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DSP Gene Skin fragility-woolly hair syndrome NGS Genetic Test

DNA Labs India | ISO 9001:2015 Certified

DSP Gene Skin fragility-woolly hair syndrome NGS Genetic Test

Short Name: DSP Gene NGS Test

Also known as: DSP Gene Mutation Test, Skin Fragility-Woolly Hair Syndrome Genetic Test, Desmoplakin Gene Test

DSP Gene Skin fragility-woolly hair 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 TestAll Ages🏠 Home Collection

✍️ Written By

🩺 Medically Reviewed By

Dr Pasupathy Arumugam

Dr Pasupathy Arumugam

Consultant Pathologist · Reg: 21521

Last reviewed: September 7, 2026

Overview

To identify pathogenic mutations in the DSP gene for diagnosis of Skin Fragility-Woolly Hair Syndrome.

Test Code
2478
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 review and genetic counseling session recommended.

Method: Venipuncture for blood or FTA card collection

Step 2

Laboratory Analysis

Blood sample collected via venipuncture or one drop on FTA card.

Step 3

Report Delivery

Sample transported to laboratory for NGS analysis under ambient conditions.

Timeline: 3 to 4 weeks

Patient Instructions

1
Before the Test:Genetic counseling session to discuss test implications and draw pedigree chart.
2
During the Test:Sample collection and processing using NGS technology.
3
After the Test:Report generation, delivery, and follow-up consultation.

About This Test

Who Should Get This Test

To identify pathogenic mutations in the DSP gene for diagnosis of Skin Fragility-Woolly Hair Syndrome.

How to Prepare

  • Ensure proper sample labeling
  • Follow aseptic techniques
  • Store samples at room temperature

Doctor's Notes

Reviewed by — MBBS, MD (Pathology) · Reg. No. 21521

"Genetic testing is crucial for confirming diagnosis and guiding family planning. Consult a genetic counselor for personalized advice."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
Collection MethodVenipuncture for blood or FTA card collection

Sample Stability

Blood: Stable for 24 hours at room temperature
FTA card: Stable at room temperature for extended periods
Sample Rejection Criteria:
  • Hemolyzed or clotted blood samples
  • Insufficient sample volume
  • Incorrectly labeled samples

Understanding Your Results

Results indicate the presence or absence of pathogenic mutations in the DSP gene, aiding in diagnosis.
Positive: Pathogenic mutation detected, confirming diagnosis of Skin Fragility-Woolly Hair Syndrome
Negative: No pathogenic mutations detected, but clinical correlation and further testing may be needed
Variant of uncertain significance: Requires additional evaluation and genetic counseling
⚠️ When to Consult a Doctor:

If symptoms persist, for family planning advice, or if results are positive or uncertain.

Limitations

  • ⚠Test may not detect all possible mutations in the DSP gene
  • ⚠Requires genetic counseling for accurate interpretation
  • ⚠Results should be correlated with clinical findings

Risks & Considerations

  • ●Minimal risk from blood draw (e.g., bruising, infection)
  • ●Psychological impact of genetic results
  • ●Potential for uncertain findings requiring further evaluation

Interfering Factors

  • ●Sample contamination
  • ●Degraded DNA quality
  • ●Improper sample handling

Compare With Similar Tests

TestDSP Gene Skin fragility-woolly hair syndrome NGS Genetic Test
ComparisonDSP Gene Skin fragility-woolly hair syndrome NGS Genetic Test

Frequently Asked Questions

What is DSP Gene Skin Fragility-Woolly Hair Syndrome?
It is a rare autosomal recessive genetic disorder caused by mutations in the DSP gene, leading to fragile skin, woolly hair, and palmoplantar keratoderma.
What are the common symptoms of this syndrome?
Symptoms include skin blistering, woolly and brittle hair, thickened skin on palms and soles, hyperpigmentation, and scarring.
How is the syndrome diagnosed?
Diagnosis is based on clinical features and confirmed by genetic testing, such as the NGS Genetic Test for DSP gene mutations.
What does the NGS Genetic Test involve?
It uses Next-Generation Sequencing technology to analyze the DSP gene for mutations from a blood or DNA sample.
What is the cost of the test?
The test costs INR 20,000, with free home sample collection available across India.
Is home sample collection available?
Yes, DNA Labs India offers free home sample collection for this test in numerous cities.
How long does it take to get results?
Results are typically available within 3 to 4 weeks after sample collection.
What should I do before the test?
A genetic counseling session is recommended to discuss the test, provide clinical history, and draw a family pedigree chart.
Are there any risks associated with the test?
Risks are minimal, such as bruising from blood draw, but psychological impact of results should be considered.
What do the results mean?
Positive results confirm diagnosis, negative results may require further evaluation, and variants of uncertain significance need genetic counseling.
Can this test be used for family planning?
Yes, genetic testing can inform family planning decisions, especially for carriers or affected individuals.
Where can I get this test done?
The test is available at DNA Labs India with home collection across India; contact for booking and details.
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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✓ 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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