SGSH Gene Mucopolysaccharidosis Type 3A NGS Genetic DNA Test
Comprehensive Genetic Testing for Sanfilippo Syndrome Type A
The SGSH Gene Mucopolysaccharidosis Type 3A NGS Genetic DNA Test represents a breakthrough in diagnostic precision for individuals and families affected by Sanfilippo Syndrome Type A. This advanced genetic analysis utilizes cutting-edge next-generation sequencing technology to identify specific mutations in the SGSH gene, which encodes the enzyme heparan N-sulfatase. When this enzyme is deficient due to genetic mutations, it leads to the accumulation of complex sugar molecules called glycosaminoglycans within cells, causing progressive neurological damage and developmental regression.
What This Test Measures and Detects
Our comprehensive NGS genetic test specifically targets:
- Complete sequencing of the SGSH gene to identify point mutations, insertions, and deletions
- Detection of known pathogenic variants associated with Mucopolysaccharidosis Type 3A
- Identification of novel mutations that may contribute to disease manifestation
- Analysis of gene regions critical for enzyme function and protein structure
- Assessment of genetic variants that impact heparan sulfate degradation pathways
Who Should Consider This Genetic Test
This specialized genetic testing is recommended for individuals presenting with:
- Unexplained developmental regression in early childhood
- Progressive speech and language delays despite normal initial development
- Behavioral changes including hyperactivity, aggression, or sleep disturbances
- Coarse facial features and mild skeletal abnormalities
- Family history of Sanfilippo Syndrome or unexplained neurological disorders
- Parents planning pregnancy with known family history of metabolic disorders
- Children with hepatosplenomegaly and recurrent respiratory infections
Significant Benefits of Genetic Testing
Undergoing the SGSH Gene Mucopolysaccharidosis Type 3A test provides numerous advantages:
- Early Diagnosis: Enables timely intervention and management strategies
- Family Planning: Provides crucial information for reproductive decisions
- Treatment Guidance: Helps direct appropriate therapeutic approaches
- Prognostic Information: Offers insights into disease progression expectations
- Genetic Counseling: Supports informed decision-making for affected families
- Research Contribution: Advances understanding of rare metabolic disorders
Understanding Your Test Results
Our genetic specialists provide comprehensive interpretation of your results:
- Positive Result: Indicates presence of pathogenic mutations confirming Sanfilippo Syndrome Type A diagnosis
- Negative Result: Suggests absence of known SGSH gene mutations, though clinical correlation is essential
- Variant of Uncertain Significance: Requires additional family studies and clinical evaluation
- Carrier Status: Identifies individuals with one mutated copy who may pass the condition to offspring
All results include detailed explanations and recommendations for next steps, including referrals to metabolic specialists and genetic counselors.
Test Pricing and Sample Requirements
| Test Component | Details |
|---|---|
| Test Name | SGSH Gene Mucopolysaccharidosis Type 3A 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 |
Nationwide Accessibility and Support
GGC DNA maintains comprehensive testing facilities across the United States, with convenient locations in major metropolitan areas including New York, Los Angeles, Chicago, Houston, Phoenix, Philadelphia, San Antonio, San Diego, Dallas, and San Jose. Our network of certified genetic counselors and metabolic specialists ensures you receive personalized support throughout the testing process.
Pre-Test Requirements: We recommend genetic counseling sessions to document detailed family history and create pedigree charts. Please provide complete clinical history of the patient undergoing testing.
Take Control of Your Genetic Health Today
Don’t let uncertainty about genetic conditions affect your family’s future. Our SGSH Gene Mucopolysaccharidosis Type 3A NGS Genetic DNA Test provides the clarity and confidence you need for informed healthcare decisions. With advanced NGS technology and expert interpretation, we deliver reliable results you can trust.
Ready to begin your genetic testing journey? Contact our genetic specialists today at +1(267) 388-9828 or book your appointment online. Take the first step toward understanding your genetic health with confidence and precision.
