HOXD13 Gene Brachydactyly-Syndactyly Syndrome NGS Genetic DNA Test
Comprehensive Genetic Analysis for Limb Malformation Disorders
The HOXD13 Gene Brachydactyly-Syndactyly Syndrome NGS Genetic DNA Test represents a breakthrough in molecular diagnostics for congenital limb abnormalities. This advanced genetic screening utilizes state-of-the-art Next-Generation Sequencing technology to identify mutations in the HOXD13 gene, which plays a critical role in embryonic limb development and patterning.
What Does This Test Measure?
Our specialized genetic test specifically targets the HOXD13 gene located on chromosome 2q31.1, analyzing for:
- Point mutations and small insertions/deletions
- Missense, nonsense, and frameshift mutations
- Regulatory region abnormalities affecting gene expression
- Specific variants associated with brachydactyly type D and E
- Mutations causing syndactyly type V
Who Should Consider This Genetic Test?
This comprehensive genetic analysis is recommended for individuals presenting with:
- Congenital shortening of fingers or toes (brachydactyly)
- Fusion of digits (syndactyly)
- Family history of limb malformations
- Unexplained hand or foot abnormalities in newborns
- Multiple family members with similar limb deformities
- Suspected autosomal dominant inheritance patterns
- Complex limb malformation syndromes
Clinical Benefits of HOXD13 Genetic Testing
Undergoing this specialized genetic analysis provides numerous clinical advantages:
- Accurate Diagnosis: Confirms or rules out HOXD13-related disorders with precision
- Family Planning Guidance: Enables informed reproductive decisions for at-risk families
- Early Intervention: Facilitates timely orthopedic and surgical management
- Genetic Counseling: Provides basis for comprehensive family risk assessment
- Differential Diagnosis: Helps distinguish between various limb malformation syndromes
- Prognostic Information: Offers insights into potential disease progression
Understanding Your Test Results
Our genetic specialists provide comprehensive result interpretation:
- Positive Result: Indicates presence of HOXD13 mutation; confirms diagnosis and enables targeted management
- Negative Result: Suggests alternative causes for limb abnormalities; guides further diagnostic evaluation
- Variant of Uncertain Significance: Requires additional family studies and clinical correlation
- Carrier Status: Important for family members and reproductive planning
Test Details and Pricing
| Test Component | Details |
|---|---|
| Test Name | HOXD13 Gene Brachydactyly-Syndactyly Syndrome 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 |
| Specialty | Pediatrics, Genetics |
| Method | NGS Technology |
| Disease Type | Dysmorphology |
Pre-Test Requirements
To ensure optimal testing outcomes, we recommend:
- Complete clinical history documentation
- Genetic counseling session prior to testing
- Detailed pedigree chart of affected family members
- Clinical photographs of limb abnormalities
- Radiographic imaging when available
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 collection centers ensures accessible genetic testing services nationwide.
Take the Next Step Toward Genetic Clarity
Don’t let uncertainty about limb malformations affect your family’s future. Our HOXD13 genetic testing provides definitive answers and empowers informed healthcare decisions. Contact our genetic specialists today to schedule your comprehensive evaluation.
Call or WhatsApp: +1(267) 388-9828
Book your HOXD13 Gene Brachydactyly-Syndactyly Syndrome NGS Genetic DNA Test today and take control of your genetic health journey. Our team of certified genetic counselors and molecular diagnosticians is ready to provide the expert guidance and support you need.
