COL11A1 Gene Fibrochondrogenesis Type 1 NGS Genetic DNA Test
Comprehensive Genetic Testing for Skeletal Dysplasia
The COL11A1 Gene Fibrochondrogenesis Type 1 NGS Genetic DNA Test represents a cutting-edge diagnostic approach for identifying mutations in the COL11A1 gene, which plays a crucial role in collagen formation and skeletal development. This specialized genetic test utilizes next-generation sequencing technology to provide comprehensive analysis of the COL11A1 gene, enabling precise detection of pathogenic variants associated with fibrochondrogenesis type 1, a rare but severe form of skeletal dysplasia.
What This Test Measures and Detects
This advanced genetic test specifically targets the COL11A1 gene, which encodes the alpha-1 chain of type XI collagen. Type XI collagen is essential for proper cartilage formation and skeletal development during embryonic growth. The test detects:
- Point mutations in the COL11A1 gene
- Small insertions and deletions affecting collagen production
- Pathogenic variants disrupting normal skeletal development
- Autosomal recessive inheritance patterns
- Genetic markers associated with severe skeletal abnormalities
Who Should Consider This Test
This genetic test is recommended for individuals presenting with the following clinical indications:
- Newborns or infants with disproportionate short stature
- Patients exhibiting severe skeletal dysplasia symptoms
- Individuals with distinctive facial features including prominent eyes and flat nasal bridge
- Patients with joint abnormalities and limited mobility
- Families with history of skeletal disorders or consanguinity
- Prenatal cases showing abnormal skeletal development on ultrasound
- Individuals requiring differential diagnosis from other skeletal dysplasias
Clinical Benefits of Genetic Testing
Undergoing the COL11A1 Gene Fibrochondrogenesis Type 1 NGS Genetic DNA Test provides numerous clinical advantages:
- Accurate Diagnosis: Provides definitive identification of fibrochondrogenesis type 1
- Family Planning Guidance: Enables informed reproductive decisions for at-risk families
- Personalized Management: Facilitates tailored treatment and monitoring strategies
- Early Intervention: Allows for prompt implementation of supportive care measures
- Genetic Counseling: Provides comprehensive risk assessment for family members
- Differential Diagnosis: Helps distinguish from other skeletal dysplasia conditions
Understanding Your Test Results
Our genetic specialists provide comprehensive interpretation of your test results:
- Positive Result: Indicates presence of pathogenic COL11A1 mutations confirming fibrochondrogenesis type 1 diagnosis
- Negative Result: Suggests absence of detectable COL11A1 mutations, though clinical correlation is essential
- Variant of Uncertain Significance: Identifies genetic changes requiring further clinical evaluation
- Carrier Status: Determines if individuals carry one copy of the mutated gene
All results include detailed genetic counseling to help you understand the implications and next steps for management and family planning.
Test Pricing Information
| Test Component | Price (USD) |
|---|---|
| COL11A1 Gene Fibrochondrogenesis Type 1 NGS Genetic DNA Test – Discount Price | $500 |
| COL11A1 Gene Fibrochondrogenesis Type 1 NGS Genetic DNA Test – Regular Price | $700 |
Nationwide Testing Availability
We provide comprehensive genetic testing services across the United States with convenient locations in all major cities including New York, Los Angeles, Chicago, Houston, Phoenix, Philadelphia, San Antonio, San Diego, Dallas, and San Jose. Our state-of-the-art laboratories ensure consistent, high-quality testing standards nationwide.
Pre-Test Requirements and Sample Collection
Before testing, we recommend:
- Comprehensive clinical history documentation
- Genetic counseling session to create detailed family pedigree
- Sample collection options: Blood, Extracted DNA, or One drop Blood on FTA Card
- Turnaround time: 3 to 4 weeks from sample receipt
Take the Next Step Toward Genetic Clarity
Don’t let uncertainty about skeletal development disorders affect your family’s future. Our specialized genetic testing provides the answers you need for informed medical decisions and comprehensive family planning. Our team of genetic counselors and medical specialists are ready to guide you through every step of the testing process.
Call us today at +1(267) 388-9828 to schedule your COL11A1 Gene Fibrochondrogenesis Type 1 NGS Genetic DNA Test and take control of your genetic health journey.
