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DNA Labs India

COL11A2 Gene Deafness, autosomal recessive type 53 NGS Genetic Test

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COL11A2 Gene Deafness, autosomal recessive type 53 NGS Genetic Test

Short Name: COL11A2 AR Deafness NGS Test

Also known as: DFNB53, COL11A2-related deafness, Autosomal recessive deafness 53

COL11A2 Gene Deafness, autosomal recessive type 53 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. Free home collection in 300+ cities across India.

Next-Generation Sequencing (NGS)🏠 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

To diagnose COL11A2 gene mutations causing autosomal recessive deafness, enabling accurate clinical management, genetic counseling, and family planning decisions.

Test Code
4738
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)
Step 1

Sample Collection

No specific preparation required. Provide clinical history and family pedigree if available.

Method: Venipuncture or FTA card spotting

Step 2

Laboratory Analysis

Blood sample collected via venipuncture or one drop on FTA card by trained phlebotomist.

Step 3

Report Delivery

Apply pressure to puncture site. Store sample as instructed. Await report delivery.

Timeline: 3 to 4 Weeks

Patient Instructions

1
Before the Test:Provide detailed clinical history and family pedigree. No fasting required.
2
During the Test:Sample collection via blood draw or FTA card. Procedure is quick and minimally invasive.
3
After the Test:Monitor puncture site for any discomfort. Report will be delivered in 3-4 weeks.

About This Test

Who Should Get This Test

To diagnose COL11A2 gene mutations causing autosomal recessive deafness, enabling accurate clinical management, genetic counseling, and family planning decisions.

How to Prepare

  • Ensure proper identification of patient
  • Use sterile collection equipment
  • Label samples correctly
  • Transport samples at ambient temperature

Doctor's Notes

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

"This test is crucial for diagnosing hereditary deafness, guiding family planning, and providing genetic counseling to affected families."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
Sample Volume5-10 ml blood
ContainerEDTA tube or FTA card
Collection MethodVenipuncture or FTA card spotting

Sample Stability

Blood samples stable for 48 hours at room temperature
FTA cards stable for extended periods if stored properly
Sample Rejection Criteria:
  • Hemolyzed or clotted blood samples
  • Insufficient sample volume
  • Incorrect labeling or documentation

Understanding Your Results

Results indicate the presence or absence of pathogenic variants in the COL11A2 gene. Genetic counseling is essential to understand implications.
Normal result: No mutations detected; deafness likely due to other causes
Abnormal result: Pathogenic variant(s) identified; confirms diagnosis of COL11A2-related deafness
Variant of uncertain significance: Further testing or family studies may be needed
⚠️ When to Consult a Doctor:

If symptoms of hearing loss, tinnitus, or balance issues are present, or if there is a family history of deafness.

Limitations

  • ⚠May not detect all genetic variants or mutations
  • ⚠Requires genetic counseling for interpretation
  • ⚠Results may not predict disease severity or onset
  • ⚠Limited to COL11A2 gene analysis; other deafness genes not covered

Risks & Considerations

  • ●Minimal risks from blood draw, such as bruising or infection
  • ●No significant risks associated with genetic testing itself

Interfering Factors

  • ●Sample contamination
  • ●Degraded DNA
  • ●Incorrect sample collection or storage

Compare With Similar Tests

TestCOL11A2 Gene Deafness, autosomal recessive type 53 NGS Genetic TestGJB2 Gene Deafness TestSLC26A4 Gene Deafness TestComprehensive Hearing Loss PanelWhole Exome Sequencing for Deafness
ComparisonCOL11A2 Gene Deafness, autosomal recessive type 53 NGS Genetic Test

Frequently Asked Questions

What is the COL11A2 Gene Deafness Test?
It is an NGS genetic test that analyzes the COL11A2 gene for mutations causing autosomal recessive deafness type 53.
Who should consider taking this test?
Individuals with unexplained hearing loss, family history of deafness, or symptoms like tinnitus and balance issues.
What are the symptoms of COL11A2-related deafness?
Symptoms include hearing loss ranging from mild to profound, tinnitus, difficulty understanding speech, and balance problems.
How is the test performed?
A blood sample or DNA is collected and analyzed using NGS technology to detect mutations in the COL11A2 gene.
What is the cost of the test?
The test costs INR 20000 at DNA Labs India, with home sample collection available.
Is home sample collection available?
Yes, DNA Labs India offers free home sample collection across many cities in India.
How long does it take to get results?
Results are typically available within 3 to 4 weeks after sample collection.
What do the results mean?
Results indicate if pathogenic variants are present in the COL11A2 gene. Genetic counseling is recommended for interpretation.
Is genetic counseling recommended?
Yes, genetic counseling is advised to understand the implications of results and for family planning.
Can this test be used for prenatal diagnosis?
It may be used in prenatal settings with appropriate genetic counseling, but consult a specialist.
What are the limitations of the test?
It may not detect all mutations, and results require professional interpretation. Other genetic causes of deafness are not covered.
How accurate is the test?
The test uses advanced NGS technology for high accuracy, but no genetic test is 100% definitive for all cases.
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.

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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.

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