COL1A1 Gene Ehlers-Danlos Syndrome Type 7A NGS Genetic DNA Test
Comprehensive Genetic Testing for Connective Tissue Disorders
The COL1A1 Gene Ehlers-Danlos Syndrome Type 7A NGS Genetic DNA Test represents a breakthrough in diagnostic precision for individuals affected by connective tissue disorders. This advanced genetic analysis utilizes Next-Generation Sequencing (NGS) technology to examine the COL1A1 gene, which encodes type I collagen—the most abundant protein in the human body and a critical component of skin, bones, tendons, and other connective tissues.
What Does This Test Detect?
This sophisticated genetic test specifically identifies mutations in the COL1A1 gene that are responsible for Ehlers-Danlos Syndrome Type 7A, also known as arthrochalasia EDS. The test examines:
- Point mutations affecting collagen structure
- Deletions and insertions in the COL1A1 gene
- Splice site mutations disrupting collagen production
- Genetic variants affecting collagen triple helix formation
Who Should Consider This Test?
This genetic test is recommended for individuals presenting with:
- Severe joint hypermobility and recurrent dislocations
- Congenital hip dislocation at birth
- Skin hyperextensibility with abnormal scarring
- Muscle hypotonia in infancy
- Family history of connective tissue disorders
- Unexplained joint pain and mobility issues
- Delayed motor development in childhood
Clinical Benefits of Genetic Testing
Undergoing the COL1A1 genetic test provides numerous advantages:
- Accurate Diagnosis: Confirms or rules out Ehlers-Danlos Syndrome Type 7A
- Personalized Treatment: Enables targeted management strategies
- Family Planning: Provides crucial information for genetic counseling
- Early Intervention: Facilitates proactive management of symptoms
- Differential Diagnosis: Helps distinguish from other EDS subtypes
Understanding Your Test Results
Your genetic test results will be carefully interpreted by our expert geneticists:
- Positive Result: Indicates a pathogenic mutation in the COL1A1 gene, confirming Ehlers-Danlos Syndrome Type 7A diagnosis
- Negative Result: Suggests no detectable mutation in the COL1A1 gene, though other genetic causes may need investigation
- Variant of Uncertain Significance: Identifies a genetic change whose clinical significance requires further evaluation
All results include comprehensive genetic counseling to ensure proper understanding and next steps.
Test Pricing Information
| Test Description | Price (USD) |
|---|---|
| COL1A1 Gene Ehlers-Danlos Syndrome Type 7A NGS Genetic DNA Test – Discount Price | $500 |
| COL1A1 Gene Ehlers-Danlos Syndrome Type 7A NGS Genetic DNA Test – Regular Price | $700 |
Nationwide Testing Availability
We have conveniently located branches across the United States, including major metropolitan areas such as New York, Los Angeles, Chicago, Houston, Phoenix, Philadelphia, San Antonio, San Diego, Dallas, San Jose, and many other cities. Our state-of-the-art facilities ensure consistent, high-quality testing services nationwide.
Take Control of Your Genetic Health Today
Don’t let uncertainty about your connective tissue health continue. Our COL1A1 genetic testing provides the clarity needed for proper diagnosis and management. With our discounted price of only $500 USD, advanced genetic testing is more accessible than ever.
Call or WhatsApp us now at +1(267) 388-9828 to schedule your genetic test appointment. Our genetic counselors are ready to answer your questions and help you take the next step toward understanding your genetic health.
Note: Turnaround time for results is 3-4 weeks. Sample types accepted include blood, extracted DNA, or one drop of blood on FTA card. Pre-test requirements include providing clinical history and participating in a genetic counseling session to create a family pedigree chart.
