PACS1 Gene Mental Retardation Autosomal Dominant Type 17 NGS Genetic DNA Test
Comprehensive Genetic Testing for Neurological Development Disorders
The PACS1 Gene Mental Retardation Autosomal Dominant Type 17 NGS Genetic DNA Test represents a cutting-edge diagnostic approach for identifying genetic mutations associated with intellectual disability and developmental disorders. This specialized test utilizes next-generation sequencing technology to analyze the PACS1 gene, which plays a critical role in neuronal development and function. Understanding the genetic basis of neurological conditions is essential for accurate diagnosis, appropriate medical management, and informed family planning decisions.
What Does the PACS1 Gene Test Measure?
This advanced genetic test specifically targets mutations in the PACS1 (Phosphofurin Acidic Cluster Sorting Protein 1) gene, which has been identified as the causative factor for autosomal dominant mental retardation type 17. The test employs sophisticated NGS technology to detect:
- Point mutations and single nucleotide variants in the PACS1 gene
- Small insertions and deletions affecting gene function
- Pathogenic variants associated with neurological impairment
- Specific mutations known to cause intellectual disability syndrome
Who Should Consider This Genetic Test?
This test is particularly recommended for individuals displaying symptoms consistent with PACS1-related disorders, including:
- Children with unexplained developmental delays and intellectual disability
- Individuals with characteristic facial features associated with PACS1 syndrome
- Patients with speech and language development challenges
- Those exhibiting motor coordination difficulties and hypotonia
- Individuals with behavioral abnormalities or autism spectrum features
- Patients with family history of similar neurological conditions
- Couples planning pregnancy with known family history of intellectual disability
Key Benefits of PACS1 Genetic Testing
Undergoing this comprehensive genetic analysis provides numerous advantages for patients and families:
- Definitive Diagnosis: Provides clear genetic confirmation of PACS1-related disorders
- Personalized Treatment Planning: Enables targeted therapeutic interventions and management strategies
- Family Planning Guidance: Offers valuable information for reproductive decision-making
- Early Intervention Opportunities: Facilitates timely support services and educational planning
- Reduced Diagnostic Uncertainty: Eliminates prolonged diagnostic odyssey and multiple testing
- Genetic Counseling Support: Provides framework for understanding inheritance patterns
Understanding Your Test Results
Our genetic specialists provide comprehensive interpretation of your PACS1 gene test results:
- Positive Result: Indicates the presence of a pathogenic mutation in the PACS1 gene, confirming the diagnosis of autosomal dominant mental retardation type 17
- Negative Result: Suggests no detectable mutation in the PACS1 gene, though other genetic causes should be considered
- Variant of Uncertain Significance: Identifies genetic changes whose clinical significance requires further investigation
- Carrier Status: Provides information about inheritance patterns for family members
Test Specifications and Pricing
| Test Component | Details |
|---|---|
| Test Name | PACS1 Gene Mental Retardation Autosomal Dominant Type 17 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 | Neurology and Genetics |
Nationwide Accessibility and Support
We have established testing facilities across the United States, ensuring convenient access to advanced genetic diagnostics in major metropolitan areas including New York, Los Angeles, Chicago, Houston, Miami, and Phoenix. Our network of certified genetic counselors and neurological specialists provides comprehensive pre-test counseling and post-test support services.
Take the Next Step Toward Genetic Clarity
Don’t let uncertainty about neurological conditions affect your family’s future. Our PACS1 genetic testing provides the answers you need for informed medical decisions and family planning. Contact our genetic counseling team today to schedule your consultation and testing appointment.
Call or WhatsApp: +1(267) 388-9828 to book your PACS1 Gene Mental Retardation Autosomal Dominant Type 17 NGS Genetic DNA Test and take the first step toward genetic understanding and personalized care.
