COL9A3 Gene Epiphyseal Dysplasia Multiple Type 3 NGS Genetic DNA Test
Comprehensive Genetic Analysis for Skeletal Development Disorders
The COL9A3 Gene Epiphyseal Dysplasia Multiple Type 3 NGS Genetic DNA Test represents a breakthrough in molecular diagnostics for skeletal disorders. This advanced genetic test specifically targets mutations in the COL9A3 gene, which plays a critical role in cartilage formation and bone development. Epiphyseal dysplasia multiple type 3 is a rare genetic condition affecting the growth plates (epiphyses) of bones, leading to skeletal abnormalities and joint problems.
What This Test Measures and Detects
Our state-of-the-art NGS (Next-Generation Sequencing) technology comprehensively analyzes the COL9A3 gene to identify:
- Point mutations affecting collagen type IX alpha 3 chain production
- Missense mutations disrupting cartilage matrix formation
- Frameshift mutations leading to abnormal protein structure
- Deletions and insertions affecting gene function
- Pathogenic variants associated with skeletal dysplasia
The test provides complete sequencing coverage of the COL9A3 gene, ensuring high detection rates for both common and rare mutations responsible for multiple epiphyseal dysplasia type 3.
Who Should Consider This Genetic Test
This specialized genetic test is recommended for individuals presenting with:
- Early-onset joint pain and stiffness, particularly in hips and knees
- Short stature or disproportionate body proportions
- Abnormal gait or walking difficulties in childhood
- Family history of skeletal dysplasia or bone disorders
- Radiographic evidence of epiphyseal abnormalities
- Early development of osteoarthritis before age 40
- Multiple joint involvement without inflammatory markers
Significant Benefits of Genetic Testing
Undergoing the COL9A3 genetic test provides numerous advantages:
- Accurate Diagnosis: Confirms or rules out multiple epiphyseal dysplasia type 3
- Personalized Treatment: Enables targeted management strategies for skeletal symptoms
- Family Planning: Provides crucial information for genetic counseling and reproductive decisions
- Early Intervention: Allows for proactive management of joint health and mobility
- Differential Diagnosis: Helps distinguish from other skeletal dysplasias
- Prognostic Information: Offers insights into disease progression and potential complications
Understanding Your Test Results
Our comprehensive genetic counseling service helps interpret your results:
- Positive Result: Indicates presence of pathogenic COL9A3 mutation confirming diagnosis
- Negative Result: Suggests alternative causes for symptoms should be investigated
- Variant of Uncertain Significance: Requires additional family studies for interpretation
- Carrier Status: Important information for family members and future generations
All results are accompanied by detailed explanations and recommendations from our certified genetic counselors.
Test Pricing and Details
| Test Component | Details | Price (USD) |
|---|---|---|
| Test Name | COL9A3 Gene Epiphyseal Dysplasia Multiple Type 3 NGS Genetic DNA Test | – |
| Discount Price | Limited time offer | $500 |
| Regular Price | Standard pricing | $700 |
| Turnaround Time | Comprehensive analysis period | 3-4 Weeks |
| Sample Type | Multiple collection options | Blood, Extracted DNA, or Blood on FTA Card |
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, Austin, Jacksonville, Fort Worth, Columbus, San Francisco, and many more. Our network of certified collection centers ensures accessible testing nationwide.
Take Control of Your Genetic Health Today
Don’t let uncertainty about skeletal symptoms affect your quality of life. Our COL9A3 genetic test provides definitive answers and empowers you with knowledge for better health management. Early diagnosis can significantly improve treatment outcomes and quality of life.
Call or WhatsApp us today at +1(267) 388-9828 to schedule your genetic counseling session and book your test. Our genetic specialists are ready to guide you through the testing process and help you understand your results.
Take the first step toward understanding your genetic health and making informed decisions about your skeletal wellness. Contact us now to begin your journey to accurate diagnosis and personalized care.
