TBXAS1 Gene Ghosal Hematodiaphyseal Syndrome NGS Genetic DNA Test
Understanding Ghosal Hematodiaphyseal Syndrome
Ghosal hematodiaphyseal syndrome is a rare autosomal recessive genetic disorder characterized by abnormal bone development and hematological abnormalities. This complex condition affects multiple body systems, primarily involving bone marrow expansion, skeletal deformities, and immune system dysfunction. The TBXAS1 gene plays a crucial role in this syndrome, encoding thromboxane A synthase 1, an enzyme essential for proper bone metabolism and blood cell regulation.
What This Test Measures
The TBXAS1 Gene Ghosal Hematodiaphyseal Syndrome NGS Genetic DNA Test utilizes cutting-edge Next-Generation Sequencing technology to comprehensively analyze the TBXAS1 gene for pathogenic variants. This advanced genetic testing approach detects:
- Point mutations and small insertions/deletions in the TBXAS1 gene
- Missense, nonsense, and frameshift mutations affecting thromboxane A synthase function
- Genetic variants associated with impaired bone marrow stromal cell function
- Mutations leading to abnormal prostaglandin and thromboxane metabolism
Who Should Consider This Test
Clinical Indications and Symptoms
This genetic test is recommended for individuals presenting with:
- Unexplained bone pain and skeletal abnormalities
- Progressive diaphyseal dysplasia with cortical thickening
- Hematological abnormalities including anemia and thrombocytopenia
- Recurrent infections suggesting immune system compromise
- Family history of similar bone and blood disorders
- Developmental delays with skeletal manifestations
- Multiple affected family members suggesting autosomal recessive inheritance
Benefits of Genetic Testing
Undergoing the TBXAS1 Gene Ghosal Hematodiaphyseal Syndrome test provides numerous advantages:
- Accurate Diagnosis: Confirms or rules out Ghosal hematodiaphyseal syndrome with high precision
- Family Planning: Enables informed reproductive decisions for carriers and affected families
- Personalized Treatment: Guides targeted therapeutic approaches based on genetic findings
- Proactive Management: Facilitates early intervention for potential complications
- Genetic Counseling: Provides comprehensive understanding of inheritance patterns
- Research Contribution: Advances medical knowledge about rare genetic disorders
Understanding Your Test Results
Our comprehensive genetic analysis provides detailed insights into your TBXAS1 gene status:
Positive Result Interpretation
A positive result indicates the presence of pathogenic variants in the TBXAS1 gene associated with Ghosal hematodiaphyseal syndrome. This confirms the genetic diagnosis and enables:
- Implementation of specialized medical management protocols
- Regular monitoring for bone and hematological complications
- Family member testing and genetic counseling
- Coordination with multidisciplinary care teams
Negative Result Interpretation
A negative result suggests that no pathogenic TBXAS1 gene variants were detected. This information helps:
- Exclude Ghosal hematodiaphyseal syndrome as the cause of symptoms
- Guide further diagnostic evaluation for alternative conditions
- Provide reassurance for family planning decisions
- Direct medical attention to other potential diagnoses
Variant of Uncertain Significance (VUS)
In some cases, genetic variants of uncertain clinical significance may be identified. Our genetic counseling team provides:
- Detailed explanation of variant implications
- Recommendations for additional family studies
- Guidance on clinical monitoring and follow-up
- Regular updates as scientific knowledge evolves
Test Details and Pricing
| Test Component | Details |
|---|---|
| Test Name | TBXAS1 Gene Ghosal Hematodiaphyseal 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 |
| Testing Method | Next-Generation Sequencing (NGS) Technology |
| Specialties Involved | Genetics, Dermatology, Osteology, Immunology |
Pre-Test Requirements
To ensure optimal testing outcomes, we require:
- Complete clinical history of the patient
- Genetic counseling session to document family pedigree
- Informed consent for genetic testing
- Documentation of relevant symptoms and family history
Nationwide Testing Availability
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, San Jose, and many more. Our network of certified genetic testing facilities ensures accessible, reliable testing services nationwide.
Take Control of Your Genetic Health
Early genetic diagnosis of Ghosal hematodiaphyseal syndrome can significantly impact treatment outcomes and quality of life. Our comprehensive TBXAS1 gene testing provides the clarity needed for informed medical decisions and personalized care planning.
Ready to schedule your genetic test? Contact our genetic specialists today at +1(267) 388-9828 or book your appointment online. Take the first step toward understanding your genetic health and accessing targeted treatment options.
