ACTN2 Gene Cardiomyopathy, dilated type 1AA NGS Genetic Test
Short Name: ACTN2 Gene Test
Also known as: ACTN2 Gene Mutation Analysis, Dilated Cardiomyopathy Genetic Screening
ACTN2 Gene Cardiomyopathy, dilated type 1AA NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses Next-Generation Sequencing (NGS), Sanger Sequencing Confirmation on Blood samples. Results in 3 to 4 weeks from sample receipt. Free home collection in 300+ cities across India.
🩺 Medically Reviewed By
Dr Pasupathy Arumugam
Consultant Pathologist · Reg: 21521
Last reviewed: September 7, 2026
Overview
To identify pathogenic mutations in the ACTN2 gene associated with dilated cardiomyopathy type 1AA, enabling early diagnosis, family screening, and tailored management strategies.
- Test Code
- 5202
- Price
- ₹20,000
- Sample Type
- Blood
- Result Time
- 3 to 4 weeks from sample receipt
- Fasting Required
- No
- Method
- Next-Generation Sequencing (NGS), Sanger Sequencing Confirmation
Sample Collection
Obtain informed consent and conduct genetic counseling. Review patient's clinical and family history.
Method: Venipuncture
Laboratory Analysis
Collect blood sample via standard venipuncture procedure using an EDTA tube.
Report Delivery
Label sample correctly and transport to laboratory under stable conditions for DNA extraction and analysis.
Timeline: 3 to 4 weeks from sample receipt
Patient Instructions
About This Test
Who Should Get This Test
To identify pathogenic mutations in the ACTN2 gene associated with dilated cardiomyopathy type 1AA, enabling early diagnosis, family screening, and tailored management strategies.
How to Prepare
- Use a sterile EDTA tube for blood collection
- Ensure proper patient identification and labeling
- Avoid hemolysis by gentle mixing and timely processing
- Store sample at room temperature and ship within 48 hours
Doctor's Notes
Reviewed by Dr Pasupathy Arumugam — MBBS, MD (Pathology) · Reg. No. 21521
"Early genetic testing for ACTN2 mutations is vital for managing dilated cardiomyopathy and enabling family screening to prevent complications."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Hemolyzed or clotted blood sample
- Insufficient sample volume
- Improper labeling or missing consent
- Sample older than 72 hours without stabilization
Understanding Your Results
Positive for pathogenic variant
Confirms genetic risk for dilated cardiomyopathy type 1AA. Recommend clinical evaluation, family screening, and genetic counseling.
Negative for pathogenic variant
No mutations detected in the ACTN2 gene. Clinical correlation with other tests is advised if symptoms persist.
Variant of uncertain significance (VUS)
Genetic variant identified but clinical significance unknown. Further testing, family studies, and follow-up recommended.
Consult a cardiologist or geneticist if you experience symptoms like shortness of breath, fatigue, or have a family history of cardiomyopathy. Also, seek advice after receiving test results for appropriate management.
Limitations
- ⚠May not detect all genetic variants or deep intronic mutations
- ⚠Results require interpretation by a genetic specialist
- ⚠Psychological impact on patients and families
- ⚠Does not replace clinical diagnosis or other cardiac tests
Risks & Considerations
- ●Minimal risk from blood draw, such as bruising or infection
- ●Potential psychological distress from genetic results
- ●Implications for insurance or employment in some cases
Interfering Factors
- ●Sample contamination during collection or transport
- ●Degraded DNA due to improper storage
- ●Presence of hemolysis in blood sample
Frequently Asked Questions
What is ACTN2 gene cardiomyopathy?
What are the common symptoms of dilated cardiomyopathy?
How is ACTN2 gene cardiomyopathy diagnosed?
What is the cost of the NGS genetic test in India?
How long does it take to get the test results?
Is home sample collection available for this test?
What sample is required for the test?
Is fasting required before the test?
Who should consider getting this test?
What does a positive test result mean?
Is genetic counseling necessary before and after the test?
How accurate is the NGS genetic test?
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₹20,000Reference 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.
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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