PRRT2 Gene Convulsions Familial Infantile with Paroxysmal Choreoathetosis NGS Genetic DNA Test
Understanding PRRT2 Gene-Related Neurological Disorders
The PRRT2 Gene Convulsions Familial Infantile with Paroxysmal Choreoathetosis NGS Genetic DNA Test represents a breakthrough in neurological genetic diagnostics. This specialized test focuses on identifying mutations in the PRRT2 (proline-rich transmembrane protein 2) gene, which plays a crucial role in neurotransmitter release and synaptic function. Mutations in this gene are associated with a spectrum of paroxysmal neurological disorders that typically manifest in infancy or early childhood.
Familial infantile convulsions with paroxysmal choreoathetosis (FICPC) is a rare autosomal dominant disorder characterized by benign infantile seizures followed by the development of paroxysmal movement disorders later in childhood or adolescence. The condition demonstrates variable expressivity and incomplete penetrance, making genetic testing essential for accurate diagnosis and family planning.
What the Test Detects and Measures
This advanced genetic test utilizes next-generation sequencing (NGS) technology to comprehensively analyze the PRRT2 gene for pathogenic variants. The test specifically identifies:
- Point mutations, insertions, and deletions in the PRRT2 gene
- Known pathogenic variants associated with familial infantile convulsions
- Genetic markers for paroxysmal choreoathetosis and related movement disorders
- Inheritance patterns to determine familial risk
- Novel variants that may contribute to the neurological phenotype
The NGS methodology provides high sensitivity and specificity, ensuring comprehensive coverage of the PRRT2 gene coding regions and splice sites. This thorough analysis helps identify both common and rare mutations that may be missed by conventional genetic testing methods.
Who Should Consider This Genetic Test
This test is particularly recommended for individuals presenting with the following symptoms or family history:
Clinical Indications:
- Infants experiencing benign familial infantile seizures
- Children or adolescents with paroxysmal dyskinesias or choreoathetosis
- Individuals with episodic movement disorders triggered by stress, exercise, or sudden movements
- Patients with family history of infantile convulsions or paroxysmal movement disorders
- Unexplained neurological symptoms in early childhood
- Individuals planning pregnancy with family history of PRRT2-related disorders
Symptoms That May Warrant Testing:
- Recurrent, brief episodes of involuntary movements
- Infantile seizures that resolve spontaneously
- Paroxysmal kinesigenic dyskinesias
- Episodic ataxia or dystonia
- Family clustering of movement disorders
- Developmental delays associated with movement abnormalities
Benefits of PRRT2 Genetic Testing
Undergoing PRRT2 genetic testing provides numerous advantages for patients and their families:
Diagnostic Clarity
Provides definitive diagnosis for individuals with ambiguous neurological symptoms, eliminating the diagnostic odyssey that many patients with rare disorders experience. Accurate genetic diagnosis helps differentiate PRRT2-related disorders from other paroxysmal neurological conditions.
Personalized Treatment Planning
Enables neurologists to develop targeted treatment strategies. Many PRRT2-related disorders respond well to specific anticonvulsant medications, and genetic confirmation helps optimize medication selection and dosing.
Family Risk Assessment
Identifies at-risk family members and provides crucial information for genetic counseling. Understanding inheritance patterns helps families make informed reproductive decisions and prepares for potential neurological manifestations in children.
Prognostic Information
Offers insights into disease progression and long-term outcomes. Most PRRT2-related disorders have a benign course with symptoms often improving with age, providing reassurance to affected families.
Research Contribution
Participation in genetic testing contributes to ongoing research on PRRT2-related disorders, helping advance scientific understanding and potentially leading to new therapeutic approaches.
Understanding Your Test Results
Interpreting PRRT2 genetic test results requires careful consideration by qualified genetic specialists:
Positive Result
A positive result indicates the presence of a pathogenic variant in the PRRT2 gene. This confirms the genetic basis of the neurological symptoms and provides definitive diagnosis. Genetic counseling is recommended to discuss implications for the patient and family members.
Negative Result
A negative result suggests that no pathogenic variants were detected in the PRRT2 gene. However, this does not completely rule out a genetic cause, as mutations in other genes or regulatory regions not covered by the test could be responsible for the symptoms.
Variant of Uncertain Significance (VUS)
Some tests may identify genetic changes whose clinical significance is unknown. These variants require further evaluation and may be reclassified as more information becomes available through research.
Clinical Correlation
All genetic test results should be interpreted in the context of clinical symptoms and family history. Your neurologist and genetic counselor will help integrate genetic findings with clinical presentation to develop a comprehensive management plan.
Test Information and Pricing
| Test Component | Details |
|---|---|
| Test Name | PRRT2 Gene Convulsions Familial Infantile with Paroxysmal Choreoathetosis 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 |
| Testing Method | Next-Generation Sequencing (NGS) Technology |
| Specialty | Neurology, Genetics |
Pre-Test Requirements
Before undergoing PRRT2 genetic testing, patients should complete the following:
- Provide comprehensive clinical history detailing neurological symptoms and episodes
- Participate in genetic counseling session to discuss test implications and expectations
- Complete family pedigree chart documenting affected family members
- Review insurance coverage and payment options
- Understand the potential outcomes and their implications
Nationwide Testing Availability
We have diagnostic centers conveniently located across the United States, serving major metropolitan areas including:
- New York City and surrounding tri-state area
- Los Angeles and Southern California region
- Chicago and Midwest locations
- Houston, Dallas, and Texas facilities
- Phoenix, Arizona diagnostic center
- Miami, Florida genetic testing location
- Seattle, Washington area clinics
- Boston, Massachusetts medical centers
Our network of certified genetic counselors and neurologists ensures comprehensive care and support throughout the testing process.
Take the Next Step Toward Genetic Clarity
If you or a family member are experiencing symptoms suggestive of PRRT2-related neurological disorders, don’t delay in seeking genetic answers. Early diagnosis can significantly impact treatment outcomes and provide valuable information for family planning.
Call us today at +1(267) 388-9828 to schedule your genetic counseling session and PRRT2 testing. Our dedicated team is available to answer your questions, discuss insurance coverage, and help you navigate the testing process with confidence and compassion.
Alternatively, you can WhatsApp us at the same number for convenient scheduling and preliminary information. Take control of your neurological health and gain the genetic insights needed for informed medical decisions and peace of mind.
