PIGW Gene Hyperphosphatasia with Mental Retardation Syndrome Type 5 NGS Genetic DNA Test
Comprehensive Genetic Testing for Developmental Disorders
The PIGW Gene Hyperphosphatasia with Mental Retardation Syndrome Type 5 NGS Genetic DNA Test represents a breakthrough in molecular diagnostics for rare developmental disorders. This advanced genetic analysis specifically targets mutations in the PIGW (Phosphatidylinositol Glycan Anchor Biosynthesis Class W) gene, which plays a crucial role in the glycosylphosphatidylinositol (GPI) anchor biosynthesis pathway. Disruptions in this pathway lead to Hyperphosphatasia with Mental Retardation Syndrome Type 5, a rare autosomal recessive condition characterized by significant developmental challenges and skeletal abnormalities.
What Does This Test Detect?
This sophisticated NGS-based genetic test identifies pathogenic variants in the PIGW gene that are responsible for:
- Mutations affecting GPI-anchor biosynthesis
- Genetic alterations causing elevated serum alkaline phosphatase
- Variants associated with intellectual disability and developmental delays
- Genetic markers for skeletal dysplasia and facial dysmorphism
- Inherited patterns of autosomal recessive disorders
Who Should Consider This Test?
This genetic test is recommended for individuals presenting with the following symptoms or clinical indications:
- Unexplained developmental delays in infancy or childhood
- Intellectual disability of unknown origin
- Elevated alkaline phosphatase levels without liver or bone disease
- Characteristic facial features including prominent forehead, hypertelorism, and broad nasal bridge
- Skeletal abnormalities such as brachydactyly or joint contractures
- Family history of similar developmental disorders
- Neurological symptoms including seizures or hypotonia
- Consanguineous parents or family history suggesting autosomal recessive inheritance
Key Benefits of PIGW Genetic Testing
Undergoing this comprehensive genetic analysis provides numerous advantages for patients and families:
- Definitive Diagnosis: Obtains conclusive genetic confirmation for suspected cases
- Personalized Treatment Planning: Enables targeted interventions based on specific genetic findings
- Family Planning Guidance: Provides crucial information for genetic counseling and reproductive decisions
- Early Intervention: Facilitates timely therapeutic approaches to optimize developmental outcomes
- Differential Diagnosis: Helps distinguish from other similar genetic syndromes
- Research Contribution: Advances understanding of rare genetic disorders
Understanding Your Test Results
Our comprehensive genetic counseling services help you interpret your results accurately:
- Positive Result: Confirms the presence of pathogenic PIGW gene mutations, establishing diagnosis of Hyperphosphatasia with Mental Retardation Syndrome Type 5
- Negative Result: Indicates no detectable mutations in the PIGW gene, suggesting alternative diagnoses should be considered
- Variant of Uncertain Significance: Identifies genetic changes whose clinical significance requires further investigation
- Carrier Status: Determines if individuals carry one copy of a mutated gene without showing symptoms
Test Details and Pricing
| Test Component | Details |
|---|---|
| Test Name | PIGW Gene Hyperphosphatasia with Mental Retardation Syndrome Type 5 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 |
| Specialty | Pediatrics, Genetics |
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 cities. Our network of certified genetic counselors and medical professionals ensures you receive comprehensive care regardless of your location.
Take the Next Step Toward Answers
If you or your loved one is experiencing symptoms suggestive of Hyperphosphatasia with Mental Retardation Syndrome Type 5, don’t wait to get the answers you need. Our experienced genetic specialists are ready to guide you through the testing process and provide the clarity necessary for informed medical decisions.
Call or WhatsApp us today at +1(267) 388-9828 to schedule your genetic counseling session and book your PIGW Gene Test. Early diagnosis can make a significant difference in treatment outcomes and quality of life.
