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ACTA1 Gene Myopathy with fiber-type disproportion NGS Genetic Test

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ACTA1 Gene Myopathy with fiber-type disproportion NGS Genetic Test

Short Name: ACTA1 Myopathy NGS Test

Also known as: ACTA1-related congenital myopathy, Nemaline myopathy type 3

ACTA1 Gene Myopathy with fiber-type disproportion NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses Next-Generation Sequencing (NGS), Sanger sequencing for confirmation on Blood 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

The purpose of this test is to identify mutations in the ACTA1 gene that cause myopathy with fiber-type disproportion, aiding in accurate diagnosis, prognosis, and family genetic counseling.

Test Code
1752
ICD Code
G71.0
Price
₹20,000
Sample Type
Blood
Result Time
3 to 4 Weeks
Fasting Required
No
Method
Next-Generation Sequencing (NGS), Sanger sequencing for confirmation
Step 1

Sample Collection

No specific preparation required. Inform the technician about any medications or health conditions.

Method: Venipuncture

Step 2

Laboratory Analysis

A blood sample will be collected via venipuncture by a trained phlebotomist. The procedure takes a few minutes.

Step 3

Report Delivery

Apply pressure to the puncture site with a cotton ball to prevent bruising. Avoid heavy lifting for a few hours.

Timeline: 3 to 4 Weeks

Patient Instructions

1
Before the Test:No fasting required. Provide clinical history and family pedigree for accurate interpretation.
2
During the Test:Blood sample collection takes a few minutes. Minimal discomfort.
3
After the Test:Resume normal activities. Monitor puncture site for any unusual symptoms.

About This Test

Who Should Get This Test

The purpose of this test is to identify mutations in the ACTA1 gene that cause myopathy with fiber-type disproportion, aiding in accurate diagnosis, prognosis, and family genetic counseling.

How to Prepare

  • No fasting needed
  • Bring a valid ID and prescription
  • Wear loose clothing for easy access to arms

Doctor's Notes

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

"Early genetic diagnosis can guide management and family planning for hereditary myopathies."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood
Sample Volume5 mL
ContainerEDTA tube
Collection MethodVenipuncture

Sample Stability

Blood sample stable at room temperature for 24 hours
Store at 2-8°C if delayed
Sample Rejection Criteria:
  • Hemolyzed sample
  • Insufficient sample volume
  • Incorrect container used

Understanding Your Results

Results indicate the presence or absence of pathogenic variants in the ACTA1 gene. Consult a genetic specialist for detailed interpretation.
📊

Pathogenic variant detected

Confirms diagnosis of ACTA1 gene myopathy. Further clinical evaluation recommended.

📊

Likely pathogenic variant detected

Suggestive of diagnosis; additional testing or family studies may be advised.

📊

No pathogenic variant detected

Rules out ACTA1 gene mutation; consider other genetic or non-genetic causes.

⚠️ When to Consult a Doctor:

If symptoms worsen, new symptoms appear, or for genetic counseling after receiving test results.

Limitations

  • ⚠May not detect all possible ACTA1 gene variants
  • ⚠Results require clinical correlation for diagnosis
  • ⚠False negatives can occur in rare cases

Risks & Considerations

  • ●Minor bruising at puncture site
  • ●Rare infection risk
  • ●Fainting or dizziness during blood draw

Interfering Factors

  • ●Hemolyzed or clotted blood sample
  • ●Contaminated sample
  • ●Improper sample storage

Compare With Similar Tests

TestACTA1 Gene Myopathy with fiber-type disproportion NGS Genetic TestMuscle BiopsyElectromyography (EMG)Creatine Kinase TestWhole Exome Sequencing
ComparisonACTA1 Gene Myopathy with fiber-type disproportion NGS Genetic Test

Frequently Asked Questions

What is ACTA1 Gene Myopathy with Fiber-Type Disproportion?
It is a rare genetic disorder caused by mutations in the ACTA1 gene, leading to muscle weakness and other symptoms due to impaired actin protein function.
What are the common symptoms of this condition?
Symptoms include muscle weakness, delayed motor milestones, poor muscle tone, difficulty walking, breathing issues, and facial weakness.
How is ACTA1 Gene Myopathy diagnosed?
Diagnosis involves physical examination, EMG, muscle biopsy, and genetic testing like NGS to identify ACTA1 gene mutations.
What is the NGS Genetic Test for this disorder?
Next-generation sequencing (NGS) is a highly accurate method to detect mutations in the ACTA1 gene, providing definitive diagnosis.
What is the cost of this test at DNA Labs India?
The test costs INR 20,000, inclusive of home sample collection across India.
Is fasting required before the test?
No, fasting is not required. The test involves a simple blood draw.
How long does it take to get results?
Results are typically available within 3 to 4 weeks after sample collection.
Can this test be done at home?
Yes, DNA Labs India offers free home sample collection for this test in many cities across India.
What does a positive result mean?
A positive result indicates the presence of a pathogenic variant in the ACTA1 gene, confirming the diagnosis of the myopathy.
Are there any risks associated with the test?
The test involves minimal risks such as bruising or infection at the blood draw site, which are rare.
How should I prepare for the test?
No special preparation is needed. Bring your ID and prescription, and inform the technician of any health conditions.
Is genetic counseling recommended after testing?
Yes, genetic counseling is advised to understand results, implications, and family planning options.
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

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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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