EVC2 Gene Ellis-van Creveld Syndrome NGS Genetic DNA Test
Comprehensive Genetic Analysis for Skeletal Dysplasia
The EVC2 Gene Ellis-van Creveld Syndrome NGS Genetic DNA Test represents a cutting-edge diagnostic approach for identifying mutations associated with Ellis-van Creveld syndrome, a rare autosomal recessive genetic disorder affecting skeletal development and multiple organ systems. This sophisticated testing methodology utilizes next-generation sequencing technology to provide comprehensive genetic insights that are crucial for accurate diagnosis, prognosis, and family planning decisions.
What Does This Test Measure and Detect?
This advanced genetic test specifically targets the EVC2 gene located on chromosome 4p16, which plays a critical role in the hedgehog signaling pathway essential for proper embryonic development. The test detects:
- Pathogenic variants and mutations in the EVC2 gene
- Single nucleotide polymorphisms (SNPs) associated with Ellis-van Creveld syndrome
- Insertions, deletions, and copy number variations affecting gene function
- Compound heterozygous mutations that may cause the condition
Who Should Consider This Genetic Test?
This test is particularly recommended for individuals presenting with characteristic symptoms or those with relevant family history:
- Newborns or children exhibiting skeletal abnormalities including short limbs and ribs
- Individuals with polydactyly (extra fingers or toes)
- Patients with congenital heart defects, particularly atrial septal defects
- Those displaying dental anomalies such as natal teeth or enamel hypoplasia
- Individuals with family history of Ellis-van Creveld syndrome
- Couples planning pregnancy with known genetic risks in their family
- Patients with unexplained short stature and skeletal dysplasia
Significant Benefits of EVC2 Genetic Testing
Undergoing this comprehensive genetic analysis provides numerous advantages for patients and healthcare providers:
- Accurate Diagnosis: Confirms or rules out Ellis-van Creveld syndrome with high precision
- Family Planning Guidance: Enables informed reproductive decisions and genetic counseling
- Early Intervention: Facilitates timely medical management and specialized care
- Prognostic Information: Helps predict disease progression and potential complications
- Genetic Counseling: Provides basis for comprehensive family risk assessment
- Research Contribution: Advances understanding of rare genetic disorders
Understanding Your Test Results
Our genetic specialists provide comprehensive interpretation of your results:
- Positive Result: Indicates presence of pathogenic mutations in the EVC2 gene, confirming Ellis-van Creveld syndrome diagnosis
- Negative Result: Suggests absence of known disease-causing mutations in the EVC2 gene
- Variant of Uncertain Significance: Identifies genetic changes with unknown clinical impact requiring further evaluation
- Carrier Status: Determines if an individual carries one copy of a mutated gene without showing symptoms
All results are accompanied by detailed genetic counseling to ensure proper understanding and appropriate next steps.
Test Pricing Information
| Price Type | Amount (USD) |
|---|---|
| Discount Price | $500 |
| Regular Price | $700 |
Nationwide Testing Availability
We proudly serve patients across the United States with convenient testing locations in all major metropolitan areas including New York, Los Angeles, Chicago, Houston, Phoenix, Philadelphia, San Antonio, San Diego, Dallas, San Jose, and many more. Our network of certified genetic testing facilities ensures accessibility and convenience for patients nationwide.
Take the Next Step Toward Genetic Clarity
Don’t let uncertainty about genetic conditions affect your health decisions. Our experienced genetic counselors and medical professionals are ready to guide you through the testing process and provide the answers you need for informed healthcare choices.
Book your EVC2 Gene Ellis-van Creveld Syndrome NGS Genetic DNA Test today by calling our dedicated genetic testing line at +1(267) 388-9828 or schedule your appointment online. Take control of your genetic health with comprehensive, reliable testing from America’s trusted genetics laboratory.
