PIK3R2 Gene Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome NGS Genetic DNA Test
Comprehensive Introduction to PIK3R2 Gene Testing
The PIK3R2 Gene Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus (MPPH) Syndrome NGS Genetic DNA Test represents a cutting-edge diagnostic approach for identifying rare neurodevelopmental disorders. This specialized test focuses on the PIK3R2 gene, which plays a critical role in the PI3K-AKT signaling pathway essential for normal brain development and cellular growth regulation. When mutations occur in this gene, they can disrupt normal developmental processes, leading to the characteristic features of MPPH syndrome.
This test is particularly important because MPPH syndrome involves complex interactions between brain structure abnormalities and physical manifestations. The condition affects multiple body systems simultaneously, making accurate genetic diagnosis crucial for proper management and treatment planning. Our advanced NGS technology provides comprehensive analysis of the PIK3R2 gene, ensuring high detection rates for various mutation types.
What the Test Measures and Detects
The PIK3R2 Gene MPPH Syndrome NGS Test specifically targets:
- Point mutations, insertions, and deletions in the PIK3R2 gene
- Variants affecting the regulatory domains of the PI3K protein complex
- Pathogenic changes that disrupt normal brain development signaling
- Genetic alterations associated with abnormal cortical development
- Mutations linked to overgrowth syndromes and neurological abnormalities
Our next-generation sequencing platform provides comprehensive coverage of the entire PIK3R2 gene coding region, including all exons and flanking intronic regions. This ensures maximum sensitivity for detecting both common and rare variants that could contribute to MPPH syndrome presentation.
Who Should Consider This Test
Clinical Indications and Symptoms
This genetic test is recommended for individuals presenting with:
- Megalencephaly (abnormally large brain size) detected through imaging
- Polymicrogyria (excessively folded brain surface) on MRI scans
- Postaxial polydactyly (extra fingers or toes)
- Hydrocephalus (fluid accumulation in the brain)
- Developmental delay or intellectual disability
- Seizures or epilepsy of unknown origin
- Family history of similar neurological conditions
- Unexplained macrocephaly in infancy or childhood
Patient Populations
The test is particularly valuable for:
- Infants and children with unexplained neurological symptoms
- Patients with complex dysmorphic features
- Families seeking genetic counseling for recurrence risk assessment
- Individuals with atypical presentation of brain malformations
- Patients requiring definitive diagnosis for treatment planning
Benefits of Taking the PIK3R2 Gene Test
Undergoing this comprehensive genetic analysis provides numerous advantages:
- Definitive Diagnosis: Confirms or rules out MPPH syndrome with high accuracy
- Personalized Treatment: Enables targeted management strategies based on genetic findings
- Family Planning: Provides crucial information for genetic counseling and reproductive decisions
- Prognostic Insights: Helps predict disease progression and potential complications
- Early Intervention: Facilitates timely implementation of supportive therapies
- Research Contribution: Advances understanding of rare neurodevelopmental disorders
Understanding Your Test Results
Interpretation Guidelines
Our comprehensive genetic report includes:
- Positive Result: Identification of a pathogenic variant in the PIK3R2 gene confirms MPPH syndrome diagnosis
- Negative Result: No detected mutations suggest alternative diagnoses should be considered
- Variant of Uncertain Significance: Requires additional family studies and clinical correlation
- Carrier Status: Important for family members and genetic counseling purposes
Post-Test Guidance
Following test completion, we provide:
- Detailed explanation of results by certified genetic counselors
- Referrals to appropriate specialists for comprehensive care
- Family testing recommendations when indicated
- Long-term monitoring and management strategies
- Access to support resources and patient advocacy groups
Test Pricing and Details
| Test Component | Details |
|---|---|
| Test Name | PIK3R2 Gene Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome NGS Genetic DNA Test |
| Discount Price | $500 USD |
| Regular Price | $700 USD |
| Turnaround Time | 3 to 4 Weeks |
| Sample Type | Blood or Extracted DNA or One drop Blood on FTA Card |
| Pre-test Requirements | Clinical History and Genetic Counseling Session |
Nationwide Testing Availability
We have conveniently located branches across the United States, serving patients in all major metropolitan areas including New York, Los Angeles, Chicago, Houston, Phoenix, Philadelphia, San Antonio, San Diego, Dallas, San Jose, and many other cities. Our state-of-the-art facilities ensure consistent, high-quality testing standards nationwide.
Take the Next Step Toward Genetic Clarity
Don’t let uncertainty about neurological symptoms delay proper diagnosis and treatment. Our expert team of genetic counselors and medical professionals is ready to guide you through the testing process and provide comprehensive support.
Call or WhatsApp us today at +1(267) 388-9828 to schedule your genetic counseling session and book the PIK3R2 Gene MPPH Syndrome NGS Test. Take control of your genetic health with confidence and clarity.
