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ACTA1 Gene Nemaline myopathy type 3 NGS Genetic Test

DNA Labs India | ISO 9001:2015 Certified

ACTA1 Gene Nemaline myopathy type 3 NGS Genetic Test

Short Name: ACTA1 Gene NGS Test

Also known as: ACTA1 Gene Test, Nemaline Myopathy Type 3 Genetic Test, ACTA1 Mutation Analysis

ACTA1 Gene Nemaline myopathy type 3 NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses NGS Technology on Blood samples. Results in 3-4 weeks. Free home collection in 300+ cities across India.

NGS Genetic Test🏠 Home Collection

✍️ Written By

🩺 Medically Reviewed By

Dr Pasupathy Arumugam

Dr Pasupathy Arumugam

Consultant Pathologist · Reg: 21521

Last reviewed: September 7, 2026

Overview

To detect mutations in the ACTA1 gene for the diagnosis of nemaline myopathy type 3, aiding in clinical management and genetic counseling for patients and families.

Test Code
1768
Price
₹20,000
Sample Type
Blood
Result Time
3-4 weeks
Fasting Required
No
Method
NGS Technology
Step 1

Sample Collection

No special preparation required. Provide detailed clinical history and undergo a genetic counseling session to draw a family pedigree chart.

Method: Venipuncture

Step 2

Laboratory Analysis

A blood sample will be drawn by a trained phlebotomist using standard venipuncture procedures.

Step 3

Report Delivery

Apply pressure to the puncture site to prevent bruising. Monitor for any signs of infection or discomfort.

Timeline: 3-4 weeks

Patient Instructions

1
Before the Test:Consult a genetic counselor to discuss symptoms, family history, and implications of test results.
2
During the Test:A simple blood draw is performed, taking only a few minutes with minimal discomfort.
3
After the Test:Wait for 3-4 weeks for results. Follow up with your healthcare provider to discuss findings and next steps.

About This Test

Who Should Get This Test

To detect mutations in the ACTA1 gene for the diagnosis of nemaline myopathy type 3, aiding in clinical management and genetic counseling for patients and families.

How to Prepare

  • Avoid vigorous physical activity before sample collection
  • Inform the healthcare provider about any medications or supplements
  • Ensure proper identification and labeling of the sample

Doctor's Notes

Reviewed by — MBBS, MD (Pathology) · Reg. No. 21521

"This test is crucial for diagnosing nemaline myopathy and guiding treatment. Consult a genetic counselor for family planning and management options."

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 up to 24 hours
Refrigerate at 2-8°C if analysis is delayed beyond 24 hours
Sample Rejection Criteria:
  • Hemolyzed or clotted samples
  • Insufficient sample volume
  • Improperly labeled or contaminated samples

Understanding Your Results

Results from the ACTA1 Gene NGS Genetic Test indicate the presence or absence of mutations. Interpretation should be done by a qualified genetic specialist.
Positive: Pathogenic mutation detected, confirming diagnosis of nemaline myopathy type 3
Negative: No pathogenic mutations detected, but clinical correlation is necessary
Variant of uncertain significance: Requires further testing or genetic counseling for clarification
⚠️ When to Consult a Doctor:

If you or your child exhibit symptoms such as muscle weakness, delayed development, or breathing difficulties, or if there is a family history of nemaline myopathy, consult a healthcare provider promptly.

Limitations

  • ⚠May not detect all genetic variants
  • ⚠Interpretation requires genetic counseling
  • ⚠Not intended for prenatal diagnosis unless specifically indicated

Risks & Considerations

  • ●Minor bruising or pain at the puncture site
  • ●Slight risk of infection
  • ●Rarely, fainting during blood draw

Interfering Factors

  • ●Sample contamination
  • ●DNA degradation
  • ●Hemolysis in blood sample

Compare With Similar Tests

TestACTA1 Gene Nemaline myopathy type 3 NGS Genetic TestMuscle BiopsyOther Genetic Panels
ComparisonACTA1 Gene Nemaline myopathy type 3 NGS Genetic Test

Frequently Asked Questions

What is the ACTA1 Gene Nemaline Myopathy Type 3 NGS Genetic Test?
It is a genetic test that uses next-generation sequencing to detect mutations in the ACTA1 gene, which cause nemaline myopathy type 3, a rare muscle disorder.
How much does the test cost in India?
The cost is approximately INR 20,000, with free home sample collection available across India at DNA Labs India.
What are the symptoms of nemaline myopathy type 3?
Symptoms include muscle weakness at birth, delayed motor milestones, difficulty swallowing or breathing, scoliosis, and joint contractures.
How is the test performed?
A blood sample is collected and analyzed using NGS technology to identify mutations in the ACTA1 gene.
Is fasting required for the test?
No, fasting is not required for this genetic test.
What is the turnaround time for results?
Results are typically available within 3 to 4 weeks after sample collection.
Is home sample collection available?
Yes, DNA Labs India offers free home sample collection for online bookings in many cities across India.
How accurate is the test?
The test is highly accurate due to NGS technology, but interpretation should be done by a genetic specialist.
Who should consider this test?
Individuals with symptoms of nemaline myopathy, a family history of the disorder, or those seeking genetic counseling for family planning.
What do the results mean?
A positive result indicates a pathogenic mutation in the ACTA1 gene, confirming diagnosis. Negative results require clinical correlation, and variants of uncertain significance need further evaluation.
Can this test be used for prenatal diagnosis?
It is not typically used for prenatal diagnosis unless specifically indicated and discussed with a genetic counselor.
Is genetic counseling provided with the test?
Yes, genetic counseling is recommended and may be included as part of the testing process to help interpret results and discuss implications.
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.

LIMS Integration

Your Data Privacy

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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