PLEC Gene Epidermolysis bullosa simplex, Ogna type NGS Genetic Test
Short Name: PLEC Gene EB Ogna Type NGS Test
Also known as: Epidermolysis Bullosa Ogna Type, PLEC-Related EB Simplex
PLEC Gene Epidermolysis bullosa simplex, Ogna 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.
🩺 Medically Reviewed By
Dr SULOCHANA HEMCHANDRA HOLLA
Consultant Medical Geneticist · Reg: 8532
Last reviewed: September 7, 2026
Overview
To identify mutations in the PLEC gene for accurate diagnosis of Epidermolysis Bullosa Simplex, Ogna type, enabling early intervention, symptom management, and genetic counseling for affected individuals and families.
- Test Code
- 2394
- 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
Genetic counseling session recommended to discuss implications and draw a family pedigree chart. Provide clinical history of the patient.
Method: Venipuncture or Finger prick
Laboratory Analysis
Sample collected via venipuncture (blood draw) or finger prick for blood on FTA card. Procedure is minimally invasive with low risk.
Report Delivery
Apply pressure to the puncture site to prevent bruising. Store samples as per lab instructions for stability.
Timeline: 3 to 4 Weeks
Patient Instructions
About This Test
Who Should Get This Test
To identify mutations in the PLEC gene for accurate diagnosis of Epidermolysis Bullosa Simplex, Ogna type, enabling early intervention, symptom management, and genetic counseling for affected individuals and families.
How to Prepare
- Ensure proper identification and labeling of the sample
- Use sterile equipment for collection
- Transport samples at ambient room temperature unless specified otherwise
Doctor's Notes
Reviewed by Dr SULOCHANA HEMCHANDRA HOLLA — MBBS, MD (Medical Genetics) · Reg. No. 8532
"Early genetic testing for PLEC gene mutations aids in accurate diagnosis, management, and family planning for Epidermolysis Bullosa Ogna type."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Hemolyzed or clotted blood samples
- Insufficient sample volume
- Incorrect labeling or container
Understanding Your Results
Pathogenic variant detected
Confirms diagnosis of PLEC-related EB Ogna type. Further management and family testing recommended.
No pathogenic variant detected
EB Ogna type unlikely, but clinical evaluation may be needed for other causes.
Variant of uncertain significance
Requires additional testing and family studies for clarification.
Consult a genetic specialist or dermatologist if results indicate a pathogenic variant, for management options, or if symptoms persist despite negative results.
Limitations
- ⚠May not detect all possible PLEC gene variants or novel mutations
- ⚠Requires correlation with clinical findings and genetic counseling
- ⚠Does not rule out other types of Epidermolysis Bullosa
Risks & Considerations
- ●Minor pain or bruising at blood draw site
- ●Very low risk of infection
- ●No significant long-term risks
Interfering Factors
- ●Poor sample quality or insufficient DNA
- ●Contamination during sample collection
- ●Recent blood transfusions may affect DNA analysis
Compare With Similar Tests
| Test | PLEC Gene Epidermolysis bullosa simplex, Ogna type NGS Genetic Test | Skin Biopsy for EB | Immunofluorescence Mapping | Other EB Genetic Panels |
|---|---|---|---|---|
| Comparison | PLEC Gene Epidermolysis bullosa simplex, Ogna type NGS Genetic Test |
Frequently Asked Questions
What is PLEC Gene Epidermolysis Bullosa Simplex, Ogna Type?
How is the NGS Genetic Test performed?
What is the cost of this test in India?
Is home sample collection available?
How long does it take to get test results?
What are the common symptoms of this condition?
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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.
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✓ Stored in India: All patient records are stored on servers located in India. No data is transferred outside the country.
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