EVC Gene Ellis-van Creveld syndrome NGS Genetic Test
Short Name: EVC Gene NGS Test
Also known as: Chondroectodermal dysplasia, EVC syndrome
EVC Gene Ellis-van Creveld syndrome 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 from sample receipt. 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 the EVC Gene NGS Genetic Test is to identify pathogenic mutations in the EVC gene to confirm a diagnosis of Ellis-van Creveld syndrome, enabling appropriate medical management, genetic counseling, and family planning.
- Test Code
- 2726
- Price
- ₹20,000
- Sample Type
- Blood or Extracted DNA or One drop Blood on FTA Card
- Result Time
- 3 to 4 weeks from sample receipt
- Fasting Required
- No
- Method
- Next-Generation Sequencing (NGS)
Sample Collection
No specific preparation required. Provide clinical history and family pedigree during genetic counseling.
Method: Venipuncture or finger-prick
Laboratory Analysis
A small blood sample will be collected via venipuncture or finger-prick. For FTA card, a drop of blood is applied.
Report Delivery
Apply pressure to the puncture site to prevent bruising. Store sample as instructed for stability.
Timeline: 3 to 4 weeks from sample receipt
Patient Instructions
About This Test
Who Should Get This Test
The purpose of the EVC Gene NGS Genetic Test is to identify pathogenic mutations in the EVC gene to confirm a diagnosis of Ellis-van Creveld syndrome, enabling appropriate medical management, genetic counseling, and family planning.
How to Prepare
- Ensure proper identification of patient
- Use sterile collection equipment
- Label samples correctly with patient details
- Transport samples at ambient temperature unless specified
Doctor's Notes
Reviewed by Dr SULOCHANA HEMCHANDRA HOLLA — MBBS, MD (Medical Genetics) · Reg. No. 8532
"Genetic testing is essential for confirming Ellis-van Creveld syndrome, enabling early intervention and family planning counseling."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Hemolyzed or clotted blood sample
- Insufficient sample volume
- Improperly labeled or contaminated samples
Understanding Your Results
Positive for pathogenic variant
Confirms diagnosis of Ellis-van Creveld syndrome. Genetic counseling and management of associated symptoms recommended.
Negative for pathogenic variant
No mutations detected in the EVC gene. Clinical correlation and additional testing may be needed if symptoms persist.
Variant of uncertain significance
Genetic variant identified but not conclusively linked to disease. Further family studies and clinical follow-up advised.
Consult a geneticist or healthcare provider if symptoms suggestive of Ellis-van Creveld syndrome are present, such as short stature, polydactyly, or heart defects, or if there is a family history of the condition.
Limitations
- ⚠May not detect all types of genetic variants (e.g., large deletions)
- ⚠Requires clinical correlation for diagnosis
- ⚠Genetic counseling is recommended for result interpretation
Risks & Considerations
- ●Minimal risks from blood draw, such as slight pain or bruising
- ●No significant health risks associated with the test itself
Interfering Factors
- ●Contaminated or degraded DNA sample
- ●Insufficient sample volume
- ●Recent blood transfusion may affect results
Compare With Similar Tests
| Test | EVC Gene Ellis-van Creveld syndrome NGS Genetic Test | FGFR3 Gene Test for Achondroplasia | COL2A1 Gene Test for Stickler Syndrome | IFT80 Gene Test for Short-Rib Thoracic Dysplasia |
|---|---|---|---|---|
| Comparison | EVC Gene Ellis-van Creveld syndrome NGS Genetic Test |
Frequently Asked Questions
What is Ellis-van Creveld syndrome?
How is the EVC Gene NGS Genetic Test performed?
What is the cost of the test?
Who should consider this test?
What sample is required for the test?
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Is the test painful?
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What if the test result is negative?
Is genetic counseling required before the test?
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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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