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SERPINB6 Gene Deafness, autosomal recessive type 91 NGS Genetic Test

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SERPINB6 Gene Deafness, autosomal recessive type 91 NGS Genetic Test

Short Name: SERPINB6 Gene Deafness Test

Also known as: SERPINB6-related deafness, DFNB91, Autosomal recessive deafness 91

SERPINB6 Gene Deafness, autosomal recessive type 91 NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses NGS Technology 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.

NGS Genetic Test🏠 Home Collection

🩺 Medically Reviewed By

Overview

The purpose of the SERPINB6 Gene Deafness NGS Genetic Test is to identify mutations in the SERPINB6 gene that cause autosomal recessive deafness type 91. This test aids in confirming diagnosis, guiding treatment strategies, facilitating genetic counseling, and enabling family risk assessment.

Test Code
4755
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
NGS Technology
Step 1

Sample Collection

Provide clinical history and family pedigree information. No specific fasting required unless indicated by physician.

Method: Venipuncture

Step 2

Laboratory Analysis

Blood sample collected via venipuncture by trained phlebotomist. For FTA card, one drop of blood is sufficient.

Step 3

Report Delivery

Apply pressure to the puncture site to prevent bruising. Resume normal activities.

Timeline: 3 to 4 Weeks

Patient Instructions

1
Before the Test:Consult with a healthcare provider for genetic counseling. Provide detailed medical and family history.
2
During the Test:Sample collection is quick and minimally invasive. NGS sequencing is performed in the laboratory.
3
After the Test:Results are available in 3-4 weeks. Follow-up with a geneticist for result interpretation and next steps.

About This Test

Who Should Get This Test

The purpose of the SERPINB6 Gene Deafness NGS Genetic Test is to identify mutations in the SERPINB6 gene that cause autosomal recessive deafness type 91. This test aids in confirming diagnosis, guiding treatment strategies, facilitating genetic counseling, and enabling family risk assessment.

How to Prepare

  • Ensure proper identification and labeling of samples
  • Use sterile collection tubes and follow aseptic techniques
  • Transport samples at ambient temperature as per guidelines
  • Include completed requisition form with clinical details

Doctor's Notes

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

"Early genetic testing for SERPINB6 mutations is crucial for accurate diagnosis, management, and family planning in autosomal recessive deafness cases."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
ContainerEDTA tube for blood
Collection MethodVenipuncture

Sample Stability

Blood samples: Stable for 48 hours at room temperature
Extracted DNA: Stable for longer periods if stored properly
FTA card samples: Stable for weeks at room temperature
Sample Rejection Criteria:
  • Hemolyzed or clotted blood samples
  • Insufficient sample volume
  • Improper labeling or missing documentation
  • Contaminated or degraded samples

Understanding Your Results

Results from the SERPINB6 Gene Deafness NGS Genetic Test indicate the presence or absence of mutations in the SERPINB6 gene. Interpretation should be done by a qualified geneticist or healthcare provider in the context of clinical findings.
📊

No pathogenic variants detected

No mutations in SERPINB6 gene identified; deafness may be due to other genetic or environmental factors.

📊

Pathogenic variant detected

Mutation in SERPINB6 gene confirmed; consistent with autosomal recessive deafness type 91. Genetic counseling recommended.

📊

Variant of uncertain significance (VUS)

Genetic variant identified but clinical significance unclear; further testing or family studies may be needed.

⚠️ When to Consult a Doctor:

Consult a geneticist or ENT specialist if results indicate pathogenic variants, for management planning, or if symptoms persist despite negative results.

Limitations

  • May not detect all genetic variants due to technical limitations
  • Results require interpretation by a geneticist or healthcare provider
  • Does not rule out other genetic or non-genetic causes of deafness
  • Genetic counseling is recommended for result understanding and implications

Risks & Considerations

  • Minimal risk from blood draw, such as bruising or discomfort
  • Psychological impact of genetic results; counseling available
  • No significant medical risks from the test itself

Interfering Factors

  • Sample contamination or degradation
  • Insufficient DNA quantity or quality
  • Technical errors in sequencing or analysis
  • Presence of variants of uncertain significance (VUS) requiring further evaluation

Compare With Similar Tests

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ComparisonSERPINB6 Gene Deafness, autosomal recessive type 91 NGS Genetic Test

Frequently Asked Questions

What is SERPINB6 gene deafness?
SERPINB6 gene deafness is an autosomal recessive condition caused by mutations in the SERPINB6 gene, leading to sensorineural hearing loss, often presenting in childhood.
How is the NGS genetic test performed?
The test uses Next-Generation Sequencing to analyze DNA from a blood sample, identifying mutations in the SERPINB6 gene and other deafness-related genes.
What is the cost of the SERPINB6 gene deafness test?
The test costs INR 20,000 at DNA Labs India, with home sample collection available across India.
Is home sample collection available for this test?
Yes, DNA Labs India offers free home sample collection for online bookings in numerous cities across India.
How long does it take to get the test results?
Results are typically available within 3 to 4 weeks after sample collection.
What are the symptoms of SERPINB6 gene deafness?
Symptoms include hearing loss, tinnitus, difficulty understanding speech, and challenges hearing in noisy environments, often starting in early childhood.
Who should consider getting this genetic test?
Individuals with unexplained hearing loss, family history of deafness, or those seeking genetic counseling for family planning should consider this test.
Is the test covered by insurance schemes like PMJAY or CGHS?
Coverage varies; it is advisable to check with your insurance provider or scheme administrator for specific details.
What is the accuracy of NGS testing for SERPINB6 mutations?
NGS technology is highly accurate for detecting genetic variants, but results should be interpreted by a geneticist in clinical context.
Can this test detect other genes associated with deafness?
Yes, NGS can analyze multiple genes simultaneously, providing a comprehensive assessment for hereditary hearing loss.
What do the test results mean?
Results indicate presence or absence of SERPINB6 mutations. Pathogenic variants confirm diagnosis, while no variants suggest other causes. Genetic counseling is recommended.
How should I prepare for the test?
No special preparation is needed. Provide clinical history and family pedigree information during genetic counseling before sample collection.
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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