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MARVELD2 Gene Deafness, autosomal recessive type 49 NGS Genetic Test

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MARVELD2 Gene Deafness, autosomal recessive type 49 NGS Genetic Test

Short Name: MARVELD2 Gene Deafness Test

Also known as: DFNB49, Autosomal Recessive Deafness 49

MARVELD2 Gene Deafness, autosomal recessive type 49 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 MARVELD2 Gene Deafness NGS Genetic Test is to identify mutations in the MARVELD2 gene that cause autosomal recessive type 49 deafness. This test helps in confirming the diagnosis, assessing carrier status, informing family planning, and guiding clinical management for individuals with hearing loss.

Test Code
4737
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

No specific preparation required. Provide clinical history and family pedigree information.

Method: Venipuncture

Step 2

Laboratory Analysis

A blood sample will be collected via venipuncture or a drop on FTA card.

Step 3

Report Delivery

Apply pressure to the puncture site to prevent bleeding. Keep the area clean.

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. The test uses NGS technology for analysis.
3
After the Test:Results are available in 3 to 4 weeks. Genetic counseling is recommended post-test.

About This Test

Who Should Get This Test

The purpose of the MARVELD2 Gene Deafness NGS Genetic Test is to identify mutations in the MARVELD2 gene that cause autosomal recessive type 49 deafness. This test helps in confirming the diagnosis, assessing carrier status, informing family planning, and guiding clinical management for individuals with hearing loss.

How to Prepare

  • Ensure proper identification of the patient
  • Use sterile equipment for blood collection
  • Label the sample correctly with patient details

Doctor's Notes

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

"Early genetic testing for MARVELD2 gene mutations can aid in timely diagnosis and management of hearing loss, especially in families with a history of autosomal recessive deafness."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
Collection MethodVenipuncture

Sample Stability

Blood samples: Stable at room temperature for 24 hours
FTA card samples: Stable at room temperature for extended periods
Sample Rejection Criteria:
  • Hemolyzed or contaminated samples
  • Incorrectly labeled samples
  • Insufficient sample volume

Understanding Your Results

Results from the MARVELD2 Gene Deafness NGS Genetic Test indicate the presence or absence of pathogenic mutations in the MARVELD2 gene. A positive result confirms the diagnosis of autosomal recessive type 49 deafness, while a negative result suggests no detectable mutations, but does not rule out other genetic causes.
📊

Positive for pathogenic variant

Confirms diagnosis of MARVELD2 Gene Deafness. Genetic counseling and clinical management recommended.

📊

Negative for pathogenic variant

No mutations detected in MARVELD2 gene. Consider other genetic or non-genetic causes of hearing loss.

📊

Variant of uncertain significance

Further testing and family studies may be required for clarification.

⚠️ When to Consult a Doctor:

Consult a geneticist or ENT specialist if you have a family history of deafness, experience progressive hearing loss, or receive a positive test result for guidance on management and family planning.

Limitations

  • May not detect all possible genetic variants
  • Requires genetic counseling for interpretation
  • Results should be correlated with clinical findings

Risks & Considerations

  • Minimal risk from blood draw, such as bruising or infection
  • Psychological impact of genetic results

Interfering Factors

  • Sample contamination
  • Degraded DNA quality
  • Insufficient sample volume

Compare With Similar Tests

TestMARVELD2 Gene Deafness, autosomal recessive type 49 NGS Genetic TestGJB2 Gene Deafness TestSLC26A4 Gene Deafness TestOTOF Gene Deafness TestComprehensive Hearing Loss Panel
ComparisonMARVELD2 Gene Deafness, autosomal recessive type 49 NGS Genetic Test

Frequently Asked Questions

What is MARVELD2 Gene Deafness?
MARVELD2 Gene Deafness, Autosomal Recessive Type 49, is a genetic condition caused by mutations in the MARVELD2 gene, leading to hearing loss inherited in an autosomal recessive pattern.
What are the symptoms of MARVELD2 Gene Deafness?
Symptoms include progressive hearing loss, difficulty hearing high-pitched sounds, trouble understanding speech in noise, tinnitus, and vertigo. Severity varies from mild to complete deafness.
How is MARVELD2 Gene Deafness diagnosed?
Diagnosis involves genetic testing, such as the NGS Genetic Test, to detect mutations in the MARVELD2 gene, along with clinical evaluation and hearing tests.
What is the cost of the MARVELD2 Gene Deafness NGS Genetic Test?
The test costs INR 20000 at DNA Labs India, with free home sample collection available across India.
What sample is required for the test?
The test requires a blood sample, extracted DNA, or one drop of blood on an FTA card.
How long does it take to get results?
Results are typically available within 3 to 4 weeks after sample collection.
Is fasting required before the test?
No, fasting is not required for this genetic test.
Can this test be done at home?
Yes, DNA Labs India offers free home sample collection for online bookings across many cities in India.
What does a positive result mean?
A positive result confirms the presence of pathogenic mutations in the MARVELD2 gene, indicating a diagnosis of autosomal recessive type 49 deafness.
What should I do after receiving the results?
Consult a geneticist or ENT specialist for interpretation, management options, and genetic counseling, especially for family planning.
Is the test accurate?
Yes, the test uses next-generation sequencing (NGS) technology, which is highly accurate for detecting gene mutations.
Are there any risks associated with the test?
The test involves minimal risks from blood draw, such as bruising. Genetic results may have psychological implications, so counseling is recommended.
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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