SLC39A13 Gene Spondylocheirodysplasia Ehlers-Danlos Syndrome-like NGS Genetic DNA Test
Comprehensive Genetic Analysis for Connective Tissue Disorders
The SLC39A13 Gene Spondylocheirodysplasia Ehlers-Danlos Syndrome-like NGS Genetic DNA Test represents a breakthrough in genetic diagnostics for rare connective tissue and skeletal disorders. This advanced test specifically targets the SLC39A13 gene, which plays a critical role in zinc transport and connective tissue development. Mutations in this gene can lead to complex conditions affecting multiple body systems, making accurate genetic diagnosis essential for proper management and treatment.
What This Test Measures and Detects
This sophisticated genetic test utilizes Next-Generation Sequencing (NGS) technology to comprehensively analyze the SLC39A13 gene for pathogenic variants. The test specifically identifies:
- Point mutations, insertions, and deletions in the SLC39A13 gene
- Variants associated with spondylocheirodysplasia
- Genetic markers for Ehlers-Danlos syndrome-like conditions
- Mutations affecting zinc transporter function
- Inheritance patterns for genetic counseling purposes
Who Should Consider This Genetic Test
This test is particularly recommended for individuals presenting with the following symptoms or clinical features:
- Joint hypermobility and recurrent dislocations
- Unusual skin elasticity and fragility
- Skeletal abnormalities including short stature
- Spinal deformities and vertebral anomalies
- Delayed motor development in children
- Family history of connective tissue disorders
- Unexplained connective tissue weakness
- Multiple system involvement affecting bones, skin, and joints
Significant Benefits of Genetic Testing
Undergoing the SLC39A13 genetic test provides numerous advantages for patients and healthcare providers:
- Definitive Diagnosis: Provides conclusive genetic evidence for rare connective tissue disorders
- Personalized Treatment: Enables targeted management strategies based on specific genetic findings
- Family Planning: Offers crucial information for genetic counseling and reproductive decisions
- Early Intervention: Facilitates proactive management of potential complications
- Differential Diagnosis: Helps distinguish between similar connective tissue conditions
- Research Contribution: Advances understanding of rare genetic disorders
Understanding Your Test Results
Genetic test results require careful interpretation by qualified medical professionals. Your results will fall into one of these categories:
- Positive Result: Indicates the presence of a pathogenic variant in the SLC39A13 gene, confirming the genetic basis for symptoms
- Negative Result: Suggests no disease-causing variants were detected in the SLC39A13 gene
- Variant of Uncertain Significance: Identifies genetic changes whose clinical significance is currently unknown
- Carrier Status: Determines if you carry one copy of a mutated gene that could be passed to offspring
All positive results should be discussed with a genetic counselor to understand implications for treatment, management, and family members.
Test Pricing and Details
| Test Feature | Details |
|---|---|
| Test Name | SLC39A13 Gene Spondylocheirodysplasia Ehlers-Danlos Syndrome-like NGS Genetic DNA Test |
| Regular Price | $700 USD |
| Discount Price | $500 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 |
Nationwide Testing Availability
We have conveniently located testing centers across the United States, including major metropolitan areas such as New York, Los Angeles, Chicago, Houston, Phoenix, Philadelphia, San Antonio, San Diego, Dallas, San Jose, and many other cities. Our nationwide network ensures accessible genetic testing services for patients throughout the country.
Take the Next Step Toward Genetic Clarity
If you or a family member are experiencing symptoms suggestive of connective tissue disorders, don’t wait to get answers. Our comprehensive SLC39A13 genetic test provides the clarity needed for proper diagnosis and management. Contact us today to schedule your genetic counseling session and testing.
Call or WhatsApp us at +1(267) 388-9828 to book your test or speak with our genetic specialists. Our team is ready to answer your questions and guide you through the testing process with compassion and expertise.
