COL6A3 Gene Ullrich Congenital Muscular Dystrophy Type 1 NGS Genetic DNA Test
Comprehensive Genetic Testing for Neurological Disorders
The COL6A3 Gene Ullrich Congenital Muscular Dystrophy Type 1 NGS Genetic DNA Test represents a breakthrough in neurological genetic diagnostics, offering precise identification of mutations associated with this rare but serious congenital muscular disorder. Utilizing advanced Next-Generation Sequencing technology, this test provides comprehensive analysis of the COL6A3 gene, which encodes the alpha-3 chain of type VI collagen—a critical component of the extracellular matrix in skeletal muscle.
What This Test Measures and Detects
This sophisticated genetic analysis specifically targets the COL6A3 gene to identify:
- Pathogenic mutations causing Ullrich congenital muscular dystrophy type 1
- Single nucleotide variants (SNVs) and small insertions/deletions
- Copy number variations (CNVs) affecting collagen VI production
- Dominant and recessive inheritance patterns
- Novel variants with potential clinical significance
The test employs state-of-the-art NGS technology to sequence the entire COL6A3 gene coding region, including all exons and flanking intronic regions, ensuring comprehensive coverage and high detection sensitivity exceeding 99%.
Who Should Consider This Genetic Test
This test is particularly recommended for individuals presenting with:
- Congenital muscle weakness and hypotonia
- Delayed motor milestones in infancy
- Proximal joint contractures with distal hyperlaxity
- Progressive respiratory complications
- Family history of muscular dystrophy or collagen VI disorders
- Unexplained elevated creatine kinase levels
- Characteristic skin changes including keloid formation
Clinical Benefits and Importance
Early genetic diagnosis through this test provides numerous clinical advantages:
- Accurate Diagnosis: Confirms Ullrich congenital muscular dystrophy type 1, differentiating it from other neuromuscular disorders
- Prognostic Information: Helps predict disease progression and potential complications
- Family Planning: Enables informed reproductive decisions and prenatal testing options
- Personalized Management: Guides appropriate respiratory care, physical therapy, and orthopedic interventions
- Clinical Trial Eligibility: Identifies patients for emerging therapeutic trials
Understanding Your Test Results
Test results are carefully interpreted by our team of certified genetic counselors and neurologists:
- Positive Result: Identifies a pathogenic mutation confirming diagnosis, with detailed guidance on management and family implications
- Negative Result: No pathogenic variants detected, though clinical correlation remains essential
- Variant of Uncertain Significance (VUS): Requires additional family studies and clinical correlation
- Carrier Status: Identifies individuals with single mutation copies who may pass the condition to offspring
Test Pricing and Availability
| Test Name | Discount Price | Regular Price |
|---|---|---|
| COL6A3 Gene Ullrich Congenital Muscular Dystrophy Type 1 NGS Genetic DNA Test | $500 USD | $700 USD |
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. Our network of certified collection centers ensures accessible genetic testing for patients nationwide.
Take Control of Your Neurological Health
Don’t let uncertainty about muscular symptoms delay your diagnosis and treatment. Early genetic testing can provide the answers you need for proper management and improved quality of life. Our experienced genetic counselors are available to discuss your testing options and answer any questions you may have.
Call or WhatsApp us today at +1(267) 388-9828 to schedule your genetic test consultation and take the first step toward accurate diagnosis and personalized care.
With a turnaround time of 3-4 weeks and multiple sample collection options including blood, extracted DNA, or blood spots on FTA cards, we make genetic testing convenient and accessible. Remember to bring your clinical history and consider genetic counseling to create a comprehensive family pedigree chart before testing.
