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TGM5 Gene Peeling skin syndrome type 2 NGS Genetic Test

DNA Labs India | ISO 9001:2015 Certified

TGM5 Gene Peeling skin syndrome type 2 NGS Genetic Test

Short Name: TGM5 PSS Type 2 NGS Test

Also known as: Peeling Skin Syndrome Type 2 Genetic Test, TGM5 Mutation Analysis, Genetic Test for Peeling Skin Disorder

TGM5 Gene Peeling skin syndrome type 2 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

🩺 Medically Reviewed By

Overview

The purpose of this test is to identify mutations in the TGM5 gene to confirm diagnosis of peeling skin syndrome type 2, inform treatment decisions, and facilitate genetic counseling.

Test Code
5103
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

No specific preparation required. Provide clinical history and genetic counseling session recommended.

Method: Venipuncture for blood sample or saliva collection

Step 2

Laboratory Analysis

Blood sample collected via venipuncture or saliva sample using provided kit.

Step 3

Report Delivery

Apply pressure to puncture site if blood drawn. Store sample as instructed.

Timeline: 3 to 4 Weeks

Patient Instructions

1
Before the Test:Provide detailed clinical history and undergo genetic counseling session.
2
During the Test:Sample collection (blood or saliva) performed by trained professional.
3
After the Test:Wait for results in 3-4 weeks. Discuss findings with healthcare provider.

About This Test

Who Should Get This Test

The purpose of this test is to identify mutations in the TGM5 gene to confirm diagnosis of peeling skin syndrome type 2, inform treatment decisions, and facilitate genetic counseling.

How to Prepare

  • Ensure sample is labeled correctly
  • Follow kit instructions for saliva collection
  • Avoid eating or drinking 30 minutes before saliva sample

Doctor's Notes

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

"This genetic test is crucial for confirming diagnosis of peeling skin syndrome type 2, enabling personalized treatment and genetic counseling for affected families."

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 sample or saliva collection

Sample Stability

Blood sample: Stable for 48 hours at room temperature
Extracted DNA: Stable for longer periods if stored properly
Sample Rejection Criteria:
  • Hemolyzed blood sample
  • Insufficient sample volume
  • Contaminated or mislabeled samples

Understanding Your Results

Results indicate the presence or absence of pathogenic mutations in the TGM5 gene. Positive results confirm genetic basis for peeling skin syndrome type 2.
📊

Negative

No pathogenic variant detected in TGM5 gene. Clinical correlation recommended.

📊

Positive

Pathogenic variant detected, confirming diagnosis of peeling skin syndrome type 2. Genetic counseling advised.

⚠️ When to Consult a Doctor:

Consult a dermatologist or genetic specialist if symptoms persist, worsen, or if genetic counseling is needed based on test results.

Limitations

  • May not detect all possible mutations in the TGM5 gene
  • Results require interpretation by a genetic specialist
  • Does not rule out other genetic or non-genetic causes of skin peeling

Risks & Considerations

  • Minimal risk from blood draw (bruising, infection)
  • Psychological impact of genetic results
  • Potential for uncertain or inconclusive results

Interfering Factors

  • Sample contamination
  • Improper sample storage
  • Recent blood transfusion may affect DNA analysis

Compare With Similar Tests

TestTGM5 Gene Peeling skin syndrome type 2 NGS Genetic TestTGM1 Gene Peeling Skin Syndrome Type 1 Genetic TestComprehensive Skin Disorder Genetic PanelIchthyosis Genetic Test
ComparisonTGM5 Gene Peeling skin syndrome type 2 NGS Genetic TestTargets different gene for type 1 syndromeBroader panel covering multiple genesFor different genetic skin disorder

Frequently Asked Questions

What is peeling skin syndrome type 2?
It is a rare genetic disorder causing continuous skin peeling due to TGM5 gene mutations.
What causes peeling skin syndrome type 2?
Mutations in the TGM5 gene disrupt skin cell adhesion, leading to peeling.
How is peeling skin syndrome type 2 diagnosed?
Diagnosis involves physical examination, medical history review, and genetic testing for TGM5 mutations.
What is the TGM5 gene?
The TGM5 gene encodes transglutaminase 5, essential for skin integrity; mutations cause peeling skin syndrome type 2.
What does the NGS genetic test involve?
Next Generation Sequencing analyzes the TGM5 gene for mutations using advanced technology.
How accurate is the TGM5 gene test?
The test is highly accurate for detecting known pathogenic mutations in the TGM5 gene.
What are the symptoms of peeling skin syndrome type 2?
Symptoms include constant skin shedding, redness, itching, blisters, thickened skin on palms/soles, and painful cracks.
Is the test covered by insurance?
It may not be covered; check with your insurance provider. DNA Labs India offers financing options.
How long does it take to get results?
Results are typically available within 3 to 4 weeks after sample collection.
What is the cost of the test?
The test costs INR 20,000, including sample collection, analysis, and reporting.
Can the test be done at home?
Yes, free home sample collection is available in many cities across India.
What should I do if the test is positive?
Consult a dermatologist or genetic specialist for treatment options and genetic counseling.
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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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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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.

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