Short Description

NGS genetic DNA test detecets for variant and mutation detection in RPL26 gene for Diamond-Blackfan anemia type 11

PreTest Information

Clinical History of Patient who is going for RPL26 Gene Diamond-Blackfan anemia type 11 NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with RPL26 Gene Diamond-Blackfan anemia type 11 NGS Genetic DNA Test gene RPL26

Detail Description

RPL26 Gene and Diamond-Blackfan Anemia Type 11: Symptoms, Diagnosis, and NGS Genetic DNA Test Cost

Diamond-Blackfan anemia (DBA) is a rare genetic blood disorder that affects the production of red blood cells in the bone marrow. It is caused by mutations in various genes, including the RPL26 gene. DBA type 11 is a specific subtype of the disorder that is associated with mutations in the RPL26 gene.

Symptoms of DBA type 11 can include fatigue, paleness, shortness of breath, and an increased risk of infections. These symptoms may appear in infancy or early childhood.

Diagnosis of DBA type 11 involves a combination of physical exams, blood tests, and genetic testing. A doctor may order a bone marrow biopsy to examine the patient's red blood cells and look for abnormalities. Genetic testing can confirm a diagnosis of DBA type 11 and identify the specific mutation in the RPL26 gene.

NGS genetic DNA testing is a powerful tool that can quickly and accurately identify mutations in the RPL26 gene. This test involves sequencing the patient's DNA and comparing it to a reference genome to identify any differences. NGS testing can detect mutations that other types of genetic testing may miss, making it a valuable tool for diagnosing DBA type 11.

The cost of NGS genetic DNA testing for DBA type 11 can vary depending on the provider and location. In India, the cost of this test is typically around INR 20,000. While this may seem like a significant expense, early diagnosis and treatment of DBA type 11 can help improve outcomes and quality of life for patients.

In conclusion, DBA type 11 is a rare genetic disorder that can be caused by mutations in the RPL26 gene. Symptoms may include fatigue, paleness, and an increased risk of infections. Diagnosis involves a combination of physical exams, blood tests, and genetic testing, including NGS genetic DNA testing. While the cost of this test may vary, it can be a valuable tool for accurately diagnosing DBA type 11 and helping patients receive appropriate treatment.