PLEC Gene Epidermolysis bullosa simplex with muscular dystrophy NGS Genetic Test
Short Name: PLEC EBS-MD NGS Test
Also known as: PLEC gene mutation analysis, Epidermolysis bullosa simplex with muscular dystrophy genetic test, Plectin gene NGS sequencing
PLEC Gene Epidermolysis bullosa simplex with muscular dystrophy 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 The clinical report is generally available within 3 to 4 weeks from the date the sample is received by the laboratory.. 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 test is to detect disease-causing variants in the PLEC gene that are associated with epidermolysis bullosa simplex with muscular dystrophy. It helps confirm a suspected molecular diagnosis, supports genetic counselling, and can assist in family and reproductive risk assessment when interpreted in clinical context.
- Test Code
- 4067
- Price
- ₹20,000
- Sample Type
- Blood or Extracted DNA or One drop Blood on FTA Card
- Result Time
- The clinical report is generally available within 3 to 4 weeks from the date the sample is received by the laboratory.
- Fasting Required
- No
- Method
- Next-Generation Sequencing (NGS)
Sample Collection
No fasting is required. Please provide the clinical history of the patient and complete a genetic counselling session, including a pedigree chart of family members affected with epidermolysis bullosa simplex or muscular dystrophy.
Method: Venous blood collection or dried blood spot on FTA card or extracted DNA submission
Laboratory Analysis
For venous blood collection, a small amount of blood is drawn into an EDTA tube. If using an FTA card, one drop of blood is placed on the designated filter paper card. The procedure is quick and minimally invasive.
Report Delivery
No specific precautions are needed after the sample collection. The patient can resume normal activities immediately.
Timeline: The clinical report is generally available within 3 to 4 weeks from the date the sample is received by the laboratory.
Patient Instructions
About This Test
Who Should Get This Test
The purpose of this test is to detect disease-causing variants in the PLEC gene that are associated with epidermolysis bullosa simplex with muscular dystrophy. It helps confirm a suspected molecular diagnosis, supports genetic counselling, and can assist in family and reproductive risk assessment when interpreted in clinical context.
How to Prepare
- Inform the laboratory about any previous genetic or dermatological testing.
- Provide a copy of clinical history and supporting medical records.
- Ensure the sample is labelled with the patient's name, date of birth, and collection date.
- For shipped samples, follow the kit instructions to avoid contamination or degradation.
Doctor's Notes
Reviewed by Dr SULOCHANA HEMCHANDRA HOLLA — MBBS, MD (Medical Genetics) · Reg. No. 8532
"Genetic testing for epidermolysis bullosa simplex with muscular dystrophy should be performed after a detailed clinical evaluation and genetic counseling. The PLEC gene NGS test can establish a molecular diagnosis, but clinical correlation is essential for accurate interpretation."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Clotted or hemolyzed EDTA blood sample.
- Insufficient sample quantity or degraded DNA.
- Unlabelled or mislabeled sample.
- Incomplete clinical or consent information required for genetic testing.
Understanding Your Results
Pathogenic/likely pathogenic variant detected
Positive result: this supports a molecular diagnosis of PLEC-related epidermolysis bullosa simplex with muscular dystrophy. Genetic counselling and family variant testing are recommended.
No pathogenic/likely pathogenic variant detected
Negative result: this reduces but does not exclude the diagnosis. Other genes or non-genetic causes should be considered by the clinician.
Variant of uncertain significance (VUS)
This test cannot confirm or rule out the disorder. Further evaluation, functional studies, or segregation analysis in family members may help clarify the clinical significance.
Benign/likely benign variant detected
This finding is not consistent with a PLEC pathogenic cause and is generally considered incidental.
Consult a clinical geneticist, dermatologist, neurologist, or obstetrician-gynecologist if the test detects a pathogenic/likely pathogenic variant, if symptoms of blistering and muscle weakness develop, or if the patient has a family history of epidermolysis bullosa simplex with muscular dystrophy and wants reproductive risk counselling.
Limitations
- ⚠This NGS test focuses on the PLEC gene and does not analyze all genes associated with epidermolysis bullosa or muscular dystrophy.
- ⚠Large structural rearrangements, deep intronic mutations, or complex repeats may not be reliably detected by standard NGS.
- ⚠A pathogenic variant may not be detected if the condition is caused by non-coding regulatory mutations not covered by the assay.
- ⚠Variants of uncertain significance may require additional family segregation studies or functional testing.
- ⚠This test is not intended for newborn screening or prenatal diagnosis unless specifically validated and ordered by a specialist.
Risks & Considerations
- ●Minimal risk of pain, bruising, or bleeding at the blood collection site.
- ●Dizziness or discomfort during blood collection.
- ●No significant medical risks are associated with FTA card or extracted DNA sample submission.
- ●Potential psychological impact after a positive or uncertain genetic result.
Interfering Factors
- ●Poor quality DNA or insufficient sample quantity.
- ●Sample contamination during collection, transport, or processing.
- ●Misidentification of sample or incorrect family/pedigree information.
- ●Presence of a pathogenic variant in another gene not covered by this targeted PLEC gene test.
- ●Allogeneic bone marrow transplant affecting blood-derived DNA.
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