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LAMB3 Gene Epidermolysis bullosa, junctional, Herlitz type NGS Genetic Test

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LAMB3 Gene Epidermolysis bullosa, junctional, Herlitz type NGS Genetic Test

Also known as: Junctional Epidermolysis Bullosa, Herlitz Type, LAMB3-Related Epidermolysis Bullosa

LAMB3 Gene Epidermolysis bullosa, junctional, Herlitz type 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.

NGS 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 pathogenic mutations in the LAMB3 gene for accurate diagnosis and management of junctional epidermolysis bullosa, Herlitz type, enabling early intervention and genetic counseling.

Test Code
2403
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

Provide detailed clinical history and undergo genetic counseling session to draw pedigree chart.

Method: Venipuncture

Step 2

Laboratory Analysis

Standard blood draw procedure using aseptic technique.

Step 3

Report Delivery

Apply pressure to puncture site, keep clean, and avoid strenuous activity.

Timeline: 3 to 4 weeks

Patient Instructions

1
Before the Test:Genetic counseling session to discuss test implications, informed consent, and collection of clinical history.
2
During the Test:Blood sample collection via venipuncture or use of FTA card.
3
After the Test:Wait for 3-4 weeks for results, then consult healthcare provider for interpretation and next steps.

About This Test

Who Should Get This Test

To identify pathogenic mutations in the LAMB3 gene for accurate diagnosis and management of junctional epidermolysis bullosa, Herlitz type, enabling early intervention and genetic counseling.

How to Prepare

  • Ensure proper patient identification
  • Use sterile equipment and aseptic technique
  • Label sample correctly with patient details
  • Follow kit instructions for FTA card if used

Doctor's Notes

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

"For families with a history of epidermolysis bullosa, genetic testing and counseling are essential steps in diagnosis and management."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
Collection MethodVenipuncture

Sample Stability

Blood: Store at 2-8°C for up to 48 hours
Extracted DNA: Stable at -20°C for long-term storage
Sample Rejection Criteria:
  • Hemolyzed or clotted sample
  • Insufficient sample volume
  • Improperly labeled or contaminated sample

Understanding Your Results

Results indicate the presence or absence of pathogenic variants in the LAMB3 gene, aiding in diagnosis of junctional epidermolysis bullosa, Herlitz type.
📊

Positive (Pathogenic Variant Detected)

Confirms diagnosis of LAMB3-related junctional EB; genetic counseling recommended.

📊

Negative (No Pathogenic Variant)

No mutations found; clinical correlation and further testing may be needed if symptoms persist.

📊

Variant of Uncertain Significance (VUS)

Variant detected but significance unclear; requires additional family studies or functional analysis.

⚠️ When to Consult a Doctor:

Consult a geneticist, dermatologist, or obstetrician/gynecologist if symptomatic, with family history, or after receiving test results for interpretation and management.

Limitations

  • ⚠May not detect all types of mutations (e.g., large deletions)
  • ⚠Requires genetic counseling for interpretation
  • ⚠Variant of uncertain significance (VUS) possible
  • ⚠Does not replace clinical evaluation

Risks & Considerations

  • ●Minimal risk from blood draw (bruising, infection)
  • ●Psychological impact of genetic results
  • ●Cost and insurance considerations
  • ●Potential for inconclusive results (VUS)

Interfering Factors

  • ●Sample contamination
  • ●Degraded DNA
  • ●Hemolysis in blood sample
  • ●Improper sample storage

Compare With Similar Tests

TestLAMB3 Gene Epidermolysis bullosa, junctional, Herlitz type NGS Genetic TestCOL7A1 Gene NGS TestKRT5/KRT14 Gene TestWhole Exome SequencingSkin Biopsy with Immunofluorescence
ComparisonLAMB3 Gene Epidermolysis bullosa, junctional, Herlitz type NGS Genetic Test

Frequently Asked Questions

What is the LAMB3 Gene Epidermolysis Bullosa NGS Test?
It is a genetic test using next-generation sequencing to detect mutations in the LAMB3 gene, which causes junctional epidermolysis bullosa, Herlitz type.
What is the cost of this test at DNA Labs India?
The test costs INR 20,000, with free home sample collection available across India.
How is the test performed?
A blood sample or extracted DNA is analyzed using NGS technology to identify pathogenic variants in the LAMB3 gene.
What are the symptoms of Herlitz type EB?
Symptoms include severe skin blistering, mucosal involvement, scarring, nail deformities, hair/teeth abnormalities, and joint issues.
Who should consider getting this test?
Individuals with symptoms of junctional EB, a family history of the condition, or those seeking carrier testing.
How long does it take to receive results?
Results are typically available within 3 to 4 weeks after sample collection.
Is home sample collection available?
Yes, DNA Labs India offers free home collection for this test in numerous cities across India.
What does a positive result mean?
A positive result indicates a pathogenic mutation in the LAMB3 gene, confirming diagnosis of junctional EB, Herlitz type.
Is genetic counseling required before testing?
Yes, genetic counseling is recommended to discuss implications, family history, and interpretation of results.
Can this test detect all mutations causing EB?
It focuses on the LAMB3 gene; other genes may require different tests for comprehensive analysis.
What is the difference between junctional and other types of EB?
Junctional EB involves defects in basement membrane proteins like laminin-5, while other types affect different skin layers or proteins.
How should I interpret the test results?
Consult a geneticist or dermatologist for interpretation, as results may include variants of uncertain significance requiring further evaluation.
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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