B3GAT3 Gene Multiple Joint Dislocations, Short Stature, Craniofacial Dysmorphism and Congenital Heart Defects NGS Genetic DNA Test
Comprehensive Genetic Analysis for Connective Tissue Disorders
The B3GAT3 Gene NGS Genetic DNA Test represents a cutting-edge diagnostic approach for identifying genetic mutations associated with complex connective tissue and skeletal disorders. This specialized test utilizes next-generation sequencing technology to provide comprehensive analysis of the B3GAT3 gene, which plays a critical role in proteoglycan biosynthesis and extracellular matrix formation.
What Does the B3GAT3 Gene Test Detect?
This advanced genetic test specifically targets mutations in the B3GAT3 gene that are responsible for:
- Multiple joint dislocations and hypermobility
- Significant short stature and growth abnormalities
- Craniofacial dysmorphism including distinctive facial features
- Congenital heart defects and cardiovascular abnormalities
- Larsen syndrome and related connective tissue disorders
Who Should Consider This Genetic Test?
This test is particularly recommended for individuals presenting with:
- Multiple congenital joint dislocations at birth
- Unusually short stature compared to family members
- Distinctive facial features including flat facies, prominent forehead, or hypertelorism
- Congenital heart defects such as septal defects or valve abnormalities
- Family history of connective tissue disorders or skeletal abnormalities
- Unexplained developmental delays with skeletal involvement
Clinical Benefits of B3GAT3 Genetic Testing
Undergoing this comprehensive genetic analysis provides numerous clinical advantages:
- Accurate Diagnosis: Confirms or rules out B3GAT3-related disorders with high precision
- Personalized Treatment: Enables targeted management strategies for joint, cardiac, and growth concerns
- Family Planning: Provides crucial information for genetic counseling and reproductive decisions
- Early Intervention: Facilitates timely medical and surgical interventions when needed
- Prognostic Information: Helps predict disease progression and potential complications
Understanding Your Test Results
Our genetic specialists provide comprehensive interpretation of your B3GAT3 gene analysis:
- Positive Result: Indicates a pathogenic mutation in the B3GAT3 gene, confirming diagnosis of related disorders
- Negative Result: Suggests absence of detectable B3GAT3 mutations, though other genetic causes may be considered
- Variant of Uncertain Significance: Requires additional family studies and clinical correlation
- Carrier Status: Identifies individuals who may pass the condition to offspring
Test Pricing and Availability
| Test Feature | Details |
|---|---|
| Test Name | B3GAT3 Gene Multiple Joint Dislocations, Short Stature, Craniofacial Dysmorphism and Congenital Heart Defects 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 |
Nationwide Testing Availability
We have genetic testing facilities conveniently located across the United States, serving patients 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 accessible, high-quality genetic testing services nationwide.
Take the Next Step Toward Genetic Clarity
If you or your child are experiencing symptoms suggestive of B3GAT3-related disorders, don’t wait to get answers. Our comprehensive genetic testing provides the clarity needed for proper diagnosis and management. Contact our genetic specialists today to schedule your test and begin your journey toward understanding and managing your genetic health.
Call or WhatsApp us at +1(267) 388-9828 to book your B3GAT3 genetic test today and take advantage of our special pricing at $500 USD!
