PLEC Gene Muscular dystrophy, limb-girdle, type 2Q NGS Genetic Test
Short Name: PLEC Gene LGMD2Q NGS Test
Also known as: PLEC Gene LGMD2Q Test, Limb-Girdle Muscular Dystrophy Type 2Q Genetic Test, PLEC Gene Sequencing
PLEC Gene Muscular dystrophy, limb-girdle, type 2Q NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses Next-Generation Sequencing (NGS) on Blood, Extracted DNA, or One drop Blood on FTA Card samples. Results in Reports are typically available within 3 to 4 weeks from the sample receipt.. 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 NGS genetic test is to identify disease-causing mutations in the PLEC gene, thereby confirming or excluding a diagnosis of limb-girdle muscular dystrophy type 2Q. It aids in genetic counselling of at-risk family members, carrier detection, and early implementation of supportive therapies to manage symptoms and prevent complications such as respiratory failure or cardiomyopathy.
- Test Code
- 4352
- Price
- ₹20,000
- Sample Type
- Blood, Extracted DNA, or One drop Blood on FTA Card
- Result Time
- Reports are typically available within 3 to 4 weeks from the sample receipt.
- Fasting Required
- No
- Method
- Next-Generation Sequencing (NGS)
Sample Collection
No fasting or special preparation is required. However, a genetic counseling session is recommended before the test to understand the implications and to draw a family pedigree.
Method: Venipuncture or Finger-prick blood spot
Laboratory Analysis
A blood sample will be collected from a vein in your arm. If using FTA card, a few drops of blood will be placed on the card. The procedure is quick and minimally invasive.
Report Delivery
You may resume normal activities immediately. No specific post-collection precautions are necessary. Reports will be shared within the stated turnaround time.
Timeline: Reports are typically available within 3 to 4 weeks from the sample receipt.
Patient Instructions
About This Test
Who Should Get This Test
The purpose of this NGS genetic test is to identify disease-causing mutations in the PLEC gene, thereby confirming or excluding a diagnosis of limb-girdle muscular dystrophy type 2Q. It aids in genetic counselling of at-risk family members, carrier detection, and early implementation of supportive therapies to manage symptoms and prevent complications such as respiratory failure or cardiomyopathy.
How to Prepare
- Please carry a valid government issued ID for verification
- Inform our phlebotomist if you are on any anticoagulant therapy, though it generally does not affect this test
- Ensure the FTA card is properly labeled with your name and unique barcode
- For home collection, keep your hands washed and avoid applying lotion before the procedure
Doctor's Notes
Reviewed by Dr SULOCHANA HEMCHANDRA HOLLA — MBBS, MD (Medical Genetics) · Reg. No. 8532
"Genetic testing for LGMD2Q is crucial for accurate diagnosis and family counselling. Early identification helps in proactive management of respiratory and cardiac complications."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Hemolyzed or clotted blood sample
- Mislabeled sample
- Sample received without proper consent form
- Sample in inappropriate transport medium
Understanding Your Results
Pathogenic variant detected
The diagnosis of LGMD2Q is confirmed. Family members should be offered targeted testing and genetic counselling.
Variant of uncertain significance (VUS) detected
The clinical significance is currently unclear. Testing of affected and unaffected family members may be recommended to clarify pathogenicity.
No pathogenic variant detected
No disease-causing mutation was found in the PLEC gene. This does not completely exclude LGMD2Q if symptoms strongly suggest it; other genetic and acquired conditions should be considered.
If you or a family member experience progressive muscle weakness, frequent falls, difficulty climbing stairs, or have a known family history of LGMD, consult a neurologist. Genetic testing and counselling can clarify your risk and guide early management.
Limitations
- ⚠This test may not detect large structural rearrangements, trimucleotide repeat expansions, or deep intronic mutations affecting splicing
- ⚠Variants of uncertain significance (VUS) may require additional testing of family members
- ⚠The absence of a pathogenic variant does not completely rule out LGMD2Q if clinical findings are strongly suggestive
- ⚠Results should be interpreted in the context of the patient's clinical history and physical examination
- ⚠NGS does not assess gene expression or protein function
Risks & Considerations
- ●Mild pain or bruising at the blood collection site
- ●Dizziness or fainting during blood draw (rare)
- ●Very low risk of infection at the site
Interfering Factors
- ●Sample contamination from maternal cells in prenatal samples
- ●Degraded DNA due to improper storage or transport
- ●Rare genetic variants of uncertain significance (VUS) that may require family segregation studies
- ●Homologous sequences in pseudogenes affecting sequencing alignment
- ●Incorrect sample labeling or mix-up
Compare With Similar Tests
| Test | PLEC Gene Muscular dystrophy, limb-girdle, type 2Q NGS Genetic Test | Single-gene Sanger sequencing for PLEC | LGMD Multi-gene NGS Panel | Muscle biopsy with immunohistochemistry |
|---|---|---|---|---|
| Comparison | PLEC Gene Muscular dystrophy, limb-girdle, type 2Q NGS Genetic Test |
Frequently Asked Questions
What is PLEC gene muscular dystrophy (LGMD2Q)?
What does the PLEC gene NGS genetic test cost in India?
What sample is needed for the PLEC gene test?
Do I need to fast before the test?
How long will it take to get the results?
Will I receive raw data with the report?
Can this test detect all LGMD types?
Is genetic counseling included?
Is home sample collection available?
Who should take this test?
What are the risks of genetic testing for LGMD2Q?
Can a negative result rule out LGMD2Q?
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