Mucopolysaccharidosis MPS Type 1 Hurler Quantitative Blood Test
Understanding Mucopolysaccharidosis Type 1 (Hurler Syndrome)
Mucopolysaccharidosis Type 1, commonly known as Hurler syndrome, is a rare inherited metabolic disorder that affects approximately 1 in 100,000 newborns. This condition belongs to a group of diseases called mucopolysaccharidoses, which result from the body’s inability to properly break down complex sugar molecules called glycosaminoglycans (GAGs). The Mucopolysaccharidosis MPS Type 1 Hurler Quantitative Blood Test provides crucial diagnostic information by measuring the activity of the alpha-L-iduronidase enzyme, which is deficient in individuals with this condition.
What This Test Measures
The Mucopolysaccharidosis MPS Type 1 Hurler Quantitative Blood Test specifically measures:
- Alpha-L-iduronidase enzyme activity levels in blood samples
- Quantitative assessment of enzyme function
- Precise measurement of metabolic processing capability
- Diagnostic confirmation of MPS I deficiency
Who Should Consider This Test?
This specialized genetic test is recommended for individuals displaying symptoms suggestive of mucopolysaccharidosis type 1, including:
Clinical Indications and Symptoms
- Infants and children with developmental delays
- Coarse facial features and enlarged tongue
- Progressive skeletal abnormalities and joint stiffness
- Hearing loss and recurrent ear infections
- Cloudy corneas and vision problems
- Enlarged liver and spleen (hepatosplenomegaly)
- Heart valve abnormalities and cardiac issues
- Family history of mucopolysaccharidosis or unexplained infant deaths
Benefits of Early Detection
Early diagnosis through the Mucopolysaccharidosis MPS Type 1 Hurler Quantitative Blood Test offers numerous advantages:
Medical Benefits
- Enables early intervention with enzyme replacement therapy
- Facilitates timely hematopoietic stem cell transplantation
- Allows for comprehensive management of associated complications
- Provides accurate genetic counseling for family planning
- Improves overall prognosis and quality of life
Family Benefits
- Clarifies diagnosis and reduces diagnostic uncertainty
- Enables informed medical decision-making
- Provides access to specialized care and support services
- Facilitates connection with patient advocacy groups
Understanding Your Test Results
Interpreting the results of the Mucopolysaccharidosis MPS Type 1 Hurler Quantitative Blood Test requires professional medical expertise:
Normal Results
Normal alpha-L-iduronidase enzyme activity levels typically indicate that the individual does not have MPS type 1. However, clinical correlation with symptoms and additional testing may be necessary for comprehensive assessment.
Abnormal Results
Significantly reduced or absent enzyme activity confirms the diagnosis of mucopolysaccharidosis type 1. The degree of enzyme deficiency often correlates with disease severity, helping guide treatment decisions and prognosis assessment.
Follow-up Considerations
- Genetic counseling for confirmed cases
- Additional testing for carrier status in family members
- Comprehensive multidisciplinary care planning
- Regular monitoring and follow-up testing
Test Pricing and Availability
| Price Type | Amount (USD) |
|---|---|
| Discount Price | $162 |
| Regular Price | $238 |
Test Specifications
- Turnaround Time: Sample Daily by 4 pm; Report 4 days
- Sample Type: 10 mL (7.5 mL min.) whole blood from 3 Lavender Top (EDTA) tubes OR Green Top (Sodium Heparin) tubes
- Shipping Instructions: Ship refrigerated. DO NOT FREEZE
- Pre-test Requirements: Provide brief clinical history
Nationwide Testing Availability
General Genetics Corporation provides comprehensive Mucopolysaccharidosis MPS Type 1 Hurler Quantitative Blood Testing services across the United States. Our network includes testing facilities in major metropolitan areas including:
- New York City and surrounding areas
- Los Angeles and Southern California
- Chicago and Midwest regions
- Houston, Dallas, and Texas locations
- Miami, Orlando, and Florida centers
- Seattle, Portland, and Pacific Northwest facilities
Take Action Today
Early detection of mucopolysaccharidosis type 1 can significantly impact treatment outcomes and quality of life. If you suspect this condition in yourself or a family member, don’t delay in seeking proper diagnosis.
Call us today at +1(267) 388-9828 to schedule your Mucopolysaccharidosis MPS Type 1 Hurler Quantitative Blood Test. Our genetic counseling team is available to answer your questions and guide you through the testing process.
With our discounted price of $162 USD and comprehensive nationwide coverage, accessing this crucial diagnostic test has never been more convenient. Protect your family’s health by taking proactive steps toward accurate diagnosis and effective management of this rare genetic condition.
