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MYOT Gene Spheroid body myopathy NGS Genetic Test

DNA Labs India | ISO 9001:2015 Certified

MYOT Gene Spheroid body myopathy NGS Genetic Test

Short Name: MYOT Gene SBM NGS Test

Also known as: MYOT gene mutation test, Spheroid body myopathy genetic test

MYOT Gene Spheroid body myopathy NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses NGS Technology on Blood or Extracted DNA or One drop Blood on FTA Card samples. Results in 3 to 4 Weeks. Free home collection in 300+ cities across India.

NGS Genetic Test🏠 Home Collection

✍️ Written By

🩺 Medically Reviewed By

Dr SULOCHANA HEMCHANDRA HOLLA

Dr SULOCHANA HEMCHANDRA HOLLA

Consultant Medical Geneticist · Reg: 8532

Last reviewed: September 7, 2026

Overview

To diagnose Spheroid body myopathy by identifying pathogenic mutations in the MYOT gene using next-generation sequencing, aiding in clinical management and genetic counseling.

Test Code
1830
Price
₹20,000
Sample Type
Blood or Extracted DNA or One drop Blood on FTA Card
Result Time
3 to 4 Weeks
Fasting Required
No
Method
NGS Technology
Step 1

Sample Collection

Genetic counseling recommended to discuss test implications and draw a pedigree chart of affected family members.

Method: Phlebotomy for blood samples

Step 2

Laboratory Analysis

Standard blood draw or collection of DNA sample as per specified methods.

Step 3

Report Delivery

Sample is processed in the laboratory; results are reviewed and reported by experts.

Timeline: 3 to 4 Weeks

Patient Instructions

1
Before the Test:Genetic counseling to discuss test benefits, risks, and implications; provide clinical and family history.
2
During the Test:Blood sample collection or DNA extraction performed by trained personnel.
3
After the Test:Wait for results; schedule follow-up with a healthcare provider for interpretation and next steps.

About This Test

Who Should Get This Test

To diagnose Spheroid body myopathy by identifying pathogenic mutations in the MYOT gene using next-generation sequencing, aiding in clinical management and genetic counseling.

How to Prepare

  • For blood samples: Use EDTA tubes or FTA cards as appropriate
  • Ensure proper labeling and documentation
  • Store samples at ambient room temperature until shipment

Doctor's Notes

Reviewed by — MBBS, MD (Medical Genetics) · Reg. No. 8532

"Early genetic diagnosis of MYOT-related myopathies can guide management and family counseling, improving patient outcomes."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
Collection MethodPhlebotomy for blood samples

Sample Stability

Blood samples stable for 7 days at 2-8°C
Extracted DNA stable for longer periods at -20°C
Sample Rejection Criteria:
  • Hemolyzed or clotted blood samples
  • Insufficient sample volume
  • Incorrectly labeled or contaminated samples

Understanding Your Results

Genetic test results indicate the presence or absence of pathogenic mutations in the MYOT gene. A positive result confirms Spheroid body myopathy, while a negative result may not rule out the disorder if other genes are involved.
📊

Confirms diagnosis of MYOT-related Spheroid body myopathy; recommend genetic counseling and management.

📊

No mutations detected in the MYOT gene; clinical evaluation and other tests may be needed.

📊

Further testing or family studies recommended for clarification.

⚠️ When to Consult a Doctor:

If symptoms such as muscle weakness, swallowing difficulties, or heart issues persist, or if genetic testing is recommended due to family history.

Limitations

  • ⚠NGS may not detect all types of genetic variations, such as large deletions or duplications
  • ⚠Results require clinical correlation and genetic counseling
  • ⚠Test is specific to the MYOT gene and may not cover other causes of similar symptoms

Risks & Considerations

  • ●Minimal risks from blood draw, such as bruising or infection
  • ●Psychological impact of genetic results

Interfering Factors

  • ●Degraded or insufficient DNA sample quality
  • ●Contamination during sample collection or processing

Frequently Asked Questions

What is Spheroid body myopathy (SBM)?
SBM is a rare genetic disorder causing progressive muscle weakness and wasting due to mutations in the MYOT gene, which encodes the myotilin protein essential for muscle fiber integrity.
What does the MYOT Gene test involve?
The test uses next-generation sequencing (NGS) to analyze the MYOT gene for pathogenic mutations associated with Spheroid body myopathy, providing a comprehensive molecular diagnosis.
What is the cost of this test?
The MYOT Gene Spheroid body myopathy NGS Genetic Test costs INR 20000, which includes sample collection, laboratory analysis, and a detailed report.
How is the sample collected?
Samples can be blood, extracted DNA, or one drop of blood on an FTA card. DNA Labs India offers free home collection services across many Indian cities.
Is fasting required before the test?
No, fasting is not required for this genetic test. You may eat and drink normally before sample collection.
How long does it take to get results?
Results are typically available within 3 to 4 weeks from the date of sample collection.
Who should consider this test?
Individuals experiencing symptoms like progressive muscle weakness, difficulty swallowing, breathing problems, heart complications, or those with a family history of myotilinopathy or similar neuromuscular disorders should consider this test.
What if the test result is positive?
A positive result confirms a diagnosis of MYOT-related Spheroid body myopathy. Your physician will recommend genetic counseling, management strategies, and family screening options.
Is the test accurate?
NGS technology provides high analytical accuracy for detecting mutations in the MYOT gene. However, results should always be interpreted alongside clinical findings by a qualified healthcare professional.
Does insurance cover this test?
Coverage varies by insurer and policy. You should check with your insurance provider and government schemes like PMJAY, CGHS, ECHS, or ESIC for potential reimbursement options.
Can I get home sample collection?
Yes, DNA Labs India offers free home sample collection services across numerous Indian cities for your convenience.
What are the risks of the test?
Physical risks are minimal and limited to the blood draw, such as minor bruising. There may be psychological impacts related to receiving genetic results, which is why genetic counseling is recommended before and after testing.
Worried about the process? Our certified phlebotomists collect thousands of samples every month across India. The process takes under 5 minutes and is virtually painless. Questions? Message us on WhatsApp — we're here 7 days a week.

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For Hospitals & Clinics

Reference Laboratory Services

We serve as a reference laboratory for hospitals and clinics across India. Send samples from your facility with same-day pickup, priority processing, and results delivered through our online portal. Competitive institutional pricing available.

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