COL12A1 Gene Ullrich Congenital Muscular Dystrophy Type 2 NGS Genetic DNA Test
Comprehensive Genetic Testing for Neurological Disorders
The COL12A1 Gene Ullrich Congenital Muscular Dystrophy Type 2 NGS Genetic DNA Test represents a breakthrough in neurological genetic diagnostics. This advanced test specifically targets mutations in the COL12A1 gene, which encodes collagen type XII alpha 1 chain – a crucial component of the extracellular matrix in muscle tissue. When this gene malfunctions, it leads to Ullrich congenital muscular dystrophy type 2, a rare but serious condition affecting muscle development and function.
What Does This Test Measure and Detect?
This sophisticated genetic analysis employs Next-Generation Sequencing (NGS) technology to comprehensively examine the COL12A1 gene for:
- Point mutations and single nucleotide variants
- Insertions and deletions affecting gene function
- Copy number variations impacting collagen production
- Splice site mutations disrupting protein synthesis
- Pathogenic variants associated with muscular dystrophy development
Who Should Consider This Genetic Test?
This specialized genetic test is recommended for individuals presenting with specific clinical indications:
Clinical Symptoms and Indicators
- Infants and children with congenital muscle weakness
- Individuals displaying joint hypermobility with muscle involvement
- Patients with delayed motor milestones and muscle development
- Those with family history of congenital muscular dystrophy
- Individuals with unexplained progressive muscle weakness
- Patients with connective tissue abnormalities affecting mobility
Significant Benefits of Genetic Testing
Undergoing the COL12A1 genetic test provides numerous advantages for patients and healthcare providers:
Diagnostic and Clinical Benefits
- Accurate and definitive diagnosis of Ullrich congenital muscular dystrophy type 2
- Early intervention opportunities for improved patient outcomes
- Personalized treatment planning based on genetic findings
- Family planning guidance and genetic counseling support
- Elimination of diagnostic uncertainty and unnecessary testing
- Access to specialized care and support services
Understanding Your Test Results
Our comprehensive genetic counseling services help interpret your results effectively:
Result Interpretation Guidelines
- Positive Result: Indicates presence of pathogenic COL12A1 mutations confirming diagnosis
- Negative Result: Suggests absence of tested mutations but doesn’t rule out other genetic causes
- Variant of Uncertain Significance: Requires additional family studies and clinical correlation
- Carrier Status: Identifies individuals who may pass mutations to offspring
Test Pricing and Availability
| Price Type | Amount (USD) |
|---|---|
| Discount Price | $500 |
| Regular Price | $700 |
Test Specifications
- Turnaround Time: 3 to 4 Weeks
- Sample Type: Blood, Extracted DNA, or One Drop Blood on FTA Card
- Testing Method: Next-Generation Sequencing (NGS) Technology
- Specialty: Neurology and Genetics
Pre-Test Requirements
To ensure accurate results, please provide:
- Complete clinical history of the patient
- Genetic counseling session for pedigree chart development
- Documentation of affected family members
- Current symptoms and medical records
Nationwide Accessibility
We proudly serve patients across the United States with convenient testing locations in all major cities including New York, Los Angeles, Chicago, Houston, Phoenix, Philadelphia, San Antonio, San Diego, Dallas, San Jose, and many more. Our network of certified genetic counselors and neurological specialists ensures comprehensive care throughout your testing journey.
Take Action Today
Don’t let uncertainty about neurological symptoms delay your path to answers. Our COL12A1 Gene Ullrich Congenital Muscular Dystrophy Type 2 NGS Genetic DNA Test provides the clarity needed for informed medical decisions. Contact our genetic specialists today to schedule your test and begin your journey toward accurate diagnosis and personalized care.
Call or WhatsApp: +1(267) 388-9828 to book your genetic test appointment. Our team is ready to assist you with scheduling, insurance questions, and any concerns about the testing process.
