SLC5A7 Gene Myasthenic Syndrome Congenital Type 20 Presynaptic NGS Genetic DNA Test
Comprehensive Genetic Testing for Neuromuscular Disorders
The SLC5A7 Gene Myasthenic Syndrome Congenital Type 20 Presynaptic NGS Genetic DNA Test represents a breakthrough in neurological genetic diagnostics. This advanced test specifically targets mutations in the SLC5A7 gene, which encodes the high-affinity choline transporter 1 (CHT1) protein essential for acetylcholine synthesis at neuromuscular junctions. Congenital myasthenic syndromes are rare inherited disorders affecting nerve-to-muscle communication, and type 20 specifically involves presynaptic defects that disrupt neurotransmitter release.
What This Test Detects and Measures
Our sophisticated NGS-based genetic analysis examines the complete coding region of the SLC5A7 gene to identify:
- Point mutations, insertions, and deletions affecting CHT1 function
- Genetic variants associated with impaired acetylcholine synthesis
- Hereditary patterns of congenital myasthenic syndrome type 20
- Presynaptic neuromuscular junction abnormalities
- Autosomal recessive inheritance patterns
Who Should Consider This Genetic Test
This specialized genetic testing is recommended for individuals presenting with:
- Progressive muscle weakness beginning in infancy or early childhood
- Fatigue with physical activity and exercise intolerance
- Respiratory difficulties, especially during sleep
- Feeding problems in infants and swallowing difficulties
- Family history of neuromuscular disorders
- Unexplained ptosis (drooping eyelids) or ophthalmoplegia
- Delayed motor milestones in children
- Suspected congenital myasthenic syndrome based on clinical evaluation
Significant Benefits of Genetic Testing
Undergoing the SLC5A7 genetic test provides numerous advantages:
- Definitive Diagnosis: Confirms or rules out congenital myasthenic syndrome type 20
- Personalized Treatment: Enables targeted therapeutic approaches specific to presynaptic defects
- Family Planning: Provides crucial information for genetic counseling and reproductive decisions
- Early Intervention: Facilitates timely management to prevent complications
- Prognostic Information: Helps predict disease progression and potential complications
- Research Contribution: Advances understanding of rare neuromuscular disorders
Understanding Your Test Results
Our comprehensive genetic counseling services help you interpret your results:
- Positive Result: Indicates identified SLC5A7 gene mutations confirming congenital myasthenic syndrome type 20 diagnosis
- Negative Result: Suggests absence of detectable SLC5A7 mutations, though other genetic causes may need investigation
- Variant of Uncertain Significance: Requires additional family studies and clinical correlation
- Carrier Status: Identifies individuals with single gene copy mutations who may pass the condition to offspring
Test Pricing and Availability
| Test Component | Price (USD) |
|---|---|
| Discount Price | $500 |
| Regular Price | $700 |
Nationwide Testing Accessibility
GGC DNA maintains comprehensive testing facilities across the United States, with specialized centers in major metropolitan areas including New York, Los Angeles, Chicago, Houston, Phoenix, Philadelphia, San Antonio, San Diego, Dallas, San Jose, and all principal cities. Our network ensures convenient access to advanced genetic testing regardless of your location.
Take Control of Your Neurological Health
Early genetic diagnosis of congenital myasthenic syndromes can significantly impact treatment outcomes and quality of life. Our team of certified genetic counselors and neurological specialists provide comprehensive support throughout the testing process. Don’t let uncertainty about neuromuscular symptoms affect your daily life – take the first step toward definitive diagnosis and personalized care.
Schedule your genetic consultation today by calling +1(267) 388-9828 or book your SLC5A7 genetic test online. Our compassionate team is ready to guide you through every step of the genetic testing journey.
