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LAMA3 Gene Epidermolysis bullosa, generalized atrophic benign NGS Genetic Test

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LAMA3 Gene Epidermolysis bullosa, generalized atrophic benign NGS Genetic Test

Short Name: LAMA3 Gene EB NGS Test

Also known as: LAMA3 Gene Mutation Test, Generalized Atrophic Benign EB NGS Test, Laminin-332 Related Epidermolysis Bullosa Test

LAMA3 Gene Epidermolysis bullosa, generalized atrophic benign 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.

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

The purpose of this test is to identify mutations in the LAMA3 gene using next-generation sequencing (NGS) technology, aiding in the diagnosis of generalized atrophic benign epidermolysis bullosa. It helps confirm the genetic cause, assess risk for family members, and guide clinical management.

Test Code
2392
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

No specific preparation required. Ensure accurate patient identification and clinical history documentation.

Method: Venipuncture or finger-prick

Step 2

Laboratory Analysis

Blood sample collected via venipuncture or one drop on FTA card by trained phlebotomist.

Step 3

Report Delivery

Sample labeled and transported under appropriate conditions to the laboratory for processing.

Timeline: 3 to 4 Weeks

Patient Instructions

1
Before the Test:Genetic counseling session to discuss test implications and draw a pedigree chart of affected family members.
2
During the Test:Blood sample collected and sent for NGS analysis in the laboratory.
3
After the Test:Reports delivered in 3 to 4 weeks; follow-up counseling recommended to discuss results.

About This Test

Who Should Get This Test

The purpose of this test is to identify mutations in the LAMA3 gene using next-generation sequencing (NGS) technology, aiding in the diagnosis of generalized atrophic benign epidermolysis bullosa. It helps confirm the genetic cause, assess risk for family members, and guide clinical management.

How to Prepare

  • Use sterile equipment for blood collection
  • For FTA card, apply one drop of blood and allow to dry
  • Store samples at ambient room temperature as specified
  • Document patient details and test requisition form accurately

Doctor's Notes

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

"Genetic testing for LAMA3 gene mutations is crucial for confirming diagnosis and guiding management in suspected cases of generalized atrophic benign epidermolysis bullosa."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
Sample VolumeAs required for testing
ContainerEDTA tube or FTA card
Collection MethodVenipuncture or finger-prick

Sample Stability

Blood samples: Stable for up to 48 hours at room temperature
Extracted DNA: Stable for longer periods when stored properly
FTA card samples: Stable at room temperature for extended periods
Sample Rejection Criteria:
  • Insufficient sample volume
  • Contaminated or hemolyzed samples
  • Incorrectly labeled or unlabeled samples

Understanding Your Results

Results from this NGS genetic test indicate the presence or absence of pathogenic mutations in the LAMA3 gene. A positive result confirms the genetic cause of generalized atrophic benign epidermolysis bullosa, while a negative result may require further clinical evaluation.
Positive for pathogenic variant: Confirms diagnosis; genetic counseling recommended for family
Negative for pathogenic variant: EB unlikely due to LAMA3 mutations; consider other genes or conditions
Variant of uncertain significance: May require further testing or family studies
⚠️ When to Consult a Doctor:

Consult a dermatologist or genetic counselor if symptoms of blistering skin, fragile skin, or family history of EB are present. After receiving test results, seek medical advice for management options.

Limitations

  • ⚠This test may not detect all possible mutations in the LAMA3 gene
  • ⚠It does not assess for environmental or non-genetic factors contributing to symptoms
  • ⚠Results should be interpreted in conjunction with clinical findings and family history

Risks & Considerations

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

Interfering Factors

  • ●Contaminated or degraded DNA samples may affect results
  • ●Recent blood transfusions could interfere with genetic analysis
  • ●Technical limitations of NGS may not detect all variant types

Frequently Asked Questions

What is the LAMA3 Gene Epidermolysis Bullosa NGS Genetic Test?
It is a next-generation sequencing test that identifies mutations in the LAMA3 gene, which causes generalized atrophic benign epidermolysis bullosa, a rare genetic skin disorder.
What are the symptoms of LAMA3 gene EB?
Symptoms include painful blisters, fragile skin, abnormal pigmentation, nail dystrophy, hair loss, eye problems, and difficulty swallowing.
How is the test performed?
A blood, extracted DNA, or one drop of blood on an FTA card is collected and analyzed using NGS technology to detect mutations in the LAMA3 gene.
What is the cost of this test in India?
The test costs INR 20,000, with free home sample collection available across India.
Who should undergo this test?
Individuals with symptoms of epidermolysis bullosa, a family history of EB, or those seeking genetic confirmation for diagnosis or counseling.
How long does it take to get results?
Results are typically available within 3 to 4 weeks after sample collection.
Is fasting required before the test?
No, fasting is not required for this genetic test.
What samples are accepted for testing?
Blood, extracted DNA, or one drop of blood on an FTA card are accepted samples.
Can this test be done at home?
Yes, DNA Labs India offers free home sample collection for online bookings across India.
What if the test results are negative?
A negative result may indicate that LAMA3 gene mutations are not the cause; further clinical evaluation and testing for other genes may be recommended.
Is genetic counseling provided with the test?
Yes, a genetic counseling session is included to discuss test implications, draw a pedigree chart, and interpret results.
How accurate is this NGS genetic test?
NGS technology is highly accurate for detecting genetic mutations, but results should be interpreted by a qualified healthcare professional in the context of clinical findings.
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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