PHF8 Gene Mental Retardation X-Linked Siderius Type NGS Genetic DNA Test
Comprehensive Genetic Testing for X-Linked Intellectual Disability
The PHF8 Gene Mental Retardation X-Linked Siderius Type NGS Genetic DNA Test represents a breakthrough in neurological genetic diagnostics. This advanced test specifically targets mutations in the PHF8 (Plant Homeodomain Finger Protein 8) gene, which plays a crucial role in histone demethylation and gene regulation during brain development. When mutations occur in this X-linked gene, they can lead to Siderius type mental retardation, a rare form of intellectual disability characterized by distinctive clinical features and developmental challenges.
What This Test Measures and Detects
Our NGS-based genetic test provides comprehensive analysis of the PHF8 gene to identify:
- Point mutations and single nucleotide variants (SNVs)
- Small insertions and deletions (indels)
- Copy number variations (CNVs) affecting the PHF8 gene
- Frameshift mutations that disrupt protein function
- Missense and nonsense mutations affecting gene expression
The test utilizes state-of-the-art Next-Generation Sequencing technology, offering unparalleled accuracy in detecting even the most subtle genetic variations that conventional methods might miss.
Who Should Consider This Genetic Test
This test is particularly recommended for individuals presenting with:
- Unexplained intellectual disability or developmental delays
- Characteristic facial features including cleft lip/palate
- Family history of X-linked intellectual disability
- Males with developmental regression or learning difficulties
- Individuals with suspected genetic syndromes affecting cognitive function
- Families seeking genetic counseling for family planning purposes
Clinical Benefits of PHF8 Genetic Testing
Undergoing PHF8 genetic testing provides numerous clinical advantages:
- Accurate Diagnosis: Confirms or rules out Siderius type mental retardation with high precision
- Family Planning Guidance: Enables informed reproductive decisions for at-risk families
- Personalized Management: Facilitates tailored educational and therapeutic interventions
- Early Intervention: Allows for proactive developmental support strategies
- Genetic Counseling: Provides comprehensive family risk assessment and counseling
- Research Contribution: Contributes to ongoing scientific understanding of neurological disorders
Understanding Your Test Results
Our genetic counseling team provides comprehensive interpretation of your results:
- Positive Result: Indicates the presence of a PHF8 gene mutation associated with Siderius type mental retardation. Our genetic counselors will explain inheritance patterns and provide family management recommendations.
- Negative Result: Suggests that no disease-causing mutations were detected in the PHF8 gene. However, other genetic causes for intellectual disability may need consideration.
- Variant of Uncertain Significance (VUS): Some genetic changes may have unknown clinical significance. Our team provides ongoing monitoring and reclassification as new research emerges.
Test Pricing and Details
| Test Feature | Details |
|---|---|
| Test Name | PHF8 Gene Mental Retardation X-Linked Siderius Type 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 |
Nationwide Testing Availability
We proudly offer comprehensive 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, and San Jose. Our state-of-the-art laboratories ensure consistent, high-quality results 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 of genetic counselors and neurologists is ready to guide you through the testing process and provide the answers you need. Schedule your PHF8 genetic test today and take control of your genetic health.
Call us now at +1(267) 388-9828 to book your appointment or speak with our genetic counseling team. We’re here to provide the clarity and guidance you deserve.
