SCN4A Gene Hyperkalemic Periodic Paralysis NGS Genetic DNA Test
Comprehensive Genetic Testing for Inherited Muscle Disorders
The SCN4A Gene Hyperkalemic Periodic Paralysis NGS Genetic DNA Test represents a breakthrough in diagnostic precision for individuals affected by unexplained muscle weakness and paralysis episodes. This advanced genetic analysis specifically targets mutations in the SCN4A gene, which encodes the alpha subunit of the skeletal muscle sodium channel. When this channel malfunctions due to genetic variations, it can lead to hyperkalemic periodic paralysis—a rare inherited condition characterized by sudden, temporary attacks of muscle weakness or complete paralysis.
What Does This Test Measure and Detect?
Our comprehensive NGS (Next-Generation Sequencing) genetic test meticulously examines the entire SCN4A gene to identify pathogenic variants that disrupt normal sodium channel function. The test specifically detects:
- Point mutations affecting sodium channel gating mechanisms
- Missense mutations altering protein structure and function
- Deletion and insertion variants impacting channel expression
- Known pathogenic variants associated with hyperkalemic periodic paralysis
- Novel genetic changes with potential clinical significance
The SCN4A gene plays a critical role in muscle contraction by regulating sodium ion flow across muscle cell membranes. Mutations in this gene cause abnormal sodium channel behavior, leading to prolonged depolarization and subsequent muscle membrane inexcitability during high potassium conditions.
Who Should Consider This Genetic Test?
This specialized genetic test is recommended for individuals experiencing:
- Recurrent episodes of muscle weakness or paralysis
- Muscle stiffness following exercise or physical activity
- Family history of periodic paralysis or similar neuromuscular conditions
- Unexplained muscle symptoms triggered by high-potassium foods
- Diagnostic uncertainty regarding muscle weakness episodes
- Planning for pregnancy with family history of neuromuscular disorders
Clinical indications often include episodes lasting minutes to hours, typically beginning in childhood or adolescence, with potential triggers including rest after exercise, potassium-rich foods, stress, or cold exposure.
Significant Benefits of Genetic Testing
Undergoing SCN4A genetic testing provides numerous advantages for patients and healthcare providers:
- Accurate Diagnosis: Confirms or rules out hyperkalemic periodic paralysis with molecular precision
- Personalized Treatment: Enables targeted therapeutic approaches based on specific genetic findings
- Family Planning Guidance: Provides essential information for genetic counseling and reproductive decisions
- Symptom Management: Helps develop effective strategies to prevent and manage paralysis episodes
- Prognostic Information: Offers insights into disease progression and potential complications
- Family Member Screening: Identifies at-risk relatives who may benefit from early intervention
Understanding Your Test Results
Our comprehensive genetic analysis provides clear, actionable results with detailed interpretation:
- Positive Result: Identifies a pathogenic variant in the SCN4A gene, confirming the diagnosis of hyperkalemic periodic paralysis. This result enables targeted treatment strategies and family member testing.
- Negative Result: No pathogenic variants detected in the SCN4A gene, suggesting alternative causes for symptoms that should be investigated through additional diagnostic approaches.
- Variant of Uncertain Significance: Identifies genetic changes with unclear clinical implications, requiring ongoing monitoring and potential family studies for clarification.
All results include detailed clinical correlations and recommendations for follow-up care. Our genetic counselors provide comprehensive post-test counseling to ensure complete understanding of results and their implications.
Test Pricing and Availability
| Test Component | Price (USD) |
|---|---|
| SCN4A Gene Hyperkalemic Periodic Paralysis NGS Genetic DNA Test – Discount Price | $500 |
| SCN4A Gene Hyperkalemic Periodic Paralysis NGS Genetic DNA Test – Regular Price | $700 |
Nationwide Testing Availability
We proudly offer comprehensive genetic testing services across the United States, with convenient 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 for patients nationwide.
Take Control of Your Neurological Health Today
Don’t let unexplained muscle weakness and paralysis episodes disrupt your life. Our SCN4A genetic testing provides the clarity needed for accurate diagnosis and effective management. With results available in 3-4 weeks and multiple sample collection options including blood, extracted DNA, or FTA card blood spots, getting tested has never been more convenient.
Call +1(267) 388-9828 now to schedule your genetic test or speak with our genetic counseling team. Take the first step toward understanding your condition and developing a personalized treatment plan.
Remember to bring your clinical history and be prepared for a genetic counseling session to create a comprehensive family pedigree chart, ensuring the most accurate interpretation of your results.
