LAMC2 Gene Epidermolysis bullosa, junctional NGS Genetic Test
Short Name: LAMC2 JEB NGS Test
Also known as: JEB LAMC2 Test, Epidermolysis Bullosa Junctional Genetic Test
LAMC2 Gene Epidermolysis bullosa, junctional 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.
🩺 Medically Reviewed By
Dr SULOCHANA HEMCHANDRA HOLLA
Consultant Medical Geneticist · Reg: 8532
Last reviewed: September 7, 2026
Overview
The purpose of this genetic test is to identify pathogenic mutations in the LAMC2 gene associated with Junctional Epidermolysis Bullosa (JEB), enabling accurate diagnosis, guiding treatment plans, and informing genetic counseling for affected individuals and families.
- Test Code
- 2396
- 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)
Sample Collection
Ensure patient has provided informed consent and clinical history. Genetic counseling session recommended to draw a pedigree chart.
Method: Venipuncture or FTA card placement
Laboratory Analysis
Blood sample collected via venipuncture in an EDTA tube or using a FTA card with one drop of blood.
Report Delivery
Label samples correctly and store at ambient room temperature until transport to the laboratory.
Timeline: 3 to 4 Weeks
Patient Instructions
About This Test
Who Should Get This Test
The purpose of this genetic test is to identify pathogenic mutations in the LAMC2 gene associated with Junctional Epidermolysis Bullosa (JEB), enabling accurate diagnosis, guiding treatment plans, and informing genetic counseling for affected individuals and families.
How to Prepare
- Use sterile equipment for blood collection
- Avoid hemolysis by gentle handling
- Ensure proper labeling with patient details
Doctor's Notes
Reviewed by Dr SULOCHANA HEMCHANDRA HOLLA — MBBS, MD (Medical Genetics) · Reg. No. 8532
"Early genetic testing for Junctional Epidermolysis Bullosa can guide treatment strategies and inform family planning decisions."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Hemolyzed or clotted samples
- Insufficient sample volume
- Improperly labeled or contaminated specimens
Understanding Your Results
Pathogenic variant detected
Confirms diagnosis of LAMC2-related JEB, recommend genetic counseling and management
No pathogenic variant detected
JEB due to LAMC2 mutations unlikely, consider other genetic or clinical causes
Variant of uncertain significance (VUS)
Further testing or family studies may be needed for clarification
Consult a healthcare provider or genetic counselor if symptoms of JEB are present, for interpretation of test results, or to discuss management and family planning options.
Limitations
- ⚠May not detect all genetic variants, including deep intronic mutations
- ⚠Cannot rule out other forms of epidermolysis bullosa
- ⚠Results require interpretation by a qualified geneticist or clinician
Risks & Considerations
- ●Minimal risk from blood collection, such as bruising or infection
- ●Psychological impact of genetic results, requiring counseling support
Interfering Factors
- ●Sample contamination during collection or processing
- ●Degraded DNA quality
- ●Presence of inhibitors in the sample
Compare With Similar Tests
| Test | LAMC2 Gene Epidermolysis bullosa, junctional NGS Genetic Test | COL7A1 Gene Test | KRT5/KRT14 Gene Test | Whole Exome Sequencing |
|---|---|---|---|---|
| Comparison | LAMC2 Gene Epidermolysis bullosa, junctional NGS Genetic Test |
Frequently Asked Questions
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₹20,000Reference 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.
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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