WISP3 Gene Arthropathy Progressive Pseudorheumatoid of Childhood NGS Genetic DNA Test
Understanding Progressive Pseudorheumatoid Arthropathy of Childhood
Progressive pseudorheumatoid arthropathy of childhood (PPAC), also known as spondyloepiphyseal dysplasia tarda with progressive arthropathy, is a rare genetic disorder that primarily affects joint development and function. This condition is caused by mutations in the WISP3 gene, which plays a crucial role in bone and cartilage development. Unlike rheumatoid arthritis, PPAC is not an autoimmune condition but rather a genetic disorder that manifests during early childhood with progressive joint stiffness and pain.
What Does the WISP3 Gene Test Detect?
Our advanced NGS Genetic DNA Test specifically analyzes the WISP3 gene to identify pathogenic mutations responsible for progressive pseudorheumatoid arthropathy of childhood. The test examines:
- Complete sequencing of the WISP3 gene coding regions
- Detection of point mutations, insertions, and deletions
- Analysis of splice site variants affecting gene function
- Comprehensive coverage of all known pathogenic variants
Clinical Significance of WISP3 Gene Mutations
The WISP3 gene encodes a protein involved in bone morphogenesis and cartilage maintenance. Mutations in this gene disrupt normal skeletal development, leading to the characteristic features of PPAC including progressive joint stiffness, pain, and abnormal bone growth patterns.
Who Should Consider This Genetic Test?
This test is recommended for individuals presenting with the following symptoms or family history:
- Children aged 3-8 years showing progressive joint stiffness
- Family history of progressive joint disorders in childhood
- Unexplained joint pain and swelling in young children
- Abnormal gait or walking difficulties developing in early childhood
- Progressive limitation of joint movement without inflammatory markers
- Radiographic evidence of epiphyseal dysplasia
Early Diagnosis Benefits
Early genetic testing allows for timely intervention and appropriate management strategies, potentially improving long-term outcomes and quality of life for affected children.
Key Benefits of WISP3 Genetic Testing
- Accurate Diagnosis: Provides definitive diagnosis distinguishing PPAC from other childhood joint disorders
- Family Planning: Enables informed reproductive decisions for carrier parents
- Personalized Management: Guides appropriate treatment and monitoring strategies
- Genetic Counseling: Supports families in understanding inheritance patterns
- Early Intervention: Facilitates timely physical therapy and supportive care
Understanding Your Test Results
Our comprehensive genetic counseling service helps you interpret your results:
Positive Result
A positive result indicates the presence of pathogenic WISP3 gene mutations confirming the diagnosis of progressive pseudorheumatoid arthropathy of childhood. This enables:
- Implementation of appropriate management strategies
- Regular monitoring of joint function
- Physical therapy planning
- Family member screening recommendations
Negative Result
A negative result suggests that WISP3 gene mutations are not detected, indicating the need to investigate other potential causes of joint symptoms.
Variant of Uncertain Significance
In some cases, genetic variants of uncertain significance may be identified, requiring additional family studies and clinical correlation.
Test Pricing and Details
| Test Component | Price (USD) |
|---|---|
| Discount Price | $500 |
| Regular Price | $700 |
Additional Test Information
- Turnaround Time: 3 to 4 Weeks
- Sample Type: Blood, Extracted DNA, or One Drop Blood on FTA Card
- Specialties: Genetics, Dermatology, Osteology, Immunology
- Technology: Next-Generation Sequencing (NGS)
Pre-Test Requirements
Before testing, we recommend:
- Complete clinical history documentation
- Genetic counseling session to create family pedigree chart
- Discussion of testing implications and potential outcomes
- Informed consent process
Nationwide Testing Availability
We have diagnostic centers across the United States, serving patients in all 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.
Take the Next Step Toward Diagnosis
If you suspect progressive pseudorheumatoid arthropathy of childhood in your child or have a family history of this condition, our WISP3 genetic test provides the answers you need. Early diagnosis can significantly impact treatment outcomes and quality of life.
Call or WhatsApp us today at +1(267) 388-9828 to schedule your genetic counseling session and testing appointment. Our genetic specialists are available to answer your questions and guide you through the testing process.
Don’t let uncertainty about your child’s joint health continue. Book your WISP3 Gene Arthropathy Progressive Pseudorheumatoid of Childhood NGS Genetic DNA Test today and take the first step toward accurate diagnosis and appropriate management.
