PRG4 Gene Camptodactyly-Arthropathy-Coxa Vara-Pericarditis Syndrome NGS Genetic DNA Test
Comprehensive Genetic Testing for Rare Musculoskeletal and Cardiac Disorders
The PRG4 Gene Camptodactyly-Arthropathy-Coxa Vara-Pericarditis Syndrome NGS Genetic DNA Test represents a breakthrough in molecular diagnostics for rare genetic conditions affecting multiple body systems. This advanced genetic test specifically targets mutations in the PRG4 gene, which plays a critical role in joint lubrication and skeletal development. By utilizing cutting-edge Next-Generation Sequencing technology, our test provides unparalleled accuracy in identifying the genetic basis of this complex syndrome, enabling precise diagnosis and personalized treatment approaches.
What Does This Test Measure and Detect?
This comprehensive genetic analysis focuses on detecting pathogenic variants in the PRG4 gene, which encodes for lubricin – a crucial glycoprotein responsible for joint surface lubrication and cartilage protection. The test specifically identifies:
- Point mutations, insertions, and deletions in the PRG4 gene
- Pathogenic variants associated with camptodactyly (permanently bent fingers)
- Genetic markers linked to progressive arthropathy (joint disease)
- Mutations causing coxa vara (hip deformity)
- Genetic factors contributing to pericarditis (heart inflammation)
- Inheritance patterns for family risk assessment
Who Should Consider This Genetic Test?
This test is particularly recommended for individuals presenting with the following symptoms or clinical findings:
- Children or adults with congenital finger contractures (camptodactyly)
- Patients experiencing early-onset joint pain and swelling
- Individuals with hip abnormalities or walking difficulties
- Those with recurrent pericarditis or heart inflammation episodes
- Family members of individuals diagnosed with PRG4-related disorders
- Patients with unexplained musculoskeletal and cardiac symptoms
- Couples planning pregnancy with family history of similar conditions
Clinical Benefits of PRG4 Genetic Testing
Undergoing this genetic test provides numerous advantages for patients and healthcare providers:
- Accurate Diagnosis: Confirms or rules out PRG4-related syndrome with high precision
- Personalized Treatment: Enables targeted therapeutic interventions based on genetic findings
- Family Planning: Provides crucial information for genetic counseling and reproductive decisions
- Early Intervention: Facilitates proactive management of potential complications
- Differential Diagnosis: Helps distinguish from other similar genetic conditions
- Prognostic Information: Offers insights into disease progression and potential outcomes
Understanding Your Test Results
Our comprehensive genetic report provides detailed interpretation of your results:
- Positive Result: Indicates the presence of pathogenic PRG4 gene mutations, confirming the diagnosis and guiding specific management strategies
- Negative Result: Suggests that PRG4 mutations are not detected, though clinical correlation with symptoms remains important
- Variant of Uncertain Significance: Identifies genetic changes whose clinical significance requires further investigation
- Carrier Status: Determines if individuals carry one copy of the mutation without showing symptoms
All results are accompanied by detailed explanations and recommendations for next steps, including consultation with genetic specialists and appropriate medical follow-up.
Test Pricing and Availability
| Test Component | Price (USD) |
|---|---|
| Discount Price | $500 |
| Regular Price | $700 |
Turnaround Time: 3 to 4 Weeks
Sample Type: Blood, Extracted DNA, or One Drop Blood on FTA Card
Pre-Test Requirements
To ensure optimal testing accuracy, we recommend:
- Comprehensive clinical history documentation
- Genetic counseling session prior to testing
- Development of detailed family pedigree chart
- Discussion of testing implications with healthcare provider
Nationwide Testing Availability
We proudly serve patients across the United States with convenient testing locations in all major cities 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.
Take the Next Step Toward Genetic Clarity
Don’t let uncertainty about your genetic health prevent you from getting the answers you need. Our PRG4 Gene Camptodactyly-Arthropathy-Coxa Vara-Pericarditis Syndrome NGS Genetic DNA Test provides the definitive genetic information required for informed medical decisions and comprehensive care planning.
Call us today at +1(267) 388-9828 to schedule your genetic counseling session and book your test. Our dedicated team is ready to guide you through every step of the testing process and help you understand your genetic health with confidence and clarity.
