GNE Gene Inclusion body myopathy NGS Genetic Test
Short Name: GNE Myopathy NGS Test
Also known as: GNE Myopathy NGS Test, Nonaka Myopathy Genetic Test, HIBM NGS Panel, GNE Gene Sequencing Test
GNE Gene Inclusion body myopathy NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses Next-Generation Sequencing, Sanger Confirmation on Blood or Extracted DNA or One drop Blood on FTA Card samples. Results in Results are typically available within 3 to 4 weeks after the laboratory receives the sample. In urgent cases, expedited processing may be available on request.. 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 primary purpose of this NGS genetic test is to detect pathogenic mutations in the GNE gene that cause inclusion body myopathy. Early molecular confirmation enables timely intervention, disease management, and genetic counselling. It also aids in identifying at-risk family members, facilitating carrier testing, and guiding reproductive decisions.
- Test Code
- 4144
- Price
- ₹20,000
- Sample Type
- Blood or Extracted DNA or One drop Blood on FTA Card
- Result Time
- Results are typically available within 3 to 4 weeks after the laboratory receives the sample. In urgent cases, expedited processing may be available on request.
- Fasting Required
- No
- Method
- Next-Generation Sequencing, Sanger Confirmation
Sample Collection
Patient should provide detailed clinical history and medication list. A genetic counselling session may be conducted to draw a pedigree chart. No fasting is required.
Method: Peripheral blood draw / Dried blood spot
Laboratory Analysis
Blood sample is collected in an EDTA vacutainer by standard venipuncture. If using FTA card, a drop of blood is applied to the card and allowed to air dry.
Report Delivery
The sample is transported at ambient temperature to the laboratory. The patient can resume normal activities immediately.
Timeline: Results are typically available within 3 to 4 weeks after the laboratory receives the sample. In urgent cases, expedited processing may be available on request.
Patient Instructions
About This Test
Who Should Get This Test
The primary purpose of this NGS genetic test is to detect pathogenic mutations in the GNE gene that cause inclusion body myopathy. Early molecular confirmation enables timely intervention, disease management, and genetic counselling. It also aids in identifying at-risk family members, facilitating carrier testing, and guiding reproductive decisions.
How to Prepare
- For FTA card: Apply a single drop of blood to the center of each circle and let dry at room temperature for at least 1 hour
- For extracted DNA: Provide at least 1-2 µg of high-quality DNA in a sterile microcentrifuge tube
- Clearly label the sample with patient name and date of birth
Doctor's Notes
Reviewed by Dr SULOCHANA HEMCHANDRA HOLLA — MBBS, MD (Medical Genetics) · Reg. No. 8532
"Genetic testing for GNE myopathy is crucial for early diagnosis and targeted management. Patients presenting with characteristic muscle weakness should undergo NGS to identify pathogenic variants."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Hemolyzed, clotted, or lipemic blood sample
- Insufficient DNA quantity or quality
- Sample with no patient identifier
- Sample received in non-sterile or expired container
- FTA card with insufficient blood impregnation
Understanding Your Results
Confirms diagnosis of GNE myopathy. Supportive evidence includes family history and clinical symptoms.
Strongly indicates pathogenicity; clinical correlation advised and confirmation may be offered.
Insufficient evidence to determine pathogenicity. Additional testing of family members may be required.
No evidence of GNE myopathy. Clinical diagnosis should be reviewed if symptoms persist.
If you or a family member experience progressive muscle weakness, frequent falls, or difficulty walking, especially in the second or third decade of life, consult a neurologist or medical geneticist. Genetic testing is recommended before irreversible muscle damage occurs.
Limitations
- ⚠NGS may not detect all types of mutations such as large genomic rearrangements (copy number variants) which require additional methods like MLPA
- ⚠Repeat expansion disorders cannot be detected by this test
- ⚠Variant of uncertain significance (VUS) results may require further family studies
- ⚠Mutations in other genes may cause similar clinical phenotype; this test only analyzes the GNE gene
- ⚠Sanger sequencing may be used to confirm clinically significant variants
Risks & Considerations
- ●Minor bruising or bleeding at the puncture site
- ●Dizziness or fainting during blood draw
- ●Psychological impact of genetic results
- ●Possibility of finding variants of uncertain significance
- ●No direct therapeutic intervention for any identified mutation
Interfering Factors
- ●Hemolysed or degraded DNA samples leading to sequencing failure
- ●Contamination with DNA from other sources
- ●Presence of large deletions or duplications that may escape NGS detection
- ●Very low DNA concentration or purity below 1.7 A260/280
- ●Incorrect sample labeling or patient identification
Compare With Similar Tests
| Test | GNE Gene Inclusion body myopathy NGS Genetic Test | |||
|---|---|---|---|---|
| Comparison | GNE Gene Inclusion body myopathy NGS Genetic Test |
Frequently Asked Questions
What is the cost of the GNE Gene Inclusion Body Myopathy NGS Genetic Test at DNA Labs India?
What is GNE gene inclusion body myopathy?
How is the sample collected for this test?
Is fasting required for this test?
How long does it take to get the results?
Will I get the raw data files?
What does the GNE gene test detect?
Can this test be done for family members who are asymptomatic?
What is the difference between NGS and Sanger sequencing for GNE?
Are there any centres where this test is available?
Can this test detect all types of mutations?
Do I need a prescription from a doctor?
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