MPS Enzyme Panel NGS Genetic DNA Test
Comprehensive Metabolic Disorder Screening
The MPS Enzyme Panel NGS Genetic DNA Test represents a cutting-edge approach to diagnosing mucopolysaccharidoses (MPS), a group of rare inherited metabolic disorders. Utilizing next-generation sequencing (NGS) technology, this comprehensive panel provides unparalleled accuracy in identifying genetic mutations responsible for enzyme deficiencies that disrupt the body’s ability to break down complex carbohydrates called glycosaminoglycans (GAGs).
What This Advanced Test Measures
This sophisticated genetic panel specifically targets and analyzes multiple genes associated with various types of mucopolysaccharidoses, including:
- IDUA gene mutations linked to Hurler, Hurler-Scheie, and Scheie syndromes (MPS I)
- IDS gene variations causing Hunter syndrome (MPS II)
- SGSH gene abnormalities associated with Sanfilippo syndrome type A (MPS IIIA)
- NAGLU gene defects related to Sanfilippo syndrome type B (MPS IIIB)
- GNS gene mutations connected to Sanfilippo syndrome type D (MPS IIID)
- GALNS gene variations causing Morquio syndrome type A (MPS IVA)
- ARSB gene abnormalities linked to Maroteaux-Lamy syndrome (MPS VI)
Who Should Consider This Genetic Screening
This comprehensive MPS Enzyme Panel is particularly recommended for individuals presenting with:
- Unexplained developmental delays in childhood
- Progressive skeletal abnormalities and joint stiffness
- Coarse facial features that develop over time
- Recurrent respiratory infections and breathing difficulties
- Hearing and vision impairments without clear cause
- Organ enlargement, particularly liver and spleen
- Family history of metabolic disorders or consanguineous parents
- Unexplained neurological deterioration
Significant Benefits of Early Detection
Undergoing the MPS Enzyme Panel NGS Genetic DNA Test offers numerous advantages:
- Early Intervention Opportunities: Timely diagnosis allows for prompt initiation of enzyme replacement therapy
- Accurate Prognostic Information: Specific genetic mutations provide insights into disease progression
- Family Planning Guidance: Enables informed reproductive decisions for at-risk families
- Personalized Treatment Strategies: Genetic information helps tailor therapeutic approaches
- Comprehensive Disease Management: Facilitates multidisciplinary care coordination
- Psychological Relief: Provides definitive answers for families facing diagnostic uncertainty
Understanding Your Test Results
Your MPS Enzyme Panel results will be carefully interpreted by our genetic specialists:
- Positive Result: Indicates the presence of pathogenic mutations associated with specific MPS types, requiring immediate consultation with metabolic specialists
- Negative Result: Suggests no detectable mutations in the tested genes, though clinical correlation remains essential
- Variant of Uncertain Significance (VUS): Identifies genetic changes with unclear clinical implications, often requiring additional family studies
- Carrier Status: Reveals if an individual carries one copy of a mutated gene, important for family planning considerations
Test Pricing Information
| Test Name | Discount Price | Regular Price |
|---|---|---|
| MPS Enzyme Panel NGS Genetic DNA Test | $500 USD | $750 USD |
Nationwide Accessibility
We proudly serve patients across the United States with convenient testing locations in all major metropolitan areas including New York, Los Angeles, Chicago, Houston, Phoenix, Philadelphia, San Antonio, San Diego, Dallas, and San Jose. Our comprehensive network ensures that advanced genetic testing is accessible to everyone who needs it.
Take the Next Step Toward Clarity
Don’t let uncertainty about metabolic symptoms delay your path to diagnosis and treatment. Our experienced genetic counselors are available to discuss your concerns and guide you through the testing process. Contact us today at +1(267) 388-9828 to schedule your MPS Enzyme Panel NGS Genetic DNA Test and take control of your health journey.
Important Pre-Test Information: Please bring complete clinical history documentation and be prepared for a genetic counseling session to create a detailed family pedigree chart. Sample collection options include blood draw, extracted DNA, or a simple finger prick blood spot on an FTA card. Results are typically available within 3-4 weeks.
