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

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

Short Name: DST EBS-AR2 NGS Test

Also known as: DST Gene NGS Test, EBS-AR2 Genetic Test, Dystonin Gene Sequencing, Epidermolysis Bullosa Simplex AR2 DNA Test

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 The report will be shared within 3-4 weeks of sample receipt. Any delay in receiving the sample may extend the reporting period.. Free home collection in 300+ cities across India.

NGS Genetic TestAll Age Groups🏠 Home Collection

✍️ Written By

🩺 Medically Reviewed By

Dr SULOCHANA HEMCHANDRA HOLLA

Dr SULOCHANA HEMCHANDRA HOLLA

Consultant Medical Geneticist · Reg: 8532

Last reviewed: September 3, 2026

Overview

The purpose of this test is to sequence the DST gene and detect disease-causing mutations associated with epidermolysis bullosa simplex, autosomal recessive type 2. The result is used to confirm a suspected clinical diagnosis, differentiate EBS-AR2 from other epidermolysis bullosa subtypes, aid in carrier testing and provide information for genetic counselling and family planning.

Test Code
4065
Price
₹20,000
Sample Type
Blood or Extracted DNA or One drop Blood on FTA Card
Result Time
The report will be shared within 3-4 weeks of sample receipt. Any delay in receiving the sample may extend the reporting period.
Fasting Required
No
Method
Next-Generation Sequencing (NGS)
Step 1

Sample Collection

No fasting is required. A clinical history and genetic counseling session to draw a pedigree chart are strongly recommended before the test.

Step 2

Laboratory Analysis

Blood is drawn by trained staff. If using an FTA card, one drop of blood is applied to the card. The procedure is quick with minimal discomfort.

Step 3

Report Delivery

No special precautions are needed after collection. You may resume normal activities immediately.

Timeline: The report will be shared within 3-4 weeks of sample receipt. Any delay in receiving the sample may extend the reporting period.

Patient Instructions

1
Before the Test:No fasting required. A genetic counseling session is essential to document the family pedigree and discuss the benefits and limitations of testing.
2
During the Test:The sample is collected and sent to the laboratory for next-generation sequencing. The analysis takes several weeks to ensure accurate results.
3
After the Test:The patient should schedule a follow-up appointment to review the report with the referring physician or genetic counselor. Additional family members may be offered testing.

About This Test

Who Should Get This Test

The purpose of this test is to sequence the DST gene and detect disease-causing mutations associated with epidermolysis bullosa simplex, autosomal recessive type 2. The result is used to confirm a suspected clinical diagnosis, differentiate EBS-AR2 from other epidermolysis bullosa subtypes, aid in carrier testing and provide information for genetic counselling and family planning.

How to Prepare

  • Please provide a valid doctor prescription or request form
  • Patients should share a detailed family history with the genetic counselor
  • If using an FTA card, allow the blood spot to air dry completely before sealing the pouch

Doctor's Notes

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

"Genetic counseling is critical before and after DST gene testing to help patients understand inheritance, recurrence risks, and reproductive options."

Last medically reviewed: September 3, 2026

Test Parameters & Specifications

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

Sample Stability

Whole blood in EDTA tube
Extracted DNA
Dried blood on FTA card
Sample Rejection Criteria:
  • Clotted or hemolyzed blood sample
  • Improperly labelled sample
  • Incomplete requisition form
  • Sample stored outside recommended temperature range
  • Insufficient sample volume or DNA concentration

Understanding Your Results

The interpretation of DST gene NGS results should be performed by a molecular geneticist or clinical geneticist in the context of the patient's clinical presentation and family history.
📊

Negative

No pathogenic or likely pathogenic variant detected in the DST gene. A negative result does not rule out EBS-AR2; clinical follow-up is recommended.

📊

Positive

A pathogenic or likely pathogenic variant was identified in the DST gene, confirming the diagnosis of EBS-AR2 in the appropriate clinical context.

📊

Variant of Uncertain Significance (VUS)

A genetic variant was found, but its clinical significance is not yet established. Further testing of family members may help clarify.

⚠️ When to Consult a Doctor:

If you or your child experience skin blisters, erosions, or areas of thickened skin that appear after minor friction, especially on the hands and feet, or if you have a family history of epidermolysis bullosa, consult a dermatologist or medical geneticist.

Limitations

  • ⚠This test detects variants primarily in the DST gene and may not identify mutations in other genes associated with epidermolysis bullosa
  • ⚠Deep intronic variants, large structural rearrangements, and trinucleotide repeat expansions may not be detected by standard NGS
  • ⚠Variant of uncertain significance (VUS) results may require additional family segregation studies
  • ⚠A negative result does not completely exclude EBS-AR2; clinical correlation is essential
  • ⚠Test results should be interpreted by a certified clinical geneticist

Risks & Considerations

  • ●No significant medical risks. The main risk is minor bruising or infection at the blood collection site, which is uncommon.

Interfering Factors

  • ●Contamination of the sample during collection or processing
  • ●Degraded or insufficient DNA quantity
  • ●Inappropriate transport or storage temperature
  • ●Rare genetic variants outside the targeted capture regions

Frequently Asked Questions

What is the DST Gene Epidermolysis Bullosa Simplex AR2 NGS Genetic Test?
It is a Next-Generation Sequencing test that analyzes the DST gene to detect mutations responsible for autosomal recessive epidermolysis bullosa simplex type 2.
What is the cost of this genetic test in India?
The test costs INR 20,000 at DNA Labs India. The price includes free home sample collection when booking online.
What is epidermolysis bullosa simplex?
Epidermolysis bullosa simplex is a group of inherited skin disorders characterized by fragile skin that blisters and tears easily, often in response to minor trauma.
What are the symptoms of autosomal recessive EBS type 2?
Symptoms include blisters and sores on the skin, especially on the hands and feet, which may appear soon after birth or in early childhood. Skin thickening and hyperpigmentation may also occur.
What sample is required for the test?
The acceptable samples are whole blood, extracted DNA, or one drop of blood placed on an FTA card. Each is suitable for NGS analysis.
Is fasting required before the DST gene test?
No, fasting is not required for this genetic test.
How long does it take to get the report?
Reports are typically delivered within 3 to 4 weeks from the time the sample is received at the laboratory.
What is the pre-test preparation needed?
A clinical history and a genetic counseling session to draw a pedigree chart are recommended before testing. No other special preparation is required.
Who should consider taking this test?
Individuals with clinical suspicion of EBS-AR2, those with a family history of EBS, or couples at risk of having affected children may consider this test.
Does this test detect all types of epidermolysis bullosa?
No, this test specifically sequences the DST gene. Other genes are responsible for different EB types, and a broader panel may be considered if clinical features are unclear.
Can the test be done during pregnancy?
Prenatal testing is possible if the familial DST mutation is known. This requires prior consultation with a genetic specialist and special sample arrangements.
How can I book the DST gene NGS test at DNA Labs India?
You can book online through the DNA Labs India website or call our customer care number. Free home sample collection is available in all major Indian cities.
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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