COL2A1 Gene Achondrogenesis Type 2 NGS Genetic DNA Test
Comprehensive Genetic Analysis for Skeletal Dysplasia
The COL2A1 Gene Achondrogenesis Type 2 NGS Genetic DNA Test represents a breakthrough in molecular diagnostics for skeletal disorders. This advanced genetic screening utilizes cutting-edge Next-Generation Sequencing (NGS) technology to identify mutations in the COL2A1 gene, which encodes type II collagen – a crucial protein for proper cartilage and bone development. Achondrogenesis type 2 is a severe, often lethal form of skeletal dysplasia that affects fetal development and requires precise genetic diagnosis for accurate medical management and family counseling.
What This Test Measures and Detects
Our comprehensive NGS-based test specifically targets the COL2A1 gene to identify pathogenic variants responsible for achondrogenesis type 2 and related skeletal disorders. The test examines:
- Complete coding regions of the COL2A1 gene
- Exon-intron boundaries for splice site mutations
- Point mutations, insertions, and deletions
- Genetic variants affecting collagen type II production
- Autosomal dominant inheritance patterns
Who Should Consider This Genetic Test
This specialized genetic testing is recommended for individuals and families experiencing:
- Prenatal ultrasound findings suggesting skeletal abnormalities
- Family history of achondrogenesis or similar skeletal dysplasias
- Previous pregnancies affected by lethal skeletal disorders
- Clinical features including severe short stature, underdeveloped bones, and respiratory complications
- Parents seeking preconception genetic counseling for known COL2A1 mutations
- Unexplained neonatal deaths with skeletal abnormalities
Key Benefits of COL2A1 Genetic Testing
Undergoing this comprehensive genetic analysis provides numerous advantages:
- Accurate Diagnosis: Precise identification of COL2A1 mutations enables definitive diagnosis
- Family Planning Guidance: Essential information for reproductive decision-making
- Prenatal Management: Early detection allows for appropriate medical interventions
- Genetic Counseling: Comprehensive risk assessment for family members
- Research Contribution: Advances understanding of skeletal dysplasia genetics
- Peace of Mind: Clear answers for families facing uncertain diagnoses
Understanding Your Test Results
Our genetic specialists provide detailed interpretation of your COL2A1 test results:
- Positive Result: Identifies a pathogenic mutation confirming diagnosis and enabling targeted management
- Negative Result: No COL2A1 mutation detected, though other genetic causes may require investigation
- Variant of Uncertain Significance: Requires additional family studies and clinical correlation
- Carrier Status: Important information for family members and future reproductive planning
All results include comprehensive genetic counseling to ensure complete understanding and appropriate next steps.
Test Pricing and Details
| Test Feature | Details |
|---|---|
| Test Name | COL2A1 Gene Achondrogenesis Type 2 NGS Genetic DNA Test |
| Discount Price | $500 USD |
| Regular Price | $700 USD |
| 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 |
Pre-Test Requirements and Preparation
To ensure optimal testing outcomes, we require:
- Complete clinical history of the patient
- Genetic counseling session to create detailed family pedigree
- Documentation of affected family members
- Relevant medical records and imaging studies
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 medical professionals ensures consistent, high-quality care regardless of location.
Take the Next Step Toward Genetic Clarity
Don’t let uncertainty about skeletal disorders affect your family’s future. Our COL2A1 Gene Achondrogenesis Type 2 NGS Genetic DNA Test provides the answers you need for informed medical decisions and family planning. With our discounted price of $500 USD and comprehensive genetic counseling support, you can access world-class genetic testing with confidence.
Call or WhatsApp us today at +1(267) 388-9828 to schedule your genetic counseling session and book this essential test. Our genetic specialists are ready to guide you through every step of the testing process and provide the clarity your family deserves.
