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ACTC1 Gene Atrial septal defect type 5 NGS Genetic Test

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ACTC1 Gene Atrial septal defect type 5 NGS Genetic Test

Short Name: ACTC1 Gene ASD5 NGS Genetic Test

Also known as: ACTC1 Mutation Test, ASD5 Genetic Test, Atrial Septal Defect Type 5 Genetic Test

ACTC1 Gene Atrial septal defect type 5 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

✍️ Written By

🩺 Medically Reviewed By

Dr SULOCHANA HEMCHANDRA HOLLA

Dr SULOCHANA HEMCHANDRA HOLLA

Consultant Medical Geneticist · Reg: 8532

Last reviewed: September 7, 2026

Overview

To detect mutations in the ACTC1 gene for accurate diagnosis, management, and genetic counseling of Atrial Septal Defect Type 5 (ASD5), a congenital heart defect.

Test Code
5183
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 specific preparation required, but provide clinical history and genetic counseling information.

Method: Venipuncture

Step 2

Laboratory Analysis

A small blood sample will be drawn from a vein in the arm using standard venipuncture techniques.

Step 3

Report Delivery

Apply pressure to the puncture site to prevent bleeding. Resume normal activities unless advised otherwise.

Timeline: 3 to 4 Weeks

Patient Instructions

1
Before the Test:Provide complete clinical history and undergo genetic counseling to understand test implications.
2
During the Test:Blood sample collection via venipuncture; the procedure is quick and minimally invasive.
3
After the Test:Wait for results (3-4 weeks); discuss findings with a healthcare professional for appropriate management.

About This Test

Who Should Get This Test

To detect mutations in the ACTC1 gene for accurate diagnosis, management, and genetic counseling of Atrial Septal Defect Type 5 (ASD5), a congenital heart defect.

How to Prepare

  • Ensure the patient is relaxed and hydrated
  • Use sterile equipment for blood collection
  • Label the sample correctly with patient details

Doctor's Notes

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

"Early genetic testing for ACTC1 mutations can guide management of atrial septal defects and inform family planning, especially in cases with a family history of congenital heart disease."

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
For longer storage, refrigerate at 2-8°C for up to 7 days
Sample Rejection Criteria:
  • Hemolyzed or clotted samples
  • Incorrectly labeled or insufficient sample volume
  • Samples not stored under recommended conditions

Understanding Your Results

Results from the ACTC1 Gene NGS Genetic Test indicate the presence or absence of mutations in the ACTC1 gene associated with Atrial Septal Defect Type 5.
📊

No pathogenic variants detected

Normal result; no mutations in the ACTC1 gene identified. Clinical correlation is recommended.

📊

Pathogenic variant detected

Mutation found; confirms genetic basis for ASD5. Genetic counseling and further management advised.

📊

Variant of uncertain significance (VUS)

Genetic change identified but clinical significance unknown. Repeat testing or family studies may be needed.

⚠️ When to Consult a Doctor:

Consult a doctor or genetic counselor if results show pathogenic variants, if there is a family history of ASD5, or if symptoms persist despite normal results.

Limitations

  • ⚠May not detect all genetic variants or mutations in non-coding regions
  • ⚠Results require interpretation by a qualified geneticist
  • ⚠Does not replace clinical diagnosis methods like echocardiogram

Risks & Considerations

  • ●Minimal risk from blood draw, such as slight pain or bruising
  • ●Psychological impact of genetic results; counseling recommended

Interfering Factors

  • ●Poor sample quality or contamination
  • ●Insufficient DNA quantity
  • ●Recent blood transfusions may affect results

Compare With Similar Tests

TestACTC1 Gene Atrial septal defect type 5 NGS Genetic TestEchocardiogramCardiac MRIOther Genetic Panels
ComparisonACTC1 Gene Atrial septal defect type 5 NGS Genetic TestImaging test for structural heart defects; NGS test provides genetic confirmation.Detailed imaging for heart anatomy; NGS test identifies underlying genetic causes.Broader genetic tests may include multiple genes; this test focuses specifically on ACTC1.

Frequently Asked Questions

What is the ACTC1 Gene Atrial Septal Defect Type 5 NGS Genetic Test?
It is a genetic test that uses Next Generation Sequencing to detect mutations in the ACTC1 gene, which causes Atrial Septal Defect Type 5, a congenital heart defect.
Why is this test recommended?
It is recommended for individuals with a family history of ASD5, symptoms of congenital heart defects, or for genetic confirmation after clinical diagnosis.
How is the test performed?
The test involves analyzing a blood or saliva sample using NGS technology to identify genetic variations in the ACTC1 gene.
What sample is required for the test?
A small blood sample (approximately 5 mL) is typically required, collected via venipuncture.
Is fasting required before the test?
No, fasting is not required for this genetic test.
How long does it take to get the results?
Results are typically available within 3 to 4 weeks after sample collection.
What is the cost of the test?
The cost is INR 20,000, which includes sample collection and analysis.
Is home sample collection available?
Yes, free home sample collection is available for online bookings across many cities in India.
What do the results indicate?
Results can show no pathogenic variants, pathogenic variants confirming ASD5, or variants of uncertain significance requiring further evaluation.
Are there any risks associated with the test?
The test itself has minimal risks, such as slight discomfort from blood draw. Genetic results may have psychological impacts, so counseling is advised.
How accurate is the NGS Genetic Test?
NGS is highly accurate for detecting genetic mutations, but accuracy depends on sample quality and interpretation by experts.
What should I do after receiving the results?
Consult a genetic counselor or healthcare professional to understand the results, discuss management options, and consider family 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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