APTX Gene Ataxia-Oculomotor Apraxia Type 1 NGS Genetic DNA Test
Comprehensive Genetic Testing for Neurological Disorders
The APTX Gene Ataxia-Oculomotor Apraxia Type 1 NGS Genetic DNA Test represents a breakthrough in neurological genetic diagnostics, providing precise identification of mutations in the APTX gene associated with this rare inherited condition. Ataxia-oculomotor apraxia type 1 (AOA1) is an autosomal recessive neurodegenerative disorder characterized by progressive cerebellar ataxia, oculomotor apraxia, and various neurological manifestations. Early and accurate genetic diagnosis is essential for proper disease management, prognosis assessment, and family planning decisions.
What This Advanced Genetic Test Detects
This comprehensive Next-Generation Sequencing (NGS) test specifically analyzes the APTX (aprataxin) gene to identify pathogenic variants responsible for AOA1. The test examines:
- Complete coding regions of the APTX gene
- Exon-intron boundaries for splice site mutations
- Known pathogenic variants and novel mutations
- Copy number variations affecting gene function
- Sequence variations impacting protein structure and function
Who Should Consider This Genetic Test
This test is recommended for individuals presenting with symptoms suggestive of AOA1 or those with a family history of neurological disorders. Key indications include:
- Progressive cerebellar ataxia beginning in childhood or early adulthood
- Oculomotor apraxia (difficulty moving eyes voluntarily)
- Choreoathetosis (involuntary movements)
- Peripheral neuropathy with sensory and motor involvement
- Cognitive impairment or learning difficulties
- Family history of similar neurological symptoms
- Consanguineous parents with neurological concerns
- Unexplained progressive coordination difficulties
Significant Benefits of Genetic Testing
Undergoing APTX gene testing provides numerous advantages for patients and families:
- Accurate Diagnosis: Confirms or rules out AOA1 with high precision
- Early Intervention: Enables timely management strategies
- Family Planning: Provides crucial information for reproductive decisions
- Prognostic Information: Helps predict disease progression and outcomes
- Targeted Management: Guides appropriate therapeutic approaches
- Genetic Counseling: Supports informed decision-making for family members
- Research Contribution: Advances understanding of rare neurological disorders
Understanding Your Test Results
Our comprehensive genetic report provides clear interpretation of your results with clinical context:
- Positive Result: Identifies pathogenic variants in the APTX gene, confirming AOA1 diagnosis and enabling appropriate management
- Negative Result: No pathogenic variants detected, though clinical correlation remains essential
- Variant of Uncertain Significance: Identifies genetic changes requiring further clinical evaluation
- Carrier Status: Identifies individuals with one mutated copy who may pass the condition to offspring
All results include detailed explanations and recommendations for follow-up care with neurologists and genetic counselors.
Test Details and Pricing
| Test Component | Details |
|---|---|
| Test Name | APTX Gene Ataxia-Oculomotor Apraxia Type 1 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 |
| Specialty | Neurology & Genetics |
Pre-Test Requirements
To ensure optimal testing outcomes, we recommend:
- Complete clinical history documentation
- Genetic counseling session before testing
- Family pedigree chart development
- Neurological examination records
- Informed consent for genetic testing
Nationwide Accessibility
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 services nationwide.
Take Control of Your Neurological Health
Don’t let uncertainty about neurological symptoms affect your quality of life. Early genetic diagnosis of APTX gene mutations can provide clarity, guide treatment decisions, and offer peace of mind for you and your family. Our expert team of genetic counselors and neurologists is ready to support you through every step of the testing process.
Ready to schedule your APTX Gene Ataxia-Oculomotor Apraxia Type 1 NGS Genetic DNA Test? Contact our genetic specialists today at +1(267) 388-9828 or book your appointment online. Take the first step toward understanding your genetic health and accessing personalized neurological care.
