IDUA Gene Hurler-Scheie Syndrome NGS Genetic DNA Test
Comprehensive Genetic Analysis for Mucopolysaccharidosis Type I
The IDUA Gene Hurler-Scheie Syndrome NGS Genetic DNA Test represents a breakthrough in genetic diagnostics for metabolic disorders. This advanced testing method utilizes next-generation sequencing technology to analyze the IDUA gene, which encodes the enzyme alpha-L-iduronidase. Deficiencies in this enzyme lead to mucopolysaccharidosis type I, a rare inherited metabolic condition that affects multiple body systems.
What This Test Measures and Detects
Our comprehensive NGS genetic test specifically targets the IDUA gene to identify pathogenic variants responsible for Hurler-Scheie syndrome. The test examines:
- Point mutations and small insertions/deletions in the IDUA gene
- Missense, nonsense, and splice-site mutations
- Compound heterozygous mutations
- Novel genetic variants affecting enzyme function
- Inheritance patterns for genetic counseling purposes
Who Should Consider This Genetic Test
This test is recommended for individuals presenting with symptoms suggestive of mucopolysaccharidosis type I, including:
- Children with developmental delays and progressive cognitive decline
- Individuals with coarse facial features and skeletal abnormalities
- Patients experiencing joint stiffness and limited mobility
- Those with organ enlargement (liver and spleen)
- Individuals with vision and hearing problems
- Family members of diagnosed patients for carrier testing
- Couples with family history planning pregnancy
Key Benefits of Genetic Testing
Early genetic diagnosis through our IDUA gene testing provides numerous advantages:
- Accurate Diagnosis: Confirms or rules out Hurler-Scheie syndrome with precision
- Treatment Guidance: Enables timely intervention with enzyme replacement therapy
- Family Planning: Provides crucial information for reproductive decisions
- Prognostic Information: Helps predict disease progression and severity
- Clinical Management: Guides appropriate monitoring and specialist referrals
- Genetic Counseling: Supports families in understanding inheritance patterns
Understanding Your Test Results
Our genetic specialists provide comprehensive interpretation of your results:
- Positive Result: Identifies pathogenic mutations confirming diagnosis, requiring immediate specialist consultation
- Negative Result: No disease-causing mutations detected, though clinical follow-up may be recommended
- Variant of Uncertain Significance: Requires additional family studies and clinical correlation
- Carrier Status: Identifies individuals with one mutated copy who may pass the condition to offspring
Test Details and Pricing
| Test Name | Sample Type | Turnaround Time | Discount Price | Regular Price |
|---|---|---|---|---|
| IDUA Gene Hurler-Scheie Syndrome NGS Genetic DNA Test | Blood, Extracted DNA, or Blood on FTA Card | 3-4 Weeks | $500 USD | $700 USD |
Nationwide Testing Availability
We have diagnostic centers conveniently located across the United States, including major metropolitan areas such as New York, Los Angeles, Chicago, Houston, Phoenix, Philadelphia, San Antonio, San Diego, Dallas, and San Jose. Our state-of-the-art laboratories ensure consistent, high-quality testing regardless of location.
Pre-Test Requirements
Before testing, we recommend:
- Complete clinical history documentation
- Genetic counseling session with our certified genetic counselors
- Family pedigree analysis to identify inheritance patterns
- Discussion of potential implications and limitations of testing
Take Control of Your Genetic Health Today
Don’t wait to get the answers you need about potential genetic conditions. Our IDUA Gene Hurler-Scheie Syndrome NGS Genetic DNA Test provides the comprehensive genetic information necessary for informed healthcare decisions. With our discounted price of $500 and nationwide availability, accessing advanced genetic testing has never been more convenient.
Call or WhatsApp us today at +1(267) 388-9828 to schedule your genetic test or speak with our genetic counseling team. Early detection can make a significant difference in managing metabolic disorders effectively.
