SPATA5 Gene Epilepsy, Hearing Loss, and Mental Retardation Syndrome NGS Genetic DNA Test
Comprehensive Genetic Testing for Neurological Disorders
The SPATA5 Gene Epilepsy, Hearing Loss, and Mental Retardation Syndrome NGS Genetic DNA Test represents a breakthrough in precision medicine for neurological conditions. This advanced diagnostic tool utilizes cutting-edge next-generation sequencing technology to identify mutations in the SPATA5 gene, which plays a critical role in neurological development and function. Understanding the genetic basis of these complex symptoms enables healthcare providers to deliver targeted interventions and personalized care strategies.
What Does This Test Measure and Detect?
This comprehensive genetic analysis specifically targets the SPATA5 gene, which encodes a protein essential for normal brain development and auditory function. The test detects:
- Pathogenic variants in the SPATA5 gene associated with neurological disorders
- Specific mutations linked to early-onset epilepsy syndromes
- Genetic markers for progressive sensorineural hearing loss
- Variations connected to intellectual disability and developmental delays
- Inheritance patterns that inform family risk assessment
Who Should Consider This Genetic Test?
This specialized genetic testing is recommended for individuals presenting with:
- Unexplained early-onset epilepsy or seizure disorders
- Progressive hearing loss beginning in infancy or early childhood
- Developmental delays or intellectual disability without clear cause
- Family history of similar neurological and auditory symptoms
- Multiple neurological symptoms that suggest an underlying genetic condition
- Children with developmental regression or loss of previously acquired skills
Key Benefits of SPATA5 Genetic Testing
Undergoing this comprehensive genetic analysis provides numerous advantages for patients and families:
- Accurate Diagnosis: Provides definitive identification of the underlying genetic cause
- Personalized Treatment: Enables targeted therapeutic approaches based on genetic findings
- Family Planning Guidance: Informs reproductive decisions and genetic counseling
- Prognostic Information: Helps predict disease progression and potential complications
- Early Intervention: Facilitates timely implementation of supportive therapies
- Reduced Diagnostic Odyssey: Minimizes unnecessary testing and medical procedures
Understanding Your Test Results
Your genetic test results will be carefully interpreted by our team of certified genetic counselors and neurologists. Results typically fall into three categories:
- Positive Result: Indicates the presence of a pathogenic SPATA5 gene mutation, confirming the diagnosis and enabling targeted management strategies
- Negative Result: Suggests that SPATA5 mutations are not the cause of symptoms, guiding further diagnostic evaluation
- Variant of Uncertain Significance: Identifies genetic changes whose clinical significance requires additional research and monitoring
All results include comprehensive genetic counseling to ensure complete understanding and appropriate next steps.
Test Pricing and Details
| Test Feature | Details |
|---|---|
| Test Name | SPATA5 Gene Epilepsy, Hearing Loss, and Mental Retardation Syndrome NGS Genetic DNA Test |
| Regular Price | $700 USD |
| Discount Price | $500 USD |
| Turnaround Time | 3 to 4 Weeks |
| Sample Type | Blood, Extracted DNA, or One Drop Blood on FTA Card |
| Methodology | Next-Generation Sequencing (NGS) Technology |
Nationwide Accessibility
We have diagnostic centers conveniently located across the United States, serving major metropolitan areas including New York, Los Angeles, Chicago, Houston, Phoenix, Philadelphia, San Antonio, San Diego, Dallas, and San Jose. Our network of certified genetic counselors and neurological specialists ensures comprehensive care regardless of your location.
Take the Next Step Toward Clarity
If you or a loved one are experiencing symptoms that may be related to SPATA5 gene mutations, don’t delay in seeking answers. Our team of genetic specialists and neurologists is ready to provide the comprehensive testing and support you need. Contact us today to schedule your genetic counseling session and begin the diagnostic process.
Call or WhatsApp us at +1(267) 388-9828 to book your SPATA5 Genetic DNA Test today and take the first step toward understanding your neurological health.
