PNPLA2 Gene Neutral lipid storage disease with myopathy NGS Genetic Test
Short Name: PNPLA2 NGS Genetic Test
Also known as: PNPLA2 Gene Myopathy NGS Test, Neutral Lipid Storage Disease with Myopathy Genetic Test, ATGL Gene Mutation Analysis
PNPLA2 Gene Neutral lipid storage disease with myopathy 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 3 to 4 weeks after the sample reaches the DNA Labs India 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
To confirm the clinical diagnosis of neutral lipid storage disease with myopathy by identifying pathogenic variants in the PNPLA2 gene using next-generation sequencing, thereby aiding in treatment planning, prognostication, and genetic counseling of at-risk family members.
- Test Code
- 4427
- Price
- ₹20,000
- Sample Type
- Blood, Extracted DNA, or One Drop Blood on FTA Card
- Result Time
- 3 to 4 weeks after the sample reaches the DNA Labs India laboratory.
- Fasting Required
- No
- Method
- Next Generation Sequencing (NGS)
Sample Collection
No special preparation or fasting is required. A clinical referral or prescription from a physician or a genetics specialist is recommended. Please bring prior investigation reports such as CK levels, EMG/NCS, muscle biopsy or imaging if available.
Method: Venipuncture or Blood Spot on FTA Card
Laboratory Analysis
A small blood sample will be drawn from a vein in your arm. Alternatively, a few drops of blood may be collected on an FTA card. The procedure is quick and minimally invasive.
Report Delivery
You may resume normal activities immediately. No specific precautions are needed. Your sample will be transported to the laboratory for processing.
Timeline: 3 to 4 weeks after the sample reaches the DNA Labs India laboratory.
Patient Instructions
About This Test
Who Should Get This Test
To confirm the clinical diagnosis of neutral lipid storage disease with myopathy by identifying pathogenic variants in the PNPLA2 gene using next-generation sequencing, thereby aiding in treatment planning, prognostication, and genetic counseling of at-risk family members.
How to Prepare
- Please ensure the laboratory or home collection request is appropriately linked with your doctor's prescription.
- For blood sample collection, the phlebotomist will use an EDTA vacutainer.
- If using an FTA card, allow the blood spot to air dry completely for at least 30 minutes before sealing.
- Label the sample tube or FTA card with the patient's name, date, and unique ID.
Doctor's Notes
Reviewed by Dr SULOCHANA HEMCHANDRA HOLLA — MBBS, MD (Medical Genetics) · Reg. No. 8532
"Genetic testing for PNPLA2-related myopathy should be clinically correlated with neurological findings and accompanied by genetic counseling for family planning and management."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Sample received with incomplete or mismatched labeling
- Insufficient quantity of blood or DNA
- Blood sample clotted or grossly hemolyzed
- FTA card with insufficient blood spots or contamination
- Sample transported at wrong temperature or after prolonged delay
Understanding Your Results
Pathogenic/Likely Pathogenic Variant Detected
Consistent with molecular diagnosis of PNPLA2-related neutral lipid storage disease with myopathy.
Negative (No Pathogenic Variant Detected)
Does not exclude the disease; other genes, deep intronic variants, or large structural variants may be responsible.
Variant of Uncertain Significance (VUS)
Additional segregation studies, functional assays, or reclassification may be required to determine its clinical significance.
If you or your child experience progressive muscle weakness, difficulty climbing stairs, unexplained muscle pain, or have a family history of neutral lipid storage disease or persistent CK elevation, schedule a consultation with a neurologist or clinical geneticist to discuss the need for genetic testing.
Limitations
- ⚠This NGS test targets only the PNPLA2 gene; variants in other genes causing similar myopathies may not be detected.
- ⚠Standard NGS may not reliably detect large deletions, duplications, complex rearrangements, or deep intronic variants.
- ⚠A negative result does not fully exclude the disease; further analysis or a broader neuromuscular gene panel may be necessary.
Risks & Considerations
- ●Minimal risk: slight discomfort or bruising at the blood collection site.
- ●No serious complications are associated with routine peripheral blood sample collection.
Interfering Factors
- ●Bone marrow transplantation or recent allogeneic stem cell transplantation may affect DNA analysis.
- ●Maternal cell contamination in prenatal samples (if applicable) could cause misleading results.
- ●Recently transfused whole blood may dilute the patient's DNA in certain sample types.
Frequently Asked Questions
What is the PNPLA2 gene neutral lipid storage disease with myopathy NGS genetic test?
Who should undergo this test?
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What is the cost of the PNPLA2 NGS genetic test in India?
Is fasting required before the test?
What sample types are accepted?
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Does the test cover all illnesses caused by PNPLA2 mutations?
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Can this test be done during pregnancy or on prenatal samples?
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