SLC6A5 Gene Hyperekplexia NGS Genetic DNA Test
Comprehensive Introduction to Hyperekplexia Genetic Testing
The SLC6A5 Gene Hyperekplexia NGS Genetic DNA Test represents a breakthrough in neurological genetic diagnostics, offering precise identification of mutations responsible for hereditary hyperekplexia. This condition, commonly known as startle disease, is characterized by exaggerated startle responses to unexpected stimuli. Our advanced testing methodology provides definitive answers for patients and families affected by this challenging neurological disorder, enabling accurate diagnosis and targeted treatment approaches.
What Does the SLC6A5 Gene Hyperekplexia Test Measure?
This sophisticated genetic test specifically analyzes the SLC6A5 gene using Next Generation Sequencing technology to detect:
- Pathogenic variants in the glycine transporter 2 (GlyT2) gene
- Mutations affecting glycine neurotransmission in the spinal cord and brainstem
- Genetic alterations that disrupt inhibitory neurotransmission pathways
- Inherited variations associated with autosomal recessive hyperekplexia
- Specific nucleotide changes impacting glycine reuptake mechanisms
Who Should Consider SLC6A5 Genetic Testing?
Clinical Indications and Symptoms
This test is recommended for individuals presenting with:
- Exaggerated startle responses to unexpected auditory or tactile stimuli
- Generalized muscle stiffness (hypertonia) particularly in infancy
- Sudden falls without loss of consciousness during startle episodes
- Family history of similar neurological symptoms
- Developmental delays associated with startle responses
- Persistent muscle rigidity that improves during sleep
- Neonatal hypertonia and exaggerated Moro reflex
Significant Benefits of Genetic Testing
Undergoing SLC6A5 genetic testing provides numerous advantages:
- Accurate Diagnosis: Confirms hereditary hyperekplexia with molecular precision
- Personalized Treatment: Guides appropriate medication selection including clonazepam therapy
- Family Planning: Enables informed reproductive decisions and genetic counseling
- Prognostic Information: Provides insights into disease progression and management
- Early Intervention: Facilitates timely therapeutic strategies for improved outcomes
- Differential Diagnosis: Distinguishes hyperekplexia from other movement disorders
Understanding Your Test Results
Our comprehensive genetic analysis provides clear, actionable results:
- Positive Result: Indicates presence of pathogenic SLC6A5 mutations confirming hereditary hyperekplexia diagnosis
- Negative Result: Suggests absence of detectable SLC6A5 mutations, though other genetic causes may be considered
- Variant of Uncertain Significance: Identifies genetic changes requiring further clinical correlation
- Carrier Status: Determines inheritance patterns for family risk assessment
All results include detailed interpretation by our board-certified genetic specialists and neurologists, with recommendations for clinical management and follow-up care.
Test Pricing and Availability
| Test Component | Price (USD) |
|---|---|
| SLC6A5 Gene Hyperekplexia NGS Genetic DNA Test | $700 |
| Discount Price | $500 |
Test Specifications
- Turnaround Time: 3 to 4 Weeks
- Sample Type: Blood, Extracted DNA, or One Drop Blood on FTA Card
- Methodology: Next Generation Sequencing (NGS) Technology
- Specialty: Neurology and Genetics
- Department: Genetic Diagnostics
Pre-Test Requirements
To ensure optimal testing outcomes, we require:
- Complete clinical history of the patient
- Genetic counseling session to document family pedigree
- Detailed neurological examination findings
- Informed consent for genetic testing
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, Austin, Jacksonville, Fort Worth, Columbus, San Francisco, and many more. Our network of certified collection centers ensures accessible testing nationwide.
Take Control of Your Neurological Health
Don’t let unexplained startle responses and muscle stiffness impact your quality of life. Our SLC6A5 Gene Hyperekplexia NGS Genetic DNA Test provides the definitive answers you need for proper diagnosis and effective management. With our discounted price of $500 USD, advanced genetic testing is more accessible than ever.
Ready to begin your diagnostic journey? Contact our genetic specialists today at +1(267) 388-9828 or book your appointment online to schedule your comprehensive genetic evaluation.
