CERS1 Gene Progressive Myoclonus Epilepsy Type 8 NGS Genetic DNA Test
Comprehensive Genetic Testing for Rare Neurological Disorders
The CERS1 Gene Progressive Myoclonus Epilepsy Type 8 NGS Genetic DNA Test represents a breakthrough in neurological genetic diagnostics. This advanced test specifically targets mutations in the CERS1 gene, which encodes ceramide synthase 1—a crucial enzyme involved in sphingolipid metabolism. Disruptions in this gene lead to progressive myoclonus epilepsy type 8, a rare but devastating neurological condition characterized by progressive neurological deterioration and debilitating seizures.
What This Test Measures and Detects
Our comprehensive NGS-based analysis examines the entire coding region of the CERS1 gene to identify:
- Pathogenic variants and mutations in the CERS1 gene
- Single nucleotide polymorphisms (SNPs) associated with disease progression
- Copy number variations affecting gene function
- Novel mutations that may not be documented in existing databases
- Inheritance patterns for family planning purposes
Who Should Consider This Test
This genetic test is particularly recommended for individuals experiencing:
- Unexplained myoclonic seizures or jerking movements
- Progressive neurological decline with onset in childhood or adolescence
- Family history of similar neurological symptoms
- Diagnostic uncertainty despite extensive neurological evaluation
- Unexplained ataxia, cognitive decline, or movement disorders
- Suspected genetic epilepsy syndromes unresponsive to conventional treatments
Key Benefits of Genetic Testing
Undergoing the CERS1 Gene Progressive Myoclonus Epilepsy Type 8 test provides numerous advantages:
- Accurate Diagnosis: Eliminates diagnostic uncertainty and provides definitive answers
- Personalized Treatment: Enables targeted therapeutic approaches based on genetic findings
- Family Planning: Provides crucial information for genetic counseling and reproductive decisions
- Proactive Management: Allows for early intervention and symptom management strategies
- Research Contribution: Helps advance scientific understanding of rare neurological disorders
Understanding Your Test Results
Our comprehensive genetic counseling services help you interpret your results effectively:
- Positive Result: Indicates the presence of a pathogenic CERS1 mutation, confirming the diagnosis of progressive myoclonus epilepsy type 8
- Negative Result: Suggests that CERS1 mutations are not the cause of symptoms, guiding further diagnostic evaluation
- Variant of Uncertain Significance: Identifies genetic changes whose clinical significance requires further investigation
- Carrier Status: Determines if you carry a single copy of a mutation that could be passed to offspring
Test Pricing and Details
| Test Feature | Details |
|---|---|
| Test Name | CERS1 Gene Progressive Myoclonus Epilepsy Type 8 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 |
Pre-Test Requirements
To ensure optimal testing outcomes, we require:
- Complete clinical history of the patient undergoing testing
- Genetic counseling session to create a detailed family pedigree chart
- Documentation of affected family members with similar neurological symptoms
- Comprehensive neurological evaluation records
Nationwide Accessibility
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, and San Jose. Our network of certified genetic counselors and neurological specialists ensures you receive comprehensive care regardless of your location.
Take the Next Step Toward Clarity
Don’t let diagnostic uncertainty stand in the way of proper treatment and management. Our team of neurological genetics specialists is ready to help you navigate this complex condition. Contact us today to schedule your genetic counseling session and testing appointment.
Call or WhatsApp: +1(267) 388-9828 to book your CERS1 Gene Progressive Myoclonus Epilepsy Type 8 NGS Genetic DNA Test today and take control of your neurological health journey.
