CC2D2A Gene Joubert Syndrome Type 9 NGS Genetic DNA Test
Comprehensive Genetic Testing for Neurological Disorders
The CC2D2A Gene Joubert Syndrome Type 9 NGS Genetic DNA Test represents a breakthrough in neurological genetic diagnostics, offering precise detection of mutations associated with Joubert Syndrome Type 9. This rare autosomal recessive disorder affects brain development, particularly the cerebellum and brainstem, leading to significant neurological challenges. Our advanced testing methodology provides families and healthcare providers with definitive genetic information crucial for accurate diagnosis and personalized care planning.
What Does This Test Measure?
This specialized genetic test utilizes Next-Generation Sequencing (NGS) technology to analyze the CC2D2A gene for pathogenic variants responsible for Joubert Syndrome Type 9. The test specifically detects:
- Point mutations and small insertions/deletions in the CC2D2A gene
- Copy number variations affecting gene function
- Pathogenic variants disrupting ciliary protein function
- Genetic markers associated with cerebellar vermis hypoplasia
Who Should Consider This Test?
This genetic test is recommended for individuals presenting with symptoms suggestive of Joubert Syndrome or related neurological conditions:
- Infants and children with developmental delays and hypotonia
- Individuals exhibiting abnormal eye movements (nystagmus)
- Patients with breathing irregularities, especially episodic hyperpnea
- Children showing coordination difficulties and ataxia
- Individuals with intellectual disability of unknown cause
- Patients with characteristic “molar tooth sign” on brain MRI
- Family members of individuals diagnosed with Joubert Syndrome
Key Benefits of Genetic Testing
Undergoing the CC2D2A Gene Joubert Syndrome Type 9 test provides numerous advantages for patients and families:
- Accurate Diagnosis: Confirms or rules out Joubert Syndrome Type 9 with high precision
- Family Planning Guidance: Provides recurrence risk information for future pregnancies
- Personalized Treatment: Enables targeted interventions and management strategies
- Early Intervention: Facilitates timely support services and therapies
- Genetic Counseling: Supports informed decision-making for affected families
- Research Contribution: Advances understanding of rare neurological disorders
Understanding Your Test Results
Our comprehensive genetic counseling services help you interpret your test results effectively:
- Positive Result: Indicates presence of pathogenic CC2D2A gene mutations confirming Joubert Syndrome Type 9 diagnosis
- Negative Result: Suggests absence of detectable mutations in the CC2D2A gene
- Variant of Uncertain Significance: Identifies genetic changes with unclear clinical implications requiring further evaluation
- Carrier Status: Determines if individuals carry one copy of a mutated gene without showing symptoms
All results are accompanied by detailed explanations and recommendations from our certified genetic counselors.
Test Details and Pricing
| Test Component | Details |
|---|---|
| Test Name | CC2D2A Gene Joubert Syndrome Type 9 NGS Genetic DNA Test |
| Discount Price | $500 USD |
| Regular Price | $700 USD |
| Turnaround Time | 3 to 4 Weeks |
| Sample Type | Blood, Extracted DNA, or One Drop Blood on FTA Card |
| Testing Method | Next-Generation Sequencing (NGS) Technology |
Pre-Test Requirements
To ensure optimal testing outcomes, we recommend:
- Complete clinical history documentation
- Genetic counseling session prior to testing
- Development of detailed family pedigree chart
- Review of previous neurological evaluations and imaging studies
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 collection centers ensures accessible genetic testing services nationwide.
Take the Next Step Toward Genetic Clarity
Don’t let uncertainty about neurological symptoms delay your path to answers. Our specialized genetic testing provides the clarity needed for informed healthcare decisions. Contact our genetic counseling team today to schedule your CC2D2A Gene Joubert Syndrome Type 9 NGS Genetic DNA Test and take control of your genetic health journey.
Call or WhatsApp us today at +1(267) 388-9828 to book your appointment or learn more about our comprehensive neurological genetic testing services.
