GNS Gene Mucopolysaccharidosis Type 3D NGS Genetic DNA Test
Comprehensive Genetic Testing for Sanfilippo Syndrome Type D
The GNS Gene Mucopolysaccharidosis Type 3D NGS Genetic DNA Test represents a cutting-edge diagnostic approach for identifying Sanfilippo syndrome type D, a rare inherited metabolic disorder. This advanced genetic test utilizes next-generation sequencing technology to provide comprehensive analysis of the GNS gene, enabling accurate detection of mutations responsible for mucopolysaccharidosis type 3D.
What Does This Test Measure and Detect?
This sophisticated genetic test specifically targets the GNS (glucosamine (N-acetyl)-6-sulfatase) gene located on chromosome 12q14. The test detects:
- Point mutations and small insertions/deletions in the GNS gene
- Missense, nonsense, and frameshift mutations affecting enzyme function
- Genetic variations that impair N-acetylglucosamine-6-sulfatase enzyme activity
- Inheritance patterns for genetic counseling purposes
- Carrier status identification in family members
Who Should Consider This Genetic Test?
This test is recommended for individuals presenting with symptoms suggestive of Sanfilippo syndrome type D, including:
- Children showing developmental regression after initial normal development
- Progressive neurological deterioration and cognitive decline
- Behavioral problems including hyperactivity and aggression
- Coarse facial features and mild skeletal abnormalities
- Hepatosplenomegaly (enlarged liver and spleen)
- Family history of mucopolysaccharidosis disorders
- Unexplained developmental delays in early childhood
- Suspected lysosomal storage disorders based on clinical presentation
Key Benefits of GNS Genetic Testing
Choosing the GNS Gene Mucopolysaccharidosis Type 3D NGS Genetic DNA Test provides numerous advantages:
- Accurate Diagnosis: Provides definitive diagnosis for proper disease management
- Early Intervention: Enables timely therapeutic interventions and supportive care
- Family Planning: Offers crucial information for genetic counseling and reproductive decisions
- Comprehensive Analysis: Utilizes advanced NGS technology for thorough genetic assessment
- Expert Interpretation: Results are analyzed by certified genetic specialists
- Nationwide Accessibility: Available across all major US cities with convenient sample collection
Understanding Your Test Results
Your genetic test results will be carefully interpreted by our team of genetic specialists:
- Positive Result: Indicates the presence of pathogenic mutations in the GNS gene, confirming Sanfilippo syndrome type D diagnosis
- Negative Result: Suggests no detectable mutations in the GNS gene, though clinical correlation is essential
- Variant of Uncertain Significance: Some genetic changes may require additional family studies for proper interpretation
- Carrier Status: Identifies individuals who carry one copy of the mutated gene but typically don’t show symptoms
All positive results include comprehensive genetic counseling to help you understand the implications and next steps for management and family planning.
Test Details and Pricing
| Test Component | Details |
|---|---|
| Test Name | GNS Gene Mucopolysaccharidosis Type 3D NGS Genetic DNA Test |
| Discount Price | $500 USD |
| Regular Price | $700 USD |
| Turnaround Time | 3 to 4 Weeks |
| Sample Type | Blood or Extracted DNA or One drop Blood on FTA Card |
| Testing Method | Next-Generation Sequencing (NGS) Technology |
| Specialty | Metabolic Genetics |
Pre-Test Requirements
Before scheduling your test, please ensure:
- Complete clinical history documentation of the patient
- Genetic counseling session to create a detailed family pedigree chart
- Identification of family members affected with mucopolysaccharidosis disorders
- Understanding of test implications and potential outcomes
Nationwide Testing Availability
We proudly serve patients across the United States with testing facilities in all major metropolitan areas including New York, Los Angeles, Chicago, Houston, Phoenix, Philadelphia, San Antonio, San Diego, Dallas, San Jose, and many more locations. Our network ensures convenient access to advanced genetic testing regardless of your location.
Take the Next Step Toward Genetic Clarity
Don’t let uncertainty about genetic conditions affect your family’s future. The GNS Gene Mucopolysaccharidosis Type 3D NGS Genetic DNA Test provides the answers you need for informed healthcare decisions. Our team of genetic specialists is ready to guide you through the testing process and help you understand your results.
Call or WhatsApp us today at +1(267) 388-9828 to schedule your genetic test or to speak with our genetic counseling team. Take control of your genetic health with comprehensive, accurate testing from trusted professionals.
