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Nx Gen Sequencing: Usher Syndrome Test

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Nx Gen Sequencing: Usher Syndrome Test

Short Name: Usher Syndrome NGS Test

Also known as: NGS Usher Syndrome Test, Usher Syndrome Genetic Test

Nx Gen Sequencing: Usher Syndrome Test test available at DNA Labs India for ₹28,665. Uses NGS, Sanger Sequencing on Whole Blood samples. Results in Report delivery within 45 working days from sample receipt.. Free home collection in 300+ cities across India.

Diagnostic🏠 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 diagnose Usher syndrome by identifying genetic mutations in associated genes using next-generation sequencing, aiding in clinical decision-making and family planning.

Test Code
1350
Price
₹28,665
Sample Type
Whole Blood
Result Time
Report delivery within 45 working days from sample receipt.
Fasting Required
No
Method
NGS, Sanger Sequencing
Step 1

Sample Collection

Complete and sign the Whole Exome Sequencing Consent Form (Form 37) before sample collection.

Method: Venipuncture

Step 2

Laboratory Analysis

Standard venipuncture procedure to collect whole blood from a vein in the arm.

Step 3

Report Delivery

Ship sample refrigerated; do not freeze. Ensure proper labeling and documentation.

Timeline: Report delivery within 45 working days from sample receipt.

Patient Instructions

1
Before the Test:Ensure consent form is filled and sample is collected properly. Follow any specific instructions from the testing facility.
2
During the Test:Blood sample is drawn and processed for genetic analysis using NGS and Sanger sequencing.
3
After the Test:Sample is analyzed, and report is generated. Results are delivered within 45 working days.

About This Test

Who Should Get This Test

To diagnose Usher syndrome by identifying genetic mutations in associated genes using next-generation sequencing, aiding in clinical decision-making and family planning.

How to Prepare

  • Submit 10 mL (5 mL min.) whole blood from 2 Lavender Top (EDTA) tubes.
  • Ship refrigerated. DO NOT FREEZE.
  • Duly filled Whole Exome Sequencing Consent Form (Form 37) is mandatory.

Doctor's Notes

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

"Genetic testing with Nx Gen Sequencing allows for precise diagnosis of Usher syndrome, enabling early intervention and tailored management strategies to preserve hearing and vision function."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeWhole Blood
Sample Volume10 mL (5 mL min.)
ContainerLavender Top (EDTA) tubes
Collection MethodVenipuncture

Sample Stability

Room Temperature: 6 hours
Refrigerator: 72 hours
Frozen: Not applicable
Sample Rejection Criteria:
  • Insufficient sample volume
  • Improper storage (e.g., frozen)
  • Missing or incomplete consent form

Understanding Your Results

Genetic testing results should be interpreted by a qualified healthcare professional in the context of clinical findings and family history.
Positive: Pathogenic mutations detected, consistent with Usher syndrome diagnosis.
Negative: No pathogenic mutations detected; clinical correlation recommended.
Variant of uncertain significance (VUS): May require further testing or family studies.
⚠️ When to Consult a Doctor:

If you experience hearing loss, vision problems, balance issues, or have a family history of Usher syndrome, consult a healthcare provider for evaluation and possible genetic testing.

Limitations

  • ⚠May not detect all genetic variants
  • ⚠Results require clinical correlation
  • ⚠Cannot rule out other genetic conditions

Risks & Considerations

  • ●Minor bruising at the collection site
  • ●Rare risk of infection

Interfering Factors

  • ●Sample hemolysis
  • ●Insufficient DNA quantity

Frequently Asked Questions

What is Usher syndrome?
Usher syndrome is a genetic condition that causes hearing loss, vision problems due to retinitis pigmentosa, and balance issues. It is inherited in an autosomal recessive pattern.
What are the symptoms of Usher syndrome?
Common symptoms include sensorineural hearing loss, difficulty seeing in dim light, tunnel vision, and balance problems such as vertigo.
How is Usher syndrome diagnosed?
Diagnosis involves clinical evaluation, hearing and vision tests, and genetic testing like Nx Gen Sequencing to identify mutations in associated genes.
What is Nx Gen Sequencing?
Nx Gen Sequencing is a next-generation sequencing method that analyzes multiple genes simultaneously, offering efficient and cost-effective genetic testing for conditions like Usher syndrome.
What genes are tested in this panel?
The test includes genes such as CDH23, CIB2, CLRN1, DFNB31, ADGRV1, MYO7A, PCDH15, PDZD7, USH1C, USH1G, and USH2A.
What is the cost of the Nx Gen Sequencing Usher Syndrome Test?
The cost in India is INR 28,665, which may include home sample collection and report generation.
Is home sample collection available?
Yes, free home sample collection is available for online bookings across numerous cities in India.
How long does it take to get results?
Report delivery is within 45 working days from sample receipt.
Is fasting required for this test?
No, fasting is not required. However, a duly filled consent form (Form 37) is mandatory before sample collection.
What should I do before the test?
Complete and sign the Whole Exome Sequencing Consent Form (Form 37) and ensure proper sample collection instructions are followed.
How accurate is this genetic test?
The test uses advanced NGS and Sanger sequencing for high accuracy, but results should be interpreted clinically as it may not detect all genetic variants.
What are the treatment options after diagnosis?
While there is no cure, management includes hearing aids, cochlear implants, vision aids, and balance therapy. Early diagnosis helps in planning interventions.
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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