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DSP Gene Epidermolysis bullosa, lethal acantholytic NGS Genetic Test

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DSP Gene Epidermolysis bullosa, lethal acantholytic NGS Genetic Test

Short Name: DSP Gene EB NGS Test

Also known as: Lethal Acantholytic EB, DSP Gene Mutation Test

DSP Gene Epidermolysis bullosa, lethal acantholytic NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses NGS, DNA Sequencing 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 TestInfants and children🏠 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 DSP gene associated with lethal acantholytic epidermolysis bullosa for diagnosis and genetic counseling.

Test Code
2407
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, DNA Sequencing
Step 1

Sample Collection

No special preparation required. Ensure proper identification and informed consent. A genetic counseling session is recommended prior to testing.

Method: Venipuncture or FTA Card

Step 2

Laboratory Analysis

Blood sample drawn by a trained phlebotomist via venipuncture, or one drop of blood collected on an FTA card.

Step 3

Report Delivery

Apply pressure to the puncture site to prevent bleeding. Store the sample as per instructions before transport to the lab.

Timeline: 3 to 4 Weeks

Patient Instructions

1
Before the Test:A genetic counseling session to discuss test implications, family history, and draw a pedigree chart.
2
During the Test:Sample processing and next-generation sequencing in the laboratory to detect mutations in the DSP gene.
3
After the Test:Report generation and interpretation, followed by consultation with a geneticist or healthcare provider to discuss results.

About This Test

Who Should Get This Test

To identify mutations in the DSP gene associated with lethal acantholytic epidermolysis bullosa for diagnosis and genetic counseling.

How to Prepare

  • Fasting is not required for this test
  • Bring prescription and valid identification to the collection center
  • Wear comfortable clothing with easy access to the arm for blood draw

Doctor's Notes

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

"Genetic testing for DSP gene mutations is vital for early diagnosis and management of lethal acantholytic epidermolysis bullosa, helping families understand the condition and plan care."

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

Sample Stability

Blood sample: Stable for 24 hours at room temperature
FTA card: Stable at room temperature for extended periods if stored properly
Sample Rejection Criteria:
  • Hemolyzed or clotted blood sample
  • Incorrect container or insufficient sample volume
  • Unlabeled or improperly identified samples

Understanding Your Results

Results indicate the presence or absence of pathogenic variants in the DSP gene, which is crucial for diagnosing lethal acantholytic epidermolysis bullosa.
📊

Confirms diagnosis of lethal acantholytic epidermolysis bullosa. Genetic counseling and management planning are recommended.

📊

May not rule out other forms of epidermolysis bullosa or genetic conditions. Clinical correlation and further testing may be advised.

⚠️ When to Consult a Doctor:

If genetic test results are positive, or if there are clinical symptoms such as unexplained blistering, respiratory issues, or feeding difficulties in infants suggestive of epidermolysis bullosa.

Limitations

  • ⚠May not detect all possible mutations in the DSP gene or other genes
  • ⚠Results require interpretation by a geneticist or healthcare professional
  • ⚠Does not replace clinical evaluation and other diagnostic methods

Risks & Considerations

  • ●Minimal risk associated with blood draw, such as slight pain or bruising
  • ●Potential psychological impact of genetic results on the individual and family

Interfering Factors

  • ●Sample quality issues such as hemolysis or contamination
  • ●Inadequate sample volume or improper storage
  • ●Prior treatments that may affect DNA integrity

Compare With Similar Tests

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ComparisonDSP Gene Epidermolysis bullosa, lethal acantholytic NGS Genetic Test

Frequently Asked Questions

What is DSP gene epidermolysis bullosa?
It is a severe genetic skin disorder caused by mutations in the DSP gene, leading to fragile skin that blisters easily, often with life-threatening complications in infancy.
What are the symptoms of lethal acantholytic epidermolysis bullosa?
Symptoms include widespread blisters and erosions on skin and mucous membranes, difficulty breathing or feeding, increased infection risk, dehydration, and delayed growth.
How is the DSP gene NGS genetic test performed?
The test uses Next-Generation Sequencing to analyze the DSP gene from a blood sample or extracted DNA, identifying mutations associated with the disease.
What sample is required for the test?
A blood sample or extracted DNA, or one drop of blood on an FTA card, is required for testing.
Is fasting required for this genetic test?
No, fasting is not required. You can eat and drink normally before sample collection.
How long does it take to get results?
Results are typically available in 3 to 4 weeks after sample collection.
What is the cost of the DSP gene NGS genetic test in India?
The test costs INR 20,000, with home sample collection available at no extra charge in major cities.
Is home sample collection available for this test?
Yes, free home sample collection is available for online bookings across many cities in India.
Is the test covered by insurance?
Coverage may vary depending on your insurance policy. It is advisable to check with your insurance provider for details.
What if the test results are positive?
A positive result confirms the diagnosis, and genetic counseling will be recommended to discuss management, inheritance, and family planning.
Can this test detect other forms of epidermolysis bullosa?
This test specifically targets DSP gene mutations. Other forms may require testing for different genes, which can be discussed with a geneticist.
How accurate is NGS genetic testing for this condition?
NGS is highly accurate and sensitive for detecting mutations in the DSP gene, but interpretation should be done by a qualified genetic professional.
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.

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