AKT3 Gene Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome Type 2 NGS Genetic DNA Test
Comprehensive Genetic Testing for MPPH Syndrome Type 2
The AKT3 Gene Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus (MPPH) Syndrome Type 2 NGS Genetic DNA Test represents a breakthrough in pediatric genetic diagnostics. This sophisticated test utilizes next-generation sequencing technology to identify mutations in the AKT3 gene, which plays a crucial role in brain development and cellular growth regulation. MPPH syndrome type 2 is a rare neurodevelopmental disorder characterized by distinct physical and neurological features that require precise genetic confirmation for accurate diagnosis and management.
What This Test Measures and Detects
This advanced genetic test specifically targets the AKT3 gene, analyzing its complete coding regions and adjacent intronic boundaries to identify pathogenic variants. The test detects:
- Point mutations, insertions, and deletions in the AKT3 gene
- Variants associated with abnormal PI3K-AKT-mTOR signaling pathway
- Genetic changes responsible for brain overgrowth and malformations
- Mutations linked to polymicrogyria (abnormal brain folding)
- Genetic markers for megalencephaly (enlarged brain)
- Variants causing hydrocephalus and polydactyly
Who Should Consider This Test
This genetic test is recommended for individuals presenting with the following symptoms and clinical indications:
- Infants and children with macrocephaly or megalencephaly
- Individuals with developmental delays and intellectual disability
- Patients diagnosed with polymicrogyria on brain imaging
- Children exhibiting extra fingers or toes (polydactyly)
- Individuals with hydrocephalus requiring shunt placement
- Patients with seizures or epilepsy of unknown origin
- Families with history of similar neurological conditions
- Individuals with dysmorphic facial features and growth abnormalities
Benefits of Taking the AKT3 Genetic Test
Undergoing this comprehensive genetic analysis provides numerous advantages for patients and families:
- Accurate Diagnosis: Confirms MPPH syndrome type 2 with genetic certainty
- Personalized Treatment: Enables targeted therapeutic interventions
- Family Planning: Provides crucial information for genetic counseling
- Prognostic Insights: Helps predict disease progression and outcomes
- Early Intervention: Facilitates timely developmental support
- Medical Management: Guides appropriate neurological care
- Research Contribution: Advances understanding of rare genetic disorders
Understanding Your Test Results
Our comprehensive genetic report provides clear interpretation of your results:
- Positive Result: Indicates the presence of a pathogenic AKT3 mutation, confirming MPPH syndrome type 2 diagnosis
- Negative Result: Suggests no detectable AKT3 mutation, though other genetic causes should be considered
- Variant of Uncertain Significance: Identifies genetic changes requiring further clinical correlation
- Carrier Status: Determines if individuals carry the mutation without showing symptoms
All results are accompanied by detailed explanations and recommendations for follow-up care with our genetic counseling team.
Test Pricing and Details
| Test Component | Price (USD) |
|---|---|
| Discount Price | $500 |
| Regular Price | $700 |
| Turnaround Time | 3-4 Weeks |
| Sample Type | Blood |
Nationwide Testing Availability
We have branches across the United States, making genetic testing accessible to patients 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 consistent, high-quality care regardless of location.
Book Your Genetic Test Today
Take the first step toward accurate diagnosis and personalized care. Our team of genetic specialists is ready to guide you through the testing process and provide comprehensive support. Contact us today to schedule your appointment or speak with a genetic counselor.
Call or WhatsApp: +1(267) 388-9828
Don’t wait to get the answers you need for better health outcomes. Our dedicated team is committed to providing exceptional genetic testing services with compassion and expertise.
