Skip to main content
DNA Labs India

SPINK5 Gene Netherton syndrome NGS Genetic Test

DNA Labs India | ISO 9001:2015 Certified

SPINK5 Gene Netherton syndrome NGS Genetic Test

Short Name: SPINK5 Netherton Syndrome Test

SPINK5 Gene Netherton syndrome 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

To diagnose Netherton Syndrome by identifying mutations in the SPINK5 gene using next-generation sequencing technology.

Test Code
5066
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

Clinical History of Patient who is going for SPINK5 Gene Netherton syndrome NGS Genetic Test. A Genetic Counselling session to draw a pedigree chart of family members affected with SPINK5 Gene Netherton syndrome NGS Genetic Test gene SPINK5

Step 2

Laboratory Analysis

Your sample is analyzed using NGS Technology in our laboratory.

Step 3

Report Delivery

A certified pathologist reviews and signs your report. You receive it as a secure PDF via email and WhatsApp.

Timeline: 3 to 4 Weeks

Patient Instructions

1
Before the Test:Clinical History of Patient who is going for SPINK5 Gene Netherton syndrome NGS Genetic Test. A Genetic Counselling session to draw a pedigree chart of family members affected with SPINK5 Gene Netherton syndrome NGS Genetic Test gene SPINK5

About This Test

Who Should Get This Test

To diagnose Netherton Syndrome by identifying mutations in the SPINK5 gene using next-generation sequencing technology.

How to Prepare

  • Blood sample collected via venipuncture
  • Ensure proper labeling and handling of samples

Doctor's Notes

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

"Early genetic testing for Netherton Syndrome can guide management, inform family planning, and improve patient outcomes through personalized care."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

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

Understanding Your Results

Results indicate the presence or absence of mutations in the SPINK5 gene associated with Netherton Syndrome.
Positive for pathogenic variants: Indicates diagnosis of Netherton Syndrome
Negative for pathogenic variants: No mutations detected, but clinical correlation needed
Variant of uncertain significance: Further testing or consultation recommended
⚠️ When to Consult a Doctor:

If symptoms of Netherton Syndrome are present, such as severe skin issues, brittle hair, or frequent infections, or if there is a family history of the disorder.

Frequently Asked Questions

What is Netherton Syndrome?
Netherton Syndrome is a rare genetic disorder caused by mutations in the SPINK5 gene, affecting the skin, hair, and immune system.
What causes Netherton Syndrome?
It is caused by mutations in the SPINK5 gene and is inherited in an autosomal recessive pattern.
What are the symptoms of Netherton Syndrome?
Common symptoms include severe skin itching, redness, scaling, brittle hair, increased infection susceptibility, and allergies.
How is Netherton Syndrome diagnosed?
Diagnosis involves clinical examination, skin biopsy, and genetic testing such as NGS of the SPINK5 gene.
What is the SPINK5 gene?
The SPINK5 gene encodes a protein involved in skin barrier function; mutations lead to Netherton Syndrome.
What is NGS genetic testing?
Next-generation sequencing (NGS) is a method that sequences multiple genes simultaneously, making it efficient for genetic diagnosis.
How much does the SPINK5 Gene Netherton Syndrome NGS Genetic Test cost in India?
The test costs INR 20,000 at DNA Labs India, with free home sample collection available.
Is home sample collection available?
Yes, DNA Labs India offers free home sample collection for this test across India.
How long does it take to get the test results?
Results are typically available within 3 to 4 weeks.
What should I do before getting tested?
Provide clinical history and undergo genetic counseling to draw a family pedigree chart.
Is genetic counseling recommended?
Yes, genetic counseling is recommended to understand the test implications and family risks.
What are the treatment options for Netherton Syndrome?
Treatment focuses on managing symptoms, such as skincare for itching and infections, and may include immunotherapy; consult a healthcare provider.
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

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.