COMP Gene Pseudoachondroplasia NGS Genetic DNA Test
Comprehensive Genetic Analysis for Skeletal Dysplasia
The COMP Gene Pseudoachondroplasia NGS Genetic DNA Test represents a cutting-edge diagnostic approach for identifying genetic mutations associated with pseudoachondroplasia, a rare inherited skeletal disorder. This sophisticated genetic analysis utilizes Next-Generation Sequencing (NGS) technology to examine the COMP gene, which encodes cartilage oligomeric matrix protein – a crucial component in cartilage development and maintenance. Early and accurate diagnosis through this test enables healthcare providers to implement appropriate management strategies and provide comprehensive care for affected individuals.
What Does This Test Measure and Detect?
This advanced genetic test specifically targets the COMP gene located on chromosome 19p13.1, analyzing it for pathogenic variants that disrupt normal cartilage formation. The test detects:
- Point mutations affecting the calcium-binding domains of COMP protein
- Frameshift mutations leading to truncated protein production
- Missense mutations altering protein structure and function
- Deletions and insertions affecting gene integrity
- Various genetic variants associated with pseudoachondroplasia spectrum disorders
Who Should Consider This Genetic Test?
This test is recommended for individuals presenting with clinical features suggestive of pseudoachondroplasia or related skeletal conditions:
- Children showing disproportionate short stature with normal facial features
- Individuals with short limbs and normal trunk length
- Patients experiencing joint laxity or hypermobility
- Those with early-onset osteoarthritis symptoms
- Individuals displaying characteristic skeletal abnormalities on radiographs
- Family members of diagnosed pseudoachondroplasia cases
- Couples with family history planning pregnancy
Significant Benefits of Genetic Testing
Undergoing the COMP Gene Pseudoachondroplasia NGS Genetic DNA Test offers numerous advantages:
- Accurate Diagnosis: Provides definitive confirmation of pseudoachondroplasia, distinguishing it from other skeletal dysplasias
- Personalized Treatment Planning: Enables targeted interventions and management strategies
- Family Planning Guidance: Offers crucial information for reproductive decisions and genetic counseling
- Early Intervention: Facilitates timely implementation of supportive therapies and monitoring
- Comprehensive Care: Supports multidisciplinary approach involving orthopedic specialists, geneticists, and rehabilitation experts
Understanding Your Test Results
Our comprehensive genetic report provides detailed interpretation of your results:
- Positive Result: Indicates presence of pathogenic COMP gene mutation, confirming pseudoachondroplasia diagnosis
- Negative Result: Suggests absence of detectable mutations in the COMP gene, though clinical correlation remains essential
- Variant of Uncertain Significance: Identifies genetic changes with unclear clinical implications requiring further evaluation
- Carrier Status: Determines inheritance patterns and recurrence risks for family members
All results are accompanied by detailed explanations and recommendations from our certified genetic counselors.
Test Information and Pricing
| Test Component | Details |
|---|---|
| Test Name | COMP Gene Pseudoachondroplasia 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 |
Pre-Test Requirements and Preparation
To ensure optimal testing outcomes, we recommend:
- Comprehensive clinical history documentation
- Genetic counseling session with our certified specialists
- Development of detailed family pedigree chart
- Review of previous diagnostic imaging and laboratory results
- Discussion of testing implications and potential outcomes
Nationwide Accessibility
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 collection centers ensures easy access to this essential genetic testing service.
Take the Next Step Toward Genetic Clarity
Don’t let uncertainty about skeletal dysplasia symptoms affect your quality of life. Our COMP Gene Pseudoachondroplasia NGS Genetic DNA Test provides the definitive answers you need for informed healthcare decisions. With our limited-time discount pricing at $500 USD (regularly $700 USD), now is the perfect opportunity to gain valuable genetic insights.
Schedule your genetic testing appointment today by calling our dedicated patient care line at +1(267) 388-9828 or book online through our secure portal. Our genetic specialists are ready to guide you through every step of the testing process and provide comprehensive support for your genetic health journey.
