ITPR1 Gene Spinocerebellar Ataxia Type 15 NGS Genetic DNA Test
Comprehensive Introduction to ITPR1 Genetic Testing
The ITPR1 Gene Spinocerebellar Ataxia Type 15 NGS Genetic DNA Test represents a breakthrough in neurological genetic diagnostics, offering precise detection of mutations associated with hereditary ataxia disorders. Spinocerebellar ataxia type 15 (SCA15) is a rare autosomal dominant neurodegenerative condition characterized by progressive cerebellar dysfunction, affecting coordination, balance, and fine motor skills. This advanced testing methodology provides crucial insights for patients and healthcare providers navigating complex neurological conditions.
What Does the ITPR1 Genetic Test Measure?
This sophisticated diagnostic test specifically targets the ITPR1 gene (inositol 1,4,5-trisphosphate receptor type 1), which plays a critical role in calcium signaling within cerebellar Purkinje cells. The test utilizes Next-Generation Sequencing (NGS) technology to identify:
- Point mutations and single nucleotide variants in the ITPR1 gene
- Small insertions and deletions affecting gene function
- Specific genetic markers associated with SCA15 development
- Inheritance patterns of ataxia-related genetic variations
Who Should Consider ITPR1 Genetic Testing?
Clinical Indications and Symptoms
This test is particularly recommended for individuals experiencing:
- Progressive gait instability and balance difficulties
- Uncoordinated movements (ataxia) without clear cause
- Family history of cerebellar ataxia or neurodegenerative disorders
- Early-onset coordination problems in childhood or adulthood
- Speech difficulties (dysarthria) related to cerebellar dysfunction
- Eye movement abnormalities including nystagmus
Significant Benefits of ITPR1 Genetic Testing
Undergoing ITPR1 genetic testing provides numerous advantages for patients and families:
- Accurate Diagnosis: Confirms or rules out SCA15 with high precision
- Early Intervention: Enables proactive management of symptoms
- Family Planning Guidance: Informs reproductive decisions and genetic counseling
- Treatment Direction: Guides appropriate therapeutic approaches
- Psychological Relief: Provides clarity and reduces diagnostic uncertainty
- Research Contribution: Advances understanding of rare neurological conditions
Understanding Your Test Results
Our comprehensive genetic counseling service helps interpret your ITPR1 test results:
- Positive Result: Indicates presence of ITPR1 mutation associated with SCA15
- Negative Result: Suggests absence of tested ITPR1 mutations
- Variant of Uncertain Significance: Requires further clinical correlation
- Carrier Status: Information about genetic risk to offspring
All results include detailed explanations from certified genetic counselors who specialize in neurological disorders.
Test Pricing and Details
| Test Feature | Details |
|---|---|
| Test Name | ITPR1 Gene Spinocerebellar Ataxia Type 15 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 |
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 collection centers ensures accessible genetic testing for neurological disorders nationwide.
Take Control of Your Neurological Health Today
Don’t let uncertainty about hereditary ataxia conditions affect your quality of life. Our specialized ITPR1 genetic testing provides the answers you need for informed healthcare decisions. Schedule your appointment now to begin your journey toward clarity and proper management of neurological symptoms.
Call or WhatsApp us today at +1(267) 388-9828 to book your ITPR1 Gene Spinocerebellar Ataxia Type 15 NGS Genetic DNA Test and take the first step toward understanding your genetic health.
