COL5A2 Gene Ehlers-Danlos Syndrome Type 1/2 NGS Genetic DNA Test
Comprehensive Genetic Analysis for Connective Tissue Disorders
The COL5A2 Gene Ehlers-Danlos Syndrome Type 1/2 NGS Genetic DNA Test represents a breakthrough in genetic diagnostics for connective tissue disorders. This advanced testing methodology provides crucial insights into the genetic basis of classical Ehlers-Danlos syndrome, enabling accurate diagnosis and personalized treatment strategies for affected individuals and families.
What This Test Measures and Detects
This sophisticated genetic test specifically analyzes the COL5A2 gene using Next-Generation Sequencing technology to identify pathogenic variants associated with classical Ehlers-Danlos syndrome types 1 and 2. The test examines:
- Complete coding regions of the COL5A2 gene
- Exon-intron boundaries for splice site mutations
- Point mutations, insertions, and deletions
- Variants affecting collagen V alpha-2 chain production
- Genetic alterations impacting connective tissue integrity
Who Should Consider This Genetic Test
This test is recommended for individuals presenting with symptoms suggestive of classical Ehlers-Danlos syndrome, including:
- Hyperextensible and fragile skin with abnormal scarring
- Joint hypermobility and recurrent dislocations
- Family history of connective tissue disorders
- Unexplained easy bruising and tissue fragility
- Delayed wound healing with atrophic scarring
- Musculoskeletal pain and early-onset osteoarthritis
- Suspected collagen production abnormalities
Clinical Benefits of Genetic Testing
Undergoing the COL5A2 genetic test provides numerous clinical advantages:
- Accurate Diagnosis: Confirms or rules out classical Ehlers-Danlos syndrome
- Family Planning: Enables informed reproductive decisions
- Personalized Treatment: Guides targeted therapeutic interventions
- Proactive Management: Facilitates early intervention strategies
- Genetic Counseling: Provides basis for comprehensive family risk assessment
- Research Contribution: Advances understanding of connective tissue disorders
Understanding Your Test Results
Our comprehensive genetic report provides detailed interpretation of your results:
- Positive Result: Indicates presence of pathogenic COL5A2 variant, confirming classical Ehlers-Danlos syndrome diagnosis
- Negative Result: Suggests absence of detectable COL5A2 mutations in tested regions
- Variant of Uncertain Significance: Identifies genetic changes requiring further clinical correlation
- Carrier Status: Determines inheritance patterns for family members
All results include detailed clinical implications and recommendations for follow-up care with appropriate specialists.
Test Pricing and Availability
| Test Name | Discount Price | Regular Price |
|---|---|---|
| COL5A2 Gene Ehlers-Danlos Syndrome Type 1/2 NGS Genetic DNA Test | $500 USD | $700 USD |
Nationwide Testing Availability
We provide comprehensive genetic testing services across the United States with convenient locations in all major metropolitan areas including New York, Los Angeles, Chicago, Houston, Phoenix, Philadelphia, San Antonio, San Diego, Dallas, San Jose, and many other cities. Our network of certified collection centers ensures accessible testing for patients nationwide.
Sample Collection and Processing
This test requires one of the following sample types:
- Blood sample collected by certified phlebotomist
- Extracted DNA meeting quality specifications
- One drop of blood on FTA card for convenient collection
Turnaround time for results is typically 3 to 4 weeks from sample receipt at our CLIA-certified laboratory.
Pre-Test Requirements
Before testing, we recommend:
- Comprehensive clinical history documentation
- Genetic counseling session with certified genetic counselor
- Development of detailed pedigree chart documenting family history
- Discussion of potential implications and limitations of testing
Take Control of Your Genetic Health Today
Don’t let uncertainty about connective tissue disorders affect your quality of life. Our COL5A2 genetic test provides the clarity you need for informed healthcare decisions. With advanced NGS technology and expert interpretation, you’ll receive comprehensive insights into your genetic profile.
Call or WhatsApp us today at +1(267) 388-9828 to schedule your genetic test consultation and take the first step toward understanding your connective tissue health.
Our team of genetic specialists is ready to guide you through the testing process, answer your questions, and provide the support you need throughout your genetic health journey.
