COL2A1 Gene Kniest Dysplasia NGS Genetic DNA Test
Comprehensive Genetic Analysis for Skeletal Disorders
The COL2A1 Gene Kniest Dysplasia NGS Genetic DNA Test represents a cutting-edge approach to diagnosing rare skeletal conditions through advanced genetic technology. This specialized test focuses on identifying mutations in the COL2A1 gene, which plays a critical role in collagen type II production – the primary structural protein in cartilage and vitreous humor of the eye. Kniest dysplasia, resulting from these genetic variations, manifests as a distinct form of skeletal dysplasia characterized by disproportionate short stature and specific skeletal abnormalities.
What Does This Test Measure and Detect?
Our comprehensive NGS genetic analysis specifically targets:
- Complete sequencing of the COL2A1 gene to identify pathogenic variants
- Detection of point mutations, insertions, and deletions affecting collagen production
- Analysis of genetic variations responsible for abnormal cartilage development
- Identification of specific mutations linked to Kniest dysplasia and related conditions
- Assessment of genetic markers associated with skeletal growth abnormalities
Who Should Consider This Genetic Test?
This advanced genetic analysis is recommended for individuals presenting with:
- Disproportionate short stature with shortened trunk and limbs
- Characteristic facial features including flattened midface and prominent eyes
- Joint stiffness and limited mobility, particularly in hips and knees
- Progressive spinal abnormalities and kyphoscoliosis
- Family history of skeletal dysplasia or collagen disorders
- Children with delayed motor development and walking difficulties
- Individuals with hearing loss and vision problems associated with skeletal issues
Significant Benefits of Genetic Testing
Undergoing the COL2A1 genetic test provides numerous advantages:
- Definitive Diagnosis: Confirms or rules out Kniest dysplasia with high accuracy
- Personalized Treatment: Enables tailored management strategies for skeletal complications
- Family Planning: Provides crucial information for genetic counseling and reproductive decisions
- Early Intervention: Facilitates timely orthopedic and rehabilitation interventions
- Comprehensive Care: Guides multidisciplinary approach involving orthopedics, ophthalmology, and audiology
- Prognostic Information: Helps predict disease progression and potential complications
Understanding Your Test Results
Our genetic specialists provide comprehensive interpretation of your results:
- Positive Result: Indicates presence of pathogenic COL2A1 mutation confirming Kniest dysplasia diagnosis
- Negative Result: Suggests absence of detectable mutations, though clinical correlation remains essential
- Variant of Uncertain Significance: Requires additional family studies and clinical correlation
- Carrier Status: Identifies individuals carrying the mutation without showing symptoms
All results include detailed genetic counseling to ensure complete understanding and appropriate next steps.
Test Pricing and Details
| Test Component | Details |
|---|---|
| Test Name | COL2A1 Gene Kniest Dysplasia 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
To ensure optimal testing outcomes, we recommend:
- Complete clinical history documentation of the patient
- Genetic counseling session to create detailed family pedigree
- Discussion of testing implications and potential outcomes
- Informed consent process for genetic testing
Nationwide Accessibility
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 consistent, high-quality care regardless of location.
Take the Next Step Toward Genetic Clarity
Don’t let uncertainty about skeletal abnormalities affect your quality of life. Our COL2A1 Gene Kniest Dysplasia NGS Genetic DNA Test provides the definitive answers you need for proper diagnosis and management. With our discounted price of $500 USD and comprehensive genetic counseling support, you can make informed decisions about your health journey.
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 genetic testing process and help you understand your results with compassion and expertise.
