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MYH7 Gene Myopathy, distal type 1 NGS Genetic Test

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MYH7 Gene Myopathy, distal type 1 NGS Genetic Test

Short Name: MYH7 Distal Myopathy NGS Test

Also known as: Distal Myopathy Type 1, MYH7 Myopathy, Hereditary Distal Myopathy

MYH7 Gene Myopathy, distal type 1 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 TestAdult🏠 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 identify pathogenic mutations in the MYH7 gene for the diagnosis of distal myopathy type 1, aiding in clinical management, genetic counseling, and family planning.

Test Code
1756
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

Provide detailed clinical history and undergo a genetic counseling session to draw a family pedigree chart if applicable.

Method: Venipuncture or FTA Card Collection

Step 2

Laboratory Analysis

Blood sample collected via venipuncture or one drop on FTA card by a trained phlebotomist.

Step 3

Report Delivery

Apply pressure to the puncture site to prevent bruising; avoid strenuous activity for a few hours.

Timeline: 3 to 4 Weeks

Patient Instructions

1
Before the Test:Genetic counseling and review of clinical history and family pedigree.
2
During the Test:DNA extraction from blood sample followed by next-generation sequencing and bioinformatics analysis.
3
After the Test:Results are reviewed by experts and a clinical report is generated, followed by genetic counseling if needed.

About This Test

Who Should Get This Test

To identify pathogenic mutations in the MYH7 gene for the diagnosis of distal myopathy type 1, aiding in clinical management, genetic counseling, and family planning.

How to Prepare

  • Submit clinical history of patient
  • Complete genetic counseling session
  • Ensure proper sample labeling and handling

Doctor's Notes

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

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
Collection MethodVenipuncture or FTA Card Collection

Sample Stability

Blood samples stable at ambient room temperature for up to 24 hours
Extracted DNA stable at -20°C for long-term storage
Sample Rejection Criteria:
  • Insufficient sample volume
  • Hemolyzed or clotted blood sample
  • Contaminated or mislabeled samples

Understanding Your Results

Results from NGS Genetic Testing indicate the presence or absence of mutations in the MYH7 gene, which are associated with distal myopathy type 1.
Positive result: Pathogenic mutation detected, confirming diagnosis; recommend genetic counseling and family screening.
Negative result: No pathogenic mutations found; clinical correlation with symptoms advised.
Variant of uncertain significance (VUS): Further testing or family studies may be needed for clarification.
⚠️ When to Consult a Doctor:

Consult a neurologist or genetic specialist if symptoms of muscle weakness or wasting are present, or to discuss test results for management and counseling.

Limitations

  • ⚠May not detect all types of genetic variations, such as large deletions or duplications
  • ⚠Results require interpretation by a genetic counselor or specialist
  • ⚠Not a standalone diagnostic tool; clinical correlation is essential

Risks & Considerations

  • ●Minimal risk of bruising or infection at blood draw site
  • ●Psychological impact of genetic results; counseling recommended

Interfering Factors

  • ●DNA degradation due to improper sample handling
  • ●Sample contamination during collection or transport
  • ●Technical errors in NGS sequencing process

Compare With Similar Tests

TestMYH7 Gene Myopathy, distal type 1 NGS Genetic TestMuscle BiopsyEMG TestCK Blood Test
ComparisonMYH7 Gene Myopathy, distal type 1 NGS Genetic Test

Frequently Asked Questions

What is MYH7 Gene Myopathy, distal type 1?
It is a rare genetic disorder caused by mutations in the MYH7 gene, leading to muscle weakness and wasting, typically in adulthood.
What are the common symptoms of this condition?
Symptoms include muscle weakness, difficulty walking, frequent falls, grip problems, and muscle wasting in legs or hands.
How is MYH7 Gene Myopathy diagnosed?
Diagnosis involves clinical evaluation, genetic testing (like NGS), and sometimes muscle biopsy to confirm mutations.
What does NGS Genetic Testing involve?
Next-generation sequencing (NGS) analyzes DNA samples to detect mutations in the MYH7 gene with high accuracy.
What is the cost of the NGS Genetic Test in India?
The test costs approximately INR 20,000 at DNA Labs India, including home sample collection.
Is home sample collection available for this test?
Yes, DNA Labs India offers free home sample collection across India for online bookings.
How long does it take to get the test results?
Results are typically available within 3 to 4 weeks after sample collection.
What do the test results indicate?
Results show whether pathogenic mutations in the MYH7 gene are detected, aiding in diagnosis and management.
Is genetic counseling required before the test?
Yes, a genetic counseling session is recommended to review clinical history and draw a family pedigree chart.
Who should consider getting this genetic test?
Individuals with symptoms of distal myopathy, family history of the condition, or unexplained neuromuscular issues.
Are there any risks associated with the test?
The test involves a simple blood draw with minimal risks like bruising; psychological support is advised for result interpretation.
What if the test results are negative?
A negative result means no pathogenic mutations were found, but clinical correlation with symptoms is necessary for accurate diagnosis.
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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Your medical data is protected under Indian law.

✓ Stored in India: All patient records are stored on servers located in India. No data is transferred outside the country.

✓ DPDP Act Compliant: Under the Digital Personal Data Protection Act 2023, you can request deletion of your records at any time by contacting support.

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