TMEM237 Gene Joubert Syndrome Type 14 NGS Genetic DNA Test
Comprehensive Genetic Testing for Joubert Syndrome Type 14
The TMEM237 Gene Joubert Syndrome Type 14 NGS Genetic DNA Test represents a breakthrough in neurological genetic diagnostics, offering precise detection of mutations associated with Joubert syndrome type 14. This rare autosomal recessive disorder affects brain development and function, specifically targeting the cerebellum and brainstem. Our advanced testing methodology provides families and healthcare providers with definitive diagnostic information crucial for proper medical management and treatment planning.
What This Test Measures and Detects
This specialized genetic test utilizes Next-Generation Sequencing (NGS) technology to comprehensively analyze the TMEM237 gene for pathogenic variants. The test specifically identifies:
- Point mutations and small insertions/deletions in the TMEM237 gene
- Autosomal recessive inheritance patterns
- Genetic markers associated with cerebellar and brainstem malformations
- Specific variants linked to Joubert syndrome type 14 pathology
- Carrier status for family members
Who Should Consider This Test
This genetic test is recommended for individuals presenting with symptoms suggestive of Joubert syndrome, including:
- Infants and children with developmental delays and hypotonia
- Individuals exhibiting abnormal eye movements (nystagmus)
- Patients with irregular breathing patterns, especially during infancy
- Children showing coordination difficulties and ataxia
- Individuals with characteristic “molar tooth sign” on brain MRI
- Those with family history of Joubert syndrome or related neurological disorders
- Couples planning pregnancy with known family history of neurological conditions
Key Benefits of TMEM237 Genetic Testing
Undergoing this comprehensive genetic analysis provides numerous advantages for patients and families:
- Accurate Diagnosis: Provides definitive confirmation of Joubert syndrome type 14
- Early Intervention: Enables timely implementation of appropriate therapies and treatments
- Family Planning: Offers crucial information for genetic counseling and reproductive decisions
- Personalized Care: Guides development of targeted treatment strategies
- Prognostic Information: Helps predict disease progression and potential complications
- Research Contribution: Contributes to ongoing scientific understanding of rare neurological disorders
Understanding Your Test Results
Our comprehensive genetic counseling services help you interpret your TMEM237 gene test results:
- Positive Result: Indicates presence of pathogenic mutations confirming Joubert syndrome type 14 diagnosis
- Negative Result: Suggests absence of detectable TMEM237 mutations, though clinical evaluation remains important
- Variant of Uncertain Significance: Identifies genetic changes requiring further clinical correlation
- Carrier Status: Determines if individuals carry one copy of mutated gene without disease symptoms
All results are accompanied by detailed genetic counseling to ensure complete understanding and appropriate next steps.
Test Pricing and Details
| Test Component | Price (USD) |
|---|---|
| Discount Price | $500 |
| Regular Price | $700 |
Nationwide Testing Availability
We proudly serve patients across the United States with convenient testing locations in all major cities including New York, Los Angeles, Chicago, Houston, Phoenix, Philadelphia, San Antonio, San Diego, Dallas, and San Jose. Our comprehensive network ensures accessible genetic testing services for families nationwide.
Take the Next Step Toward Genetic Clarity
Don’t let uncertainty about neurological symptoms delay proper diagnosis and treatment. Our expert team of genetic counselors and neurologists is ready to help you understand your genetic health. Schedule your TMEM237 Gene Joubert Syndrome Type 14 NGS Genetic DNA Test today and take control of your neurological health journey.
Call or WhatsApp us now at +1(267) 388-9828 to book your appointment or learn more about our comprehensive genetic testing services.
