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ACTA1 Gene Myopathy, scapulohumeroperoneal NGS Genetic Test

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ACTA1 Gene Myopathy, scapulohumeroperoneal NGS Genetic Test

Short Name: ACTA1 Myopathy NGS Genetic Test

Also known as: Nemaline myopathy type 3 genetic test, ACTA1-related congenital myopathy NGS test, Scapulohumeroperoneal myopathy gene test

ACTA1 Gene Myopathy, scapulohumeroperoneal NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses Next Generation Sequencing (NGS) on Blood samples. Results in Reports are generally available in 3 to 4 weeks after the sample reaches the laboratory and the genetic analysis is completed.. 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

This test is intended to identify clinically significant variants in the ACTA1 gene in individuals with suspected ACTA1-related myopathy. It helps confirm the diagnosis, estimate recurrence risk, enable carrier testing in at-risk family members and guide disease management decisions.

Test Code
4391
Price
₹20,000
Sample Type
Blood
Result Time
Reports are generally available in 3 to 4 weeks after the sample reaches the laboratory and the genetic analysis is completed.
Fasting Required
No
Method
Next Generation Sequencing (NGS)
Step 1

Sample Collection

A genetic counselling session to draw a pedigree chart of family members affected with ACTA1 Gene Myopathy, scapulohumeroperoneal is required before testing. Please carry relevant clinical records and any prior family genetic test reports.

Method: Venipuncture

Step 2

Laboratory Analysis

A blood sample will be collected from a vein in the arm. The procedure takes about 5 to 10 minutes. Inform the phlebotomist if you have a bleeding disorder or are on blood thinners.

Step 3

Report Delivery

You can resume normal activities immediately after sample collection. The blood sample will be transported to the laboratory for NGS analysis.

Timeline: Reports are generally available in 3 to 4 weeks after the sample reaches the laboratory and the genetic analysis is completed.

Patient Instructions

1
Before the Test:A genetic counselling session to draw a pedigree chart of family members affected with ACTA1 Gene Myopathy, scapulohumeroperoneal is required before testing.
2
During the Test:A blood sample is collected by venipuncture and sent to the laboratory for NGS analysis.
3
After the Test:The laboratory will process the sample and release the report in 3 to 4 weeks. Post-test genetic counselling is recommended.

About This Test

Who Should Get This Test

This test is intended to identify clinically significant variants in the ACTA1 gene in individuals with suspected ACTA1-related myopathy. It helps confirm the diagnosis, estimate recurrence risk, enable carrier testing in at-risk family members and guide disease management decisions.

How to Prepare

  • Confirm the genetic counselling appointment before sample collection
  • No fasting is required
  • Use the labelled blood collection tube provided by the laboratory
  • Complete the informed consent and sample labelling process

Doctor's Notes

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

"In suspected neuromuscular disorders, NGS-based genetic testing can support a definitive diagnosis and guide surveillance and family counselling."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood
Sample VolumeWhole blood as per laboratory protocol
ContainerBlood collection tube
Collection MethodVenipuncture

Sample Stability

Whole blood should be transported as per the laboratory collection kit instructions
Do not freeze whole blood
Sample Rejection Criteria:
  • Hemolyzed or clotted blood sample
  • Unlabelled or mislabelled sample
  • Sample received without signed consent or counselling documentation
  • Expired or inappropriate collection tube

Understanding Your Results

This test should be interpreted in the context of clinical findings, family history and genetic counselling. A clinical geneticist or neurologist should explain the result and its implications.
📊

Consistent with ACTA1-related myopathy. Clinical correlation and genetic counselling are strongly recommended.

Result type: Pathogenic or likely pathogenic variant detected

📊

Insufficient evidence to classify the variant as disease-causing. Additional family studies or functional analysis may be required.

Result type: Variant of uncertain significance detected

📊

ACTA1-related myopathy is less likely, but not completely excluded. Consider a broader myopathy panel or further clinical evaluation.

Result type: No pathogenic variant detected

⚠️ When to Consult a Doctor:

If the test result shows a pathogenic variant, or if symptoms persist despite a negative genetic test, consult a neurologist or clinical geneticist for further evaluation and management.

Limitations

  • ⚠This test does not rule out all causes of myopathy
  • ⚠Absence of a pathogenic variant does not exclude ACTA1 gene-related disease
  • ⚠Non-coding or deep intronic variants may not be detected by standard NGS
  • ⚠Large structural rearrangements may require additional testing
  • ⚠Results should always be interpreted in the context of clinical findings and family history

Risks & Considerations

  • ●Minor pain or bruising at the blood collection site
  • ●No significant physical risk associated with the blood draw
  • ●Potential psychological impact of genetic results, including implications for family members

Interfering Factors

  • ●Low DNA concentration or degraded DNA
  • ●Incomplete NGS coverage in certain gene regions
  • ●Presence of large deletions or duplications not detectable by standard NGS
  • ●Prior allogeneic bone marrow transplant affecting blood DNA results

Compare With Similar Tests

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Frequently Asked Questions

What is ACTA1 gene myopathy?
ACTA1 gene myopathy is a rare genetic neuromuscular disorder caused by mutations in the ACTA1 gene. It includes nemaline myopathy type 3 and can present with muscle weakness, breathing difficulties, developmental delay and scapulohumeroperoneal muscle involvement.
Why is this NGS genetic test done?
This NGS test analyses the ACTA1 gene to detect pathogenic or likely pathogenic variants. It helps diagnose ACTA1-related myopathy, supports genetic counselling and may guide treatment and family planning decisions.
What is the cost of this ACTA1 NGS genetic test?
The test costs INR 20,000. Free home sample collection is included for online bookings. Additional charges, if any, depend on the laboratory and genetic counselling services.
Is fasting required before the test?
No. Fasting is not required for this blood-based genetic test. You can eat and drink normally before sample collection.
What sample is collected for the test?
A blood sample is collected. A genetic counselling session and family pedigree documentation are part of the pre-test process.
How long will the reports take?
Reports are usually available in 3 to 4 weeks after the sample reaches the laboratory and the NGS analysis is completed.
Who should consider this genetic test?
Individuals with symptoms suggestive of ACTA1-related myopathy, people with a family history of the condition, and couples planning pregnancy risk assessment may consider this test after genetic counselling.
Does the test detect all types of ACTA1 mutations?
NGS can detect most single nucleotide variants and small insertions or deletions in the ACTA1 gene. It may not reliably detect large deletions, duplications or deep intronic variants. Your genetic counsellor can explain the limitations.
Where is this test available in India?
The test is available across India, with home sample collection in major cities including Mumbai, Delhi, Bangalore, Hyderabad, Chennai, Kolkata, Pune, Jaipur, Ahmedabad and many other locations.
Is home sample collection available?
Yes, free home sample collection is provided for online bookings for this ACTA1 NGS genetic test across listed Indian cities.
Are there any risks from the test?
The main risk is minor pain or bruising at the blood collection site. Genetic testing also has implications for family members, so results should be discussed with a genetic specialist.
Do I need genetic counselling after the result?
Yes, post-test genetic counselling is strongly recommended to understand the result, the recurrence risk and any implications for at-risk relatives.
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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