NOTCH1 Gene Aortic valve disease type 1 NGS Genetic Test
Short Name: NOTCH1 Aortic Valve Disease NGS Test
Also known as: NOTCH1 Mutation Analysis, Hereditary Aortic Valve Disease Genetic Test
NOTCH1 Gene Aortic valve disease type 1 NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses Next-Generation Sequencing (NGS) 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 Pasupathy Arumugam
Consultant Pathologist · Reg: 21521
Last reviewed: September 7, 2026
Overview
To identify pathogenic mutations in the NOTCH1 gene for the diagnosis and management of aortic valve disease type 1.
- Test Code
- 2556
- 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
- Next-Generation Sequencing (NGS)
Sample Collection
Provide clinical history and undergo genetic counseling session.
Method: Venipuncture
Laboratory Analysis
Blood sample will be collected via venipuncture or FTA card.
Report Delivery
Apply pressure to the puncture site to prevent bruising.
Timeline: 3 to 4 weeks
Patient Instructions
About This Test
Who Should Get This Test
To identify pathogenic mutations in the NOTCH1 gene for the diagnosis and management of aortic valve disease type 1.
How to Prepare
- Follow any specific instructions from the lab
- Bring identification and prescription
- Inform about any medications or health conditions
Doctor's Notes
Reviewed by Dr Pasupathy Arumugam — MBBS, MD (Pathology) · Reg. No. 21521
"This genetic test is crucial for identifying hereditary risks of aortic valve disease, enabling early intervention and family screening."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Hemolyzed sample
- Insufficient volume
- Incorrect container
Understanding Your Results
Positive for pathogenic variant
Indicates genetic predisposition to aortic valve disease type 1. Consult a geneticist for management and family screening.
Negative
No pathogenic variants detected. Clinical correlation recommended if symptoms persist.
Variant of uncertain significance
Further testing and family studies may be needed for clarification.
If you have a family history of aortic valve disease or experience symptoms like chest pain or shortness of breath, consult a cardiologist or geneticist promptly.
Limitations
- ⚠May not detect all types of mutations
- ⚠Requires genetic counseling for interpretation
- ⚠Results should be correlated with clinical findings
Risks & Considerations
- ●Minimal physical risk from blood draw
- ●Psychological impact of genetic results
- ●Potential for anxiety or stress
Interfering Factors
- ●Poor sample quality
- ●Contamination during collection
- ●Technical errors in sequencing
Frequently Asked Questions
What is the NOTCH1 Gene Aortic Valve Disease Type 1 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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