IFRD1 Gene Spinocerebellar Ataxia Type 18 Autosomal Dominant NGS Genetic DNA Test
Comprehensive Genetic Testing for Hereditary Neurological Disorders
The IFRD1 Gene Spinocerebellar Ataxia Type 18 autosomal dominant NGS genetic DNA test represents a breakthrough in neurological genetic diagnostics. This advanced testing methodology provides precise identification of mutations in the IFRD1 gene, which plays a critical role in the development and maintenance of cerebellar function. Spinocerebellar ataxia type 18 is a rare hereditary condition characterized by progressive degeneration of the cerebellum and spinal cord, leading to significant motor coordination challenges.
What This Test Measures and Detects
This sophisticated genetic analysis utilizes next-generation sequencing (NGS) technology to comprehensively examine the IFRD1 gene for pathogenic variants. The test specifically identifies:
- Point mutations and single nucleotide variants in the IFRD1 gene
- Small insertions and deletions affecting gene function
- Autosomal dominant inheritance pattern confirmation
- Specific genetic markers associated with spinocerebellar ataxia type 18
- Risk assessment for disease development and progression
Who Should Consider This Genetic Test
This comprehensive genetic evaluation is recommended for individuals experiencing:
- Progressive coordination difficulties and balance problems
- Unsteady gait and frequent falls without apparent cause
- Speech difficulties including slurred or scanning speech patterns
- Involuntary eye movements (nystagmus)
- Family history of hereditary ataxia or neurological disorders
- Unexplained muscle stiffness or spasticity
- Difficulty with fine motor skills and hand coordination
- Progressive cognitive changes in conjunction with motor symptoms
Significant Benefits of Genetic Testing
Undergoing the IFRD1 gene test provides numerous advantages for patients and families:
- Accurate Diagnosis: Provides definitive identification of spinocerebellar ataxia type 18, eliminating diagnostic uncertainty
- Family Planning Guidance: Enables informed reproductive decisions for individuals with hereditary risk
- Early Intervention: Facilitates timely implementation of therapeutic strategies and symptom management
- Personalized Treatment: Supports development of targeted treatment approaches based on genetic profile
- Prognostic Information: Offers insights into potential disease progression and expected symptom patterns
- Genetic Counseling: Provides foundation for comprehensive genetic counseling and family risk assessment
Understanding Your Test Results
Our genetic specialists provide detailed interpretation of your test findings:
- Positive Result: Indicates presence of pathogenic IFRD1 gene mutation, confirming spinocerebellar ataxia type 18 diagnosis
- Negative Result: Suggests absence of detectable mutations in the IFRD1 gene, though other genetic causes may require investigation
- Variant of Uncertain Significance: Identifies genetic changes with unclear clinical implications, requiring ongoing monitoring
- Carrier Status: Determines inheritance patterns and risk assessment for family members
All results include comprehensive genetic counseling to ensure complete understanding and appropriate next steps.
Test Pricing and Availability
| Price Type | Amount (USD) |
|---|---|
| Discount Price | $500 |
| Regular Price | $700 |
Turnaround Time: 3 to 4 Weeks
Sample Type: Blood, Extracted DNA, or One Drop Blood on FTA Card
Pre-Test Requirements
Before scheduling your test, please ensure:
- Complete clinical history documentation of neurological symptoms
- Genetic counseling session to create detailed family pedigree chart
- Discussion of testing implications with healthcare provider
- Understanding of potential outcomes and their significance
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 cities. Our network of certified genetic testing facilities ensures accessible, reliable service nationwide.
Take Control of Your Neurological Health
Don’t let uncertainty about hereditary neurological conditions impact your quality of life. The IFRD1 Gene Spinocerebellar Ataxia Type 18 test provides the clarity needed for informed healthcare decisions and proactive management of neurological health.
Call or WhatsApp us today at +1(267) 388-9828 to schedule your genetic test consultation and take the first step toward definitive diagnosis and personalized care.
Our team of genetic specialists and neurological experts is ready to guide you through the testing process, from initial consultation to comprehensive result interpretation and ongoing support.
