Skip to main content
DNA Labs India

CDH23 Gene Deafness, autosomal recessive type 12 NGS Genetic Test

DNA Labs India | ISO 9001:2015 Certified

CDH23 Gene Deafness, autosomal recessive type 12 NGS Genetic Test

Short Name: CDH23 Deafness NGS Test

Also known as: CDH23 Gene Deafness, Autosomal Recessive Deafness DFNB12, CDH23-Related Hearing Loss

CDH23 Gene Deafness, autosomal recessive type 12 NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses NGS, Next-Generation Sequencing 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.

NGS Genetic Test🏠 Home Collection

✍️ Written By

🩺 Medically Reviewed By

Dr SULOCHANA HEMCHANDRA HOLLA

Dr SULOCHANA HEMCHANDRA HOLLA

Consultant Medical Geneticist · Reg: 8532

Last reviewed: September 7, 2026

Overview

The purpose of the CDH23 Gene Deafness NGS Genetic Test is to accurately diagnose autosomal recessive deafness type 12 by identifying pathogenic mutations in the CDH23 gene. This test aids in confirming clinical diagnoses, differentiating from other causes of hearing loss, guiding treatment options, and facilitating genetic counseling for affected families. It is particularly valuable for individuals with sensorineural hearing loss of unknown etiology, allowing for personalized medical management and early intervention.

Test Code
2320
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
NGS, Next-Generation Sequencing
Step 1

Sample Collection

No specific preparation required. Inform the clinician about any medications or recent medical procedures.

Method: Venipuncture or Finger-prick

Step 2

Laboratory Analysis

A blood sample will be drawn from a vein in the arm or a finger-prick for FTA card collection. The process is quick and minimally invasive.

Step 3

Report Delivery

Apply pressure to the puncture site to prevent bruising. Resume normal activities immediately. Store the sample as instructed for stability.

Timeline: 3 to 4 Weeks from sample receipt at the laboratory.

Patient Instructions

1
Before the Test:Provide a detailed clinical history and family pedigree. Genetic counseling is recommended prior to testing to discuss implications.
2
During the Test:The test involves DNA extraction from the sample, followed by NGS sequencing of the CDH23 gene. The process is automated and requires no patient involvement beyond sample collection.
3
After the Test:Results are reviewed by a geneticist and delivered via secure portal. Follow-up counseling or clinical appointments may be advised based on findings.

About This Test

Who Should Get This Test

The purpose of the CDH23 Gene Deafness NGS Genetic Test is to accurately diagnose autosomal recessive deafness type 12 by identifying pathogenic mutations in the CDH23 gene. This test aids in confirming clinical diagnoses, differentiating from other causes of hearing loss, guiding treatment options, and facilitating genetic counseling for affected families. It is particularly valuable for individuals with sensorineural hearing loss of unknown etiology, allowing for personalized medical management and early intervention.

How to Prepare

  • Ensure proper identification and labeling of samples
  • Use sterile equipment for collection
  • Follow aseptic techniques to avoid contamination
  • Transport samples at ambient temperature unless specified

Doctor's Notes

Reviewed by — MBBS, MD (Medical Genetics) · Reg. No. 8532

"Early genetic diagnosis of CDH23-related deafness can guide management, genetic counseling, and family planning decisions."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
Sample Volume3-5 mL Blood or as required
ContainerEDTA Tube or FTA Card
Collection MethodVenipuncture or Finger-prick

Sample Stability

Blood in EDTA Tube
FTA Card
Sample Rejection Criteria:
  • Hemolyzed or clotted samples
  • Insufficient sample volume
  • Improper labeling or container
  • Contaminated samples
  • Samples stored incorrectly

Understanding Your Results

The interpretation of CDH23 Gene Deafness NGS Genetic Test results involves analyzing detected variants in the CDH23 gene. Positive results indicate pathogenic mutations confirming autosomal recessive deafness type 12, while negative results suggest no detectable mutations, though other genetic causes may exist. Genetic counseling is recommended to understand implications.
📊

Positive (Pathogenic Variants Detected)

Confirms diagnosis of CDH23-related deafness; enables targeted management and genetic counseling.

Action: Consult with a geneticist or audiologist for further evaluation and family planning.

📊

Negative (No Pathogenic Variants)

No mutations in CDH23 gene identified; deafness may be due to other genetic or environmental factors.

Action: Consider other genetic tests or clinical evaluation to identify the cause.

