Skip to main content
DNA Labs India

DSG1 Gene Erythroderma, congenital, with palmoplantar keratoderma, hypotrichosis and hyper IgE NGS Genetic Test

DNA Labs India | ISO 9001:2015 Certified

DSG1 Gene Erythroderma, congenital, with palmoplantar keratoderma, hypotrichosis and hyper IgE NGS Genetic Test

Short Name: DSG1 Gene Erythroderma NGS Test

Also known as: Congenital erythroderma with palmoplantar keratoderma, hypotrichosis, and hyper IgE, DSG1 gene disorder

DSG1 Gene Erythroderma, congenital, with palmoplantar keratoderma, hypotrichosis and hyper IgE 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.

NGS Genetic TestNeonatal/Infants🏠 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 diagnose DSG1 gene erythroderma through genetic sequencing, enabling accurate identification of pathogenic variants for clinical management and genetic counseling.

Test Code
4927
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 and genetic counseling session recommended to draw a pedigree chart of affected family members.

Method: Venipuncture or FTA Card

Step 2

Laboratory Analysis

Blood sample collected via venipuncture or one drop on FTA card, following standard aseptic techniques.

Step 3

Report Delivery

Sample is labeled and transported to the laboratory at ambient room temperature for NGS analysis.

Timeline: 3 to 4 Weeks

Patient Instructions

1
Before the Test:Genetic counseling and informed consent are required. Provide detailed clinical history and family pedigree.
2
During the Test:Sample collection as per instructions, typically a blood draw or FTA card application.
3
After the Test:Results are available in 3-4 weeks, followed by genetic counseling to discuss findings and implications.

About This Test

Who Should Get This Test

To diagnose DSG1 gene erythroderma through genetic sequencing, enabling accurate identification of pathogenic variants for clinical management and genetic counseling.

How to Prepare

  • Ensure proper sample labeling with patient details
  • Avoid hemolysis in blood samples
  • Use FTA card for minimal blood volume

Doctor's Notes

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

"This test is crucial for early diagnosis and management of DSG1 gene erythroderma, aiding in genetic counseling and family planning for affected individuals."

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: 2-8°C for up to 24 hours
FTA Card: Stable at room temperature for extended periods
Sample Rejection Criteria:
  • Hemolyzed or clotted samples
  • Insufficient sample volume
  • Improperly labeled samples

Understanding Your Results

Results indicate the presence or absence of pathogenic variants in the DSG1 gene, which are associated with congenital erythroderma and related symptoms.
Positive: Pathogenic variant detected, confirming diagnosis of DSG1 gene erythroderma.
Negative: No pathogenic variant detected, but clinical correlation is necessary; other genetic causes may be considered.
Variant of uncertain significance (VUS): Requires further testing and genetic counseling for clarification.
⚠️ When to Consult a Doctor:

If symptoms such as congenital erythroderma, palmoplantar keratoderma, hypotrichosis, or elevated IgE levels are present, consult a dermatologist or geneticist for evaluation and possible genetic testing.

Limitations

  • ⚠May not detect all genetic variants
  • ⚠Requires genetic counseling for interpretation
  • ⚠Results may have variants of uncertain significance

Risks & Considerations

  • ●Minimal risk from blood draw, such as bruising or infection
  • ●Psychological impact of genetic test results
  • ●Potential for uncertain results requiring further investigation

Interfering Factors

  • ●Sample degradation
  • ●Contamination during collection
  • ●Hemolyzed blood samples

Compare With Similar Tests

TestDSG1 Gene Erythroderma, congenital, with palmoplantar keratoderma, hypotrichosis and hyper IgE NGS Genetic TestSkin BiopsySerum IgE Level TestFull Exome Sequencing
ComparisonDSG1 Gene Erythroderma, congenital, with palmoplantar keratoderma, hypotrichosis and hyper IgE NGS Genetic Test

Frequently Asked Questions

What is DSG1 gene erythroderma?
DSG1 gene erythroderma is a rare inherited skin disorder caused by mutations in the DSG1 gene, leading to symptoms like redness, scaling, thickened palms and soles, hair loss, and elevated IgE levels.
What are the symptoms of DSG1 gene erythroderma?
Symptoms include congenital erythroderma, palmoplantar keratoderma, hypotrichosis, hyper IgE, itching, burning skin, recurrent infections, and nail abnormalities.
How is DSG1 gene erythroderma diagnosed?
Diagnosis involves clinical examination, family history, and genetic testing such as NGS to identify mutations in the DSG1 gene.
What is the cost of the NGS Genetic Test for DSG1 gene erythroderma?
The test costs INR 20,000 at DNA Labs India, with home sample collection available across India.
Is home sample collection available for this test?
Yes, free home sample collection is offered for online bookings in numerous cities across India.
How long does it take to get the test results?
Results are typically available within 3 to 4 weeks after sample collection.
What does a positive test result mean?
A positive result indicates the presence of a pathogenic variant in the DSG1 gene, confirming the diagnosis of DSG1 gene erythroderma.
What does a negative test result mean?
A negative result means no pathogenic variants were detected, but clinical correlation is needed as other genetic causes may exist.
Can this test be used for prenatal diagnosis?
This test is primarily for postnatal diagnosis; prenatal testing may require specialized genetic counseling and different methods.
Is genetic counseling required before the test?
Yes, a genetic counseling session is recommended to discuss the test, implications, and draw a family pedigree chart.
Are there any risks associated with the test?
Risks are minimal, including slight discomfort from blood draw and potential psychological impact of results.
How can I book the test at DNA Labs India?
You can book the test online through our website or contact us via phone or WhatsApp for assistance.
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

Nx Gen Sequencing: Albinism Test

₹28,665

ADAR Gene Dyschromatosis Symmetrica Hereditaria NGS Genetic Test

₹20,000

COL7A1 Gene Epidermolysis bullosa dystrophica NGS Genetic Test

₹20,000

KRT14 Gene Epidermolysis bullosa simplex, Dowling-Meara type NGS Genetic Test

₹20,000

LAMA3 Gene Epidermolysis bullosa, generalized atrophic benign NGS Genetic Test

₹20,000

ENPP1 Gene Cole disease 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.