PIGO Gene Hyperphosphatasia with Mental Retardation Syndrome Type 2 NGS Genetic DNA Test
Comprehensive Genetic Testing for Rare Developmental Disorders
The PIGO Gene Hyperphosphatasia with Mental Retardation Syndrome Type 2 NGS Genetic DNA Test represents a cutting-edge diagnostic approach for identifying mutations in the PIGO (Phosphatidylinositol Glycan Anchor Biosynthesis Class O) gene. This specialized test utilizes next-generation sequencing technology to provide comprehensive analysis of genetic variations associated with this rare autosomal recessive disorder. Early and accurate diagnosis is crucial for implementing appropriate interventions and improving long-term outcomes for affected individuals.
What Does This Test Measure and Detect?
This advanced genetic test specifically targets the PIGO gene located on chromosome 9p13.3, which plays a critical role in the glycosylphosphatidylinositol (GPI) anchor biosynthesis pathway. The test detects:
- Pathogenic variants and mutations in the PIGO gene
- Single nucleotide variants (SNVs) and small insertions/deletions
- Copy number variations affecting the PIGO gene region
- Genetic markers associated with GPI anchor deficiency
Clinical Significance of PIGO Gene Mutations
Mutations in the PIGO gene disrupt the proper formation of GPI anchors, which are essential for attaching various proteins to cell membranes. This disruption leads to the characteristic features of hyperphosphatasia with mental retardation syndrome, including skeletal abnormalities, developmental delays, and elevated serum alkaline phosphatase levels.
Who Should Consider This Genetic Test?
This test is recommended for individuals presenting with the following clinical features:
- Developmental delay and intellectual disability of unknown origin
- Elevated serum alkaline phosphatase levels (hyperphosphatasia)
- Characteristic facial dysmorphism including coarse features
- Skeletal abnormalities such as brachytelephalangy and osteosclerosis
- Seizures or neurological symptoms
- Family history of similar developmental disorders
- Unexplained growth retardation in pediatric patients
Early Detection Benefits
Early genetic testing allows for prompt intervention and management strategies, potentially improving developmental outcomes and quality of life for affected individuals.
Key Benefits of PIGO Genetic Testing
- Accurate Diagnosis: Provides definitive genetic confirmation of PIGO-related disorders
- Personalized Treatment Planning: Enables targeted interventions based on specific genetic findings
- Family Planning Guidance: Offers crucial information for genetic counseling and reproductive decisions
- Prognostic Information: Helps predict disease progression and potential complications
- Research Contribution: Advances understanding of rare genetic disorders
- Insurance and Support Services: Facilitates access to specialized care and resources
Understanding Your Test Results
Our comprehensive genetic counseling services help you interpret your results effectively:
Positive Result Interpretation
A positive result indicates the presence of pathogenic mutations in the PIGO gene, confirming the diagnosis of hyperphosphatasia with mental retardation syndrome type 2. This information enables:
- Implementation of appropriate developmental interventions
- Regular monitoring for potential complications
- Family member testing recommendations
- Access to specialized medical care and support services
Negative Result Interpretation
A negative result suggests that PIGO gene mutations were not detected, indicating that symptoms may be caused by other genetic or environmental factors. Further evaluation may be recommended to identify alternative diagnoses.
Variant of Uncertain Significance (VUS)
In some cases, genetic variants of uncertain clinical significance may be identified. Our genetic counselors provide guidance on monitoring and potential follow-up testing.
Test Pricing and Details
| Test Feature | Details |
|---|---|
| Test Name | PIGO Gene Hyperphosphatasia with Mental Retardation Syndrome Type 2 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 |
| Testing Method | Next-Generation Sequencing (NGS) Technology |
Pre-Test Requirements
Before scheduling your test, please ensure:
- Complete clinical history documentation of the patient
- Genetic counseling session to create a detailed family pedigree chart
- Discussion of testing implications with our genetic specialists
- Understanding of potential outcomes and next steps
Nationwide Testing Availability
GGC DNA provides comprehensive genetic testing services across the United States, with convenient locations in major cities including:
- New York, NY
- Los Angeles, CA
- Chicago, IL
- Houston, TX
- Phoenix, AZ
- Philadelphia, PA
- San Antonio, TX
- San Diego, CA
- Dallas, TX
- San Jose, CA
Take the Next Step Toward Genetic Clarity
Don’t let uncertainty about developmental disorders delay necessary interventions. Our specialized pediatric genetics team is ready to provide the comprehensive testing and support your family needs.
Call or WhatsApp us today at +1(267) 388-9828 to schedule your PIGO genetic testing appointment. Our genetic counselors are available to answer your questions and guide you through the testing process.
Early genetic diagnosis can make a significant difference in managing hyperphosphatasia with mental retardation syndrome. Contact us now to begin your journey toward accurate diagnosis and personalized care planning.
