ITPR1 Gene Gillespie Syndrome NGS Genetic DNA Test
Comprehensive Genetic Testing for Neurological Disorders
The ITPR1 Gene Gillespie Syndrome NGS Genetic DNA Test represents a breakthrough in neurological genetic diagnostics, offering precise detection of mutations associated with Gillespie syndrome. This rare autosomal dominant disorder affects multiple body systems and requires specialized genetic analysis for accurate diagnosis and management.
What Does This Test Measure?
This advanced genetic test specifically targets the ITPR1 (Inositol 1,4,5-Trisphosphate Receptor Type 1) gene using Next-Generation Sequencing technology. The test identifies:
- Pathogenic variants in the ITPR1 gene
- Single nucleotide polymorphisms (SNPs)
- Insertions and deletions (indels)
- Copy number variations (CNVs)
- Missense, nonsense, and frameshift mutations
Who Should Consider This Test?
Individuals presenting with the following symptoms should consider the ITPR1 Gene Gillespie Syndrome test:
- Progressive cerebellar ataxia and coordination difficulties
- Intellectual disability or developmental delays
- Congenital cataracts or other ocular abnormalities
- Family history of Gillespie syndrome
- Unexplained neurological symptoms in childhood
- Muscle weakness or hypotonia
- Speech and language development issues
Key Benefits of Testing
- Accurate Diagnosis: Provides definitive identification of ITPR1 gene mutations
- Family Planning: Enables informed reproductive decisions
- Treatment Guidance: Helps neurologists develop targeted treatment strategies
- Early Intervention: Facilitates timely management of symptoms
- Genetic Counseling: Supports families in understanding inheritance patterns
Understanding Your Test Results
Your genetic test results will be carefully interpreted by our team of certified genetic counselors and neurologists:
- Positive Result: Indicates the presence of a pathogenic ITPR1 mutation, confirming Gillespie syndrome diagnosis
- Negative Result: Suggests no detectable ITPR1 mutation, though other genetic causes may need investigation
- Variant of Uncertain Significance (VUS): Requires additional family studies and clinical correlation
- Carrier Status: Important information for family planning decisions
Test Pricing Information
| Test Component | Price (USD) |
|---|---|
| Discount Price | $500 |
| Regular Price | $700 |
Nationwide Testing Availability
We have diagnostic centers conveniently located across the United States, including major metropolitan areas such as New York, Los Angeles, Chicago, Houston, Phoenix, Philadelphia, San Antonio, San Diego, Dallas, and San Jose. Our state-of-the-art facilities ensure consistent, high-quality testing standards nationwide.
Take Action Today
Don’t let uncertainty about neurological symptoms affect your quality of life. Our comprehensive ITPR1 Gene Gillespie Syndrome NGS Genetic DNA Test provides the answers you need for proper diagnosis and management. Contact our genetic counseling team today to schedule your test and take the first step toward clarity and effective treatment.
Call or WhatsApp us at +1(267) 388-9828 to book your appointment or learn more about our genetic testing services.
