CC2D2A Gene COACH Syndrome NGS Genetic DNA Test
Comprehensive Genetic Testing for Neurological Disorders
The CC2D2A Gene COACH Syndrome NGS Genetic DNA Test represents a cutting-edge diagnostic approach for identifying genetic mutations responsible for COACH syndrome, a rare autosomal recessive disorder characterized by cerebellar vermis hypoplasia, oligophrenia, congenital ataxia, ocular coloboma, and hepatic fibrosis. This sophisticated genetic analysis utilizes next-generation sequencing technology to provide comprehensive insights into neurological conditions affecting both children and adults.
What Does This Test Measure and Detect?
This advanced genetic test specifically targets the CC2D2A gene, which plays a critical role in ciliary function and brain development. The test detects:
- Pathogenic variants in the CC2D2A gene associated with COACH syndrome
- Single nucleotide polymorphisms (SNPs) affecting neurological development
- Deletion and duplication mutations impacting cerebellar function
- Genetic markers for Joubert syndrome and related ciliopathies
- Inheritance patterns for family planning and genetic counseling
Who Should Consider This Genetic Test?
This test is recommended for individuals presenting with the following symptoms or clinical indications:
- Infants and children with developmental delays and neurological abnormalities
- Patients exhibiting cerebellar ataxia and coordination difficulties
- Individuals with ocular motor apraxia or abnormal eye movements
- Patients diagnosed with congenital hepatic fibrosis or liver abnormalities
- Family members of individuals with confirmed COACH syndrome diagnosis
- Couples with family history of neurological disorders planning pregnancy
- Individuals with unexplained intellectual disability or cognitive impairment
Key Benefits of CC2D2A Genetic Testing
Undergoing this comprehensive genetic analysis provides numerous advantages for patients and healthcare providers:
- Early Diagnosis: Enables prompt identification of COACH syndrome before severe complications develop
- Personalized Treatment: Guides targeted therapeutic interventions based on specific genetic findings
- Family Planning: Provides crucial information for genetic counseling and reproductive decision-making
- Prognostic Insights: Helps predict disease progression and potential complications
- Differential Diagnosis: Distinguishes COACH syndrome from other similar neurological conditions
- Research Contribution: Advances scientific understanding of ciliopathies and neurological disorders
Understanding Your Test Results
Our comprehensive genetic counseling services help you interpret your CC2D2A gene test results:
- Positive Result: Indicates the presence of pathogenic variants associated with COACH syndrome, requiring specialized neurological care and management
- Negative Result: Suggests absence of known CC2D2A mutations, though other genetic causes may need investigation
- Variant of Uncertain Significance: Identifies genetic changes with unknown clinical impact, requiring ongoing monitoring and research
- Carrier Status: Determines if you carry one copy of a mutated gene, important for family planning decisions
Test Pricing and Availability
| Test Component | Price (USD) |
|---|---|
| Discount Price | $500 |
| Regular Price | $700 |
Turnaround Time: 3 to 4 Weeks
Sample Type: Blood, Extracted DNA, or One Drop Blood on FTA Card
Nationwide Testing Availability
We have conveniently located branches across the United States, including major metropolitan areas such as New York, Los Angeles, Chicago, Houston, Phoenix, Philadelphia, San Antonio, San Diego, Dallas, and San Jose. Our state-of-the-art genetic testing facilities ensure consistent, high-quality results regardless of your location.
Pre-Test Requirements
Before undergoing the CC2D2A Gene COACH Syndrome NGS Genetic DNA Test, patients should:
- Provide complete clinical history and symptom documentation
- Participate in genetic counseling sessions to understand test implications
- Complete family pedigree analysis to identify hereditary patterns
- Discuss testing objectives and potential outcomes with healthcare providers
Take Control of Your Neurological Health Today
Don’t let uncertainty about neurological symptoms affect your quality of life. Our CC2D2A Gene COACH Syndrome NGS Genetic DNA Test provides the clarity you need for informed healthcare decisions. With our discounted price of $500 and comprehensive genetic analysis, you can access advanced diagnostic capabilities previously unavailable to many patients.
Book your genetic test appointment now by calling +1(267) 388-9828 or visiting our nearest testing center. Our genetic specialists are ready to guide you through the testing process and help you understand your results for better neurological health management.
