PIGV Gene Hyperphosphatasia with Mental Retardation Syndrome Type 1 NGS Genetic DNA Test
Comprehensive Genetic Analysis for Rare Developmental Disorders
The PIGV Gene Hyperphosphatasia with Mental Retardation Syndrome Type 1 NGS Genetic DNA Test represents a breakthrough in molecular diagnostics for rare genetic conditions affecting neurological development and bone metabolism. This advanced testing methodology provides crucial insights into inherited disorders characterized by intellectual disability, developmental delays, and distinctive biochemical markers.
What This Test Measures and Detects
This sophisticated genetic analysis specifically targets mutations in the PIGV (Phosphatidylinositol Glycan Anchor Biosynthesis Class V) gene, which plays a critical role in the glycosylphosphatidylinositol (GPI) anchor biosynthesis pathway. The test utilizes Next-Generation Sequencing technology to identify:
- Point mutations and small insertions/deletions in the PIGV gene
- Genetic variants associated with Hyperphosphatasia with Mental Retardation Syndrome
- Inheritance patterns and carrier status information
- Molecular confirmation of clinical diagnoses
Who Should Consider This Genetic Test
This specialized genetic testing is recommended for individuals presenting with the following clinical features:
- Unexplained developmental delays in early childhood
- Intellectual disability of unknown etiology
- Elevated serum alkaline phosphatase levels
- Characteristic facial dysmorphism including prominent forehead and hypertelorism
- Seizures or neurological abnormalities
- Family history of similar developmental conditions
- Children with multiple congenital anomalies
Clinical Benefits of PIGV Genetic Testing
Undergoing this comprehensive genetic analysis provides numerous advantages for patients and healthcare providers:
- Accurate Diagnosis: Provides definitive molecular confirmation of PIGV-related disorders
- Personalized Treatment Planning: Enables targeted therapeutic interventions based on genetic findings
- Family Planning Guidance: Offers crucial information for genetic counseling and reproductive decisions
- Prognostic Insights: Helps predict disease progression and potential complications
- Early Intervention: Facilitates timely implementation of developmental support services
- Research Contribution: Advances understanding of rare genetic conditions
Understanding Your Test Results
Our comprehensive genetic counseling services help patients and families interpret test results effectively:
- Positive Result: Confirms PIGV gene mutation and establishes definitive diagnosis
- Negative Result: Rules out PIGV-related disorders, guiding further diagnostic evaluation
- Variant of Uncertain Significance: Identifies genetic changes requiring additional clinical correlation
- Carrier Status: Provides information about inheritance risk for future generations
Test Specifications and Pricing
| Test Component | Details |
|---|---|
| Test Name | PIGV Gene Hyperphosphatasia with Mental Retardation Syndrome Type 1 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 |
| Specialty | Pediatrics |
| Department | Genetics |
| Method | NGS Technology |
| Disease Type | Dysmorphology |
Pre-Test Requirements
Before scheduling your genetic test, please ensure you have:
- Complete clinical history of the patient
- Genetic counseling session scheduled to create a detailed family pedigree
- Documentation of affected family members with similar symptoms
- Recent clinical evaluations and laboratory findings
Nationwide Accessibility
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, and many other cities. Our network of certified genetic counselors and medical professionals ensures comprehensive care regardless of your location.
Take the Next Step Toward Genetic Clarity
Don’t let uncertainty about genetic conditions affect your family’s future. Our expert team is ready to guide you through the testing process and provide the answers you need for informed healthcare decisions.
Call or WhatsApp us today at +1(267) 388-9828 to schedule your PIGV genetic test consultation and take control of your genetic health journey.
