HSPG2 Gene Dyssegmental Dysplasia Silverman-Handmaker Type NGS Genetic DNA Test
Comprehensive Genetic Analysis for Rare Skeletal Disorders
The HSPG2 Gene Dyssegmental Dysplasia Silverman-Handmaker Type NGS Genetic DNA Test represents a breakthrough in genetic diagnostics for rare skeletal conditions. This advanced test utilizes cutting-edge next-generation sequencing technology to analyze the HSPG2 gene, which plays a critical role in skeletal development and connective tissue formation. Dyssegmental dysplasia, Silverman-Handmaker type is an extremely rare autosomal recessive disorder characterized by severe skeletal abnormalities that can significantly impact quality of life.
What This Test Measures and Detects
Our comprehensive NGS genetic test specifically targets the HSPG2 gene, which encodes perlecan – a crucial basement membrane protein essential for proper skeletal development. The test identifies:
- Pathogenic variants and mutations in the HSPG2 gene
- Single nucleotide polymorphisms (SNPs) affecting protein function
- Insertions, deletions, and frameshift mutations
- Compound heterozygous mutations in autosomal recessive inheritance
- Genetic markers associated with disease severity and progression
Who Should Consider This Genetic Test
This specialized genetic test is recommended for individuals presenting with:
- Family history of skeletal dysplasia or unexplained bone abnormalities
- Infants or children with disproportionate short stature
- Characteristic facial features including prominent forehead and flat nasal bridge
- Radiographic evidence of vertebral segmentation defects
- Multiple joint contractures and limited mobility
- Respiratory complications due to thoracic cage abnormalities
- Couples with previous affected children planning future pregnancies
Clinical Benefits of Genetic Testing
Undergoing the HSPG2 genetic test provides numerous clinical advantages:
- Accurate Diagnosis: Confirms or rules out Silverman-Handmaker dysplasia with precision
- Family Planning Guidance: Enables informed reproductive decisions for at-risk couples
- Personalized Management: Guides appropriate medical interventions and surveillance
- Prognostic Information: Helps predict disease progression and potential complications
- Genetic Counseling: Provides comprehensive risk assessment for family members
- Research Contribution: Advances understanding of rare genetic disorders
Understanding Your Test Results
Our genetic specialists provide detailed interpretation of your results:
- Positive Result: Indicates identified pathogenic mutations in HSPG2 gene, confirming diagnosis
- Negative Result: Suggests absence of detectable mutations, though clinical correlation is essential
- Variant of Uncertain Significance: Requires additional family studies and clinical correlation
- Carrier Status: Identifies individuals with single mutation who may pass condition to offspring
All results include comprehensive genetic counseling to ensure proper understanding and appropriate next steps.
Test Pricing and Details
| Test Component | Details |
|---|---|
| Test Name | HSPG2 Gene Dyssegmental Dysplasia Silverman-Handmaker Type 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 |
| Testing Method | Next-Generation Sequencing (NGS) Technology |
Nationwide Testing Availability
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, San Jose, and many more. Our network of certified genetic counselors and medical professionals ensures accessible, high-quality care regardless of your location.
Pre-Test Requirements
To ensure optimal testing outcomes, we recommend:
- Complete clinical history documentation of the patient
- Genetic counseling session to create detailed family pedigree
- Review of previous imaging studies and medical records
- Discussion of testing implications and potential outcomes
Take Control of Your Genetic Health Today
Don’t let uncertainty about genetic conditions affect your family’s future. Our HSPG2 genetic test provides the clarity and confidence you need for informed healthcare decisions. With our discounted price of $500 USD and comprehensive genetic counseling support, you can access world-class genetic testing without financial burden.
Ready to schedule your genetic test? Contact our genetic specialists today at +1(267) 388-9828 or book your appointment online. Our team is available to answer your questions and guide you through the testing process with compassion and expertise.
