DES Gene Myopathy, myofibrillar, Desmin related NGS Genetic Test
Short Name: DES Gene NGS Test
Also known as: DES Gene Myopathy, Myofibrillar Myopathy, Desmin-related Myopathy
DES Gene Myopathy, myofibrillar, Desmin related 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 Reports are typically available within 3 to 4 weeks after sample reaches the lab.. 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 DES Gene Myopathy NGS Genetic Test is to identify pathogenic variants in the DES gene associated with desmin-related myofibrillar myopathy, confirm clinical suspicion, aid in family cascade screening, and inform reproductive decisions.
- Test Code
- 4381
- ICD Code
- G71.9
- Price
- ₹20,000
- Sample Type
- Blood or Extracted DNA or One drop Blood on FTA Card
- Result Time
- Reports are typically available within 3 to 4 weeks after sample reaches the lab.
- Fasting Required
- No
- Method
- Next Generation Sequencing (NGS)
Sample Collection
No fasting required. Maintain your usual medication schedule unless advised otherwise by your physician. A genetic counseling session is recommended before the test.
Method: Peripheral blood draw / dried blood spot
Laboratory Analysis
A trained phlebotomist will collect a small blood sample or dried blood spot. The procedure is quick and causes minimal discomfort.
Report Delivery
No special precautions required. You may resume normal activities immediately. Your sample will be transported to the laboratory for genetic analysis.
Timeline: Reports are typically available within 3 to 4 weeks after sample reaches the lab.
Patient Instructions
About This Test
Who Should Get This Test
The purpose of DES Gene Myopathy NGS Genetic Test is to identify pathogenic variants in the DES gene associated with desmin-related myofibrillar myopathy, confirm clinical suspicion, aid in family cascade screening, and inform reproductive decisions.
How to Prepare
- Blood sample should be collected in an EDTA vacutainer
- For FTA card, apply one drop of blood on the designated area
- Label the sample with patient name and date of birth
- Maintain sample at room temperature if shipped same day
Doctor's Notes
Reviewed by Dr SULOCHANA HEMCHANDRA HOLLA — MBBS, MD (Medical Genetics) · Reg. No. 8532
"Genetic testing for DES gene myopathy is critical for early diagnosis and informed family planning. I always recommend patients to undergo genetic counseling alongside the test."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Hemolyzed or clotted blood sample
- Incorrectly labeled sample
- Insufficient sample quantity
- Sample transported in a leaking container
Understanding Your Results
No pathogenic variants detected
No disease-causing change was found in the DES gene. Clinical diagnosis should be reassessed if symptoms strongly suggest myofibrillar myopathy.
Pathogenic or likely pathogenic variant detected
Confirms the genetic diagnosis. Genetic counseling and family testing are recommended.
Variant of uncertain significance (VUS) detected
The variant's clinical significance is not yet known. Further testing of family members may help clarify its role.
Large deletion/duplication not detected
NGS is not optimal for large gene rearrangements; additional testing may be advised if suspicion remains.
Consult a neurologist or geneticist if you or a family member experiences progressive muscle weakness, unexplained cardiomyopathy, or swallowing difficulties. Genetic counseling is recommended before and after testing.
Limitations
- ⚠NGS is not designed to detect large deletions/duplications, deep intronic mutations, or repeat expansions
- ⚠Pathogenic variants may exist in other genes not covered by this targeted test
- ⚠Variants of uncertain significance may require further analysis
- ⚠This test does not measure desmin protein level or muscle histology
Risks & Considerations
- ●Mild pain at the needle site
- ●Bruising
- ●Infection (rare)
Interfering Factors
- ●Poor DNA quality or quantity
- ●Contamination during sample collection
- ●Recent bone marrow transplant (for blood samples)
- ●Maternal cell contamination if amniotic sample is used
Compare With Similar Tests
| Test | DES Gene Myopathy, myofibrillar, Desmin related NGS Genetic Test | Sanger Sequencing | Muscle Biopsy |
|---|---|---|---|
| Comparison | DES Gene Myopathy, myofibrillar, Desmin related NGS Genetic Test |
Frequently Asked Questions
What is DES gene myopathy?
What is the cost of the DES Gene Myopathy NGS test at DNA Labs India?
What sample is required?
Is fasting required?
How long does it take to get results?
Who should take this test?
Does this test detect all genetic causes of myopathy?
How accurate is the NGS test?
Will insurance cover the test?
Do I need genetic counseling?
What does a negative result mean?
Can children be tested?
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