📊

Variant of Uncertain Significance (VUS)

A variant was found, but its clinical significance is unknown; further studies may be needed.

Action: Repeat testing in the future or consult with a genetic counselor for interpretation.

⚠️ When to Consult a Doctor:

Consult a doctor or genetic counselor if you experience progressive hearing loss, have a family history of deafness, or receive positive or uncertain test results for guidance on management and family planning.

Limitations

  • ⚠May not detect all possible genetic variants
  • ⚠Results require correlation with clinical history
  • ⚠Cannot rule out deafness caused by other genes
  • ⚠Limited to CDH23 gene analysis
  • ⚠Genetic variants of uncertain significance may be identified

Risks & Considerations

  • ●Minimal risk from blood draw, such as slight pain, bruising, or infection at the puncture site
  • ●Psychological impact of genetic results
  • ●Risk of incidental findings unrelated to deafness

Interfering Factors

  • ●Sample contamination
  • ●Degraded DNA quality
  • ●Inadequate sample volume
  • ●Recent blood transfusions affecting DNA
  • ●Technical errors during sequencing

Frequently Asked Questions

What is CDH23 Gene Deafness?
CDH23 Gene Deafness is a genetic disorder caused by mutations in the CDH23 gene, leading to autosomal recessive deafness type 12. It affects the cadherin-23 protein in inner ear hair cells, causing hearing loss.
Who should consider this genetic test?
Individuals with unexplained hearing loss, a family history of genetic deafness, symptoms like tinnitus or vertigo, or those seeking genetic counseling for deafness should consider this test.
What is the cost of the CDH23 Gene Deafness NGS Test?
The test costs INR 20000 at DNA Labs India, with free home sample collection available across India.
How is the test performed?
The test uses Next-Generation Sequencing (NGS) to analyze the CDH23 gene from a blood or DNA sample. It detects mutations that cause deafness.
What are the symptoms of CDH23 Gene Deafness?
Symptoms include progressive hearing loss, tinnitus (ringing in ears), vertigo (dizziness), and balance difficulties, varying from mild to severe.
How long does it take to get results?
Results are typically available within 3 to 4 weeks after sample collection.
Is the test painful or risky?
The test involves a simple blood draw or finger-prick, which is minimally invasive with low risks like minor bruising. No significant risks are associated.
Can this test detect other genetic conditions?
This test specifically targets the CDH23 gene. For broader analysis, other genetic panels may be recommended based on clinical suspicion.
What if the test results are positive?
Positive results confirm CDH23-related deafness. Consult a geneticist or audiologist for management options, hearing aids, or cochlear implants, and genetic counseling for family planning.
Is genetic counseling available with the test?
Yes, DNA Labs India offers genetic counseling sessions to help interpret results and provide guidance on implications for individuals and families.
What sample types are accepted?
Accepted samples include blood in EDTA tube, extracted DNA, or one drop of blood on an FTA card.
How accurate is the NGS genetic test?
NGS technology is highly accurate for detecting mutations in the CDH23 gene, but results should be correlated with clinical findings. Some variants of uncertain significance may be identified.
Worried about the process? Our certified phlebotomists collect thousands of samples every month across India. The process takes under 5 minutes and is virtually painless. Questions? Message us on WhatsApp — we're here 7 days a week.

Related Tests

Connexin 30 Mutation Detection Test

₹8,000

COL4A3 Gene Alport syndrome, autosomal recessive NGS Genetic Test

₹20,000

PLCB4 Gene Auriculocondylar syndrome type 2 NGS Genetic Test

₹20,000

DIAPH3 Gene Auditory neuropathy, autosomal dominant NGS Genetic Test

₹20,000

MYO7A Gene Deafness, autosomal dominant type 11 NGS Genetic Test

₹20,000

POU4F3 Gene Deafness, autosomal dominant type 15 NGS Genetic Test

₹20,000
For Hospitals & Clinics

Reference 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.

LIMS Integration

Your Data Privacy

Your medical data is protected under Indian law.

✓ Stored in India: All patient records are stored on servers located in India. No data is transferred outside the country.

✓ DPDP Act Compliant: Under the Digital Personal Data Protection Act 2023, you can request deletion of your records at any time by contacting support.

Book Your Test

Enter your details and we'll connect you within 15 minutes.

🧬

Quick Connect

Enter your mobile number and we’ll connect you with the team.

+91

✅ Connecting you now...

🔒 Your number is used to respond to this request.