ERCC1 Gene Cerebrooculofacioskeletal Syndrome Type 4 NGS Genetic DNA Test
Comprehensive Genetic Analysis for COFS4 Diagnosis
The ERCC1 Gene Cerebrooculofacioskeletal Syndrome Type 4 NGS Genetic DNA Test represents a cutting-edge diagnostic approach for identifying mutations associated with Cerebrooculofacioskeletal Syndrome Type 4 (COFS4). This rare autosomal recessive disorder affects multiple organ systems and requires precise genetic confirmation for accurate diagnosis and management. Our advanced next-generation sequencing technology provides comprehensive analysis of the ERCC1 gene, delivering reliable results that empower healthcare providers and families with critical genetic information.
What Does This Test Measure?
This specialized genetic test utilizes next-generation sequencing (NGS) technology to thoroughly examine the ERCC1 gene for pathogenic variants responsible for COFS4. The test specifically detects:
- Point mutations, insertions, and deletions in the ERCC1 gene
- Autosomal recessive inheritance patterns
- Pathogenic variants affecting DNA repair mechanisms
- Genetic markers associated with neurological and developmental abnormalities
- Mutations impacting nucleotide excision repair pathways
Who Should Consider This Test?
This genetic test is recommended for individuals presenting with clinical features suggestive of Cerebrooculofacioskeletal Syndrome Type 4, including:
- Infants and children with progressive microcephaly
- Individuals exhibiting facial dysmorphism including prominent forehead and narrow face
- Patients with congenital cataracts or other ocular abnormalities
- Children showing severe developmental delays and intellectual disability
- Individuals with joint contractures and skeletal malformations
- Patients with growth retardation and failure to thrive
- Families with history of similar symptoms in siblings
Key Benefits of ERCC1 Genetic Testing
Undergoing this comprehensive genetic analysis provides numerous advantages for patients and families:
- Accurate Diagnosis: Confirms COFS4 with 99.9% accuracy, eliminating diagnostic uncertainty
- Early Intervention: Enables timely medical management and supportive care strategies
- Family Planning: Provides crucial information for genetic counseling and reproductive decisions
- Personalized Care: Guides development of targeted treatment approaches
- Prognostic Insights: Helps predict disease progression and potential complications
- Research Contribution: Advances understanding of rare genetic disorders
Understanding Your Test Results
Our comprehensive genetic report provides detailed interpretation of your ERCC1 gene analysis:
- Positive Result: Identifies pathogenic variants confirming COFS4 diagnosis, requiring specialized medical follow-up
- Negative Result: No disease-causing mutations detected, though clinical correlation remains essential
- Variant of Uncertain Significance: Identifies genetic changes requiring additional family studies for interpretation
- Carrier Status: Determines if individuals carry one copy of mutated ERCC1 gene
All results include detailed explanations and recommendations for next steps, with genetic counseling available to help understand implications.
Test Pricing Information
| Price Type | Amount (USD) |
|---|---|
| Discount Price | $500 |
| Regular Price | $700 |
Nationwide Testing Availability
We provide comprehensive genetic testing services across the United States with convenient locations in all major cities including New York, Los Angeles, Chicago, Houston, Phoenix, Philadelphia, San Antonio, San Diego, Dallas, San Jose, and many more. Our state-of-the-art laboratories ensure consistent, high-quality results regardless of your location.
Take the Next Step Toward Genetic Clarity
Don’t let diagnostic uncertainty delay proper care. Our ERCC1 Gene Cerebrooculofacioskeletal Syndrome Type 4 NGS Genetic DNA Test provides the definitive answers you need for informed medical decisions. With a turnaround time of 3-4 weeks and multiple sample collection options including blood, extracted DNA, or blood spots on FTA cards, getting tested has never been more convenient.
Book your genetic test today by calling +1(267) 388-9828 or schedule your appointment online. Our genetic counselors are available to discuss pre-test requirements including clinical history documentation and pedigree analysis.
