ALDH7A1 Gene Pyridoxine-Dependent Epilepsy NGS Genetic DNA Test
Comprehensive Genetic Testing for Treatment-Resistant Epilepsy
The ALDH7A1 Gene Pyridoxine-Dependent Epilepsy NGS Genetic DNA Test represents a breakthrough in neurological genetic diagnostics, specifically designed to identify mutations associated with pyridoxine-dependent epilepsy (PDE). This rare autosomal recessive disorder affects the brain’s ability to properly utilize vitamin B6, leading to severe, treatment-resistant seizures that typically begin in infancy. Early diagnosis through this advanced genetic testing can be life-changing, as it enables targeted treatment with pyridoxine supplementation that can completely control seizures and prevent long-term neurological complications.
What This Test Measures and Detects
Our comprehensive NGS-based genetic test specifically analyzes the ALDH7A1 gene, which encodes the enzyme antiquitin involved in lysine metabolism. The test detects:
- Pathogenic variants and mutations in the ALDH7A1 gene
- Single nucleotide polymorphisms (SNPs) associated with pyridoxine-dependent epilepsy
- Copy number variations affecting gene function
- Novel mutations that may impact enzyme activity
- Genetic markers that influence treatment response
Using Next-Generation Sequencing technology, we provide complete coverage of the ALDH7A1 gene with high accuracy and sensitivity, ensuring reliable results for clinical decision-making.
Who Should Consider This Test
This genetic test is recommended for individuals presenting with:
- Newborns and infants with unexplained, intractable seizures
- Patients with seizures that respond dramatically to pyridoxine treatment
- Family history of pyridoxine-dependent epilepsy or unexplained infantile seizures
- Children with developmental delay and seizure disorders
- Patients with elevated pipecolic acid or α-aminoadipic semialdehyde levels
- Siblings of diagnosed PDE patients for carrier screening
- Prenatal testing for families with known ALDH7A1 mutations
Key Benefits of ALDH7A1 Genetic Testing
- Early Diagnosis: Enables prompt initiation of pyridoxine therapy to control seizures
- Personalized Treatment: Guides appropriate vitamin B6 dosing and monitoring
- Family Planning: Provides crucial information for genetic counseling and reproductive decisions
- Prevention of Complications: Helps prevent long-term neurological damage and developmental delays
- Accurate Prognosis: Offers insights into disease progression and management strategies
- Cost-Effective Care: Reduces unnecessary medical procedures and hospitalizations
Understanding Your Test Results
Our comprehensive genetic report provides clear, actionable information:
- Positive Result: Indicates pathogenic mutations in ALDH7A1 gene, confirming pyridoxine-dependent epilepsy diagnosis
- Negative Result: No disease-causing variants detected, though clinical correlation is essential
- Variant of Uncertain Significance: Genetic changes with unclear clinical impact requiring further evaluation
- Carrier Status: Identifies individuals with one mutated copy who may pass the condition to offspring
All results include detailed interpretation by our board-certified genetic specialists and recommendations for clinical management. Genetic counseling is provided to help families understand the implications of test results.
Test Pricing and Details
| Test Feature | Details |
|---|---|
| Test Name | ALDH7A1 Gene Pyridoxine-Dependent Epilepsy 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 |
| Testing Method | Next-Generation Sequencing (NGS) Technology |
| Specialty | Neurology and Genetics |
Pre-Test Requirements
Before scheduling your test, please ensure:
- Complete clinical history of the patient
- Genetic counseling session to create a detailed family pedigree
- Documentation of seizure characteristics and treatment responses
- Previous neurological evaluations and test results
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, San Jose, and many more. Our network ensures accessible genetic testing services for patients nationwide.
Take Control of Your Neurological Health Today
Don’t let unexplained seizures compromise quality of life. Our ALDH7A1 genetic testing provides the answers you need for effective treatment planning. Early diagnosis can transform outcomes for patients with pyridoxine-dependent epilepsy.
Call or WhatsApp us today at +1(267) 388-9828 to schedule your genetic test or speak with our genetic counseling team. Take the first step toward accurate diagnosis and targeted treatment for neurological conditions.
