COL2A1 Gene SMED Strudwick Type NGS Genetic DNA Test
Comprehensive Genetic Testing for Skeletal Dysplasia
The COL2A1 Gene SMED Strudwick Type NGS Genetic DNA Test represents a breakthrough in genetic diagnostics for skeletal disorders. This specialized test utilizes cutting-edge Next-Generation Sequencing (NGS) technology to analyze the COL2A1 gene, which plays a critical role in collagen formation and skeletal development. Spondyloepimetaphyseal dysplasia (SMED) Strudwick type is a rare genetic condition affecting bone growth and development, and this test provides definitive molecular diagnosis for affected individuals and families.
What Does This Test Measure?
This comprehensive genetic analysis specifically targets the COL2A1 gene to identify pathogenic variants associated with SMED Strudwick type. The test detects:
- Point mutations in the COL2A1 gene coding regions
- Small insertions and deletions affecting collagen production
- Missense mutations that disrupt collagen type II structure
- Genetic variants impacting skeletal development pathways
- Inheritance patterns for family risk assessment
Who Should Consider This Test?
This genetic test is recommended for individuals presenting with specific clinical features suggestive of skeletal dysplasia:
- Children with disproportionate short stature and skeletal abnormalities
- Individuals with characteristic facial features including flattened midface
- Patients experiencing joint pain, stiffness, or limited mobility
- Those with radiographic evidence of spinal and metaphyseal abnormalities
- Family members of individuals diagnosed with COL2A1-related disorders
- Couples with family history of skeletal dysplasia planning pregnancy
Clinical Benefits of Genetic Testing
Undergoing the COL2A1 Gene SMED Strudwick Type NGS Genetic DNA Test provides numerous advantages:
- Accurate Diagnosis: Confirms or rules out SMED Strudwick type with molecular precision
- Treatment Guidance: Informs appropriate medical management and intervention strategies
- Family Planning: Provides essential information for reproductive decision-making
- Prognostic Insight: Helps predict disease progression and potential complications
- Genetic Counseling: Enables targeted counseling for at-risk family members
- Research Contribution: Advances understanding of rare skeletal disorders
Understanding Your Test Results
Your genetic test results will be carefully interpreted by our board-certified genetic specialists:
- Positive Result: Indicates the presence of a pathogenic COL2A1 variant consistent with SMED Strudwick type diagnosis
- Negative Result: Suggests absence of detectable COL2A1 mutations, though clinical correlation remains essential
- Variant of Uncertain Significance: Identifies genetic changes requiring further clinical evaluation
- Carrier Status: Determines inheritance patterns and recurrence risks for family members
All results include comprehensive genetic counseling to ensure proper understanding and appropriate next steps.
Test Details and Pricing
| Test Component | Details |
|---|---|
| Test Name | COL2A1 Gene SMED Strudwick 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 you have:
- Complete clinical history of the patient undergoing testing
- Scheduled genetic counseling session to create detailed family pedigree
- Recent clinical evaluations and imaging studies when available
- Insurance information and physician referral if required
Nationwide Testing Availability
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 state-of-the-art laboratories ensure consistent, high-quality results regardless of collection location.
Take the Next Step Toward Genetic Clarity
Don’t let uncertainty about skeletal dysplasia affect your family’s future. Our expert genetic counselors and medical specialists are ready to guide you through the testing process and provide the answers you need for informed healthcare decisions.
Call or WhatsApp us today at +1(267) 388-9828 to schedule your COL2A1 Gene SMED Strudwick Type NGS Genetic DNA Test and take control of your genetic health journey.
