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ACTG2 Gene Visceral myopathy NGS Genetic Test

DNA Labs India | ISO 9001:2015 Certified

ACTG2 Gene Visceral myopathy NGS Genetic Test

Short Name: ACTG2 NGS Test

Also known as: ACTG2 Gene Sequencing, Visceral Myopathy Genetic Test, ACTG2 Mutation Analysis

ACTG2 Gene Visceral myopathy NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses Next-Generation Sequencing (NGS) on Blood samples. Results in 3 to 4 weeks. Free home collection in 300+ cities across India.

NGS Genetic Test🏠 Home Collection

🩺 Medically Reviewed By

Overview

The purpose of this test is to confirm a clinical diagnosis of visceral myopathy by identifying pathogenic variants in the ACTG2 gene. It also aids in carrier detection, prenatal diagnosis, and risk assessment for at-risk family members.

Test Code
5976
CPT Code
81407
ICD Code
K59.8
Price
₹20,000
Sample Type
Blood
Result Time
3 to 4 weeks
Fasting Required
No
Method
Next-Generation Sequencing (NGS)
Step 1

Sample Collection

No special preparation required. Inform your doctor about any medications or supplements you are taking.

Method: Venipuncture

Step 2

Laboratory Analysis

A blood sample will be drawn from a vein in your arm. The procedure is quick and minimally invasive.

Step 3

Report Delivery

You may resume normal activities immediately. There are no restrictions.

Timeline: 3 to 4 weeks

Patient Instructions

1
Before the Test:No special preparation required. Ensure you have a valid doctor's prescription.
2
During the Test:A blood sample is collected by a trained phlebotomist.
3
After the Test:You can resume normal activities. Results will be shared within 3-4 weeks.

About This Test

Who Should Get This Test

The purpose of this test is to confirm a clinical diagnosis of visceral myopathy by identifying pathogenic variants in the ACTG2 gene. It also aids in carrier detection, prenatal diagnosis, and risk assessment for at-risk family members.

How to Prepare

  • No fasting required
  • Avoid alcohol for 24 hours prior
  • Ensure proper identification
  • Sample must reach lab within 24 hours

Doctor's Notes

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

"Visceral myopathy is a rare autosomal dominant disorder caused by ACTG2 mutations. Genetic testing is essential for definitive diagnosis and family counseling."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood
Sample Volume2-3 ml
ContainerEDTA vacutainer
Collection MethodVenipuncture

Sample Stability

Room temperature: 24 hours
Refrigerated (2-8°C): 72 hours
Frozen (-20°C): 1 week
Sample Rejection Criteria:
  • Hemolyzed sample
  • Clotted sample
  • Insufficient quantity
  • Improper labeling

Understanding Your Results

The test results are interpreted by a board-certified geneticist. Variants are classified according to ACMG guidelines. A positive result confirms the diagnosis of visceral myopathy, while a negative result reduces the likelihood of ACTG2-related disease.
📊

Pathogenic variant detected

Confirms diagnosis of visceral myopathy. Genetic counseling recommended for family members.

📊

Likely pathogenic variant detected

Highly suggestive of disease. Further testing may be needed for confirmation.

📊

Variant of uncertain significance (VUS)

Cannot determine clinical significance. Additional family studies may help.

📊

No pathogenic variant detected

No evidence of ACTG2-related visceral myopathy. Other genetic or non-genetic causes should be considered.

⚠️ When to Consult a Doctor:

Consult a gastroenterologist or geneticist if you or a family member experience symptoms suggestive of visceral myopathy, such as chronic constipation, dysphagia, or unexplained abdominal pain.

Limitations

  • This test does not detect large deletions/duplications or deep intronic variants
  • Variants of uncertain significance may require further family studies
  • Not a substitute for clinical evaluation
  • Negative result does not exclude all genetic causes of visceral myopathy

Risks & Considerations

  • Minimal risk of bruising at puncture site
  • Rare risk of infection
  • Psychological impact of genetic results

Interfering Factors

  • Contaminated or degraded DNA sample
  • Recent blood transfusion (within 2 weeks)
  • Bone marrow transplantation
  • Incorrect sample labeling

Compare With Similar Tests

TestACTG2 Gene Visceral myopathy NGS Genetic TestACTG2 Single Gene SequencingWhole Exome Sequencing
ComparisonACTG2 Gene Visceral myopathy NGS Genetic Test

Frequently Asked Questions

What is visceral myopathy?
Visceral myopathy is a rare genetic disorder affecting smooth muscles of the gastrointestinal tract, leading to impaired motility and symptoms like constipation, dysphagia, and abdominal pain.
How is the ACTG2 gene related to visceral myopathy?
Mutations in the ACTG2 gene disrupt smooth muscle function, causing visceral myopathy. This gene provides instructions for making gamma-2 actin, a protein essential for muscle contraction.
What is the cost of the ACTG2 gene NGS test?
The test costs Rs 20,000 at DNA Labs India, which includes genetic counseling and interpretation by a board-certified geneticist.
What sample is required for this test?
A blood sample (2-3 ml) is required. No special preparation or fasting is needed.
How long does it take to get results?
Results are typically available within 3 to 4 weeks after the sample reaches the laboratory.
Is home sample collection available?
Yes, DNA Labs India offers free home sample collection for online bookings across major cities in India.
Who should consider this test?
Individuals with symptoms suggestive of visceral myopathy, a family history of the condition, or those with chronic intestinal pseudo-obstruction of unknown cause.
What does a positive result mean?
A positive result confirms the presence of a pathogenic variant in the ACTG2 gene, confirming the diagnosis of visceral myopathy.
What does a negative result mean?
A negative result indicates no pathogenic variants were found in the ACTG2 gene, reducing the likelihood of ACTG2-related visceral myopathy.
Are there any risks associated with the test?
The test is safe with minimal risks such as slight bruising or infection at the blood draw site.
Will insurance cover this test?
Insurance coverage varies. It is advisable to check with your insurance provider. DNA Labs India does not directly bill insurance.
Can this test be done for children?
Yes, the test is suitable for all age groups, including children. A pediatric blood sample can be collected.
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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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.

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