CANT1 Gene Desbuquois Dysplasia Type 1 NGS Genetic DNA Test
Comprehensive Genetic Analysis for Skeletal Dysplasia
The CANT1 Gene Desbuquois Dysplasia Type 1 NGS Genetic DNA Test represents a cutting-edge diagnostic approach for identifying mutations in the CANT1 gene, which encodes calcium-activated nucleotidase 1. This enzyme plays a crucial role in skeletal development and mineralization processes. Desbuquois dysplasia type 1 is a rare autosomal recessive skeletal disorder characterized by severe short stature, joint hypermobility, and distinctive facial features. Early and accurate genetic diagnosis is essential for proper management, treatment planning, and genetic counseling for affected families.
What This Advanced Genetic Test Detects
Our comprehensive NGS-based test specifically targets and sequences the entire CANT1 gene to identify pathogenic variants responsible for Desbuquois dysplasia type 1. The test detects:
- Point mutations, insertions, and deletions in the CANT1 gene
- Compound heterozygous mutations causing autosomal recessive inheritance
- Novel variants with potential clinical significance
- Known pathogenic mutations associated with skeletal dysplasia
Who Should Consider This Genetic Test
This specialized genetic test is recommended for individuals presenting with:
- Severe short stature with disproportionate limb shortening
- Joint hyperlaxity and advanced bone age
- Characteristic facial features including prominent eyes and flat nasal bridge
- Family history of skeletal dysplasia or consanguineous parents
- Unexplained developmental delays with skeletal abnormalities
- Previous inconclusive genetic testing for skeletal disorders
Significant Benefits of Genetic Testing
Undergoing the CANT1 Gene Desbuquois Dysplasia Type 1 test provides numerous advantages:
- Accurate Diagnosis: Confirms or rules out Desbuquois dysplasia type 1 with high precision
- Family Planning Guidance: Enables informed reproductive decisions for carrier couples
- Personalized Management: Guides appropriate medical interventions and monitoring
- Early Intervention: Facilitates timely orthopedic and developmental support
- Genetic Counseling: Provides comprehensive risk assessment for family members
Understanding Your Test Results
Our genetic specialists provide detailed interpretation of your results:
- Positive Result: Identifies pathogenic mutations confirming diagnosis, enabling targeted management
- Negative Result: Rules out CANT1-related Desbuquois dysplasia, suggesting alternative diagnoses
- Variant of Uncertain Significance: Requires additional family studies and clinical correlation
- Carrier Status: Identifies individuals with single mutation who can pass the condition to offspring
Test Pricing Information
| Price Type | Amount (USD) |
|---|---|
| Discount Price | $500 |
| Regular Price | $700 |
Nationwide Testing Availability
We have comprehensive testing facilities across the United States, serving major metropolitan areas 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 genetic testing with rapid turnaround times of 3-4 weeks.
Take the Next Step Toward Genetic Clarity
Don’t let uncertainty about skeletal dysplasia affect your family’s future. Our genetic counseling team is ready to guide you through the testing process and provide comprehensive support. Contact us today to schedule your CANT1 Gene Desbuquois Dysplasia Type 1 NGS Genetic DNA Test and gain the genetic insights you need for informed healthcare decisions.
Call or WhatsApp: +1(267) 388-9828 to book your test or speak with our genetic specialists.
