PI4KA Gene Polymicrogyria Perisylvian with Cerebellar Hypoplasia and Arthrogryposis NGS Genetic DNA Test
Comprehensive Genetic Testing for Neurological Disorders
The PI4KA Gene Polymicrogyria Perisylvian with Cerebellar Hypoplasia and Arthrogryposis NGS Genetic DNA Test represents a breakthrough in neurological genetic diagnostics. This advanced test specifically targets mutations in the PI4KA gene, which plays a critical role in brain development and neuronal function. Understanding these genetic variations is essential for accurate diagnosis, prognosis, and personalized treatment planning for affected individuals and their families.
What This Test Measures and Detects
Our state-of-the-art NGS (Next-Generation Sequencing) technology comprehensively analyzes the PI4KA gene to identify:
- Pathogenic variants causing polymicrogyria (abnormal brain folding)
- Mutations leading to cerebellar hypoplasia (underdeveloped cerebellum)
- Genetic abnormalities associated with arthrogryposis (joint contractures)
- Single nucleotide variants, insertions, deletions, and copy number variations
- Inheritance patterns for family planning decisions
Who Should Consider This Test
This genetic test is recommended for individuals presenting with:
- Developmental delays and intellectual disability
- Seizures or epilepsy of unknown origin
- Abnormal brain imaging showing polymicrogyria
- Cerebellar hypoplasia detected on MRI scans
- Joint contractures or limited mobility (arthrogryposis)
- Family history of similar neurological conditions
- Unexplained neurological symptoms in infancy or childhood
Significant Benefits of Genetic Testing
Undergoing the PI4KA gene test provides numerous advantages:
- Accurate Diagnosis: Confirms or rules out specific genetic causes of neurological symptoms
- Personalized Treatment: Enables targeted therapeutic approaches based on genetic findings
- Family Planning: Provides crucial information for reproductive decisions and genetic counseling
- Prognostic Insights: Helps predict disease progression and potential complications
- Early Intervention: Facilitates timely therapeutic interventions for better outcomes
Understanding Your Test Results
Our comprehensive genetic counseling services help you interpret your results:
- Positive Result: Indicates the presence of pathogenic PI4KA gene mutations. Our genetic counselors will explain the implications for treatment and family planning.
- Negative Result: Suggests no detectable mutations in the PI4KA gene, though other genetic causes may need investigation.
- Variant of Uncertain Significance: Some genetic changes require additional research. We provide ongoing support and updates.
Test Pricing and Details
| Test Feature | Details |
|---|---|
| Test Name | PI4KA Gene Polymicrogyria Perisylvian with Cerebellar Hypoplasia and Arthrogryposis 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 |
Nationwide Testing Availability
We proudly serve patients across the United States with convenient testing locations in all major cities including New York, Los Angeles, Chicago, Houston, Phoenix, Philadelphia, San Antonio, San Diego, Dallas, San Jose, and many more. Our network of certified genetic counselors and medical professionals ensures you receive the highest quality care regardless of your location.
Take the Next Step Toward Genetic Clarity
Don’t let uncertainty about neurological symptoms affect your quality of life. Our PI4KA gene test provides the answers you need for informed medical decisions and peace of mind. Contact our genetic specialists today to schedule your test and begin your journey toward genetic understanding.
Call or WhatsApp: +1(267) 388-9828 to book your appointment or speak with our genetic counseling team. We’re here to support you through every step of the testing process.
