site with sterile gauze for 3–5 minutes. Mild bruising may occur and typically resolves within a few days. The sample is transported under controlled ambient temperature conditions to the laboratory for DNA extraction and sequencing.
Timeline: Results are typically available within 3 to 4 weeks from sample receipt at the laboratory.
Patient Instructions
About This Test
Who Should Get This Test
The COCH Gene Deafness DFNA9 NGS Genetic Test is performed to identify pathogenic mutations in the COCH gene that cause autosomal dominant sensorineural hearing loss type 9. This test aids in confirming a clinical diagnosis of DFNA9, differentiating it from other genetic and non-genetic causes of hearing loss, determining carrier status, enabling accurate genetic counseling for affected families, assessing recurrence risk in offspring, and guiding clinical management including audiological rehabilitation and vestibular monitoring.
How to Prepare
- Ensure patient identity is verified and labeled on the sample tube and requisition form.
- Collect 3–5 mL whole blood in an EDTA (lavender top) vacutainer or one drop on an FTA card.
- Gently invert the tube 8–10 times immediately after collection to mix with anticoagulant.
- Do not freeze the blood sample. Store and transport at ambient room temperature (15–30°C).
- Include completed test requisition form with clinical history and family pedigree information.
Doctor's Notes
Reviewed by Dr SULOCHANA HEMCHANDRA HOLLA — MBBS, MD (Medical Genetics) · Reg. No. 8532
"DFNA9 is a significant cause of adult-onset progressive sensorineural hearing loss. Patients presenting with bilateral asymmetric high-frequency hearing loss and a family history consistent with autosomal dominant inheritance should be evaluated with COCH gene testing. Early genetic confirmation allows for timely audiological rehabilitation, vestibular monitoring, and informed family counseling. Advancements in NGS technology have made comprehensive gene analysis more accessible, enabling precise molecular diagnosis that guides long-term clinical management and future therapeutic planning."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Clotted or hemolyzed blood samples
- Samples without proper labeling or identification
- Samples received after 72 hours of collection without prior arrangement
- Insufficient sample volume (less than 2 mL)
- Samples without completed requisition form or clinical information
Understanding Your Results
Pathogenic Variant Detected (Positive)
A known pathogenic mutation in the COCH gene has been identified. This confirms the molecular diagnosis of DFNA9 in the context of compatible clinical findings. The patient is expected to experience progressive sensorineural hearing loss and may develop vestibular symptoms. Genetic counseling for family members and offspring is recommended.
Likely Pathogenic Variant Detected
A variant likely to be disease-causing has been identified in the COCH gene. Clinical correlation with audiometric data and family history is advised. Additional family studies may help confirm pathogenicity.
Variant of Uncertain Significance (VUS)
A genetic variant was detected whose clinical significance is currently unknown. This result is not diagnostic. Further evaluation including family segregation analysis, functional studies, or re-analysis at a later date when additional data becomes available may be warranted.
Likely Benign Variant Detected
A variant was detected that is unlikely to be the cause of the patient's hearing loss. Clinical correlation is advised and no specific follow-up for this variant is typically necessary.
No Pathogenic Variant Detected (Negative)
No pathogenic or likely pathogenic variants were identified in the COCH gene. This result does not exclude all genetic causes of hearing loss. Clinical evaluation for other genetic or non-genetic etiologies is recommended. A comprehensive hearing loss gene panel may be considered.
Consult an ENT specialist or clinical geneticist if you experience progressive hearing difficulty especially in high-frequency ranges, have a family history of hereditary hearing loss, develop new or worsening tinnitus, experience episodes of vertigo or balance problems, or if a genetic test result returns as positive or a variant of uncertain significance requiring further evaluation.
Limitations
- ⚠This test targets the COCH gene only and does not screen for mutations in other hearing-loss-associated genes such as GJB2 or SLC26A4.
- ⚠Deep intronic mutations and large genomic rearrangements may not be reliably detected by standard NGS protocols.
- ⚠Detection of a variant of uncertain significance (VUS) may require additional family studies or functional analysis for definitive classification.
- ⚠A negative result does not exclude all genetic causes of hearing loss.
- ⚠This test is not validated for prenatal diagnosis.
Risks & Considerations
- ●Minor bruising or discomfort at the blood draw site, which usually resolves within a few days
- ●Small risk of infection at the puncture site (extremely rare with standard phlebotomy procedures)
- ●Possible emotional or psychological impact upon receiving genetic test results, particularly a positive diagnosis
- ●Risk of receiving a variant of uncertain significance (VUS) that may cause anxiety without providing a definitive answer
Interfering Factors
- ●Degraded or insufficient DNA quality from the sample
- ●Recent blood transfusion within the past 30 days may affect results
- ●Contamination during sample collection or transport
- ●Hemolyzed or clotted blood samples may reduce DNA yield
Compare With Similar Tests
| Test | COCH Gene Deafness, autosomal dominant type 9 NGS Genetic Test | GJB2 (Connexin 26) Gene Test | SLC26A4 (Pendrin) Gene Test | Comprehensive Hearing Loss Gene Panel | TMC1 Gene Deafness NGS Test |
|---|---|---|---|---|---|
| Comparison | COCH Gene Deafness, autosomal dominant type 9 NGS Genetic Test |
Frequently Asked Questions
What is COCH Gene Deafness (DFNA9)?
How is DFNA9 inherited?
What are the symptoms of COCH gene deafness?
At what age does DFNA9 hearing loss typically begin?
How is the COCH Gene NGS Genetic Test performed?
What sample is required for the COCH gene test?
How long does it take to get the COCH gene test results?
Is the COCH gene test covered by insurance in India?
Can DFNA9 be treated or cured?
Who should consider getting the COCH gene test?
Does DNA Labs India offer free home sample collection for this test?
What is the cost of the COCH Gene Deafness NGS Genetic Test in India?
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