DSE Gene Ehlers-Danlos Syndrome Musculocontractural Type 2 NGS Genetic DNA Test
Comprehensive Genetic Analysis for Musculocontractural Ehlers-Danlos Syndrome
The DSE Gene Ehlers-Danlos Syndrome Musculocontractural Type 2 NGS Genetic DNA Test represents a breakthrough in genetic diagnostics for rare connective tissue disorders. This advanced next-generation sequencing test specifically targets mutations in the DSE gene, which encodes dermatan sulfate epimerase—a crucial enzyme involved in the biosynthesis of dermatan sulfate, an essential component of connective tissues throughout the body.
What This Test Measures and Detects
Our comprehensive genetic analysis utilizes cutting-edge NGS technology to identify pathogenic variants in the DSE gene that cause musculocontractural Ehlers-Danlos syndrome type 2. The test specifically examines:
- Point mutations, insertions, and deletions in the DSE gene coding regions
- Copy number variations affecting dermatan sulfate epimerase function
- Genetic variants that disrupt proper connective tissue formation
- Inheritance patterns for family genetic counseling purposes
Who Should Consider This Genetic Test
This specialized genetic test is recommended for individuals presenting with symptoms suggestive of musculocontractural Ehlers-Danlos syndrome, including:
- Congenital multiple contractures affecting joints and mobility
- Characteristic facial features including downslanting palpebral fissures
- Progressive spinal deformities such as kyphoscoliosis
- Skin hyperextensibility with easy bruising and scarring
- Joint hypermobility with recurrent dislocations
- Family history of connective tissue disorders
- Unexplained musculoskeletal abnormalities from birth
Significant Benefits of Genetic Testing
Undergoing the DSE Gene Ehlers-Danlos Syndrome Musculocontractural Type 2 NGS Genetic DNA Test provides numerous advantages:
- Definitive Diagnosis: Obtain conclusive genetic confirmation of musculocontractural Ehlers-Danlos syndrome
- Personalized Treatment Planning: Develop targeted management strategies based on specific genetic findings
- Family Risk Assessment: Identify at-risk family members for early intervention
- Reproductive Counseling: Make informed family planning decisions with genetic guidance
- Proactive Health Management: Implement preventive measures to minimize complications
- Research Contribution: Advance scientific understanding of rare genetic disorders
Understanding Your Test Results
Our comprehensive genetic counseling services help you interpret your test results effectively:
- Positive Result: Confirms the presence of pathogenic DSE gene mutations, establishing a definitive diagnosis of musculocontractural Ehlers-Danlos syndrome type 2
- Negative Result: Indicates no detectable mutations in the DSE gene, though other genetic causes should be considered
- Variant of Uncertain Significance: Identifies genetic changes whose clinical significance requires further investigation
- Carrier Status: Determines if you carry one copy of a mutated gene, important for family planning decisions
Test Pricing and Availability
| Test Description | Regular Price | Discount Price |
|---|---|---|
| DSE Gene Ehlers-Danlos Syndrome Musculocontractural Type 2 NGS Genetic DNA Test | $700 USD | $500 USD |
Turnaround Time: 3 to 4 Weeks
Sample Type: Blood, Extracted DNA, or One Drop Blood on FTA Card
Pre-Test Requirements
Before scheduling your test, please ensure you have:
- Complete clinical history documenting symptoms and physical findings
- Genetic counseling session to create a detailed family pedigree chart
- Documentation of affected family members with similar symptoms
- Referral from your healthcare provider when applicable
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 cities. Our network of certified genetic testing facilities ensures accessibility and convenience for patients nationwide.
Take the Next Step Toward Genetic Clarity
Don’t let uncertainty about your genetic health prevent you from getting the answers you need. Our team of genetic specialists is ready to guide you through the testing process and provide comprehensive support from initial consultation through result interpretation.
Call or WhatsApp us today at +1(267) 388-9828 to schedule your DSE Gene Ehlers-Danlos Syndrome Musculocontractural Type 2 NGS Genetic DNA Test and take control of your genetic health journey.
