ADAMTS2 Gene Ehlers-Danlos Syndrome Type 7C NGS Genetic DNA Test
Understanding Ehlers-Danlos Syndrome Type 7C
Ehlers-Danlos Syndrome Type 7C, also known as dermatosparaxis EDS, is a rare genetic disorder affecting connective tissues throughout the body. This condition results from mutations in the ADAMTS2 gene, which plays a critical role in collagen processing and maturation. The ADAMTS2 Gene Ehlers-Danlos Syndrome Type 7C NGS Genetic DNA Test provides definitive diagnosis through advanced genetic analysis, helping patients and healthcare providers understand the underlying genetic causes of their symptoms.
What This Test Measures and Detects
Our comprehensive NGS genetic test specifically targets the ADAMTS2 gene to identify pathogenic variants associated with dermatosparaxis Ehlers-Danlos syndrome. The test examines:
- Point mutations in the ADAMTS2 gene coding regions
- Small insertions and deletions affecting gene function
- Genetic variants that disrupt collagen processing
- Inheritance patterns for family genetic counseling
Who Should Consider This Genetic Test
This test is recommended for individuals experiencing symptoms consistent with dermatosparaxis EDS, including:
- Extremely fragile and sagging skin that bruises easily
- Severe joint hypermobility and instability
- Delayed wound healing with atrophic scarring
- Characteristic facial features including epicanthal folds
- Family history of connective tissue disorders
- Unexplained skeletal abnormalities or growth delays
Clinical Benefits of Genetic Testing
Undergoing the ADAMTS2 genetic test provides numerous clinical advantages:
- Accurate Diagnosis: Confirms or rules out dermatosparaxis EDS with genetic certainty
- Personalized Treatment: Guides appropriate management strategies for skin and joint care
- Family Planning: Informs reproductive decisions and genetic counseling
- Early Intervention: Enables proactive management of potential complications
- Peace of Mind: Provides clarity for patients with unexplained symptoms
Understanding Your Test Results
Your genetic test results will be carefully interpreted by our expert genetic counselors and physicians:
- Positive Result: Indicates the presence of ADAMTS2 gene mutations consistent with dermatosparaxis EDS diagnosis
- Negative Result: Suggests that ADAMTS2 mutations are not detected, though other genetic causes may need investigation
- Variant of Uncertain Significance: Identifies genetic changes whose clinical significance requires further evaluation
- Carrier Status: Determines if you carry one copy of a mutated gene that could be passed to children
Test Information and Pricing
| Test Component | Details |
|---|---|
| Test Name | ADAMTS2 Gene Ehlers-Danlos Syndrome Type 7C NGS Genetic DNA Test |
| Regular Price | $700 USD |
| Discount Price | $500 USD |
| Turnaround Time | 3 to 4 Weeks |
| Sample Type | Blood |
| Testing Method | Next-Generation Sequencing (NGS) |
Pre-Test Requirements
Before scheduling your test, please ensure you have:
- Complete clinical history documentation
- Genetic counseling session scheduled
- Family pedigree chart prepared
- Referral from your healthcare provider (if required)
Nationwide Testing Availability
We have testing facilities conveniently located across the United States, including major metropolitan areas such as New York, Los Angeles, Chicago, Houston, Phoenix, and Philadelphia. Our state-of-the-art laboratories ensure consistent, high-quality genetic testing services nationwide.
Take the Next Step Toward Genetic Clarity
If you or a loved one are experiencing symptoms of dermatosparaxis Ehlers-Danlos syndrome, don’t wait to get answers. Our ADAMTS2 genetic test provides the definitive information needed for proper diagnosis and management. Contact our genetic specialists today to schedule your test and begin your journey toward understanding your genetic health.
Call or WhatsApp us at +1(267) 388-9828 to book your ADAMTS2 Gene Ehlers-Danlos Syndrome Type 7C NGS Genetic DNA Test today!
