TMEM138 Gene Joubert Syndrome Type 16 NGS Genetic DNA Test
Comprehensive Genetic Testing for Joubert Syndrome
The TMEM138 Gene Joubert Syndrome Type 16 NGS Genetic DNA Test represents a cutting-edge diagnostic approach for identifying mutations associated with Joubert syndrome type 16, a rare neurological disorder affecting brain development. This specialized genetic test provides crucial insights for patients and families dealing with complex neurological symptoms, enabling accurate diagnosis and informed treatment decisions.
What Does This Test Measure?
This advanced genetic screening specifically targets the TMEM138 gene, which plays a critical role in normal brain development and function. The test utilizes Next-Generation Sequencing (NGS) technology to comprehensively analyze the entire TMEM138 gene sequence, detecting:
- Point mutations and single nucleotide variations
- Small insertions and deletions
- Copy number variations affecting gene function
- Pathogenic variants linked to Joubert syndrome type 16
Who Should Consider This Test?
This genetic test is recommended for individuals displaying symptoms consistent with Joubert syndrome or those with a family history of neurological disorders. Key indications include:
- Infants and children with developmental delays
- Individuals with abnormal eye movements (nystagmus)
- Patients experiencing irregular breathing patterns
- Those demonstrating coordination difficulties and ataxia
- Individuals with characteristic “molar tooth sign” on brain MRI
- Family members of diagnosed Joubert syndrome patients
Clinical Benefits of Genetic Testing
Undergoing the TMEM138 Gene Joubert Syndrome Type 16 test provides numerous advantages for patients and healthcare providers:
- Accurate Diagnosis: Confirms or rules out Joubert syndrome type 16 with high precision
- Treatment Planning: Enables targeted therapeutic interventions and management strategies
- Genetic Counseling: Provides essential information for family planning decisions
- Prognostic Insights: Helps predict disease progression and potential complications
- Research Contribution: Advances understanding of rare neurological disorders
Understanding Your Test Results
Our comprehensive genetic counseling services help you interpret your TMEM138 gene test results:
- Positive Result: Indicates the presence of pathogenic mutations associated with Joubert syndrome type 16
- Negative Result: Suggests no detectable mutations in the TMEM138 gene
- Variant of Uncertain Significance: Identifies genetic changes with unknown clinical impact
- Carrier Status: Determines if individuals carry one copy of a mutated gene
All results are accompanied by detailed explanations from our certified genetic counselors 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 offer the TMEM138 Gene Joubert Syndrome Type 16 NGS Genetic DNA Test across our extensive network of testing facilities throughout the United States. Our state-of-the-art laboratories serve patients in all major metropolitan areas including New York, Los Angeles, Chicago, Houston, Phoenix, Philadelphia, San Antonio, San Diego, Dallas, and San Jose. Each location maintains the highest standards of genetic testing excellence and patient care.
Take the Next Step Toward Genetic Clarity
Don’t let uncertainty about neurological symptoms affect your quality of life. Our specialized genetic testing provides the answers you need for proper diagnosis and treatment planning. Contact our genetic counseling team today to schedule your TMEM138 Gene Joubert Syndrome Type 16 NGS Genetic DNA Test and take control of your neurological health.
Call or WhatsApp us today at +1(267) 388-9828 to book your appointment or learn more about our comprehensive genetic testing services.
