Short Description

NGS genetic DNA test detecets for variant and mutation detection in EPB42 gene for Spherocytosis type 5

PreTest Information

Clinical History of Patient who is going for EPB42 Gene Spherocytosis type 5 NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with EPB42 Gene Spherocytosis type 5 NGS Genetic DNA Test gene EPB42

Detail Description

EPB42 Gene Spherocytosis Type 5 NGS Genetic DNA Test: Symptoms, Diagnosis, and Cost

Spherocytosis type 5 is a rare genetic disorder that affects the red blood cells. This disorder is caused by mutations in the EPB42 gene, which provides instructions for making a protein called band 4.2. This protein helps to maintain the shape and stability of red blood cells. Mutations in the EPB42 gene can cause the red blood cells to become spherical, which can lead to anemia and other health problems.

Symptoms of Spherocytosis Type 5

The symptoms of spherocytosis type 5 can vary from person to person. Some people may have no symptoms at all, while others may experience severe symptoms. The most common symptoms of spherocytosis type 5 include:

• Anemia
• Jaundice
• Fatigue
• Shortness of breath
• Pale skin
• Enlarged spleen

If you or a loved one is experiencing any of these symptoms, it is important to consult with a healthcare provider for proper diagnosis and treatment.

Diagnosis of Spherocytosis Type 5

The diagnosis of spherocytosis type 5 is typically made through a combination of physical examination, blood tests, and genetic testing. A healthcare provider may perform a physical exam to check for an enlarged spleen or other signs of the disorder. Blood tests can help to determine if the patient has anemia or other blood abnormalities. Genetic testing, such as NGS (Next Generation Sequencing), can be used to identify mutations in the EPB42 gene.

EPB42 Gene Spherocytosis Type 5 NGS Genetic DNA Test Cost

The cost of an EPB42 gene spherocytosis type 5 NGS genetic DNA test can vary depending on the provider and location. In India, the cost of this test is typically around INR 20,000. It is important to note that this cost may not include additional fees, such as consultation fees or follow-up visits with a healthcare provider.

Conclusion

Spherocytosis type 5 is a rare genetic disorder that can cause a range of symptoms, including anemia, jaundice, and fatigue. If you or a loved one is experiencing any of these symptoms, it is important to consult with a healthcare provider for proper diagnosis and treatment. Genetic testing, such as NGS, can be used to identify mutations in the EPB42 gene that may be causing the disorder. The cost of this test in India is typically around INR 20,000.

At DNA Labs India, we offer a range of genetic testing services, including NGS testing for spherocytosis type 5. Our team of experts is dedicated to providing accurate and reliable testing services to help patients and healthcare providers make informed decisions about their health. Contact us today to learn more about our services and how we can help.