HPSE2 Gene Urofacial Syndrome Type 1 NGS Genetic DNA Test
Comprehensive Genetic Testing for Rare Pediatric Disorder
The HPSE2 Gene Urofacial Syndrome Type 1 NGS Genetic DNA Test represents a breakthrough in molecular diagnostics for rare congenital disorders. This advanced genetic screening utilizes next-generation sequencing technology to detect mutations in the HPSE2 gene, which plays a critical role in neural development and urinary system function. Urofacial Syndrome Type 1, also known as Ochoa Syndrome, is a rare autosomal recessive condition characterized by distinctive facial features and urinary tract abnormalities.
What This Test Measures and Detects
This comprehensive genetic analysis specifically targets the HPSE2 gene located on chromosome 10q23-q24. The test identifies:
- Point mutations, insertions, and deletions in the HPSE2 gene
- Pathogenic variants associated with Urofacial Syndrome Type 1
- Carrier status for autosomal recessive inheritance patterns
- Specific genetic markers that correlate with disease severity
The HPSE2 gene encodes heparanase 2, an enzyme involved in extracellular matrix remodeling and neural development. Mutations in this gene disrupt normal urinary tract innervation and facial muscle coordination, leading to the characteristic symptoms of the syndrome.
Who Should Consider This Genetic Test
This test is recommended for individuals presenting with the following clinical indications:
- Newborns and children with unexplained urinary retention or voiding dysfunction
- Patients displaying characteristic facial features including inverted smile appearance
- Individuals with family history of Urofacial Syndrome or consanguineous parents
- Children experiencing recurrent urinary tract infections without clear cause
- Patients with neurogenic bladder dysfunction of unknown origin
- Individuals with suspected genetic disorders affecting both urinary and facial systems
Key Benefits of HPSE2 Genetic Testing
Undergoing this comprehensive genetic analysis provides numerous advantages:
- Accurate Diagnosis: Provides definitive molecular confirmation of Urofacial Syndrome Type 1
- Early Intervention: Enables timely management of urinary complications
- Family Planning: Identifies carrier status for future reproductive decisions
- Treatment Guidance: Informs appropriate urological and neurological care strategies
- Prognostic Information: Helps predict disease progression and potential complications
- Genetic Counseling: Provides basis for comprehensive family genetic counseling
Understanding Your Test Results
Your genetic test report will provide detailed information about HPSE2 gene mutations:
- Positive Result: Indicates presence of pathogenic mutations confirming Urofacial Syndrome Type 1 diagnosis
- Negative Result: Suggests absence of detectable HPSE2 mutations, though clinical correlation remains essential
- Variant of Uncertain Significance: Identifies genetic changes requiring further clinical interpretation
- Carrier Status: Detects individuals with single mutation who may pass the condition to offspring
All results are accompanied by comprehensive interpretation from our board-certified genetic specialists. We recommend discussing results with your healthcare provider and genetic counselor to develop an appropriate management plan.
Test Pricing and Availability
| Test Feature | Details |
|---|---|
| Test Name | HPSE2 Gene Urofacial Syndrome Type 1 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 Availability
We have diagnostic centers conveniently located across the United States, serving major metropolitan areas including 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 Preparation Requirements
To ensure optimal testing outcomes, we recommend:
- Complete clinical history documentation of the patient
- Genetic counseling session to create detailed family pedigree chart
- Discussion of testing implications with healthcare provider
- Understanding of potential results and their clinical significance
Take the first step toward accurate diagnosis and comprehensive care. Book your HPSE2 Gene Urofacial Syndrome Type 1 NGS Genetic DNA Test today by calling our genetic specialists at +1(267) 388-9828 or schedule your appointment online. Our team is ready to provide the expert guidance and advanced testing you need for confident diagnosis and effective treatment planning.
