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EVC2 Gene Ellis-van Creveld syndrome NGS Genetic Test

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EVC2 Gene Ellis-van Creveld syndrome NGS Genetic Test

Short Name: EVC2 Gene NGS Test

Also known as: EVC Syndrome, Ellis-van Creveld Syndrome, EVC2-related syndrome

EVC2 Gene Ellis-van Creveld syndrome 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.

PediatricsPediatric🏠 Home Collection

✍️ Written By

🩺 Medically Reviewed By

Dr SULOCHANA HEMCHANDRA HOLLA

Dr SULOCHANA HEMCHANDRA HOLLA

Consultant Medical Geneticist · Reg: 8532

Last reviewed: September 7, 2026

Overview

To identify mutations in the EVC2 gene for the diagnosis of Ellis-van Creveld Syndrome, aiding in clinical management, genetic counseling, and family planning.

Test Code
2730
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
Step 1

Sample Collection

No specific preparation required. Provide detailed clinical history and undergo genetic counseling to understand the test implications.

Method: Blood draw or saliva collection

Step 2

Laboratory Analysis

A blood sample will be drawn by a trained phlebotomist using sterile techniques, or a saliva sample may be collected as an alternative.

Step 3

Report Delivery

Apply pressure to the puncture site to prevent bleeding. Keep the area clean and dry.

Timeline: 3 to 4 weeks

Patient Instructions

1
Before the Test:Undergo genetic counseling to discuss the test purpose, implications, and potential outcomes. Provide informed consent.
2
During the Test:Sample collection is quick and minimally invasive, typically taking a few minutes.
3
After the Test:Results will be available in 3 to 4 weeks. Follow up with your healthcare provider to discuss findings.

About This Test

Who Should Get This Test

To identify mutations in the EVC2 gene for the diagnosis of Ellis-van Creveld Syndrome, aiding in clinical management, genetic counseling, and family planning.

How to Prepare

  • Ensure proper patient identification
  • Use sterile collection equipment
  • Label samples accurately with patient details
  • Follow standard phlebotomy procedures

Doctor's Notes

Reviewed by — MBBS, MD (Medical Genetics) · Reg. No. 8532

"Genetic testing for EVC2 gene mutations is essential for accurate diagnosis of Ellis-van Creveld Syndrome, enabling appropriate medical management and genetic counseling for affected families."

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 samples are stable for up to 48 hours at room temperature
Extracted DNA can be stored at appropriate temperatures for longer periods
Sample Rejection Criteria:
  • Hemolyzed or clotted samples
  • Insufficient sample volume
  • Improper labeling or documentation
  • Contaminated samples

Understanding Your Results

Results indicate the presence or absence of pathogenic mutations in the EVC2 gene. A positive result confirms a genetic basis for Ellis-van Creveld Syndrome, while a negative result may require further testing if clinical suspicion remains high.
Pathogenic variant detected: Confirms diagnosis of EVC syndrome due to EVC2 gene mutation
Variant of uncertain significance: Requires further evaluation and genetic counseling
No variant detected: Does not rule out other genetic causes or mutations in the EVC gene
⚠️ When to Consult a Doctor:

If test results are positive, or if clinical symptoms such as skeletal abnormalities or heart defects persist, consult a geneticist or pediatrician for comprehensive management and genetic counseling.

Limitations

  • ⚠May not detect all types of mutations, such as large deletions or duplications
  • ⚠Requires interpretation by a qualified geneticist
  • ⚠Results should be correlated with clinical findings and family history

Risks & Considerations

  • ●Minimal risk associated with blood draw, such as bruising, soreness, or rare infection at the puncture site

Interfering Factors

  • ●Sample contamination
  • ●Degraded DNA
  • ●Improper sample handling

Frequently Asked Questions

What is Ellis-van Creveld Syndrome?
Ellis-van Creveld Syndrome is a rare genetic disorder characterized by skeletal abnormalities, short stature, polydactyly, dental anomalies, and congenital heart defects, often caused by mutations in the EVC or EVC2 genes.
What causes EVC syndrome?
EVC syndrome is primarily caused by mutations in the EVC or EVC2 genes, which are involved in bone and cartilage development. These mutations are inherited in an autosomal recessive pattern.
What are the common symptoms of EVC syndrome?
Common symptoms include short stature, short limbs, extra fingers or toes, abnormal teeth development, heart defects, and respiratory issues. Symptoms can vary in severity.
How is EVC syndrome diagnosed?
Diagnosis is based on clinical features, medical history, and genetic testing. The EVC2 Gene NGS Genetic Test can confirm mutations in the EVC2 gene.
What is the EVC2 Gene NGS Genetic Test?
It is a Next-Generation Sequencing test that detects mutations in the EVC2 gene to diagnose Ellis-van Creveld Syndrome, using advanced technology for high accuracy.
How much does the EVC2 Gene NGS Genetic Test cost?
The test costs INR 20000 at DNA Labs India, with free home sample collection available across India.
What sample is required for the test?
The test requires a blood sample, extracted DNA, or one drop of blood on an FTA card. Saliva samples may also be accepted.
How long does it take to get test results?
Results are typically available within 3 to 4 weeks after sample collection.
Is home sample collection available for this test?
Yes, DNA Labs India offers free home sample collection for online bookings in numerous cities across India.
What do the test results mean?
A positive result indicates a pathogenic mutation in the EVC2 gene, confirming EVC syndrome. A negative result may require further testing if symptoms persist.
Can this test be used for prenatal diagnosis?
While the test is primarily for postnatal diagnosis, genetic counseling can discuss options for prenatal testing in families with known mutations.
What should I do after receiving the test results?
Consult a geneticist or healthcare provider to interpret results, discuss management options, and consider genetic counseling for family planning.
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.

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✓ 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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