ATP1A2 Gene Alternating Hemiplegia of Childhood Type 1 NGS Genetic DNA Test
Comprehensive Genetic Testing for Childhood Neurological Disorders
The ATP1A2 Gene Alternating Hemiplegia of Childhood Type 1 NGS Genetic DNA Test represents a breakthrough in pediatric neurological diagnostics. This advanced genetic test specifically targets mutations in the ATP1A2 gene, which encodes the alpha-2 subunit of the Na+/K+ ATPase enzyme. This crucial enzyme maintains proper ion balance in nerve cells, and mutations can lead to the debilitating symptoms characteristic of Alternating Hemiplegia of Childhood Type 1 (AHC1).
What This Test Measures and Detects
Our comprehensive NGS-based genetic test analyzes the entire coding region of the ATP1A2 gene to identify pathogenic variants responsible for AHC1. The test specifically detects:
- Missense mutations affecting protein function
- Nonsense mutations causing premature stop codons
- Frameshift mutations disrupting gene reading frames
- Splice site variants affecting RNA processing
- Small insertions and deletions altering gene structure
Using cutting-edge Next-Generation Sequencing technology, we achieve exceptional accuracy in variant detection, providing reliable results for clinical decision-making.
Who Should Consider This Genetic Test
This test is recommended for children and individuals presenting with symptoms suggestive of Alternating Hemiplegia of Childhood Type 1, including:
- Recurrent episodes of hemiplegia (one-sided paralysis) that alternate between body sides
- Paroxysmal eye movement abnormalities including nystagmus
- Developmental delays and cognitive impairment
- Epileptic seizures and movement disorders
- Autonomic nervous system dysfunction
- Family history of similar neurological symptoms
- Unexplained episodic neurological symptoms in childhood
Significant Benefits of Early Genetic Diagnosis
Obtaining a definitive genetic diagnosis through this test provides numerous advantages for patients and families:
- Accurate Diagnosis: Confirms AHC1 diagnosis, eliminating diagnostic uncertainty
- Personalized Treatment: Enables targeted management strategies for symptom control
- Family Planning: Provides crucial information for genetic counseling and reproductive decisions
- Prognostic Insights: Helps predict disease progression and potential complications
- Research Opportunities: Connects families with clinical trials and emerging therapies
- Educational Support: Facilitates appropriate educational accommodations and support services
Understanding Your Test Results
Our comprehensive genetic report provides clear interpretation of your results with clinical guidance:
- Positive Result: Indicates a pathogenic mutation in the ATP1A2 gene, confirming AHC1 diagnosis
- Negative Result: Suggests ATP1A2 mutations are not the cause of symptoms, though other genetic causes may be considered
- Variant of Uncertain Significance: Identifies genetic changes requiring further clinical correlation
- Carrier Status: Determines if individuals carry one copy of a mutated gene
All results are accompanied by detailed explanations and recommendations for follow-up care with neurologists and genetic specialists.
Test Pricing and Availability
| Test Feature | Details |
|---|---|
| Test Name | ATP1A2 Gene Alternating Hemiplegia of Childhood 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 |
Nationwide Testing Availability
We have diagnostic centers conveniently located throughout the United States, including major metropolitan areas such as 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 coordination.
Take the Next Step Toward Diagnosis
If you suspect Alternating Hemiplegia of Childhood Type 1 in your child or family member, don’t delay in seeking genetic clarification. Our experienced team is ready to guide you through the testing process and provide the answers you need for better healthcare decisions.
Call or WhatsApp us today at +1(267) 388-9828 to schedule your genetic counseling session and book the ATP1A2 gene test. Early diagnosis can make a significant difference in managing this complex neurological condition.
