AMER1 Gene Osteopathia Striata with Cranial Sclerosis NGS Genetic DNA Test
Comprehensive Genetic Testing for Rare Bone Disorders
The AMER1 Gene Osteopathia Striata with Cranial Sclerosis NGS Genetic DNA Test represents a breakthrough in genetic diagnostics for rare skeletal conditions. This advanced test specifically targets mutations in the AMER1 (also known as WTX) gene, which plays a critical role in bone development and mineralization. Osteopathia striata with cranial sclerosis is a rare X-linked dominant disorder characterized by distinctive linear striations in long bones and increased bone density in the skull.
What This Test Measures and Detects
Our NGS-based genetic test provides comprehensive analysis of the AMER1 gene to identify:
- Point mutations and small insertions/deletions in the AMER1 gene
- Genetic variations associated with osteopathia striata with cranial sclerosis
- X-linked dominant inheritance patterns
- Pathogenic variants affecting bone development pathways
- Mutations that disrupt normal Wnt signaling pathways
Who Should Consider This Test
This genetic test is recommended for individuals presenting with:
- Characteristic linear striations visible on skeletal radiographs
- Cranial sclerosis or increased skull bone density
- Developmental delays or intellectual disability
- Facial dysmorphism or craniofacial abnormalities
- Family history of osteopathia striata with cranial sclerosis
- Unexplained skeletal abnormalities in childhood
- Multiple congenital anomalies involving bone development
Clinical Benefits of AMER1 Genetic Testing
Undergoing this comprehensive genetic analysis provides numerous advantages:
- Accurate Diagnosis: Confirms or rules out AMER1-related disorders with high precision
- Personalized Treatment: Enables targeted management strategies for bone health
- Genetic Counseling: Provides essential information for family planning decisions
- Early Intervention: Facilitates timely management of potential complications
- Prognostic Information: Helps predict disease progression and outcomes
- Research Contribution: Advances understanding of rare genetic bone disorders
Understanding Your Test Results
Our comprehensive genetic report includes:
- Positive Result: Indicates the presence of a pathogenic AMER1 mutation, confirming diagnosis of osteopathia striata with cranial sclerosis
- Negative Result: Suggests absence of detectable AMER1 mutations, though other genetic causes should be considered
- Variant of Uncertain Significance: Identifies genetic changes with unclear clinical implications requiring further evaluation
- Carrier Status: Determines inheritance patterns and reproductive risks
Test Details and Pricing
| Test Feature | Details |
|---|---|
| Test Name | AMER1 Gene Osteopathia Striata with Cranial Sclerosis 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 |
| Testing Method | Next-Generation Sequencing (NGS) Technology |
Pre-Test Requirements
Before scheduling your test, please ensure:
- Complete clinical history of the patient
- Genetic counseling session to create family pedigree chart
- Documentation of affected family members with AMER1-related conditions
- Radiological evidence of skeletal abnormalities when available
Nationwide Accessibility
We proudly serve patients across the United States with convenient testing locations in all major cities including New York, Los Angeles, Chicago, Houston, Phoenix, Philadelphia, San Antonio, San Diego, Dallas, and San Jose. Our network of certified genetic counselors and healthcare professionals ensures comprehensive support throughout your testing journey.
Take the Next Step Toward Genetic Clarity
Don’t let uncertainty about genetic bone disorders affect your health decisions. Our AMER1 genetic test provides the answers you need for informed medical management and family planning. With our discounted price of $500 USD, advanced NGS technology, and comprehensive analysis, you can trust our expertise in genetic diagnostics.
Ready to schedule your test? Call our genetic specialists today at +1(267) 388-9828 or book your appointment online. Take control of your genetic health with confidence and precision.
