CITED2 Gene Atrial septal defect type 8 NGS Genetic Test
Short Name: CITED2 Gene ASD Type 8 Test
Also known as: CITED2 Gene Mutation Test, ASD Type 8 Genetic Test, Congenital Heart Defect Genetic Test
CITED2 Gene Atrial septal defect type 8 NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses NGS (Next-Generation Sequencing) 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.
🩺 Medically Reviewed By
Dr SULOCHANA HEMCHANDRA HOLLA
Consultant Medical Geneticist · Reg: 8532
Last reviewed: September 7, 2026
Overview
The purpose of this test is to detect mutations in the CITED2 gene to confirm a diagnosis of atrial septal defect type 8, guide clinical management, facilitate genetic counseling, and assess familial risk for congenital heart defects.
- Test Code
- 5182
- 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 (Next-Generation Sequencing)
Sample Collection
Provide clinical history of the patient and undergo a genetic counseling session to draw a pedigree chart of family members affected with atrial septal defect or related conditions.
Method: Venipuncture or blood drop
Laboratory Analysis
A small blood sample is collected via venipuncture or a blood drop on an FTA card by a trained phlebotomist.
Report Delivery
The sample is labeled, stored appropriately, and sent to the laboratory for NGS analysis. Results are typically available in 3 to 4 weeks.
Timeline: 3 to 4 Weeks
Patient Instructions
About This Test
Who Should Get This Test
The purpose of this test is to detect mutations in the CITED2 gene to confirm a diagnosis of atrial septal defect type 8, guide clinical management, facilitate genetic counseling, and assess familial risk for congenital heart defects.
How to Prepare
- Use sterile equipment
- Label samples correctly
- Avoid hemolysis
- Store at recommended temperature
Doctor's Notes
Reviewed by Dr SULOCHANA HEMCHANDRA HOLLA — MBBS, MD (Medical Genetics) · Reg. No. 8532
"Early genetic testing for CITED2 mutations can guide management of atrial septal defects, inform family planning, and enable personalized care for congenital heart conditions."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Hemolyzed sample
- Insufficient volume
- Improper labeling
- Contaminated sample
Understanding Your Results
Positive
Pathogenic variant detected in CITED2 gene, confirming genetic etiology for atrial septal defect type 8. Recommend clinical management and genetic counseling.
Negative
No pathogenic variant detected. Clinical correlation and further testing may be needed if symptoms persist.
Consult a doctor if you experience symptoms like shortness of breath, fatigue, or irregular heartbeat, or if there is a family history of congenital heart defects. Genetic counseling is advised post-test for result interpretation and family planning.
Limitations
- ⚠May not detect all genetic variants or mutations in non-coding regions
- ⚠Results require clinical correlation and genetic counseling
- ⚠False negatives possible due to technical limitations
Risks & Considerations
- ●Minor bruising at the blood draw site
- ●Rare risk of infection
- ●Emotional impact of genetic results
Interfering Factors
- ●Sample contamination
- ●Degraded DNA
- ●Hemolyzed blood sample
Frequently Asked Questions
What is the CITED2 gene?
What is atrial septal defect type 8?
Who should consider this genetic test?
How is the test performed?
What is the cost of the test?
Is home sample collection available?
How long does it take to get results?
What does a positive result mean?
What if the test is negative?
Are there any risks associated with the test?
Is the test covered by insurance?
How can I book the 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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