TMEM231 Gene Joubert Syndrome Type 20 NGS Genetic DNA Test
Comprehensive Genetic Screening for Joubert Syndrome Type 20
The TMEM231 Gene Joubert Syndrome Type 20 NGS Genetic DNA Test represents a breakthrough in neurological genetic diagnostics, offering precise identification of mutations associated with Joubert Syndrome Type 20. This rare autosomal recessive disorder affects cerebellar development and function, leading to significant neurological challenges. Our advanced testing methodology provides families and healthcare providers with definitive genetic information crucial for accurate diagnosis and personalized treatment planning.
What This Test Measures and Detects
This specialized genetic test utilizes Next-Generation Sequencing (NGS) technology to comprehensively analyze the TMEM231 gene for pathogenic variants. The test specifically identifies:
- Point mutations and single nucleotide variants in the TMEM231 gene
- Small insertions and deletions affecting gene function
- Copy number variations impacting neurological development
- Autosomal recessive inheritance patterns characteristic of Joubert Syndrome
- Genetic markers associated with cerebellar malformations
Who Should Consider This Genetic Test
This test is particularly recommended for individuals presenting with the following symptoms or clinical indications:
- Infants and children with developmental delays and hypotonia
- Individuals exhibiting abnormal eye movements (nystagmus) and breathing irregularities
- Patients with coordination difficulties and ataxia
- Children with the characteristic “molar tooth sign” on brain MRI
- Individuals with family history of Joubert Syndrome or related neurological disorders
- Couples with previous affected children planning future pregnancies
- Patients with unexplained neurological symptoms matching Joubert Syndrome criteria
Significant Benefits of Genetic Testing
Undergoing the TMEM231 Gene Joubert Syndrome Type 20 NGS Genetic DNA Test provides numerous advantages:
- Definitive Diagnosis: Eliminates diagnostic uncertainty and provides clear genetic confirmation
- Personalized Treatment: Enables targeted interventions and specialized care planning
- Family Planning Guidance: Provides crucial information for genetic counseling and reproductive decisions
- Early Intervention: Facilitates timely therapeutic interventions for optimal outcomes
- Research Contribution: Advances understanding of rare neurological disorders
- Peace of Mind: Reduces anxiety through definitive answers about genetic conditions
Understanding Your Test Results
Our comprehensive genetic counseling support helps you interpret your results effectively:
- Positive Result: Indicates presence of TMEM231 gene mutations associated with Joubert Syndrome Type 20
- Negative Result: Suggests absence of detectable mutations in the TMEM231 gene
- Variant of Uncertain Significance: Identifies genetic changes requiring further clinical correlation
- Carrier Status: Determines if individuals carry one copy of the mutated gene
All results are accompanied by detailed explanations and genetic counseling recommendations to ensure complete understanding and appropriate next steps.
Test Pricing and Availability
| Test Component | Price (USD) |
|---|---|
| TMEM231 Gene Joubert Syndrome Type 20 NGS Genetic DNA Test | $700 |
| Special Discount Price | $500 |
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 numerous other cities. Our comprehensive network ensures accessible genetic testing services for families nationwide.
Take Action Today
Don’t let uncertainty about neurological symptoms affect your family’s future. The TMEM231 Gene Joubert Syndrome Type 20 NGS Genetic DNA Test provides the clarity needed for informed medical decisions and personalized care planning. Our experienced genetic counselors and neurological specialists are ready to support you through every step of the testing process.
Call us today at +1(267) 388-9828 to schedule your genetic counseling session and book your test. Take the first step toward definitive answers and personalized neurological care.
