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DNA Labs India

DST Gene Epidermolysis bullosa simplex, autosomal recessive type 2 NGS Genetic Test

DNA Labs India | ISO 9001:2015 Certified

DST Gene Epidermolysis bullosa simplex, autosomal recessive type 2 NGS Genetic Test

Short Name: DST Gene EBS-AR2 NGS Test

Also known as: EBS-AR2 DST Gene Test, DST Gene Mutation Analysis

DST Gene Epidermolysis bullosa simplex, autosomal recessive type 2 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 Reports available 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 SULOCHANA HEMCHANDRA HOLLA

Dr SULOCHANA HEMCHANDRA HOLLA

Consultant Medical Geneticist · Reg: 8532

Last reviewed: September 7, 2026

Overview

To identify mutations in the DST gene responsible for Epidermolysis Bullosa Simplex, Autosomal Recessive Type 2, aiding in accurate diagnosis, management, and genetic counseling.

Test Code
2395
Price
₹20,000
Sample Type
Blood or Extracted DNA or One drop Blood on FTA Card
Result Time
Reports available in 3 to 4 weeks.
Fasting Required
No
Method
Next-Generation Sequencing (NGS)
Step 1

Sample Collection

No specific preparation required. Provide clinical history and pedigree chart as advised.

Method: Venipuncture or FTA Card Spot

Step 2

Laboratory Analysis

Blood sample will be drawn by a trained phlebotomist. For FTA card, a drop of blood is spotted.

Step 3

Report Delivery

Apply pressure to the puncture site. Store sample as instructed.

Timeline: Reports available in 3 to 4 weeks.

Patient Instructions

1
Before the Test:Genetic counseling session to discuss test implications.
2
During the Test:Blood sample collection and NGS analysis in the lab.
3
After the Test:Report generation and delivery, follow-up consultation recommended.

About This Test

Who Should Get This Test

To identify mutations in the DST gene responsible for Epidermolysis Bullosa Simplex, Autosomal Recessive Type 2, aiding in accurate diagnosis, management, and genetic counseling.

How to Prepare

  • Bring identification and prescription
  • Inform about any medications
  • Ensure proper sample labeling

Doctor's Notes

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

"Genetic testing for DST gene mutations is crucial for confirming EBS-AR2 diagnosis, guiding treatment, and informing family planning decisions."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

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

Sample Stability

Blood sample: stable for 48 hours at room temperature
Extracted DNA: stable at -20°C for long-term
Sample Rejection Criteria:
  • Hemolyzed sample
  • Insufficient volume
  • Incorrect labeling

Understanding Your Results

Results indicate the presence or absence of pathogenic mutations in the DST gene.
Positive result: Confirms diagnosis of EBS-AR2, recommend genetic counseling
Negative result: Less likely EBS-AR2, consider other causes
Variant of Uncertain Significance: Further testing may be needed
⚠️ When to Consult a Doctor:

Upon receiving results, consult a dermatologist or genetic counselor for management options.

Limitations

  • ⚠May not detect all types of mutations
  • ⚠Results may require confirmation with other methods
  • ⚠Does not predict disease severity or progression

Risks & Considerations

  • ●Minimal risk from blood draw
  • ●Possible bruising or infection at puncture site

Interfering Factors

  • ●Sample contamination
  • ●Degraded DNA
  • ●Inadequate sample volume

Compare With Similar Tests

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ComparisonDST Gene Epidermolysis bullosa simplex, autosomal recessive type 2 NGS Genetic Test

Frequently Asked Questions

What is the DST Gene Epidermolysis Bullosa Simplex, Autosomal Recessive Type 2 NGS Genetic Test?
It is a diagnostic test using next-generation sequencing to identify mutations in the DST gene causing EBS-AR2.
Who should consider this test?
Individuals with symptoms like blistering skin at birth, family history of EBS, or clinical suspicion of EBS-AR2.
What are the symptoms of EBS-AR2?
Symptoms include blisters on hands and feet, scarring, thickened skin, calluses, and nail dystrophy.
How is the test performed?
A blood sample or DNA is collected and analyzed using NGS technology to detect DST gene mutations.
What is the cost of the test?
The cost is INR 20,000 at DNA Labs India, with possible discounts for online bookings.
Is home sample collection available?
Yes, free home sample collection is available across India for online bookings.
How long does it take to get results?
Results are typically available in 3 to 4 weeks.
What do the results mean?
Results indicate if pathogenic mutations are found, helping confirm diagnosis and guide management.
Are there any risks associated with the test?
Risks are minimal, mainly related to blood draw, such as bruising or infection.
Can the test detect all mutations?
It may not detect all mutation types; limitations exist, and confirmation might be needed.
What should I do after receiving the results?
Consult a dermatologist or genetic counselor for interpretation, management, and genetic counseling.
Is genetic counseling necessary before and after the test?
Yes, it is recommended to discuss implications, interpret results, and plan for families.
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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