COMP Gene Epiphyseal Dysplasia Multiple Type 1 NGS Genetic DNA Test
Comprehensive Genetic Analysis for Bone Development Disorders
The COMP Gene Epiphyseal Dysplasia Multiple Type 1 NGS Genetic DNA Test represents a cutting-edge diagnostic approach for identifying genetic mutations associated with multiple epiphyseal dysplasia type 1 (MED1). This sophisticated genetic test utilizes Next-Generation Sequencing technology to provide comprehensive analysis of the COMP (Cartilage Oligomeric Matrix Protein) gene, which plays a critical role in cartilage development and skeletal formation.
What Does This Test Measure and Detect?
This advanced genetic test specifically targets and analyzes the COMP gene located on chromosome 19p13.1. The test detects:
- Pathogenic variants and mutations in the COMP gene
- Single nucleotide polymorphisms (SNPs) associated with MED1
- Insertions, deletions, and duplications affecting gene function
- Genetic markers that indicate inherited bone disorder susceptibility
- Specific mutation patterns that correlate with disease severity
The COMP gene encodes a crucial extracellular matrix protein essential for proper cartilage development and maintenance. Mutations in this gene disrupt normal cartilage formation, leading to the characteristic features of multiple epiphyseal dysplasia.
Who Should Consider This Genetic Test?
This test is particularly recommended for individuals experiencing:
- Early-onset joint pain and stiffness, especially in hips and knees
- Abnormal bone growth patterns during childhood development
- Family history of skeletal dysplasia or bone development disorders
- Short stature with disproportionate limb development
- Progressive joint degeneration beginning in childhood or adolescence
- Radiographic evidence of epiphyseal abnormalities
- Difficulty with physical activities due to joint limitations
- Previous inconclusive diagnostic results for skeletal disorders
Clinical Benefits of Genetic Testing
Undergoing the COMP Gene Epiphyseal Dysplasia Multiple Type 1 test provides numerous clinical advantages:
- Accurate Diagnosis: Confirms MED1 diagnosis with high precision, eliminating diagnostic uncertainty
- Personalized Treatment Planning: Enables targeted management strategies based on specific genetic findings
- Family Planning Guidance: Provides essential information for genetic counseling and reproductive decisions
- Early Intervention: Facilitates proactive management to minimize joint damage and complications
- Prognostic Information: Helps predict disease progression and potential complications
- Differential Diagnosis: Distinguishes MED1 from other skeletal dysplasias with similar presentations
Understanding Your Test Results
Your genetic test results will be carefully interpreted by our expert genetic counselors and medical specialists:
- Positive Result: Indicates the presence of pathogenic COMP gene mutations confirming MED1 diagnosis
- Negative Result: Suggests absence of known COMP mutations, though other genetic causes may need investigation
- Variant of Uncertain Significance: Identifies genetic changes with unclear clinical implications requiring further evaluation
- Carrier Status: May identify individuals carrying one copy of the mutation without clinical symptoms
All positive results include detailed interpretation of the specific mutation, inheritance patterns, and clinical implications. Our genetic counseling team provides comprehensive guidance on result implications for you and your family members.
Test Pricing and Details
| Test Component | Details |
|---|---|
| Test Name | COMP Gene Epiphyseal Dysplasia Multiple Type 1 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
Before scheduling your test, please ensure you have:
- Complete clinical history documenting symptoms and progression
- Genetic counseling session to create detailed family pedigree chart
- Previous diagnostic imaging and laboratory results if available
- Information about affected family members and their symptoms
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 cities. Our network of certified collection centers ensures accessible testing regardless of your location.
Take Control of Your Genetic Health Today
Don’t let uncertainty about bone development disorders affect your quality of life. The COMP Gene Epiphyseal Dysplasia Multiple Type 1 NGS Genetic DNA Test provides the clarity you need for informed medical decisions and personalized care planning.
Call or WhatsApp us today at +1(267) 388-9828 to schedule your genetic test consultation and take the first step toward definitive diagnosis and targeted treatment.
Our experienced genetic counselors and medical specialists are ready to guide you through the testing process, answer your questions, and provide the comprehensive support you deserve. Book your appointment now and benefit from our special discounted pricing of only $500 USD.
