Short Description

NGS genetic DNA test detecets for variant and mutation detection in TSR2 gene for Diamond-Blackfan anemia type 14 with mandibulofacial dysostosis

PreTest Information

Clinical History of Patient who is going for TSR2 Gene Diamond-Blackfan anemia type 14 with mandibulofacial dysostosis NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with TSR2 Gene Diamond-Blackfan anemia type 14 with mandibulofacial dysostosis NGS Genetic DNA Test gene TSR2

Detail Description

TSR2 Gene Diamond-Blackfan Anemia Type 14 with Mandibulofacial Dysostosis NGS Genetic DNA Test Cost INR:20000 Symptoms Diagnosis

Diamond-Blackfan Anemia (DBA) is a rare genetic disorder that causes bone marrow failure. Individuals with DBA have a reduced number of red blood cells, which leads to anemia. The condition can also cause other health problems, including birth defects and organ abnormalities. DBA can be caused by mutations in several different genes, including the TSR2 gene.

TSR2 gene mutations are associated with DBA type 14, which is characterized by anemia and mandibulofacial dysostosis. Mandibulofacial dysostosis is a condition that affects the development of the jaw and facial bones, leading to facial abnormalities and difficulties with eating and speaking.

Symptoms of TSR2 Gene Diamond-Blackfan Anemia Type 14 with Mandibulofacial Dysostosis

The symptoms of TSR2 Gene Diamond-Blackfan Anemia Type 14 with Mandibulofacial Dysostosis can vary from person to person, but may include:

• Anemia
• Pale skin
• Fatigue
• Shortness of breath
• Facial abnormalities
• Difficulty eating and speaking

Diagnosis of TSR2 Gene Diamond-Blackfan Anemia Type 14 with Mandibulofacial Dysostosis

Diagnosis of TSR2 Gene Diamond-Blackfan Anemia Type 14 with Mandibulofacial Dysostosis typically involves a combination of physical exams, blood tests, and genetic testing. A genetic test can confirm the presence of a TSR2 gene mutation and help to diagnose DBA type 14.

NGS Genetic DNA Test for TSR2 Gene Diamond-Blackfan Anemia Type 14 with Mandibulofacial Dysostosis

NGS Genetic DNA testing is a type of genetic test that uses next-generation sequencing to identify mutations in the DNA. This type of testing is highly accurate and can identify mutations in multiple genes at once. The cost of an NGS Genetic DNA test for TSR2 Gene Diamond-Blackfan Anemia Type 14 with Mandibulofacial Dysostosis is INR:20000.

If you or someone you know is experiencing symptoms of TSR2 Gene Diamond-Blackfan Anemia Type 14 with Mandibulofacial Dysostosis, it is important to seek medical attention and consider genetic testing. DNA Labs India offers NGS Genetic DNA testing for a variety of genetic disorders, including DBA type 14. Our testing is accurate, reliable, and affordable, and can provide valuable information for diagnosis and treatment.

For more information about NGS Genetic DNA testing for TSR2 Gene Diamond-Blackfan Anemia Type 14 with Mandibulofacial Dysostosis, contact DNA Labs India today.