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DNA Labs India

ZMPSTE24 Gene Restrictive dermopathy, lethal NGS Genetic Test

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ZMPSTE24 Gene Restrictive dermopathy, lethal NGS Genetic Test

Short Name: ZMPSTE24 RD NGS Test

Also known as: Lethal Restrictive Dermopathy, ZMPSTE24-related Dermopathy

ZMPSTE24 Gene Restrictive dermopathy, lethal 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 (Prenatal and Postnatal)🏠 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

The purpose of this test is to diagnose restrictive dermopathy by identifying pathogenic variants in the ZMPSTE24 gene using NGS technology, aiding in clinical decision-making and genetic counseling.

Test Code
5131
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 of the patient and a genetic counseling session to draw a pedigree chart of family members affected with restrictive dermopathy.

Method: Venipuncture or FTA Card

Step 2

Laboratory Analysis

Standard blood draw or FTA card collection procedure.

Step 3

Report Delivery

Sample is processed for DNA extraction and NGS analysis.

Timeline: 3 to 4 weeks

Patient Instructions

1
Before the Test:Genetic counseling and clinical history assessment are required before testing.
2
During the Test:Blood sample collection or FTA card preparation.
3
After the Test:Results are available in 3-4 weeks, with genetic counseling provided.

About This Test

Who Should Get This Test

The purpose of this test is to diagnose restrictive dermopathy by identifying pathogenic variants in the ZMPSTE24 gene using NGS technology, aiding in clinical decision-making and genetic counseling.

How to Prepare

  • Use sterile equipment for blood collection
  • For FTA card, apply one drop of blood and air dry
  • Label samples correctly with patient details

Doctor's Notes

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

"Early genetic testing is crucial for managing restrictive dermopathy, enabling timely medical care and family planning support."

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 at room temperature for 24 hours
FTA cards: 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 ZMPSTE24 gene. Positive results confirm restrictive dermopathy, while negative results may require further clinical evaluation.
📊

Positive for pathogenic variant

Confirms diagnosis of restrictive dermopathy. Genetic counseling recommended for family planning.

📊

Negative for pathogenic variant

No mutations detected in ZMPSTE24 gene. Clinical correlation and additional testing may be needed if symptoms persist.

📊

Variant of uncertain significance

Further analysis and family studies recommended to determine clinical relevance.

⚠️ When to Consult a Doctor:

Consult a healthcare provider if symptoms of restrictive dermopathy are present, such as tight skin or skeletal abnormalities, or if there is a family history of the condition.

Limitations

  • ⚠May not detect all possible genetic variants or mosaicism
  • ⚠Requires genetic counseling for result interpretation
  • ⚠Results should be correlated with clinical findings

Risks & Considerations

  • ●Minimal risk from blood draw, such as bruising or infection
  • ●Psychological impact of genetic results; counseling recommended

Interfering Factors

  • ●Sample contamination
  • ●Degraded DNA quality
  • ●Hemolyzed blood sample

Frequently Asked Questions

What is restrictive dermopathy?
Restrictive dermopathy is a rare genetic disorder characterized by tight, shiny skin, joint contractures, and skeletal abnormalities, often caused by mutations in the ZMPSTE24 gene.
What causes restrictive dermopathy?
It is caused by mutations in the ZMPSTE24 gene, which affects lamin A protein processing, leading to cellular dysfunction and clinical symptoms.
How is restrictive dermopathy diagnosed?
Diagnosis involves clinical evaluation, prenatal ultrasound, and genetic testing such as the ZMPSTE24 Gene NGS Test to confirm mutations.
What is NGS genetic testing?
NGS (next-generation sequencing) is a technology that analyzes large amounts of genetic data quickly and accurately, ideal for diagnosing complex genetic disorders like restrictive dermopathy.
What is the cost of the ZMPSTE24 Gene Test?
The test costs INR 20000 at DNA Labs India, 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 across India.
How long does it take to get results?
Results are typically available within 3 to 4 weeks after sample collection.
What samples are needed for the test?
The test requires blood, extracted DNA, or one drop of blood on an FTA card.
Is genetic counseling required before testing?
Yes, a genetic counseling session is recommended to draw a pedigree chart and discuss implications before testing.
Can restrictive dermopathy be detected prenatally?
Yes, prenatal diagnosis can be performed using amniocentesis or chorionic villus sampling to analyze DNA for ZMPSTE24 mutations.
What are the treatment options for restrictive dermopathy?
There is no cure; management focuses on supportive care for symptoms, such as respiratory support and physical therapy, with genetic counseling for families.
How accurate is the ZMPSTE24 Gene Test?
The test uses NGS technology for high accuracy in detecting mutations, but results should be interpreted in conjunction with clinical findings by a healthcare 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.

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.

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