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NKX2-5 Gene Atrial septal defect with atrioventricular conduction defects NGS Genetic Test

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NKX2-5 Gene Atrial septal defect with atrioventricular conduction defects NGS Genetic Test

Short Name: NKX2-5 ASD with AVCD NGS Test

Also known as: NKX2-5 Gene Test for ASD with AVCD, Congenital Heart Defect Genetic Test, NKX2-5 Mutation Analysis

NKX2-5 Gene Atrial septal defect with atrioventricular conduction defects NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses NGS Technology on Blood or Extracted DNA or One drop Blood on FTA Card samples. Results in 3 to 4 weeks. Free home collection in 300+ cities across India.

PediatricsAll Ages🏠 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 NKX2-5 gene associated with atrial septal defect and atrioventricular conduction defects, aiding in diagnosis, treatment guidance, and genetic counseling.

Test Code
5655
Price
₹20,000
Sample Type
Blood or Extracted DNA or One drop Blood on FTA Card
Result Time
3 to 4 weeks
Fasting Required
No
Method
NGS Technology
Step 1

Sample Collection

Consult with a healthcare provider or genetic counselor to discuss test implications and obtain informed consent.

Method: Blood draw or saliva collection

Step 2

Laboratory Analysis

Sample collection involves a simple blood draw or saliva sample, performed by a trained professional.

Step 3

Report Delivery

Sample is sent to the laboratory for analysis. Follow-up with healthcare provider for results interpretation.

Timeline: 3 to 4 weeks

Patient Instructions

1
Before the Test:Genetic counseling session to discuss test purpose, implications, and obtain consent.
2
During the Test:Sample collection procedure as per instructions.
3
After the Test:Wait for results (3-4 weeks) and schedule follow-up for interpretation.

About This Test

Who Should Get This Test

To detect mutations in the NKX2-5 gene associated with atrial septal defect and atrioventricular conduction defects, aiding in diagnosis, treatment guidance, and genetic counseling.

How to Prepare

  • Ensure proper identification and labeling of the sample
  • Use sterile collection tubes
  • Store sample at appropriate temperature as specified

Doctor's Notes

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

"This test is crucial for diagnosing genetic causes of congenital heart defects and guiding family planning and treatment options."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
Collection MethodBlood draw or saliva collection

Sample Stability

Blood: 2-8°C for up to 72 hours
Saliva: Room temperature for 24 hours
Sample Rejection Criteria:
  • Hemolyzed or contaminated sample
  • Insufficient sample volume
  • Improper labeling or storage

Understanding Your Results

Results indicate the presence or absence of pathogenic variants in the NKX2-5 gene. Genetic counseling is essential for understanding implications.
📊

Normal

No pathogenic variants detected in the NKX2-5 gene. Clinical correlation recommended.

📊

Pathogenic variant detected

Mutation identified, associated with ASD and AVCD. Further clinical evaluation and genetic counseling advised.

⚠️ When to Consult a Doctor:

If symptoms persist, if genetic counseling is needed, or if family planning decisions are required based on test results.

Limitations

  • ⚠May not detect all genetic variants or mutations
  • ⚠Requires genetic counseling for accurate interpretation
  • ⚠Results may not predict disease severity in all cases

Risks & Considerations

  • ●Minor discomfort or bruising from blood draw
  • ●Potential psychological impact of results
  • ●No significant physical risks

Compare With Similar Tests

TestNKX2-5 Gene Atrial septal defect with atrioventricular conduction defects NGS Genetic TestCardiac Gene PanelChromosomal MicroarrayWhole Exome Sequencing
ComparisonNKX2-5 Gene Atrial septal defect with atrioventricular conduction defects NGS Genetic Test

Frequently Asked Questions

What is the NKX2-5 Gene Atrial Septal Defect with AV Conduction Defects NGS Genetic Test?
It is a genetic test that uses NGS technology to detect mutations in the NKX2-5 gene, which can cause atrial septal defect and atrioventricular conduction defects.
Who is this test recommended for?
Individuals with symptoms of ASD or AVCD, those with a family history of congenital heart defects, or for genetic counseling purposes.
What symptoms indicate the need for this test?
Symptoms include shortness of breath, fatigue, irregular heartbeat, swelling in legs or abdomen, and poor appetite in infants.
How is the sample collected for this test?
A blood sample or saliva sample is collected, with home collection available across India.
What is the cost of the NKX2-5 Gene Test?
The test costs INR 20,000, which includes testing, analysis, and a detailed report.
Is home sample collection available for this test?
Yes, free home sample collection is available for online bookings in many cities across India.
How long does it take to receive the test results?
Results are typically available within 3 to 4 weeks after sample collection.
What do the test results indicate?
Results show whether pathogenic variants in the NKX2-5 gene are detected, which can confirm diagnosis and guide treatment.
Is genetic counseling necessary before taking this test?
Yes, genetic counseling is recommended to understand the test implications and interpret results accurately.
Can this test be used for prenatal diagnosis?
It may be used in prenatal settings if there is a known family history, but consultation with a genetic counselor is advised.
What are the risks associated with this genetic test?
Risks are minimal, such as minor discomfort from blood draw, but psychological impacts of results should be considered.
How accurate is the NKX2-5 Gene Test?
The test uses advanced NGS technology for high accuracy, but results should be correlated with clinical findings and genetic counseling.
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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