PGAP3 Gene Hyperphosphatasia with Mental Retardation Syndrome Type 4 NGS Genetic DNA Test
Comprehensive Genetic Testing for Developmental Disorders
The PGAP3 Gene Hyperphosphatasia with Mental Retardation Syndrome Type 4 NGS Genetic DNA Test represents a breakthrough in pediatric genetic diagnostics, offering precise identification of mutations in the PGAP3 gene associated with a rare neurodevelopmental condition. This advanced testing methodology provides families and healthcare providers with definitive answers about complex developmental disorders, enabling targeted interventions and personalized care strategies.
What This Test Measures and Detects
Our state-of-the-art NGS Genetic DNA Test specifically targets the PGAP3 gene, which plays a critical role in glycosylphosphatidylinositol (GPI) anchor biosynthesis. The test identifies:
- Pathogenic variants in the PGAP3 gene responsible for hyperphosphatasia with mental retardation syndrome type 4
- Single nucleotide variants (SNVs) and small insertions/deletions (indels)
- Copy number variations affecting the PGAP3 gene region
- Novel mutations that may not be detected by conventional genetic testing methods
Who Should Consider This Genetic Test
This comprehensive genetic evaluation is recommended for individuals presenting with:
- Unexplained intellectual disability or developmental delays
- Characteristic facial features including prominent forehead, hypertelorism, and down-slanting palpebral fissures
- Elevated serum alkaline phosphatase levels (hyperphosphatasia)
- Family history of similar neurodevelopmental conditions
- Multiple congenital anomalies with unknown etiology
- Suspected inherited metabolic disorders affecting neurological development
Clinical Benefits of PGAP3 Genetic Testing
Undergoing this specialized genetic test provides numerous advantages for patients and their families:
- Accurate Diagnosis: Provides definitive identification of PGAP3-related disorders, eliminating diagnostic uncertainty
- Personalized Treatment Planning: Enables targeted therapeutic interventions based on specific genetic findings
- Genetic Counseling: Offers families comprehensive risk assessment and recurrence probability information
- Early Intervention: Facilitates timely implementation of developmental support services
- Family Planning Guidance: Provides crucial information for future reproductive decisions
- Research Contribution: Advances scientific understanding of rare genetic disorders
Understanding Your Test Results
Our comprehensive genetic counseling services help you interpret your PGAP3 test results:
- Positive Result: Indicates the presence of pathogenic PGAP3 gene mutations, confirming the diagnosis of hyperphosphatasia with mental retardation syndrome type 4
- Negative Result: Suggests that PGAP3 gene mutations are not the cause of the clinical symptoms, guiding further diagnostic evaluation
- Variant of Uncertain Significance (VUS): Identifies genetic changes with unclear clinical implications, requiring additional family studies
- Carrier Status: Determines if individuals carry one copy of a mutated PGAP3 gene without showing symptoms
Test Pricing and Availability
| Test Component | Price (USD) |
|---|---|
| PGAP3 Gene Hyperphosphatasia with Mental Retardation Syndrome Type 4 NGS Genetic DNA Test – Discount Price | $500 |
| PGAP3 Gene Hyperphosphatasia with Mental Retardation Syndrome Type 4 NGS Genetic DNA Test – Regular Price | $700 |
Nationwide Testing Availability
We proudly serve patients across the United States with convenient testing locations in all major metropolitan areas including New York, Los Angeles, Chicago, Houston, Phoenix, Philadelphia, San Antonio, San Diego, Dallas, San Jose, and many more. Our network of certified genetic testing facilities ensures accessible, high-quality diagnostic services for families nationwide.
Take the Next Step Toward Genetic Clarity
Don’t let diagnostic uncertainty delay proper care and treatment. Our PGAP3 Gene Hyperphosphatasia with Mental Retardation Syndrome Type 4 NGS Genetic DNA Test provides the answers you need to make informed healthcare decisions. With a turnaround time of 3-4 weeks and multiple sample collection options including blood, extracted DNA, or blood spots on FTA cards, we make genetic testing convenient and accessible.
Call or WhatsApp us today at +1(267) 388-9828 to schedule your genetic counseling session and book your test. Our expert genetic counselors are available to answer your questions and guide you through the testing process.
