ANTXR2 Gene Hyaline Fibromatosis Syndrome NGS Genetic DNA Test
Comprehensive Genetic Analysis for Rare Inherited Disorder
The ANTXR2 Gene Hyaline Fibromatosis Syndrome NGS Genetic DNA Test represents a breakthrough in molecular diagnostics for rare genetic conditions. This advanced test utilizes next-generation sequencing technology to analyze the ANTXR2 gene, which plays a critical role in cellular adhesion and extracellular matrix organization. Mutations in this gene lead to hyaline fibromatosis syndrome, a progressive disorder characterized by abnormal accumulation of hyaline material in various tissues throughout the body.
What Does This Test Measure?
This comprehensive genetic test specifically targets the ANTXR2 gene (also known as CMG2), performing detailed analysis of:
- Complete coding regions and exon-intron boundaries
- Pathogenic variants including missense, nonsense, and frameshift mutations
- Copy number variations and large deletions/duplications
- Single nucleotide polymorphisms associated with disease severity
Who Should Consider This Test?
This genetic test is recommended for individuals presenting with:
- Progressive subcutaneous nodules, particularly around joints and pressure points
- Joint contractures and limited mobility
- Gingival hypertrophy and oral mucosal lesions
- Osteolytic bone lesions visible on radiographic imaging
- Family history of similar symptoms or confirmed diagnosis
- Unexplained developmental delays with characteristic skin findings
Clinical Benefits of Genetic Testing
Early and accurate genetic diagnosis provides numerous advantages:
- Definitive Diagnosis: Confirms clinical suspicion and differentiates from similar conditions
- Personalized Management: Enables targeted treatment approaches based on specific mutation type
- Family Planning: Provides crucial information for genetic counseling and reproductive decisions
- Prognostic Information: Helps predict disease progression and potential complications
- Therapeutic Guidance: Informs decisions regarding surgical interventions and medical therapies
Understanding Your Test Results
Your genetic test report will include comprehensive information about detected variants:
- Positive Result: Identifies pathogenic mutation(s) in ANTXR2 gene confirming diagnosis
- Negative Result: No disease-causing variants detected, though clinical correlation remains essential
- Variant of Uncertain Significance: Identifies genetic changes with unknown clinical impact requiring further evaluation
- Carrier Status: Identifies individuals with single mutation who may pass condition to offspring
Test Details and Pricing
| Test Parameter | Details |
|---|---|
| Test Name | ANTXR2 Gene Hyaline Fibromatosis Syndrome 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 |
| Methodology | Next-Generation Sequencing (NGS) Technology |
Pre-Test Requirements
Before scheduling your test, please ensure:
- Complete clinical history documentation
- Genetic counseling session to create detailed family pedigree
- Discussion of potential implications and limitations of testing
- Informed consent process completion
Nationwide Testing Availability
We have diagnostic centers conveniently located across the United States, including major metropolitan areas such as New York City, Los Angeles, Chicago, Houston, Phoenix, Philadelphia, San Antonio, San Diego, Dallas, and San Jose. Our state-of-the-art laboratories ensure consistent, high-quality results regardless of collection location.
Take Control of Your Genetic Health Today
Don’t let uncertainty about your genetic health prevent you from getting the answers you need. Our expert genetic counselors and medical professionals are ready to guide you through the testing process and help you understand your results. Early diagnosis can significantly impact treatment outcomes and quality of life for individuals with hyaline fibromatosis syndrome.
Call or WhatsApp us today at +1(267) 388-9828 to schedule your ANTXR2 genetic test and take the first step toward definitive diagnosis and personalized care.
