COL2A1 Gene Achondrogenesis Type 2 NGS Genetic DNA Test
Comprehensive Genetic Analysis for Severe Skeletal Disorders
The COL2A1 Gene Achondrogenesis Type 2 NGS Genetic DNA Test represents a breakthrough in prenatal and pediatric genetic diagnostics, offering precise detection of mutations responsible for one of the most severe forms of skeletal dysplasia. This advanced genetic test utilizes cutting-edge Next-Generation Sequencing (NGS) technology to analyze the COL2A1 gene, which encodes type II collagen—the primary structural protein in cartilage and vitreous humor of the eye.
What This Test Measures and Detects
Our comprehensive NGS genetic test specifically targets the COL2A1 gene located on chromosome 12q13.11, examining all coding regions and splice sites for pathogenic variants. The test identifies:
- Missense mutations affecting collagen triple-helix formation
- Nonsense mutations leading to premature stop codons
- Frameshift mutations disrupting protein structure
- Splice-site variants affecting mRNA processing
- Deletions and insertions within the COL2A1 gene
Clinical Indications: Who Should Consider This Test
This genetic test is recommended for individuals and families experiencing:
- Prenatal Diagnosis: Abnormal ultrasound findings including severe micromelia, narrow chest, and poor ossification
- Family History: Previous children with skeletal dysplasia or known COL2A1 mutations
- Clinical Symptoms: Severe short-limbed dwarfism present at birth
- Genetic Counseling: Couples with increased risk for collagen disorders
- Differential Diagnosis: Distinguishing between various types of skeletal dysplasias
Key Benefits of COL2A1 Genetic Testing
- Accurate Diagnosis: Provides definitive molecular diagnosis for precise medical management
- Family Planning: Enables informed reproductive decisions and prenatal testing options
- Early Intervention: Facilitates appropriate medical care and management strategies
- Genetic Counseling: Helps families understand inheritance patterns and recurrence risks
- Comprehensive Analysis: NGS technology ensures high detection rate for various mutation types
Understanding Your Test Results
Our genetic counseling team provides comprehensive interpretation of your COL2A1 test results:
- Positive Result: Identifies a pathogenic mutation confirming Achondrogenesis Type 2 diagnosis
- Negative Result: No mutation detected, though other genetic causes may be considered
- Variant of Uncertain Significance: Requires additional family studies for interpretation
- Carrier Status: Identifies individuals with single copy mutations for genetic counseling
Test Pricing and Details
| Test Component | 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 |
| Methodology | Next-Generation Sequencing (NGS) |
Pre-Test Requirements
Before scheduling your COL2A1 genetic test, we recommend:
- Complete clinical history documentation
- Genetic counseling session to discuss testing implications
- Family pedigree analysis to identify inheritance patterns
- Review of previous imaging studies and clinical findings
Nationwide Accessibility
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, and San Jose. 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 genetic conditions 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 included, you receive exceptional value and peace of mind.
Ready to schedule your genetic test? Contact our genetic specialists today at +1(267) 388-9828 or book your appointment online. Our team is available to answer your questions and guide you through the testing process with compassion and expertise.
