HSPG2 Gene Dyssegmental Dysplasia Silverman-Handmaker Type NGS Genetic DNA Test
Comprehensive Genetic Testing for Rare Skeletal Disorders
The HSPG2 Gene Dyssegmental Dysplasia Silverman-Handmaker Type NGS Genetic DNA Test represents a breakthrough in molecular diagnostics for rare skeletal conditions. This advanced genetic test specifically targets mutations in the HSPG2 gene, which encodes perlecan—a critical component of basement membranes essential for proper skeletal development and connective tissue integrity.
What This Test Measures and Detects
Our specialized NGS genetic test provides comprehensive analysis of the HSPG2 gene to identify pathogenic variants associated with Dyssegmental Dysplasia Silverman-Handmaker type. The test specifically detects:
- Point mutations, insertions, and deletions in the HSPG2 gene
- Pathogenic variants affecting perlecan protein function
- Genetic alterations responsible for abnormal bone development
- Inheritance patterns for family planning considerations
- Specific mutations linked to disease severity and progression
Who Should Consider This Genetic Test
This specialized genetic testing is recommended for individuals presenting with:
- Newborns with characteristic short-limbed dwarfism
- Individuals with severe skeletal abnormalities at birth
- Patients exhibiting joint contractures and limited mobility
- Those with distinctive facial features including prominent forehead and flat nasal bridge
- Family history of skeletal dysplasia or connective tissue disorders
- Unexplained bone malformations in prenatal ultrasound findings
- Suspected cases of lethal skeletal dysplasias requiring definitive diagnosis
Clinical Benefits of HSPG2 Genetic Testing
Undergoing this comprehensive genetic analysis provides numerous clinical advantages:
- Accurate Diagnosis: Confirms clinical suspicions with molecular precision
- Family Planning: Enables informed reproductive decisions for at-risk families
- Treatment Guidance: Helps direct appropriate medical and surgical interventions
- Prognostic Information: Provides insights into disease progression and management
- Genetic Counseling: Supports comprehensive family risk assessment
- Research Contribution: Advances understanding of rare skeletal disorders
Understanding Your Test Results
Our genetic specialists provide comprehensive interpretation of your HSPG2 gene analysis:
- Positive Result: Identifies specific HSPG2 mutation, confirming diagnosis and enabling targeted management
- Negative Result: Suggests alternative genetic causes for skeletal abnormalities
- Variant of Uncertain Significance: Requires additional family studies and clinical correlation
- Carrier Status: Identifies individuals with single gene copies who may pass the condition to offspring
All results include detailed genetic counseling to ensure complete understanding and appropriate next steps.
Test Pricing and Availability
| Test Component | Price (USD) |
|---|---|
| Discount Price | $500 |
| Regular Price | $700 |
Nationwide Testing Accessibility
We proudly offer comprehensive genetic testing services across the United States, with convenient locations in major metropolitan areas including New York, Los Angeles, Chicago, Houston, Phoenix, Philadelphia, San Antonio, San Diego, Dallas, and San Jose. Our network of certified genetic counselors and medical professionals ensures accessible, high-quality care regardless of your location.
Take Control of Your Genetic Health Today
Early and accurate genetic diagnosis is crucial for managing Dyssegmental Dysplasia Silverman-Handmaker type. Our state-of-the-art NGS technology provides the most comprehensive analysis available, delivering results within 3-4 weeks from sample collection. Don’t wait to get the answers you need for proper medical management and family planning.
Call or WhatsApp us today at +1(267) 388-9828 to schedule your HSPG2 genetic test consultation and take the first step toward definitive diagnosis and personalized care.
