HGSNAT Gene Mucopolysaccharidosis Type 3C NGS Genetic DNA Test
Comprehensive Genetic Testing for Sanfilippo Syndrome Type C
The HGSNAT Gene Mucopolysaccharidosis Type 3C NGS Genetic DNA Test represents a cutting-edge diagnostic approach for identifying Sanfilippo Syndrome Type C, a rare inherited metabolic disorder. This sophisticated genetic analysis utilizes next-generation sequencing technology to detect mutations in the HGSNAT gene, providing families and healthcare providers with definitive diagnostic information crucial for managing this progressive neurological condition.
What This Advanced Genetic Test Measures
Our comprehensive NGS-based test specifically targets the HGSNAT (heparan-alpha-glucosaminide N-acetyltransferase) gene, which plays a critical role in the breakdown of complex sugar molecules called glycosaminoglycans. The test identifies:
- Point mutations and small insertions/deletions in the HGSNAT gene
- Compound heterozygous mutations causing Sanfilippo Syndrome Type C
- Pathogenic variants affecting heparan sulfate degradation
- Carrier status for autosomal recessive inheritance patterns
Who Should Consider This Genetic Test
This specialized genetic testing is recommended for individuals presenting with symptoms suggestive of mucopolysaccharidosis type IIIC, including:
- Children showing developmental regression after initial normal development
- Progressive neurological deterioration with loss of acquired skills
- Behavioral abnormalities including hyperactivity and aggression
- Coarse facial features and mild skeletal abnormalities
- Family history of Sanfilippo syndrome or unexplained neurological disorders
- Unexplained developmental delays with normal initial milestones
Significant Benefits of Early Genetic Diagnosis
Obtaining a definitive genetic diagnosis through our HGSNAT gene testing provides numerous advantages:
- Accurate Diagnosis: Confirms Sanfilippo Syndrome Type C with molecular precision
- Family Planning: Enables informed reproductive decisions and carrier testing
- Prognostic Information: Helps predict disease progression and management needs
- Clinical Management: Guides appropriate symptomatic treatment strategies
- Research Opportunities: Connects families with clinical trials and emerging therapies
Understanding Your Genetic Test Results
Our comprehensive genetic counseling support helps you interpret your results effectively:
- Positive Result: Identifies pathogenic mutations confirming Sanfilippo Syndrome Type C diagnosis
- Carrier Status: Indicates one mutated copy with increased risk for affected offspring
- Negative Result: No HGSNAT mutations detected, suggesting alternative diagnoses
- Variant of Uncertain Significance: Requires additional family studies for interpretation
Test Pricing and Availability
| Test Feature | Details |
|---|---|
| Test Name | HGSNAT Gene Mucopolysaccharidosis Type 3C 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 |
Nationwide Testing Accessibility
We maintain comprehensive testing facilities across the United States, with convenient locations in all major metropolitan areas including New York, Los Angeles, Chicago, Houston, Phoenix, Philadelphia, San Antonio, San Diego, Dallas, and San Jose. Our network ensures accessible genetic testing services for families nationwide.
Take Action Today
Don’t wait to get the answers you need for proper diagnosis and management of suspected Sanfilippo Syndrome Type C. Our specialized genetic testing provides the clarity required for informed medical decisions and family planning.
Call or WhatsApp us today at +1(267) 388-9828 to schedule your HGSNAT gene testing appointment. Our genetic counselors are available to discuss testing options, insurance coverage, and answer any questions about the testing process.
Early genetic diagnosis can make a significant difference in managing mucopolysaccharidosis type IIIC and planning appropriate care strategies. Contact us now to begin your journey toward definitive answers and comprehensive genetic understanding.
