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TCTN2 Gene Joubert Syndrome Type 24 Genetic Test

Original price was: $700.Current price is: $500.

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The TCTN2 Gene Joubert Syndrome Type 24 NGS Genetic DNA Test is a cutting-edge genetic screening that identifies mutations in the TCTN2 gene associated with Joubert Syndrome Type 24, a rare neurological disorder affecting brain development. This comprehensive test utilizes Next-Generation Sequencing (NGS) technology to provide precise detection of genetic variations that cause cerebellar and brainstem malformations. The test is crucial for individuals experiencing developmental delays, abnormal eye movements, breathing pattern irregularities, or coordination difficulties. Early diagnosis enables proactive management strategies and personalized treatment approaches. Results are typically available within 3-4 weeks from sample collection. The test is priced at $500 USD, offering significant savings from the regular $700 price. Genetic counseling is recommended before testing to understand family history implications.

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TCTN2 Gene Joubert Syndrome Type 24 NGS Genetic DNA Test

Comprehensive Genetic Screening for Neurological Disorders

The TCTN2 Gene Joubert Syndrome Type 24 NGS Genetic DNA Test represents a breakthrough in neurological genetic diagnostics, offering precise detection capabilities for one of the rarest forms of Joubert syndrome. This advanced genetic screening utilizes cutting-edge Next-Generation Sequencing technology to identify mutations in the TCTN2 gene, which plays a critical role in ciliary function and brain development. Early identification of these genetic variations can significantly impact treatment outcomes and quality of life for affected individuals.

What Does This Test Measure?

This comprehensive genetic analysis specifically targets the TCTN2 gene, examining it for pathogenic variants that cause Joubert Syndrome Type 24. The test employs sophisticated NGS methodology to sequence the entire coding region of the TCTN2 gene, detecting:

  • Point mutations and single nucleotide variants
  • Small insertions and deletions
  • Copy number variations
  • Splice site mutations affecting gene function
  • Novel variants with potential clinical significance

Who Should Consider This Genetic Test?

This specialized genetic screening is recommended for individuals presenting with symptoms suggestive of Joubert syndrome or those with a family history of neurological disorders. Key indications include:

  • Infants and children with developmental delays in motor skills
  • Individuals exhibiting abnormal eye movements (nystagmus)
  • Patients with irregular breathing patterns, especially during infancy
  • Children experiencing coordination difficulties and balance problems
  • Individuals with intellectual disability of unknown origin
  • Those with a family history of Joubert syndrome or related ciliopathies
  • Patients with cerebellar abnormalities detected on brain imaging

Clinical Benefits of Early Detection

Early identification of TCTN2 gene mutations provides numerous clinical advantages for patients and their families:

  • Personalized Treatment Planning: Enables targeted interventions and therapies specific to Joubert Syndrome Type 24
  • Family Planning Guidance: Provides crucial information for genetic counseling and reproductive decisions
  • Proactive Management: Allows for early implementation of supportive care and developmental interventions
  • Accurate Prognosis: Helps healthcare providers establish realistic expectations and long-term care plans
  • Research Contribution: Contributes to ongoing scientific understanding of rare neurological disorders

Understanding Your Test Results

Our comprehensive genetic report provides detailed interpretation of your TCTN2 gene analysis with clear clinical guidance:

  • Positive Result: Indicates the presence of a pathogenic mutation in the TCTN2 gene, confirming Joubert Syndrome Type 24 diagnosis
  • Negative Result: Suggests no disease-causing mutations were detected in the TCTN2 gene
  • Variant of Uncertain Significance: Identifies genetic changes with unknown clinical impact, requiring further evaluation
  • Carrier Status: Determines if an individual carries one copy of a mutated gene without showing symptoms

All results are accompanied by detailed explanations and recommendations for follow-up care with qualified genetic specialists.

Test Pricing and Availability

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 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 testing facilities ensures accessibility and convenience for patients nationwide.

Take Control of Your Genetic Health Today

Don’t wait to get the answers you need for proper diagnosis and treatment planning. Our experienced genetic counselors and neurological specialists are ready to assist you through every step of the testing process. Contact us today to schedule your TCTN2 Gene Joubert Syndrome Type 24 NGS Genetic DNA Test and take the first step toward understanding your genetic health.

Call or WhatsApp us now at +1(267) 388-9828 to book your appointment or request more information about this essential genetic screening.