ELN Gene Supravalvar aortic stenosis NGS Genetic Test
Short Name: ELN SVAS NGS Test
Also known as: ELN Gene Mutation Test, Supravalvar Aortic Stenosis Genetic Test, SVAS Genetic Screening
ELN Gene Supravalvar aortic stenosis 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
The purpose of this test is to identify mutations in the ELN gene that cause Supravalvar Aortic Stenosis (SVAS), enabling early diagnosis, informed treatment decisions, and genetic counseling for patients and their families.
- Test Code
- 5352
- 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
No specific preparation is required. Provide clinical history and undergo genetic counseling as recommended.
Method: Venipuncture
Laboratory Analysis
A blood sample will be drawn from a vein in the arm using standard venipuncture techniques.
Report Delivery
Apply pressure to the puncture site to prevent bleeding. Resume normal activities unless otherwise advised.
Timeline: 3 to 4 Weeks
Patient Instructions
About This Test
Who Should Get This Test
The purpose of this test is to identify mutations in the ELN gene that cause Supravalvar Aortic Stenosis (SVAS), enabling early diagnosis, informed treatment decisions, and genetic counseling for patients and their families.
How to Prepare
- Ensure the patient is relaxed and hydrated
- Use sterile equipment for blood collection
- Label the sample correctly with patient details
- Transport the sample to the lab at ambient temperature
Doctor's Notes
Reviewed by Dr Pasupathy Arumugam — MBBS, MD (Pathology) · Reg. No. 21521
"Early genetic testing for SVAS can guide treatment decisions and inform family planning, especially in cases with a suspected genetic etiology."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Hemolyzed or clotted blood samples
- Insufficient sample volume
- Improperly labeled or contaminated samples
Understanding Your Results
Positive for pathogenic ELN mutation
Confirms genetic diagnosis of SVAS; recommend cardiac evaluation and genetic counseling.
Negative for ELN mutation
ELN gene mutation not detected; consider other genetic or clinical causes for symptoms.
Variant of Uncertain Significance (VUS)
Further testing and family studies may be needed for clarification.
Consult a doctor if you experience symptoms like chest pain, shortness of breath, or fainting, or if you have a family history of SVAS. After receiving test results, seek genetic counseling for personalized management.
Limitations
- ⚠May not detect all possible ELN gene mutations or variants
- ⚠Results require interpretation by a genetic specialist
- ⚠Does not replace clinical diagnosis or other cardiac evaluations
Risks & Considerations
- ●Minimal risk from blood draw, such as bruising or infection
- ●Psychological impact of genetic results; counseling recommended
Interfering Factors
- ●Poor sample quality or insufficient DNA quantity
- ●Contamination during sample collection or processing
- ●Recent blood transfusions may affect DNA analysis
Compare With Similar Tests
| Test | ELN Gene Supravalvar aortic stenosis NGS Genetic Test | Echocardiogram | Cardiac MRI | Other Genetic Panels |
|---|---|---|---|---|
| Comparison | ELN Gene Supravalvar aortic stenosis NGS Genetic Test | Imaging test for structural heart defects; genetic test identifies underlying cause. | Detailed heart imaging; genetic test provides molecular diagnosis. | May include multiple genes; this test focuses specifically on ELN gene for SVAS. |
Frequently Asked Questions
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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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