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MYH7 Gene Myosin storage myopathy NGS Genetic Test

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MYH7 Gene Myosin storage myopathy NGS Genetic Test

Short Name: MYH7 Myopathy NGS

Also known as: Myosin storage myopathy genetic test, MYH7-related myopathy NGS, MYH7 gene sequencing test

MYH7 Gene Myosin storage myopathy NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses Next Generation Sequencing (NGS), Sanger sequencing for confirmation on Blood or Extracted DNA or One drop Blood on FTA Card samples. Results in 3 to 4 weeks after the sample reaches the laboratory.. Free home collection in 300+ cities across India.

NGS Genetic TestAll Ages🏠 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 confirm or exclude a diagnosis of MYH7-related myosin storage myopathy in individuals with suggestive muscle symptoms, family history, or inconclusive muscle biopsy. This NGS test helps identify the genetic cause and permits recurrence-risk counselling for the family.

Test Code
4389
Price
₹20,000
Sample Type
Blood or Extracted DNA or One drop Blood on FTA Card
Result Time
3 to 4 weeks after the sample reaches the laboratory.
Fasting Required
No
Method
Next Generation Sequencing (NGS), Sanger sequencing for confirmation
Step 1

Sample Collection

No fasting required. A genetic counselling session is recommended to draw a pedigree chart and discuss the inheritance pattern. Please bring relevant clinical records and family history details.

Method: Peripheral blood draw / FTA card blood spot

Step 2

Laboratory Analysis

Blood sample is collected by venipuncture. For FTA card, only a few drops of blood are placed on the card. The procedure is quick and does not require any special preparation.

Step 3

Report Delivery

The sample will be sent to the laboratory. Reports are usually available within 3 to 4 weeks. The referring doctor or a clinical geneticist will help interpret the result.

Timeline: 3 to 4 weeks after the sample reaches the laboratory.

Patient Instructions

1
Before the Test:No fasting is needed. A pre-test genetic counselling session is strongly recommended to understand benefits, risks, limitations and inheritance patterns.
2
During the Test:A blood sample will be collected by a trained phlebotomist, or an FTA card blood spot will be prepared. The process is safe and takes only a few minutes.
3
After the Test:The laboratory will process the sample using NGS technology. The report and raw data files will be shared once analysis and clinical interpretation are complete.

About This Test

Who Should Get This Test

To confirm or exclude a diagnosis of MYH7-related myosin storage myopathy in individuals with suggestive muscle symptoms, family history, or inconclusive muscle biopsy. This NGS test helps identify the genetic cause and permits recurrence-risk counselling for the family.

How to Prepare

  • Fasting is not required
  • Inform the laboratory about any prior genetic testing or haematological conditions
  • For FTA card samples, allow the blood spot to dry before packing
  • All samples must be labelled with the patient's full name and unique ID

Doctor's Notes

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

"Genetic testing for MYH7-related myopathy is best interpreted with formal clinical phenotyping and a multidisciplinary approach."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
Sample Volume2-3 ml blood / as per laboratory requirement
ContainerEDTA vacutainer / FTA card
Collection MethodPeripheral blood draw / FTA card blood spot

Sample Stability

Whole blood EDTA
FTA card blood spot
Extracted DNA
Sample Rejection Criteria:
  • Clotted sample
  • Haemolysed sample
  • Insufficient quantity of blood or DNA
  • Mislabelled sample
  • Leaking collection tube or damaged FTA card

Understanding Your Results

The test identifies clinically significant variants in the MYH7 gene. Variants are classified as pathogenic, likely pathogenic, benign, likely benign or variant of uncertain significance according to accepted medical genetics guidelines.
📊

Consistent with MYH7-related myopathy. Clinical correlation is needed and family segregation testing may be offered.

📊

Insufficient evidence to classify the variant. Further family studies, functional evidence or additional genetic testing may be required.

📊

No causative abnormality identified. Other genetic or nongenetic causes should be considered.

⚠️ When to Consult a Doctor:

Consult a neurologist or clinical geneticist if there is persistent proximal muscle weakness, elevated creatine kinase, breathing or swallowing difficulty, or a known family history of myopathy. Genetic counselling is recommended before testing and after the results are available.

Limitations

  • ⚠This test does not detect large deletions or duplications unless requested separately
  • ⚠Sequence variants outside coding and flanking splice-site regions may not be reported
  • ⚠A negative result does not exclude a genetic cause in another gene
  • ⚠Variants of uncertain significance require additional clinical and family correlation

Risks & Considerations

  • ●Minimal risk from blood draw
  • ●Fainting or bruising at venipuncture site
  • ●Psychological distress from an uncertain or predictive result

Interfering Factors

  • ●Presence of homologous sequences may affect alignment in rare cases
  • ●Poor DNA quality or insufficient quantity
  • ●Mosaicism may lead to lower variant detection sensitivity
  • ●Variants of uncertain significance may require family segregation studies

Compare With Similar Tests

TestMYH7 Gene Myosin storage myopathy NGS Genetic Test
ComparisonMYH7 Gene Myosin storage myopathy NGS Genetic Test

Frequently Asked Questions

What is MYH7 gene myosin storage myopathy?
It is a rare inherited muscle disorder caused by mutations in the MYH7 gene. The abnormal beta-myosin heavy chain protein accumulates in muscle fibres leading to weakness, breathing or swallowing problems, and sometimes heart involvement.
What does the MYH7 NGS genetic test do?
It uses next-generation sequencing to read the MYH7 gene's coding regions and look for disease-causing changes. If a variant is found, it is classified using current medical genetics guidelines.
What is the cost of this test at DNA Labs India?
The special discounted price is Rs 20000, which includes the NGS genetic test. Home sample collection is free for online bookings in many cities.
Which sample is required?
The test can be done on whole blood, extracted DNA, or one drop of blood on an FTA card. The sample type is confirmed by the laboratory before collection.
Is fasting required before the test?
No. This is a DNA test and does not need fasting or any change in diet.
How long will the report take?
Reports are generally available in 3 to 4 weeks because the gene is fully sequenced and the findings are interpreted carefully.
Will I receive raw data with my report?
Yes. DNA Labs India shares the raw data, FASTQ and VCF files along with the clinical report for transparency and further analysis if needed.
Can this test detect all MYH7 mutations?
NGS detects most sequence variations in the coding and flanking splice-site regions. It may not detect large structural rearrangements unless separate analysis is done. No test can identify every possible genetic change.
Who is an appropriate person for this test?
People with unexplained proximal muscle weakness, suspected myopathy, high CPK, a muscle biopsy showing myosin storage, or a family history of MYH7-related muscle disease are appropriate candidates.
Is genetic counselling necessary before testing?
Yes. Genetic counselling helps draw a pedigree and explains the possible outcomes, inheritance pattern and implications for family members.
Does insurance cover the cost?
Insurance coverage varies. Some private plans may cover genetic testing if ordered as medically necessary; government schemes may or may not cover it. It is advisable to check with the insurer.
What does a positive result mean?
A pathogenic or likely pathogenic MYH7 variant is consistent with the diagnosis. A negative result does not completely exclude myopathy and may require looking at other genes or re-evaluating the clinical picture.
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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