PGAP2 Gene Hyperphosphatasia with Mental Retardation Syndrome Type 3 NGS Genetic DNA Test
Understanding PGAP2 Gene Hyperphosphatasia with Mental Retardation Syndrome
PGAP2 Gene Hyperphosphatasia with Mental Retardation Syndrome Type 3 is a rare genetic disorder characterized by developmental delays, intellectual disability, and distinctive facial features. This condition results from mutations in the PGAP2 gene, which plays a crucial role in glycosylphosphatidylinositol (GPI) anchor biosynthesis. The PGAP2 gene test represents a significant advancement in genetic diagnostics, providing families and healthcare providers with definitive answers about this complex neurodevelopmental condition.
What Does This Test Detect?
Our comprehensive NGS Genetic DNA Test specifically targets and analyzes the PGAP2 gene for pathogenic variants associated with Hyperphosphatasia with Mental Retardation Syndrome Type 3. The test identifies:
- Point mutations and small insertions/deletions in the PGAP2 gene
- Pathogenic variants affecting GPI anchor biosynthesis
- Genetic changes responsible for developmental abnormalities
- Inheritance patterns for family planning purposes
Advanced NGS Technology
Utilizing state-of-the-art Next-Generation Sequencing technology, our test provides comprehensive coverage of the PGAP2 gene with exceptional accuracy and sensitivity. This advanced methodology ensures reliable detection of even rare genetic variants that might be missed by conventional testing methods.
Who Should Consider This Test?
This genetic test is recommended for individuals presenting with symptoms suggestive of PGAP2-related disorders, including:
- Children with unexplained developmental delays
- Individuals with intellectual disability of unknown cause
- Patients with characteristic facial dysmorphism
- Those with elevated alkaline phosphatase levels
- Individuals with family history of similar symptoms
- Patients with suspected genetic syndromes affecting neurodevelopment
Clinical Indications
The test is particularly valuable for pediatric patients showing multiple symptoms including delayed motor milestones, speech impairment, cognitive challenges, and distinctive physical features that may indicate PGAP2 gene involvement.
Benefits of PGAP2 Genetic Testing
Undergoing PGAP2 gene testing provides numerous advantages for patients and families:
- Accurate Diagnosis: Confirms or rules out PGAP2-related disorders with high precision
- Personalized Treatment: Enables targeted interventions and management strategies
- Family Planning: Provides crucial information for genetic counseling and reproductive decisions
- Early Intervention: Facilitates timely therapeutic approaches for better outcomes
- Peace of Mind: Reduces diagnostic uncertainty and provides clear answers
- Research Contribution: Helps advance understanding of rare genetic conditions
Understanding Your Test Results
Our comprehensive genetic counseling services help you interpret your PGAP2 test results effectively:
Positive Results
A positive result indicates the presence of pathogenic variants in the PGAP2 gene. This confirmation enables:
- Development of personalized medical management plans
- Implementation of appropriate therapeutic interventions
- Family member testing and genetic counseling
- Connection with support networks and specialized care
Negative Results
A negative result suggests that PGAP2 gene mutations are not the cause of the observed symptoms, guiding healthcare providers toward alternative diagnostic pathways and eliminating this specific condition from consideration.
Variant of Uncertain Significance
In some cases, genetic changes of unknown clinical significance may be identified. Our genetic counselors provide expert guidance on interpreting these findings and determining appropriate next steps.
Test Details and Pricing
| Test Feature | Details |
|---|---|
| Test Name | PGAP2 Gene Hyperphosphatasia with Mental Retardation Syndrome Type 3 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 | Pediatric Genetics |
Pre-Test Requirements
To ensure optimal testing outcomes, we recommend:
- Complete clinical history of the patient
- Genetic counseling session prior to testing
- Development of detailed family pedigree chart
- Documentation of affected family members
Nationwide Testing Availability
We proudly offer PGAP2 genetic testing services across the United States with convenient 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 nationwide network ensures accessible genetic testing for families throughout the country.
Take the Next Step Toward Genetic Clarity
Don’t let uncertainty about genetic conditions affect your family’s future. Our PGAP2 Gene Hyperphosphatasia with Mental Retardation Syndrome Type 3 NGS Genetic DNA Test provides the definitive answers you need for informed healthcare decisions. With our discounted price of $500 USD and comprehensive genetic counseling support, you can access world-class genetic testing with confidence.
Call or WhatsApp us today at +1(267) 388-9828 to schedule your genetic test or speak with our genetic counseling team. Take control of your genetic health and unlock the power of precision medicine for your family’s wellbeing.
