COL2A1 Gene Platyspondylic Skeletal Dysplasia Torrance Type NGS Genetic DNA Test
Comprehensive Genetic Analysis for Rare Skeletal Disorders
The COL2A1 Gene Platyspondylic Skeletal Dysplasia Torrance Type NGS Genetic DNA Test represents a breakthrough in genetic diagnostics for rare skeletal conditions. This advanced test utilizes Next-Generation Sequencing (NGS) technology to thoroughly analyze the COL2A1 gene, which plays a critical role in collagen formation and skeletal development. Platyspondylic skeletal dysplasia, Torrance type is an extremely rare genetic disorder characterized by abnormal bone growth, flattened vertebrae (platyspondyly), and distinctive skeletal features that can significantly impact quality of life.
What This Test Measures and Detects
Our comprehensive NGS genetic test specifically targets the COL2A1 gene to identify pathogenic variants responsible for Torrance type platyspondylic skeletal dysplasia. The test examines:
- Complete sequencing of the COL2A1 gene coding regions
- Detection of point mutations, insertions, and deletions
- Identification of pathogenic variants affecting collagen type II alpha 1 chain production
- Analysis of genetic changes impacting skeletal development and bone formation
- Comprehensive variant interpretation with clinical correlation
Who Should Consider This Genetic Test
This specialized genetic test is recommended for individuals presenting with:
- Unexplained short stature with disproportionate features
- Family history of skeletal dysplasia or bone development disorders
- Radiographic evidence of platyspondyly (flattened vertebrae)
- Abnormal skeletal development in infancy or childhood
- Characteristic facial features associated with collagen disorders
- Joint hypermobility or early-onset osteoarthritis
- Ocular abnormalities including myopia or retinal detachment
- Hearing loss potentially related to collagen defects
Clinical Benefits of Genetic Testing
Undergoing the COL2A1 genetic test provides numerous clinical advantages:
- Accurate Diagnosis: Provides definitive molecular diagnosis for ambiguous clinical presentations
- Family Planning: Enables informed reproductive decisions and genetic counseling
- Treatment Guidance: Helps tailor appropriate medical management and interventions
- Prognostic Information: Offers insights into disease progression and potential complications
- Early Intervention: Facilitates timely orthopedic and rehabilitation services
- Psychological Relief: Reduces diagnostic uncertainty and provides closure for families
Understanding Your Test Results
Our comprehensive genetic report provides clear, actionable information:
- Positive Result: Identifies a pathogenic variant in the COL2A1 gene, confirming diagnosis and enabling targeted management
- Negative Result: No pathogenic variants detected, though clinical correlation remains essential
- Variant of Uncertain Significance: Identifies genetic changes requiring further clinical interpretation
- Carrier Status: Determines inheritance patterns and recurrence risks for family members
All results include detailed interpretation by our board-certified genetic counselors and clinical geneticists, ensuring you receive comprehensive guidance for next steps.
Test Pricing and Information
| Test Component | Details |
|---|---|
| Test Name | COL2A1 Gene Platyspondylic Skeletal Dysplasia Torrance Type 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:
- Complete clinical history of the patient undergoing testing
- Genetic counseling session to create detailed family pedigree
- Documentation of affected family members with similar symptoms
- Radiographic studies and previous diagnostic evaluations
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. Our network of certified genetic testing facilities ensures accessible, reliable service regardless of your location.
Take the Next Step Toward Genetic Clarity
Don’t let diagnostic uncertainty delay proper care. Our COL2A1 genetic test provides the definitive answers you need for effective management of skeletal dysplasia. With our discounted price of only $500 USD, advanced genetic testing is more accessible than ever.
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 every step of the testing process and help you understand your results with compassion and expertise.
Take control of your genetic health journey with the precision and reliability of NGS technology from General Genetics Corporation – your trusted partner in advanced genetic diagnostics.
