TSR2 Gene Diamond-Blackfan Anemia Type 14 with Mandibulofacial Dysostosis NGS Genetic DNA Test
Comprehensive Genetic Analysis for Rare Blood Disorders
The TSR2 Gene Diamond-Blackfan Anemia Type 14 with Mandibulofacial Dysostosis NGS Genetic DNA Test represents a breakthrough in genetic diagnostics for rare inherited conditions affecting both blood production and facial development. This advanced test specifically targets mutations in the TSR2 gene, which plays a critical role in ribosome biogenesis and cellular protein synthesis. When mutations occur in this gene, they disrupt normal red blood cell production in the bone marrow while simultaneously affecting craniofacial development, leading to the characteristic features of Diamond-Blackfan anemia type 14 combined with mandibulofacial dysostosis.
What This Test Measures and Detects
Our comprehensive NGS genetic test provides detailed analysis of:
- Complete sequencing of the TSR2 gene to identify pathogenic variants
- Detection of point mutations, insertions, deletions, and copy number variations
- Assessment of genetic changes affecting ribosome assembly and function
- Identification of inherited or de novo mutations causing the combined syndrome
- Evaluation of mutation impact on erythroid progenitor cell development
Who Should Consider This Test
This genetic test is recommended for individuals presenting with:
- Unexplained congenital anemia appearing in infancy or early childhood
- Macrocytic anemia with reticulocytopenia
- Distinctive facial features including malar hypoplasia, cleft palate, or micrognathia
- Growth retardation and short stature
- Thumb abnormalities or other skeletal anomalies
- Family history of Diamond-Blackfan anemia or craniofacial syndromes
- Previous inconclusive hematological evaluations
- Children with both hematological and craniofacial abnormalities
Clinical Benefits of Genetic Testing
Undergoing the TSR2 gene test provides numerous advantages for patients and families:
- Accurate Diagnosis: Confirms the specific genetic cause of symptoms, eliminating diagnostic uncertainty
- Personalized Treatment: Enables targeted therapeutic approaches based on genetic findings
- Family Planning: Provides crucial information for genetic counseling and reproductive decisions
- Prognostic Insights: Helps predict disease progression and potential complications
- Early Intervention: Facilitates timely management of both hematological and craniofacial aspects
- Research Contribution: Advances understanding of rare genetic disorders
Understanding Your Test Results
Our comprehensive genetic counseling support helps you interpret your results:
- Positive Result: Indicates a pathogenic mutation in the TSR2 gene, confirming the diagnosis and guiding specialized care
- Negative Result: Suggests that TSR2 mutations are not the cause of symptoms, directing further diagnostic evaluation
- Variant of Uncertain Significance: Identifies genetic changes requiring additional research and family studies
- Carrier Status: Determines if individuals carry the mutation without showing symptoms
All results include detailed interpretation by our certified genetic counselors and hematology specialists, ensuring you receive comprehensive guidance for next steps.
Test Pricing Information
| Test Description | Regular Price | Discount Price |
|---|---|---|
| TSR2 Gene Diamond-Blackfan Anemia Type 14 with Mandibulofacial Dysostosis NGS Genetic DNA Test | $700 USD | $500 USD |
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, and San Jose. Our network of certified collection centers ensures accessible genetic testing regardless of your location.
Take the Next Step Toward Genetic Clarity
Don’t let uncertainty about your genetic health prevent you from getting the answers you need. Our specialized genetic testing provides the clarity required for informed medical decisions and personalized care planning. Contact our genetic counseling team today to discuss your testing options and schedule your appointment.
Call or WhatsApp us now at +1(267) 388-9828 to book your comprehensive genetic evaluation and take control of your health journey.
