TSR2 Gene Diamond-Blackfan Anemia Type 14 with Mandibulofacial Dysostosis NGS Genetic DNA Test
Comprehensive Genetic Analysis for Rare Inherited Disorders
The TSR2 Gene Diamond-Blackfan Anemia Type 14 with Mandibulofacial Dysostosis NGS Genetic DNA Test represents a breakthrough in molecular diagnostics for rare pediatric conditions. This advanced genetic screening utilizes cutting-edge Next-Generation Sequencing (NGS) technology to identify mutations in the TSR2 gene, which plays a critical role in ribosome biogenesis and cellular protein synthesis. When this gene malfunctions, it leads to Diamond-Blackfan anemia type 14, a rare inherited bone marrow failure syndrome characterized by red blood cell production defects and distinctive craniofacial abnormalities.
What This Test Detects and Measures
Our comprehensive NGS-based analysis specifically targets:
- Pathogenic variants in the TSR2 gene located on chromosome Xp11.23
- Point mutations, insertions, deletions, and copy number variations
- Genetic markers associated with impaired ribosome assembly
- Inheritance patterns of X-linked recessive disorders
- Risk assessment for family members through genetic counseling
Clinical Significance of TSR2 Gene Mutations
The TSR2 gene encodes a protein essential for proper ribosome formation, particularly the 40S ribosomal subunit. Mutations disrupt normal hematopoiesis, leading to the characteristic features of Diamond-Blackfan anemia type 14, including progressive anemia, growth retardation, and the distinctive mandibulofacial dysostosis phenotype with craniofacial abnormalities.
Who Should Consider This Genetic Test?
This specialized genetic testing is recommended for individuals presenting with:
- Macrocytic anemia appearing in infancy or early childhood
- Growth retardation and failure to thrive
- Craniofacial abnormalities including microcephaly, hypertelorism, or cleft palate
- Family history of Diamond-Blackfan anemia or related disorders
- Unexplained bone marrow failure syndromes
- Developmental delays with hematological abnormalities
Key Clinical Indications
Patients exhibiting the classic triad of symptoms – congenital hypoplastic anemia, growth restriction, and characteristic facial dysmorphism – should strongly consider this genetic evaluation. Early diagnosis enables proactive management and improves long-term outcomes.
Benefits of TSR2 Genetic Testing
- Accurate Diagnosis: Provides definitive molecular confirmation of Diamond-Blackfan anemia type 14
- Family Planning Guidance: Enables informed reproductive decisions and carrier testing
- Personalized Treatment: Guides corticosteroid therapy and transfusion management
- Prognostic Information: Helps predict disease progression and complications
- Early Intervention: Facilitates timely hematological support and growth monitoring
- Genetic Counseling: Comprehensive pedigree analysis and inheritance pattern education
Understanding Your Test Results
Our detailed genetic report provides comprehensive interpretation of your results:
Positive Result Interpretation
A positive result indicates the presence of pathogenic TSR2 gene mutations confirming Diamond-Blackfan anemia type 14 diagnosis. This enables:
- Implementation of targeted treatment strategies
- Regular hematological monitoring and corticosteroid therapy
- Family member screening and genetic counseling
- Long-term management planning for potential complications
Negative Result Interpretation
A negative result suggests that TSR2 gene mutations were not detected, though clinical correlation remains essential. Further genetic testing for other Diamond-Blackfan anemia genes may be recommended based on clinical presentation.
Variant of Uncertain Significance (VUS)
When variants of uncertain clinical significance are identified, our genetic counselors provide detailed guidance on interpretation and potential follow-up testing options.
Test Pricing and Details
| Test Feature | Details |
|---|---|
| Test Name | TSR2 Gene Diamond-Blackfan Anemia Type 14 with Mandibulofacial Dysostosis 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 |
Nationwide Testing Availability
GGC DNA provides comprehensive genetic testing services across the United States with convenient 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 collection centers ensures accessible testing for patients nationwide.
Take Control of Your Genetic Health Today
Don’t let uncertainty about genetic conditions affect your family’s future. Our specialized TSR2 genetic testing provides the clarity needed for informed medical decisions and comprehensive care planning. With advanced NGS technology and expert genetic counseling, we deliver accurate, reliable results you can trust.
Call or WhatsApp us today at +1(267) 388-9828 to schedule your genetic counseling session and book your TSR2 Gene Diamond-Blackfan Anemia Type 14 with Mandibulofacial Dysostosis NGS Genetic DNA Test. Our genetic specialists are ready to guide you through every step of the testing process and help you understand your results.
