PRICKLE1 Gene Progressive Myoclonus Epilepsy Type 1A NGS Genetic DNA Test
Understanding Progressive Myoclonus Epilepsy Type 1A
Progressive myoclonus epilepsy type 1A is a rare, inherited neurological disorder characterized by myoclonic seizures, progressive neurological decline, and often cognitive impairment. This condition is caused by mutations in the PRICKLE1 gene, which plays a crucial role in neuronal development and function. Our advanced NGS genetic DNA test provides comprehensive analysis of this gene, offering critical insights for diagnosis and management.
What This Test Measures and Detects
The PRICKLE1 Gene Progressive Myoclonus Epilepsy Type 1A NGS Genetic DNA Test utilizes state-of-the-art next-generation sequencing technology to:
- Identify pathogenic variants in the PRICKLE1 gene
- Detect single nucleotide variants, insertions, and deletions
- Analyze the entire coding region of the PRICKLE1 gene
- Provide comprehensive coverage of known mutation hotspots
- Offer high sensitivity and specificity for accurate diagnosis
Who Should Consider This Test?
Clinical Indications and Symptoms
This genetic test is recommended for individuals experiencing:
- Myoclonic seizures or jerking movements
- Progressive neurological deterioration
- Family history of progressive myoclonus epilepsy
- Unexplained neurological symptoms with seizure activity
- Developmental regression in childhood or adolescence
- Ataxia or coordination difficulties
- Cognitive decline associated with seizure disorders
Benefits of Genetic Testing
Undergoing the PRICKLE1 gene test provides numerous advantages:
- Accurate Diagnosis: Confirm or rule out progressive myoclonus epilepsy type 1A
- Personalized Treatment: Guide medication selection and management strategies
- Prognostic Information: Understand disease progression and expected outcomes
- Family Planning: Make informed decisions about genetic risks to offspring
- Early Intervention: Implement appropriate therapies and support services
- Genetic Counseling: Provide comprehensive risk assessment for family members
Understanding Your Test Results
Our genetic counselors and neurologists will help you interpret your results:
- Positive Result: Indicates the presence of a pathogenic PRICKLE1 mutation, confirming the diagnosis of progressive myoclonus epilepsy type 1A
- Negative Result: Suggests that PRICKLE1 mutations were not detected, though other genetic causes may need investigation
- Variant of Uncertain Significance: Identifies a genetic change whose clinical significance is currently unknown, requiring ongoing monitoring
- Carrier Status: Determines if you carry one copy of a mutated gene, which may have implications for family planning
Test Information and Pricing
| Test Parameter | Details |
|---|---|
| Test Name | PRICKLE1 Gene Progressive Myoclonus Epilepsy Type 1A NGS Genetic DNA Test |
| Regular Price | $700 USD |
| Discount Price | $500 USD |
| Turnaround Time | 3 to 4 Weeks |
| Sample Type | Blood, Extracted DNA, or One Drop Blood on FTA Card |
| Methodology | Next-Generation Sequencing (NGS) Technology |
| Specialty | Neurology and Genetics |
Pre-Test Requirements
Before scheduling your test, please ensure:
- Complete clinical history documentation
- Genetic counseling session to create a family pedigree chart
- Discussion of testing implications with healthcare provider
- Understanding of potential results and their meaning
Nationwide Accessibility
We have testing facilities conveniently located across the United States, including major metropolitan areas such as New York, Los Angeles, Chicago, Houston, Phoenix, and Philadelphia. Our network of certified genetic counselors and neurologists ensures you receive comprehensive care and support throughout the testing process.
Take the Next Step Toward Clarity
If you or a loved one are experiencing symptoms suggestive of progressive myoclonus epilepsy, don’t wait to get answers. Our PRICKLE1 gene test provides the clarity needed for proper diagnosis and management. Contact us today to schedule your genetic counseling session and testing.
Call or WhatsApp us at +1(267) 388-9828 to book your PRICKLE1 Gene Progressive Myoclonus Epilepsy Type 1A NGS Genetic DNA Test today and take control of your neurological health.
