KIAA0586 Gene Joubert Syndrome Type 23 NGS Genetic DNA Test
Comprehensive Genetic Testing for Joubert Syndrome Type 23
The KIAA0586 Gene Joubert Syndrome Type 23 NGS Genetic DNA Test represents a breakthrough in neurological genetic diagnostics, offering families and healthcare providers crucial insights into this rare genetic condition. Joubert Syndrome Type 23 is a complex neurodevelopmental disorder characterized by specific brain malformations and associated clinical features that can significantly impact quality of life.
What This Advanced Genetic Test Measures
This sophisticated diagnostic test specifically targets the KIAA0586 gene using Next Generation Sequencing (NGS) technology to identify pathogenic variants responsible for Joubert Syndrome Type 23. The test examines:
- Complete sequencing of the KIAA0586 gene coding regions
- Detection of point mutations, insertions, and deletions
- Analysis of splice site variants affecting gene function
- Comprehensive coverage of all known pathogenic variants
Who Should Consider This Genetic Test
This test is particularly 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 breathing irregularities, especially in infancy
- Children showing coordination difficulties and ataxia
- Individuals with the characteristic “molar tooth sign” on brain MRI
- Those with a family history of Joubert Syndrome or related neurological conditions
Significant Benefits of Genetic Testing
Undergoing the KIAA0586 Gene Joubert Syndrome Type 23 test provides numerous advantages:
- Accurate Diagnosis: Confirms or rules out Joubert Syndrome Type 23 with high precision
- Family Planning: Enables informed reproductive decisions for at-risk families
- Personalized Care: Guides appropriate medical management and interventions
- Early Intervention: Facilitates timely therapeutic approaches for better outcomes
- Genetic Counseling: Provides essential information for family members
Understanding Your Test Results
Our comprehensive genetic counseling services help you interpret your results effectively:
- Positive Result: Indicates the presence of a pathogenic variant in the KIAA0586 gene, confirming Joubert Syndrome Type 23 diagnosis
- Negative Result: Suggests no pathogenic variants were detected, though clinical correlation remains essential
- Variant of Uncertain Significance: Requires additional family studies and clinical evaluation
- Carrier Status: Identifies individuals who may pass the condition to offspring
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 counselors and neurological specialists ensures comprehensive care throughout your testing journey.
Pre-Test Requirements
To ensure optimal testing outcomes, we recommend:
- Complete clinical history documentation
- Genetic counseling session with pedigree analysis
- Appropriate sample collection (blood, extracted DNA, or FTA card)
- 3-4 week turnaround time for comprehensive analysis
Take the Next Step Toward Genetic Clarity
Don’t let uncertainty about neurological symptoms affect your family’s future. Our expert team of genetic counselors and neurological specialists is ready to guide you through the testing process with compassion and expertise.
Call or WhatsApp us today at +1(267) 388-9828 to schedule your genetic counseling session and book your KIAA0586 Gene Joubert Syndrome Type 23 NGS Genetic DNA Test. Take control of your genetic health with confidence and clarity.
