Skip to main content
DNA Labs India

PRPS1 Gene Deafness, X-linked type 1 NGS Genetic Test

DNA Labs India | ISO 9001:2015 Certified

PRPS1 Gene Deafness, X-linked type 1 NGS Genetic Test

Short Name: PRPS1 Deafness NGS Test

Also known as: X-linked deafness type 1, PRPS1-related deafness, DFNX1

PRPS1 Gene Deafness, X-linked type 1 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.

NGS Genetic TestAll Ages🏠 Home Collection

✍️ Written By

🩺 Medically Reviewed By

Dr SHAILAJA RAGHUNATH MURDESHWAR

Dr SHAILAJA RAGHUNATH MURDESHWAR

Consultant Physician · Reg: 8052

Last reviewed: September 7, 2026

Overview

To identify mutations in the PRPS1 gene that cause X-linked deafness type 1, aiding in diagnosis, genetic counseling, and family planning.

Test Code
4760
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 family pedigree. No special preparation is required, but genetic counseling is recommended.

Method: Venipuncture or Blood Drop

Step 2

Laboratory Analysis

A blood sample will be collected via venipuncture or a blood drop on an FTA card by a trained phlebotomist.

Step 3

Report Delivery

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

Timeline: 3 to 4 Weeks

Patient Instructions

1
Before the Test:Provide detailed clinical history and family pedigree. No special preparation is required, but genetic counseling is recommended.
2
During the Test:A blood sample will be collected via venipuncture or a blood drop on an FTA card by a trained phlebotomist.
3
After the Test:Apply pressure to the puncture site to prevent bruising. Resume normal activities immediately.

About This Test

Who Should Get This Test

To identify mutations in the PRPS1 gene that cause X-linked deafness type 1, aiding in diagnosis, genetic counseling, and family planning.

How to Prepare

  • Ensure proper patient identification
  • Use sterile collection equipment
  • Label samples accurately with patient details

Doctor's Notes

Reviewed by — MBBS, MD (General Medicine) · Reg. No. 8052

"Genetic testing for PRPS1 gene mutations is essential for accurate diagnosis, family counseling, and management of X-linked deafness type 1."

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 for blood
ContainerEDTA tube or FTA card
Collection MethodVenipuncture or Blood Drop

Sample Stability

Room Temperature
Refrigerated (2-8°C)
Sample Rejection Criteria:
  • Hemolyzed or clotted sample
  • Incorrect labeling or insufficient volume
  • Contaminated or degraded sample

Understanding Your Results

Results indicate the presence or absence of pathogenic variants in the PRPS1 gene. A positive result confirms a genetic cause of X-linked deafness type 1.
📊

Pathogenic variant detected

Confirms diagnosis of X-linked deafness type 1 due to PRPS1 mutation; genetic counseling recommended.

📊

No pathogenic variant detected

No mutation found in PRPS1 gene; consider other genetic or environmental causes of deafness.

⚠️ When to Consult a Doctor:

Consult a geneticist or ENT specialist if you have a family history of deafness, symptoms of X-linked deafness, or receive a positive test result for further management and counseling.

Limitations

  • ⚠May not detect all mutation types (e.g., large deletions)
  • ⚠Requires genetic counseling for interpretation
  • ⚠Results should be correlated with clinical findings

Risks & Considerations

  • ●Minor bruising or discomfort at the puncture site
  • ●Rare risk of infection or hematoma

Interfering Factors

  • ●Poor sample quality or contamination
  • ●Insufficient DNA quantity
  • ●Technical errors in sequencing

Frequently Asked Questions

What is the PRPS1 Gene Deafness NGS Genetic Test?
It is a genetic test that uses next-generation sequencing to analyze the PRPS1 gene for mutations causing X-linked deafness type 1.
Who should consider getting this test?
Individuals with profound deafness from birth, family history of X-linked deafness, or symptoms like balance problems and tinnitus.
How is the test performed?
A blood sample or extracted DNA is analyzed using NGS technology to sequence the PRPS1 gene.
What is the cost of the test?
The cost is INR 20,000 at DNA Labs India, including home sample collection.
Is home sample collection available?
Yes, free home sample collection is available for online bookings across India.
How long does it take to get results?
Results are typically available within 3 to 4 weeks.
What do the results mean?
Positive results confirm a genetic mutation in PRPS1, while negative results indicate no pathogenic variants found.
Is genetic counseling required before testing?
Yes, a genetic counseling session is recommended to draw a family pedigree and discuss implications.
Can this test be used for prenatal diagnosis?
Consult a geneticist for prenatal testing options, as this test is primarily for diagnostic purposes.
What are the risks of the test?
Risks are minimal, including minor bruising at the blood draw site.
How accurate is the test?
NGS technology provides high accuracy for detecting mutations in the PRPS1 gene.
What should I do if I test positive?
Consult a geneticist or ENT specialist for management, family counseling, and potential treatment options.
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.