MATN3 Gene Epiphyseal Dysplasia Multiple Type 5 NGS Genetic DNA Test
Comprehensive Genetic Analysis for Skeletal Disorders
The MATN3 Gene Epiphyseal Dysplasia Multiple Type 5 NGS Genetic DNA Test represents a breakthrough in molecular diagnostics for skeletal development disorders. This advanced genetic screening utilizes cutting-edge Next-Generation Sequencing technology to identify mutations in the MATN3 gene, which plays a crucial role in cartilage formation and bone development. Multiple epiphyseal dysplasia type 5 is a rare genetic condition affecting the growth plates (epiphyses) of bones, leading to joint abnormalities and skeletal deformities that can significantly impact mobility and quality of life.
What This Test Measures and Detects
Our comprehensive NGS-based genetic test specifically targets the MATN3 gene located on chromosome 2p24-p23, which encodes matrilin-3, an essential cartilage extracellular matrix protein. The test identifies:
- Point mutations and single nucleotide variants in the MATN3 gene
- Insertions and deletions affecting gene function
- Missense mutations that alter protein structure
- Genetic variations associated with autosomal dominant inheritance patterns
- Specific mutations known to cause multiple epiphyseal dysplasia type 5
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
- Abnormal gait or walking difficulties in childhood
- Short stature with disproportionate limb development
- Family history of skeletal abnormalities or joint disorders
- Radiographic evidence of epiphyseal dysplasia
- Progressive osteoarthritis in young adulthood
- Delayed bone age or abnormal bone development
- Multiple joint involvement without inflammatory markers
Clinical Benefits of MATN3 Genetic Testing
Undergoing the MATN3 Gene Epiphyseal Dysplasia Multiple Type 5 NGS Genetic DNA Test provides numerous clinical advantages:
- Accurate Diagnosis: Confirms or rules out multiple epiphyseal dysplasia type 5 with high precision
- Family Planning Guidance: Enables informed reproductive decisions for affected families
- Personalized Treatment: Guides appropriate orthopedic interventions and management strategies
- Early Intervention: Facilitates timely physical therapy and joint preservation approaches
- Genetic Counseling: Provides basis for comprehensive family risk assessment
- Differential Diagnosis: Helps distinguish from other skeletal dysplasias with similar presentations
Understanding Your Test Results
Our genetic specialists provide comprehensive interpretation of your MATN3 gene analysis:
- Positive Result: Indicates the presence of pathogenic MATN3 mutations consistent with multiple epiphyseal dysplasia type 5 diagnosis
- Negative Result: Suggests absence of known disease-causing mutations in the MATN3 gene
- Variant of Uncertain Significance: Identifies genetic changes with unknown clinical implications requiring further evaluation
- Carrier Status: Determines inheritance patterns for family members
All results include detailed explanations and recommendations for next steps, including consultation with orthopedic specialists and genetic counselors.
Test Pricing and Availability
| Test Component | Price (USD) |
|---|---|
| Discount Price | $500 |
| Regular Price | $700 |
Nationwide Testing Availability
We have conveniently located branches across the United States, including major metropolitan areas such as New York, Los Angeles, Chicago, Houston, Phoenix, Philadelphia, San Antonio, San Diego, Dallas, and San Jose. Our state-of-the-art genetic testing facilities ensure consistent, high-quality results regardless of location.
Take Control of Your Genetic Health Today
Don’t let uncertainty about skeletal abnormalities affect your quality of life. Our MATN3 Gene Epiphyseal Dysplasia Multiple Type 5 NGS Genetic DNA Test provides the clarity you need for proper diagnosis and management. With rapid turnaround times of 3-4 weeks and simple sample collection (blood, extracted DNA, or FTA card), obtaining definitive genetic answers has never been more accessible.
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.
