Skip to main content
DNA Labs India

DSP Gene Dilated cardiomyopathy with woolly hair, keratoderma, and tooth agenesis NGS Genetic Test

DNA Labs India | ISO 9001:2015 Certified

DSP Gene Dilated cardiomyopathy with woolly hair, keratoderma, and tooth agenesis NGS Genetic Test

Short Name: DSP Gene DCM NGS Test

Also known as: DSP Gene DCM with Ectodermal Dysplasia Test, Desmoplakin Gene Cardiomyopathy NGS Test

DSP Gene Dilated cardiomyopathy with woolly hair, keratoderma, and tooth agenesis 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 3 to 4 weeks. Free home collection in 300+ cities across India.

Cardiologist🏠 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 mutations in the DSP gene that cause dilated cardiomyopathy with woolly hair, keratoderma, and tooth agenesis, enabling precise diagnosis, personalized management, and genetic counseling for affected individuals and families.

Test Code
5253
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
Next Generation Sequencing (NGS)
Step 1

Sample Collection

Clinical history of the patient and a genetic counseling session to draw a pedigree chart of family members affected with DSP gene-related conditions are required before testing.

Method: Venipuncture or FTA card

Step 2

Laboratory Analysis

Blood sample is collected via venipuncture or using an FTA card with one drop of blood.

Step 3

Report Delivery

Sample is processed for DNA extraction and NGS analysis. Results are reviewed by geneticists.

Timeline: 3 to 4 weeks

Patient Instructions

1
Before the Test:Genetic counseling and clinical history assessment are required. No fasting is needed.
2
During the Test:A blood sample is drawn from a vein in the arm, which takes a few minutes.
3
After the Test:Apply pressure to the puncture site to prevent bleeding. Resume normal activities.

About This Test

Who Should Get This Test

To identify mutations in the DSP gene that cause dilated cardiomyopathy with woolly hair, keratoderma, and tooth agenesis, enabling precise diagnosis, personalized management, and genetic counseling for affected individuals and families.

How to Prepare

  • Ensure proper identification of the patient
  • Use sterile equipment for blood draw
  • Label samples correctly with patient details

Doctor's Notes

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

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 samples stable for 7 days at room temperature
Extracted DNA stable for long-term storage at -20°C
Sample Rejection Criteria:
  • Hemolyzed or contaminated samples
  • Incorrect labeling or insufficient sample

Understanding Your Results

Results indicate the presence or absence of mutations in the DSP gene. A positive result confirms a genetic diagnosis, while a negative result may require further testing or clinical evaluation.
📊

Pathogenic variant detected

Diagnosis of DSP-related dilated cardiomyopathy with associated symptoms is confirmed. Genetic counseling and cardiac monitoring are recommended.

📊

Likely pathogenic variant detected

Strong evidence for genetic cause; clinical correlation and family testing advised.

📊

Variant of uncertain significance (VUS)

Further research or family studies needed to determine clinical relevance.

📊

No pathogenic variant detected

DSP gene mutations not identified; consider other genetic or non-genetic causes.

⚠️ When to Consult a Doctor:

Consult a healthcare provider if you experience symptoms of heart failure, have physical abnormalities like woolly hair or keratoderma, or if there is a family history of cardiomyopathy. Genetic counseling is advised before and after testing.

Limitations

  • ⚠May not detect all genetic variants due to technical limitations
  • ⚠Results require interpretation by a genetic specialist

Risks & Considerations

  • ●Minor bruising or discomfort at the blood draw site
  • ●Psychological impact of genetic results

Interfering Factors

  • ●Contaminated DNA sample
  • ●Insufficient sample volume

Frequently Asked Questions

What is the DSP Gene Dilated Cardiomyopathy NGS Test?
This test uses Next Generation Sequencing to analyze the DSP gene for mutations causing dilated cardiomyopathy with woolly hair, keratoderma, and tooth agenesis.
Who should consider this genetic test?
Individuals with a family history of dilated cardiomyopathy, symptoms like woolly hair or keratoderma, or those diagnosed with unexplained heart failure.
What are the symptoms of DSP gene mutations?
Symptoms include dilated cardiomyopathy (heart enlargement), woolly hair, thickened skin on palms and soles, and missing teeth.
How is the test performed?
A blood sample is collected and analyzed using NGS technology to sequence the DSP gene for pathogenic variants.
What is the cost of the test in India?
The test costs INR 20000, which includes sample collection and analysis.
Is home sample collection available?
Yes, DNA Labs India offers free home sample collection across many cities in India.
How long does it take to get results?
Results are typically available within 3 to 4 weeks after sample collection.
What do the test results mean?
Results indicate if pathogenic variants are found in the DSP gene, confirming a genetic diagnosis. Interpretation should be done by a genetic specialist.
Are there any risks associated with the test?
Risks are minimal, such as slight discomfort during blood draw. Psychological impacts of results are possible, so genetic counseling is provided.
Is this test covered by insurance?
Coverage varies by insurance plan. Check with your provider; schemes like PMJAY or CGHS may not cover it.
How accurate is NGS testing for this condition?
NGS is highly accurate for detecting gene mutations, but results may require confirmation with other methods in some cases.
How should I prepare for the test?
No special preparation is needed. Provide a detailed clinical and family history during genetic counseling before the test.
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

MMC (Maternal Myopathy with Cardiomyopathy) Mutation Detection Test

₹11,500

LPA Gene Coronary artery disease, susceptibility to NGS Genetic Test

₹20,000

ITIH4 Gene Hypercholesterolemia, susceptibility to NGS Genetic Test

₹20,000

PPP1R17 Gene Hypercholesterolemia, susceptibility to NGS Genetic Test

₹20,000

APOA1 Gene Hypoalphalipoproteinemia NGS Genetic Test

₹20,000

GJC2 Gene Lymphedema, hereditary, type IC NGS Genetic Test

₹20,000
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.