ITPR1 Gene Spinocerebellar Ataxia Type 29 Congenital Nonprogressive NGS Genetic DNA Test
Comprehensive Genetic Testing for Neurological Disorders
The ITPR1 Gene Spinocerebellar Ataxia Type 29 congenital nonprogressive NGS Genetic DNA Test represents a breakthrough in neurological genetic diagnostics. This advanced test specifically targets mutations in the ITPR1 (inositol 1,4,5-trisphosphate receptor type 1) gene, which plays a critical role in calcium signaling within cerebellar Purkinje cells. When this gene malfunctions, it leads to Spinocerebellar Ataxia Type 29 – a rare congenital condition characterized by nonprogressive coordination difficulties that typically manifest in early childhood.
What This Test Measures and Detects
Our NGS-based genetic test provides comprehensive analysis of the ITPR1 gene to identify:
- Point mutations and single nucleotide variants affecting gene function
- Small insertions and deletions that disrupt protein structure
- Copy number variations impacting gene dosage
- Specific pathogenic variants known to cause SCA29
- Novel mutations that may contribute to the disorder
The test utilizes state-of-the-art Next Generation Sequencing technology, offering unparalleled accuracy in detecting even the most subtle genetic alterations. This comprehensive approach ensures that patients receive definitive diagnostic information crucial for proper management and family planning.
Who Should Consider This Genetic Test
This specialized genetic test is recommended for individuals presenting with:
- Early-onset ataxia appearing in infancy or early childhood
- Nonprogressive coordination difficulties and balance problems
- Delayed motor milestones such as sitting, standing, or walking
- Nystagmus (involuntary eye movements) and other ocular abnormalities
- Family history of similar neurological symptoms
- Unexplained developmental delays with cerebellar features
- Suspected inherited movement disorders
Significant Benefits of Genetic Testing
Undergoing the ITPR1 gene test provides numerous advantages for patients and families:
- Accurate Diagnosis: Confirms or rules out SCA29, eliminating diagnostic uncertainty
- Family Planning Guidance: Provides information about inheritance patterns and recurrence risks
- Personalized Management: Enables targeted interventions and appropriate care planning
- Early Intervention: Facilitates timely implementation of supportive therapies
- Genetic Counseling: Offers comprehensive understanding of test results and implications
- Research Contribution: Advances scientific knowledge about rare neurological conditions
Understanding Your Test Results
Our genetic specialists provide detailed interpretation of your results:
- Positive Result: Indicates the presence of a pathogenic ITPR1 mutation confirming SCA29 diagnosis
- Negative Result: Suggests that ITPR1 mutations are not the cause of symptoms, guiding further diagnostic evaluation
- Variant of Uncertain Significance: Identifies genetic changes requiring additional research and family studies
- Carrier Status: Determines if individuals carry the mutation without showing symptoms
All results include comprehensive genetic counseling to ensure complete understanding and appropriate next steps.
Test Pricing and Details
| Test Component | Details |
|---|---|
| Test Name | ITPR1 Gene Spinocerebellar Ataxia Type 29 Congenital Nonprogressive 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 |
| Testing Method | Next Generation Sequencing (NGS) Technology |
Pre-Test Requirements
Before testing, we recommend:
- Complete clinical history documentation of the patient
- Genetic counseling session to discuss testing implications
- Development of a detailed pedigree chart documenting affected family members
- Discussion of potential outcomes and their significance
- Informed consent process ensuring understanding of test limitations and benefits
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, Austin, Jacksonville, Fort Worth, Columbus, Charlotte, San Francisco, Indianapolis, Seattle, Denver, Washington DC, Boston, El Paso, Nashville, Detroit, Oklahoma City, Portland, Las Vegas, Memphis, Louisville, Baltimore, and Milwaukee.
Take Control of Your Neurological Health
Don’t let uncertainty about neurological symptoms affect your quality of life. Our comprehensive ITPR1 genetic testing provides the clarity needed for informed healthcare decisions and proper management of congenital ataxia conditions. With our discounted price of $500 USD and nationwide availability, accessing advanced genetic diagnostics has never been more convenient.
Ready to schedule your test? Call our genetic specialists today at +1(267) 388-9828 or book your appointment online. Take the first step toward definitive diagnosis and personalized care planning.
