CCDC88C Gene Hydrocephalus Nonsyndromic Autosomal Recessive Type 1 NGS Genetic DNA Test
Understanding CCDC88C Gene Hydrocephalus Testing
The CCDC88C Gene Hydrocephalus Nonsyndromic Autosomal Recessive Type 1 NGS Genetic DNA Test represents a breakthrough in neurological genetic diagnostics. This advanced test specifically targets mutations in the CCDC88C gene, which plays a critical role in brain development and cerebrospinal fluid regulation. Hydrocephalus, characterized by excessive fluid accumulation in the brain, can lead to severe neurological complications if left undetected.
Our comprehensive genetic analysis utilizes state-of-the-art Next-Generation Sequencing technology to provide accurate, reliable results for families concerned about hereditary hydrocephalus conditions. Early detection through genetic testing can significantly impact treatment outcomes and quality of life for affected individuals.
What This Test Measures and Detects
The CCDC88C Gene Hydrocephalus Test employs sophisticated NGS methodology to identify:
- Pathogenic variants in the CCDC88C gene associated with autosomal recessive hydrocephalus type 1
- Single nucleotide polymorphisms (SNPs) affecting cerebrospinal fluid dynamics
- Deletion and duplication mutations impacting brain development
- Genetic markers indicating increased risk for nonsyndromic hydrocephalus
- Inheritance patterns for family planning purposes
Who Should Consider This Genetic Test
This specialized genetic test is recommended for individuals and families experiencing:
- Family history of congenital hydrocephalus or unexplained neurological conditions
- Infants or children presenting with enlarged head circumference
- Unexplained developmental delays in motor skills or cognitive function
- Previous pregnancies affected by hydrocephalus or related neurological disorders
- Consanguineous relationships with increased genetic risk factors
- Planning for future pregnancies with concerns about hereditary conditions
Common Symptoms and Clinical Indications
- Progressive head enlargement in infants
- Bulging fontanelles (soft spots on baby’s head)
- Vomiting, sleepiness, and irritability
- Seizures or developmental regression
- Poor feeding and growth patterns
- Downward gaze deviation (“sunsetting” eyes)
Benefits of CCDC88C Genetic Testing
Choosing our comprehensive genetic analysis provides numerous advantages:
- Early Intervention: Enables prompt medical management and treatment planning
- Family Planning: Provides crucial information for reproductive decisions
- Accurate Diagnosis: Confirms genetic basis for neurological symptoms
- Personalized Care: Guides targeted therapeutic approaches
- Peace of Mind: Reduces uncertainty about hereditary risks
- Comprehensive Analysis: Utilizes advanced NGS technology for thorough genetic assessment
Understanding Your Test Results
Our genetic counseling team provides comprehensive interpretation of your CCDC88C test results:
Positive Result Interpretation
A positive result indicates the presence of pathogenic mutations in the CCDC88C gene. This confirms the genetic diagnosis of autosomal recessive hydrocephalus type 1. Our genetic counselors will discuss:
- Medical management options and specialist referrals
- Treatment strategies including potential surgical interventions
- Family testing recommendations
- Reproductive planning considerations
Negative Result Interpretation
A negative result suggests no detectable mutations in the CCDC88C gene. However, this doesn’t completely rule out other genetic or environmental causes of hydrocephalus. Our team will discuss:
- Alternative diagnostic possibilities
- Additional testing recommendations if symptoms persist
- General neurological health monitoring
Variant of Uncertain Significance (VUS)
If a genetic variant of uncertain significance is identified, our specialists will provide:
- Detailed explanation of the finding
- Recommendations for family member testing
- Ongoing monitoring of scientific literature for variant reclassification
Test Details and Pricing
| Test Feature | Details |
|---|---|
| Test Name | CCDC88C Gene Hydrocephalus Nonsyndromic Autosomal Recessive Type 1 NGS Genetic DNA Test |
| Regular Price | $700 USD |
| Discount Price | $500 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 accurate testing and comprehensive care, we require:
- Complete clinical history of the patient undergoing testing
- Genetic counseling session to create detailed family pedigree chart
- Documentation of affected family members with hydrocephalus symptoms
- Informed consent for genetic testing and result disclosure
Nationwide Testing Availability
We proudly serve patients across the United States with convenient testing locations in all major cities including:
- New York, NY
- Los Angeles, CA
- Chicago, IL
- Houston, TX
- Phoenix, AZ
- Philadelphia, PA
- San Antonio, TX
- San Diego, CA
- Dallas, TX
- San Jose, CA
Our network of certified genetic counselors and neurological specialists ensures you receive comprehensive care regardless of your location.
Take Control of Your Genetic Health Today
Don’t let uncertainty about hereditary hydrocephalus affect your family’s future. Our CCDC88C Gene Hydrocephalus Test provides the clarity and information you need to make informed healthcare decisions.
Call or WhatsApp us now at +1(267) 388-9828 to schedule your genetic counseling session and book your test. Our compassionate team is ready to guide you through every step of the testing process and help you understand your results.
Early detection through genetic testing can make a significant difference in managing hydrocephalus and planning for your family’s health future. Contact us today to take the first step toward genetic clarity and peace of mind.
