TCTN1 Gene Joubert Syndrome Type 13 NGS Genetic DNA Test
Comprehensive Genetic Testing for Neurological Disorders
The TCTN1 Gene Joubert Syndrome Type 13 NGS Genetic DNA Test represents a breakthrough in neurological genetic diagnostics, offering precise identification of mutations associated with Joubert syndrome type 13. This rare autosomal recessive disorder affects cerebellar and brainstem development, leading to distinctive neurological symptoms that can significantly impact quality of life. Our advanced next-generation sequencing technology provides unparalleled accuracy in detecting TCTN1 gene variations, enabling healthcare providers to make informed clinical decisions and develop targeted treatment strategies.
What Does This Test Measure and Detect?
This sophisticated genetic analysis specifically targets the TCTN1 gene, which encodes the tectonic family member 1 protein crucial for ciliary function and neuronal development. The test employs next-generation sequencing (NGS) technology to comprehensively examine:
- Complete TCTN1 gene sequencing for point mutations
- Detection of small insertions and deletions
- Identification of copy number variations
- Assessment of splice site mutations
- Comprehensive variant analysis and interpretation
Who Should Consider TCTN1 Genetic Testing?
This specialized genetic test is recommended for individuals presenting with symptoms suggestive of Joubert syndrome or related neurological conditions:
- Infants and children with developmental delays and hypotonia
- Individuals exhibiting abnormal eye movements (nystagmus)
- Patients with breathing irregularities, particularly episodic hyperpnea
- Children showing coordination difficulties and ataxia
- Individuals with intellectual disability of unknown origin
- Patients with characteristic molar tooth sign on brain MRI
- Family members of individuals diagnosed with Joubert syndrome
Key Benefits of TCTN1 Genetic Testing
Undergoing TCTN1 genetic testing provides numerous advantages for patients and families:
- Definitive Diagnosis: Confirms or rules out Joubert syndrome type 13 with high accuracy
- Early Intervention: Enables timely implementation of supportive therapies and treatments
- Family Planning: Provides crucial information for reproductive decision-making
- Personalized Care: Guides development of individualized treatment plans
- Prognostic Information: Helps predict disease progression and potential complications
- Genetic Counseling: Supports informed family discussions about inheritance patterns
Understanding Your Test Results
Our comprehensive genetic analysis provides detailed insights into your TCTN1 gene status:
- Positive Result: Indicates the presence of pathogenic mutations confirming Joubert syndrome type 13 diagnosis
- Negative Result: Suggests absence of detectable TCTN1 mutations, though other genetic causes may need investigation
- Variant of Uncertain Significance: Identifies genetic changes requiring further clinical correlation
- Carrier Status: Determines if you carry one copy of a mutated gene without showing symptoms
All results include detailed interpretation by our board-certified genetic specialists, with recommendations for next steps and management strategies.
Test Pricing and Details
| Test Component | Details |
|---|---|
| Test Name | TCTN1 Gene Joubert Syndrome Type 13 NGS Genetic DNA Test |
| Discount Price | $500 USD |
| Regular Price | $700 USD |
| Turnaround Time | 3 to 4 Weeks |
| Sample Type | Blood, Extracted DNA, or One Drop Blood on FTA Card |
| Methodology | Next-Generation Sequencing (NGS) Technology |
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 many more. Our network of certified genetic counselors and phlebotomists ensures accessible, professional testing services wherever you are located.
Take the Next Step Toward Genetic Clarity
Don’t let uncertainty about neurological symptoms affect your quality of life. Our TCTN1 genetic testing provides the answers you need to make informed healthcare decisions. Contact our genetic specialists today to schedule your test and begin your journey toward definitive diagnosis and personalized care.
Call or WhatsApp us now at +1(267) 388-9828 to book your TCTN1 Gene Joubert Syndrome Type 13 NGS Genetic DNA Test and take advantage of our special $500 pricing!
