PRICKLE2 Gene Epilepsy Progressive Myoclonic Type 5 NGS Genetic DNA Test
Comprehensive Genetic Testing for Progressive Myoclonic Epilepsy
The PRICKLE2 Gene Epilepsy Progressive Myoclonic Type 5 NGS Genetic DNA Test represents a breakthrough in neurological genetic diagnostics. This specialized test utilizes cutting-edge Next-Generation Sequencing (NGS) technology to analyze the PRICKLE2 gene, which plays a critical role in neuronal development and function. Progressive myoclonic epilepsy type 5 is a rare inherited neurological disorder characterized by progressive muscle jerks (myoclonus), seizures, and cognitive decline. Early and accurate genetic diagnosis is essential for proper management and treatment planning.
What This Test Measures and Detects
This comprehensive genetic test specifically targets mutations in the PRICKLE2 gene, which encodes a protein involved in neuronal migration and synaptic function. The test detects:
- Point mutations and single nucleotide variants in the PRICKLE2 gene
- Small insertions and deletions affecting gene function
- Copy number variations that may impact gene expression
- Pathogenic variants associated with progressive myoclonic epilepsy type 5
Using advanced NGS technology, the test provides high-resolution analysis of the entire PRICKLE2 gene coding region, ensuring comprehensive mutation detection with exceptional accuracy.
Who Should Consider This Genetic Test
This test is recommended for individuals presenting with symptoms suggestive of progressive myoclonic epilepsy type 5, including:
- Progressive myoclonic jerks or muscle twitches
- Recurrent epileptic seizures that worsen over time
- Ataxia (difficulty with coordination and balance)
- Cognitive decline or developmental regression
- Family history of similar neurological symptoms
- Unexplained progressive neurological deterioration
- Patients with suspected inherited epilepsy syndromes
Clinical Benefits of Genetic Testing
Undergoing the PRICKLE2 gene test provides numerous clinical advantages:
- Accurate Diagnosis: Confirms or rules out progressive myoclonic epilepsy type 5
- Personalized Treatment: Enables targeted anti-epileptic medication selection
- Genetic Counseling: Provides essential information for family planning decisions
- Prognostic Information: Helps predict disease progression and outcomes
- Early Intervention: Facilitates timely management to slow disease progression
- Family Screening: Identifies at-risk relatives for preventive monitoring
Understanding Your Test Results
Your genetic test results will be carefully interpreted by our team of certified genetic counselors and neurologists:
- Positive Result: Indicates the presence of a pathogenic PRICKLE2 mutation. This confirms the diagnosis of progressive myoclonic epilepsy type 5 and enables targeted treatment planning.
- Negative Result: Suggests that no known pathogenic mutations were detected in the PRICKLE2 gene. However, other genetic or non-genetic causes should still be considered.
- Variant of Uncertain Significance: Some genetic changes may have unknown clinical implications. These require further evaluation and family studies.
All results include comprehensive genetic counseling to ensure you fully understand the implications and next steps.
Test Pricing and Sample Requirements
| Test Feature | Details |
|---|---|
| Test Name | PRICKLE2 Gene Epilepsy Progressive Myoclonic Type 5 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 |
Pre-Test Requirements
Before scheduling your test, please ensure:
- Complete clinical history documentation of the patient
- Genetic counseling session to create a detailed family pedigree chart
- Documentation of family members affected with similar neurological symptoms
- Referral from a neurologist or genetic specialist (recommended)
Nationwide Testing Availability
We have testing facilities conveniently located across 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 collection centers ensures accessible testing regardless of your location.
Take Control of Your Neurological Health Today
Don’t let uncertainty about your neurological symptoms delay proper diagnosis and treatment. The PRICKLE2 Gene Epilepsy Progressive Myoclonic Type 5 NGS Genetic DNA Test provides the clarity needed to make informed healthcare decisions. Our team of neurological genetics specialists is ready to support you through every step of the testing process.
Call or WhatsApp us today at +1(267) 388-9828 to schedule your genetic test consultation and take the first step toward accurate diagnosis and personalized treatment.
Early genetic testing can significantly impact treatment outcomes and quality of life for individuals with progressive myoclonic epilepsy. Contact us now to book your test and receive comprehensive genetic counseling from our expert team.
