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PJVK Gene Deafness, autosomal recessive type 59 NGS Genetic Test

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PJVK Gene Deafness, autosomal recessive type 59 NGS Genetic Test

Short Name: PJVK Gene Deafness Test

Also known as: PJVK Gene Deafness Genetic Test, Autosomal Recessive Deafness Type 59 NGS Test

PJVK Gene Deafness, autosomal recessive type 59 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)Pediatric to Adult🏠 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 detect mutations in the PJVK gene associated with autosomal recessive deafness type 59 for accurate diagnosis, management, and genetic counseling.

Test Code
4739
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

Provide detailed clinical history and undergo genetic counseling to draw a pedigree chart of affected family members.

Method: Venipuncture or finger-prick

Step 2

Laboratory Analysis

Blood sample collected via venipuncture or finger-prick onto FTA card.

Step 3

Report Delivery

Sample labeled and transported to the lab under ambient conditions for analysis.

Timeline: 3 to 4 weeks

Patient Instructions

1
Before the Test:Genetic counseling session to discuss test implications and family history.
2
During the Test:Sample collection and processing using NGS technology.
3
After the Test:Report generation, delivery, and follow-up counseling if needed.

About This Test

Who Should Get This Test

To detect mutations in the PJVK gene associated with autosomal recessive deafness type 59 for accurate diagnosis, management, and genetic counseling.

How to Prepare

  • Ensure proper labeling
  • Avoid contamination
  • Store at room temperature

Doctor's Notes

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

"This test is vital for early diagnosis of hereditary deafness, enabling timely intervention and informed 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 VolumeAs required
ContainerEDTA tube or FTA card
Collection MethodVenipuncture or finger-prick

Sample Stability

Stable at room temperature for up to 7 days
Avoid extreme temperatures
Sample Rejection Criteria:
  • Hemolyzed sample
  • Insufficient volume
  • Improper labeling

Understanding Your Results

Results indicate the presence or absence of pathogenic variants in the PJVK gene, guiding diagnosis and management.
Positive: Pathogenic variant detected, confirming genetic cause; consult genetic counselor for management.
Negative: No pathogenic variant detected; consider other genetic or environmental factors.
Variant of uncertain significance: Further testing or family studies may be needed.
⚠️ When to Consult a Doctor:

If symptoms of progressive hearing loss are present, family history of deafness, or for genetic counseling post-test.

Limitations

  • ⚠May not detect all genetic variants
  • ⚠Requires interpretation by genetic counselor
  • ⚠Not for prenatal diagnosis without additional validation

Risks & Considerations

  • ●Minimal risk from blood draw (bruising, infection)
  • ●Psychological impact of results

Interfering Factors

  • ●Sample contamination
  • ●Degraded DNA
  • ●Hemolysis

Compare With Similar Tests

TestPJVK Gene Deafness, autosomal recessive type 59 NGS Genetic TestGJB2 Gene Deafness TestSLC26A4 Gene Deafness Test
ComparisonPJVK Gene Deafness, autosomal recessive type 59 NGS Genetic Test

Frequently Asked Questions

What is PJVK Gene Deafness?
PJVK Gene Deafness is a genetic disorder caused by mutations in the PJVK gene, leading to autosomal recessive deafness type 59, characterized by progressive hearing loss.
What are the symptoms of Autosomal Recessive Type 59 deafness?
Symptoms include progressive hearing loss starting in childhood, bilateral involvement, severe to profound impairment, and difficulty understanding speech in noisy settings.
How is the PJVK Gene Deafness test performed?
The test uses Next-Generation Sequencing (NGS) to analyze DNA from a blood sample or extracted DNA for mutations in the PJVK gene.
What is the cost of the PJVK Gene Deafness test?
The test costs INR 20,000, which includes sample collection, analysis, and reporting.
Is home sample collection available for this test?
Yes, DNA Labs India offers free home sample collection across India for online bookings.
How long does it take to get the test results?
Results are typically available within 3 to 4 weeks after sample collection.
What does a positive test result mean?
A positive result indicates the presence of a pathogenic variant in the PJVK gene, confirming a genetic cause for deafness. Genetic counseling is recommended.
What does a negative test result mean?
A negative result means no pathogenic variants were detected in the PJVK gene. Other genetic or environmental factors may be considered.
Is genetic counseling required before or after the test?
Yes, genetic counseling is recommended to discuss test implications, interpret results, and plan management.
Can this test be used for prenatal diagnosis?
This test is primarily for diagnostic purposes; prenatal testing may require additional validation and counseling.
Are there any risks associated with the test?
Risks are minimal, such as bruising from blood draw, but psychological impact of results should be considered.
How accurate is the NGS genetic test for PJVK gene deafness?
The test is highly accurate with state-of-the-art NGS technology, but accuracy depends on sample quality and variant detection capabilities.
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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