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LAMA3 Gene Epidermolysis bullosa, junctional, Herlitz type NGS Genetic Test

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LAMA3 Gene Epidermolysis bullosa, junctional, Herlitz type NGS Genetic Test

Short Name: LAMA3 Gene JEB Herlitz Type NGS Test

Also known as: JEB Herlitz Type Genetic Test, LAMA3 Mutation Analysis, Herlitz JEB NGS Test

LAMA3 Gene Epidermolysis bullosa, junctional, Herlitz type NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses Next-Generation Sequencing (NGS), Genetic Sequencing 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 Test🏠 Home Collection

✍️ Written By

🩺 Medically Reviewed By

Dr SHAILAJA RAGHUNATH MURDESHWAR

Dr SHAILAJA RAGHUNATH MURDESHWAR

Consultant Physician · Reg: 8052

Last reviewed: September 7, 2026

Overview

The purpose of the LAMA3 Gene NGS Genetic Test is to identify mutations in the LAMA3 gene associated with Junctional Epidermolysis Bullosa, Herlitz Type. This test confirms clinical diagnosis, aids in genetic counseling, assesses carrier status for family members, and guides treatment and management decisions based on accurate genetic findings.

Test Code
2402
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), Genetic Sequencing
Step 1

Sample Collection

Genetic counseling session is recommended to discuss test implications and draw a family pedigree chart. No specific fasting required, but inform the lab of any medications or recent procedures.

Method: Blood Draw or Saliva Collection

Step 2

Laboratory Analysis

Sample collection via blood draw or saliva swab by a trained phlebotomist. Ensure proper labeling and handling of samples.

Step 3

Report Delivery

Apply pressure to the puncture site to prevent bruising. Store saliva samples as per instructions if not immediately processed.

Timeline: 3 to 4 weeks

Patient Instructions

1
Before the Test:Undergo genetic counseling and provide clinical history. No special preparation required beyond standard sample collection.
2
During the Test:Sample is collected and sent to the lab for NGS analysis. The process is non-invasive for saliva or routine for blood draw.
3
After the Test:Results are available in 3-4 weeks. Follow up with healthcare provider for interpretation and next steps.

About This Test

Who Should Get This Test

The purpose of the LAMA3 Gene NGS Genetic Test is to identify mutations in the LAMA3 gene associated with Junctional Epidermolysis Bullosa, Herlitz Type. This test confirms clinical diagnosis, aids in genetic counseling, assesses carrier status for family members, and guides treatment and management decisions based on accurate genetic findings.

How to Prepare

  • For blood sample: Use standard venipuncture technique with EDTA tube
  • For saliva sample: Follow kit instructions for saliva collection and preservation
  • Label sample with patient details and test name
  • Transport at ambient temperature unless specified otherwise

Doctor's Notes

Reviewed by — MBBS, MD (General Medicine) · Reg. No. 8052

"Early genetic diagnosis of Herlitz JEB through LAMA3 gene testing is essential for management, genetic counseling, and family planning to address severe skin fragility and systemic complications."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
Collection MethodBlood Draw or Saliva Collection

Sample Stability

Blood sample: Stable for 24 hours at room temperature
Extracted DNA: Stable for longer periods if stored properly
FTA card sample: Stable for extended periods at room temperature
Sample Rejection Criteria:
  • Insufficient sample volume
  • Hemolyzed or clotted blood sample
  • Incorrect sample type or container
  • Missing patient identification or consent

Understanding Your Results

Results from the LAMA3 Gene NGS Genetic Test indicate the presence or absence of pathogenic mutations in the LAMA3 gene. Positive results confirm the genetic basis for Junctional Epidermolysis Bullosa, Herlitz Type, while negative results may require further testing or clinical evaluation.
Positive Result: Pathogenic variants detected, consistent with diagnosis. Genetic counseling recommended for family.
Negative Result: No pathogenic variants found. Does not rule out other genetic causes; consider clinical correlation and additional testing.
Variant of Uncertain Significance (VUS): Genetic change identified but significance unclear. May require family studies or further research.
Carrier Status: Heterozygous carriers may be identified, important for family planning.
⚠️ When to Consult a Doctor:

Consult a genetic specialist or dermatologist if results are positive for carrier status, family planning, or to discuss management strategies. If symptoms persist despite negative results, further evaluation is needed.

Limitations

  • ⚠May not detect all types of mutations, such as large structural variants or deep intronic changes
  • ⚠Results require clinical correlation and genetic counseling
  • ⚠Cannot predict disease severity or progression solely from genetic findings
  • ⚠Other genes may be involved in similar phenotypes, requiring broader panel testing if negative

Risks & Considerations

  • ●Minimal risk from blood draw: bruising, infection at puncture site
  • ●Psychological impact of genetic diagnosis; counseling is advised
  • ●No direct physical risks from the test itself beyond standard sample collection

Interfering Factors

  • ●Sample contamination or degradation
  • ●Insufficient DNA quantity or quality
  • ●Hemolyzed blood samples
  • ●Recent blood transfusions may affect DNA analysis

Frequently Asked Questions

What is the LAMA3 Gene NGS Genetic Test?
This test uses Next-Generation Sequencing to analyze the LAMA3 gene for mutations causing Junctional Epidermolysis Bullosa, Herlitz Type, a severe skin blistering disorder.
Who should consider this test?
Individuals with symptoms like persistent blistering, swallowing difficulties, or a family history of epidermolysis bullosa, as recommended by a healthcare provider.
How is the sample collected?
Samples can be collected via blood draw or saliva swab at home or a lab. Free home collection is available in many cities across India.
What does a positive result mean?
A positive result indicates pathogenic mutations in the LAMA3 gene, confirming the diagnosis and aiding in genetic counseling and management.
What if the test is negative?
A negative result means no pathogenic variants were found, but clinical evaluation may still be needed if symptoms persist, as other genes could be involved.
How long does it take to get results?
Results are typically available within 3 to 4 weeks after sample collection.
Is genetic counseling included?
DNA Labs India provides genetic counseling support as part of the test package to help interpret results and discuss implications.
What is the cost of the test?
The test costs INR 20000, with possible discounts for online bookings. This includes sample collection, testing, and report generation.
Can this test be done for prenatal diagnosis?
Prenatal testing may be possible but requires specialized consultation with a genetic specialist to discuss options and implications.
What are the risks of the test?
The test has minimal physical risks from sample collection, but psychological impacts are possible; hence, counseling is recommended.
Is the test covered by insurance?
Coverage varies; it is not typically covered under government schemes like PMJAY or CGHS, but private insurance may cover it based on policy terms.
How accurate is NGS genetic testing?
NGS is highly accurate for detecting mutations, with sensitivity and specificity above 99% for the LAMA3 gene, but results should be interpreted clinically.
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

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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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