ECEL1 Gene Arthrogryposis Distal Type 5D NGS Genetic DNA Test
Comprehensive Genetic Analysis for Distal Arthrogryposis Type 5D
The ECEL1 Gene Arthrogryposis Distal Type 5D NGS Genetic DNA Test represents a cutting-edge diagnostic tool in the field of genetic medicine. This specialized test focuses on identifying mutations in the ECEL1 (Endothelin Converting Enzyme Like 1) gene, which plays a critical role in neuromuscular development and function. Distal arthrogryposis type 5D is a rare congenital disorder characterized by multiple joint contractures primarily affecting the hands and feet, often accompanied by distinctive facial features and other skeletal abnormalities.
What Does This Test Measure and Detect?
Our advanced NGS (Next-Generation Sequencing) technology provides comprehensive analysis of the ECEL1 gene to detect:
- Point mutations and single nucleotide variants
- Small insertions and deletions
- Copy number variations
- Pathogenic variants associated with distal arthrogryposis type 5D
- Novel genetic alterations affecting protein function
The test examines the entire coding region of the ECEL1 gene, including exon-intron boundaries, to ensure maximum detection sensitivity for clinically relevant mutations.
Who Should Consider This Genetic Test?
This test is particularly recommended for individuals presenting with:
- Congenital joint contractures affecting hands and feet
- Family history of distal arthrogryposis
- Characteristic facial features including micrognathia, down-slanting palpebral fissures, and prominent nasal bridge
- Unexplained skeletal abnormalities at birth
- Previous inconclusive genetic testing for arthrogryposis
- Planning for pregnancy with family history of ECEL1-related disorders
Clinical Benefits of ECEL1 Genetic Testing
Undergoing the ECEL1 Gene Arthrogryposis Distal Type 5D NGS Genetic DNA Test provides numerous clinical advantages:
- Accurate Diagnosis: Confirms or rules out ECEL1-related distal arthrogryposis type 5D
- Genetic Counseling: Enables informed family planning decisions
- Personalized Management: Guides appropriate medical interventions and therapies
- Prognostic Information: Helps predict disease progression and potential complications
- Research Contribution: Advances understanding of rare genetic disorders
Understanding Your Test Results
Our comprehensive genetic report provides detailed interpretation of your results:
- Positive Result: Indicates the presence of a pathogenic ECEL1 mutation consistent with distal arthrogryposis type 5D diagnosis
- Negative Result: Suggests that ECEL1 mutations are not detected, though other genetic causes should be considered
- Variant of Uncertain Significance: Identifies genetic changes with unknown clinical impact requiring further evaluation
- Carrier Status: Determines if you carry a single copy of a mutated ECEL1 gene
All results are accompanied by detailed clinical interpretation and recommendations for follow-up care. Genetic counseling is strongly recommended to fully understand your results and their implications.
Test Pricing and Availability
| Test Component | Price (USD) |
|---|---|
| Discount Price | $500 |
| Regular Price | $700 |
Turnaround Time: 3 to 4 Weeks
Sample Type: Blood, Extracted DNA, or One Drop Blood on FTA Card
Nationwide Availability
We have diagnostic centers conveniently located 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 more. Our state-of-the-art facilities ensure consistent, high-quality testing services nationwide.
Pre-Test Requirements
Before scheduling your ECEL1 genetic test, we recommend:
- Complete clinical history documentation
- Genetic counseling session to discuss testing implications
- Development of a detailed family pedigree chart
- Understanding of potential outcomes and their significance
Take Control of Your Genetic Health Today
Don’t let uncertainty about genetic conditions affect your quality of life. The ECEL1 Gene Arthrogryposis Distal Type 5D NGS Genetic DNA Test provides the clarity you need for informed medical decisions and family planning. Our team of genetic specialists is ready to guide you through the testing process and help you understand your results.
Call or WhatsApp us today at +1(267) 388-9828 to schedule your genetic test consultation and take the first step toward genetic clarity.
Early diagnosis through genetic testing can lead to better management strategies and improved outcomes for individuals with ECEL1-related disorders. Trust our expertise in genetic diagnostics to provide you with accurate, reliable results and comprehensive support throughout your testing journey.
