ERCC6 Gene Cerebrooculofacioskeletal Syndrome Type 1 NGS Genetic DNA Test
Understanding Cerebrooculofacioskeletal Syndrome Type 1
Cerebrooculofacioskeletal Syndrome Type 1 (COFS1) is a rare autosomal recessive genetic disorder characterized by severe neurological impairment, congenital cataracts, microcephaly, and distinctive facial features. This progressive condition affects multiple body systems and typically presents in infancy with significant developmental delays. The ERCC6 gene plays a critical role in DNA repair mechanisms, and mutations in this gene disrupt normal cellular function, leading to the characteristic symptoms of COFS1 syndrome.
What This Test Measures
The ERCC6 Gene Cerebrooculofacioskeletal Syndrome Type 1 NGS Genetic DNA Test utilizes advanced Next-Generation Sequencing (NGS) technology to comprehensively analyze the ERCC6 gene for pathogenic variants. This sophisticated testing approach detects:
- Point mutations and single nucleotide variants
- Small insertions and deletions
- Copy number variations affecting the ERCC6 gene
- Compound heterozygous mutations
- Novel variants with potential clinical significance
Who Should Consider This Test
This genetic test is recommended for individuals presenting with symptoms suggestive of COFS1 syndrome, including:
- Infants with congenital cataracts and microcephaly
- Children exhibiting severe developmental delays
- Patients with characteristic facial features including prominent nose, micrognathia, and large ears
- Individuals with arthrogryposis or joint contractures
- Patients showing signs of progressive neurological deterioration
- Families with a history of COFS1 syndrome or consanguineous marriages
Clinical Benefits of Early Diagnosis
Early genetic diagnosis through the ERCC6 Gene Test provides numerous clinical advantages:
- Accurate Diagnosis: Confirms COFS1 syndrome and differentiates from similar neurological disorders
- Family Planning: Enables informed reproductive decisions for carrier parents
- Prognostic Information: Helps anticipate disease progression and potential complications
- Targeted Management: Guides appropriate medical interventions and supportive care
- Genetic Counseling: Provides families with comprehensive understanding of inheritance patterns
- Research Contribution: Advances scientific knowledge about rare genetic disorders
Test Specifications and Requirements
Turnaround Time: 3 to 4 Weeks
Sample Type: Blood, Extracted DNA, or One Drop Blood on FTA Card
Specialty: Pediatrics
Department: Genetics
Method: NGS Technology
Disease Type: Dysmorphology
Pre-Test Preparation
Before undergoing the ERCC6 Gene Test, patients should provide:
- Complete clinical history of the patient
- Genetic counseling session to discuss testing implications
- Detailed pedigree chart documenting family members affected by similar symptoms
- Informed consent for genetic testing
Understanding Your Test Results
Your ERCC6 Gene Test results will be carefully interpreted by our team of genetic specialists:
- Positive Result: Indicates the presence of pathogenic mutations in the ERCC6 gene, confirming COFS1 syndrome diagnosis
- Negative Result: Suggests no detectable mutations in the ERCC6 gene, though other genetic causes should be considered
- Variant of Uncertain Significance: Identifies genetic changes with unknown clinical impact requiring further evaluation
- Carrier Status: Determines if individuals carry one copy of a mutated ERCC6 gene without showing symptoms
All results include comprehensive genetic counseling to ensure proper understanding and appropriate next steps.
Test Pricing Information
| Test Name | Discount Price | Regular Price |
|---|---|---|
| ERCC6 Gene Cerebrooculofacioskeletal Syndrome Type 1 NGS Genetic DNA Test | 500 USD | 700 USD |
Nationwide Testing Availability
GGC DNA provides 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
If you or your family members are experiencing symptoms suggestive of Cerebrooculofacioskeletal Syndrome Type 1, don’t wait to get answers. Early genetic diagnosis can provide crucial information for managing this complex condition and making informed family planning decisions.
Call us today at +1(267) 388-9828 to schedule your genetic counseling session and book the ERCC6 Gene Test. Our compassionate team is ready to guide you through every step of the testing process and help you understand your genetic health.
With advanced NGS technology, comprehensive genetic counseling, and nationwide accessibility, GGC DNA is your trusted partner in genetic diagnostics. Take control of your genetic health journey today.
