Skip to main content
DNA Labs India

MMP1 Gene Epidermolysis bullosa dystrophica, autosomal recessive, modifier of NGS Genetic Test

DNA Labs India | ISO 9001:2015 Certified

MMP1 Gene Epidermolysis bullosa dystrophica, autosomal recessive, modifier of NGS Genetic Test

Short Name: MMP1 EBD Modifier NGS Test

Also known as: MMP1 Gene Modifier Test for EBD, EBD Autosomal Recessive Modifier Genetic Test

MMP1 Gene Epidermolysis bullosa dystrophica, autosomal recessive, modifier of 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.

Genetic Test🏠 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 identify mutations or variations in the MMP1 gene that serve as genetic modifiers for autosomal recessive epidermolysis bullosa dystrophica, aiding in diagnosis, prognosis, and personalized treatment planning.

Test Code
2389
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

Provide clinical history of the patient and undergo a genetic counselling session to draw a family pedigree chart. No fasting required.

Method: Venipuncture or FTA card application

Step 2

Laboratory Analysis

Sample collection via venipuncture or application of one drop of blood on an FTA card.

Step 3

Report Delivery

Store sample at ambient room temperature and transport to the laboratory promptly.

Timeline: 3 to 4 Weeks

Patient Instructions

1
Before the Test:Clinical history review and genetic counselling session are required before sample collection.
2
During the Test:Sample is processed using NGS technology to analyze the MMP1 gene for mutations.
3
After the Test:Report is generated and delivered within 3-4 weeks via online portal, email, or WhatsApp.

About This Test

Who Should Get This Test

To identify mutations or variations in the MMP1 gene that serve as genetic modifiers for autosomal recessive epidermolysis bullosa dystrophica, aiding in diagnosis, prognosis, and personalized treatment planning.

How to Prepare

  • Ensure informed consent is obtained
  • Use sterile collection equipment
  • Label sample correctly with patient details
  • Avoid hemolysis during blood draw

Doctor's Notes

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

"This test identifies genetic modifiers in the MMP1 gene for autosomal recessive epidermolysis bullosa dystrophica, aiding in risk assessment and personalized management strategies."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
Sample VolumeAs per requirement
ContainerEDTA tube or FTA card
Collection MethodVenipuncture or FTA card application

Sample Stability

Blood in EDTA tube: stable at 2-8°C for 7 days
DNA: stable at -20°C for long-term storage
FTA card: stable at room temperature for weeks
Sample Rejection Criteria:
  • Insufficient sample volume
  • Clotted or hemolyzed blood
  • Improper labeling
  • Contaminated sample

Understanding Your Results

Results are interpreted based on the presence of mutations in the MMP1 gene. Variants are classified according to standard guidelines and should be reviewed in the context of clinical findings.
📊

Pathogenic variant detected

Confirmed genetic modifier for EBD; consult geneticist for management

📊

Likely pathogenic variant detected

Probable genetic modifier; recommend family testing and counselling

📊

Variant of uncertain significance

Further testing or family studies may be needed

📊

No variant detected

Does not exclude EBD; consider other genetic causes

⚠️ When to Consult a Doctor:

If symptoms such as persistent blistering, poor wound healing, or family history of EBD are present, or after receiving genetic test results for proper interpretation and management.

Limitations

  • ⚠May not detect all genetic variants
  • ⚠Results require clinical correlation
  • ⚠Does not rule out other genetic causes of EBD

Risks & Considerations

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

Interfering Factors

  • ●Poor sample quality
  • ●Contaminated DNA
  • ●Recent blood transfusion

Frequently Asked Questions

What is the MMP1 Gene Epidermolysis Bullosa Dystrophica Modifier NGS Genetic Test?
It is a genetic test that identifies mutations in the MMP1 gene that act as modifiers for autosomal recessive epidermolysis bullosa dystrophica, helping in diagnosis and management.
Who should consider this test?
Individuals with symptoms of EBD such as frequent blistering, delayed healing, or a family history of the disorder, and those planning for genetic counselling.
What sample is required for the test?
Blood, extracted DNA, or one drop of blood on an FTA card can be used for sample collection.
Is fasting required before the test?
No, fasting is not required for this genetic test.
How is the test performed?
The test uses next-generation sequencing (NGS) technology to analyze the MMP1 gene for mutations from the provided DNA sample.
What is the cost of the test in India?
The cost is INR 20000, which includes home sample collection, genetic counselling, and detailed clinical report.
How long does it take to get the results?
Results are typically available within 3 to 4 weeks after sample collection.
What do the results indicate?
Results may show pathogenic, likely pathogenic, or variants of uncertain significance in the MMP1 gene, which require interpretation by a healthcare professional.
Is home sample collection available?
Yes, free home sample collection is offered for online bookings across many cities in India.
What are the risks of the test?
Risks are minimal and mainly related to blood draw, such as bruising or discomfort. Genetic results may have psychological implications.
Can this test diagnose all types of epidermolysis bullosa?
No, this test specifically targets the MMP1 gene modifier for autosomal recessive EBD; other genes may be involved in different types.
How should I prepare for the test?
Provide clinical history, undergo genetic counselling to draw a pedigree chart, and ensure proper sample collection. No special preparation is needed.
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

DST Gene Epidermolysis bullosa simplex, autosomal recessive type 2 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.