TCTN3 Gene Joubert Syndrome Type 18 NGS Genetic DNA Test
Comprehensive Genetic Testing for Joubert Syndrome Type 18
The TCTN3 Gene Joubert Syndrome Type 18 NGS Genetic DNA Test represents a breakthrough in neurological genetic diagnostics, offering precise detection of mutations in the TCTN3 gene associated with Joubert Syndrome Type 18. This rare neurological condition affects the cerebellum and brainstem development, leading to significant neurological challenges. Our advanced testing methodology provides families and healthcare providers with definitive genetic information crucial for accurate diagnosis and comprehensive care planning.
What Does This Test Measure and Detect?
This sophisticated genetic test specifically targets the TCTN3 gene using Next Generation Sequencing (NGS) technology to identify:
- Pathogenic variants and mutations in the TCTN3 gene
- Single nucleotide polymorphisms (SNPs) associated with Joubert Syndrome Type 18
- Copy number variations affecting gene function
- Novel genetic variants with potential clinical significance
- Inheritance patterns for family genetic counseling
Who Should Consider This Test?
This genetic test is recommended for individuals presenting with symptoms suggestive of Joubert Syndrome Type 18, including:
- Infants and children with developmental delays and motor coordination issues
- Individuals exhibiting abnormal eye movements (nystagmus) and breathing irregularities
- Patients with cerebellar abnormalities detected through brain imaging
- Family members of individuals diagnosed with Joubert Syndrome
- Couples with family history of neurological disorders planning pregnancy
- Individuals with unexplained ataxia and balance problems
Key Benefits of TCTN3 Genetic Testing
Choosing our comprehensive genetic testing provides numerous advantages:
- Early and Accurate Diagnosis: Enables timely intervention and management strategies
- Family Planning Guidance: Provides crucial information for genetic counseling and reproductive decisions
- Personalized Treatment Approaches: Helps neurologists develop targeted care plans
- Reduced Diagnostic Uncertainty: Eliminates prolonged diagnostic odyssey for families
- Comprehensive Genetic Counseling: Includes pre-test and post-test genetic counseling sessions
- Advanced Technology: Utilizes state-of-the-art NGS methodology for maximum accuracy
Understanding Your Test Results
Our comprehensive genetic report provides clear interpretation of your results:
- Positive Result: Indicates the presence of pathogenic TCTN3 gene mutations, confirming Joubert Syndrome Type 18 diagnosis
- Negative Result: Suggests absence of known disease-causing mutations in the TCTN3 gene
- Variant of Uncertain Significance: Identifies genetic changes requiring further clinical correlation
- Carrier Status: Determines if individuals carry one copy of mutated gene without showing symptoms
All results are accompanied by detailed explanations and recommendations from our certified genetic counselors.
Test Pricing Information
| Test Component | Price (USD) |
|---|---|
| Discount Price | $500 |
| Regular Price | $700 |
Nationwide Testing Availability
We have diagnostic centers conveniently located 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 network of certified genetic testing facilities ensures accessibility for patients nationwide.
Take the Next Step Toward Genetic Clarity
Don’t let uncertainty about neurological symptoms affect your quality of life. Our TCTN3 Gene Joubert Syndrome Type 18 NGS Genetic DNA Test provides the definitive answers you need for proper diagnosis and management. Contact our genetic specialists today to schedule your comprehensive evaluation and begin your journey toward genetic clarity and improved healthcare outcomes.
Call or WhatsApp our genetic counseling team at +1(267) 388-9828 to book your appointment or learn more about this essential neurological genetic test.
