Short Description

NGS genetic DNA test detecets for variant and mutation detection in CUBN gene for Megaloblastic anemia type 1, Finnish type

PreTest Information

Clinical History of Patient who is going for CUBN Gene Megaloblastic anemia type 1, Finnish type NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with CUBN Gene Megaloblastic anemia type 1, Finnish type NGS Genetic DNA Test gene CUBN

Detail Description

CUBN Gene Megaloblastic Anemia Type 1, Finnish Type NGS Genetic DNA Test Cost INR 20,000

Megaloblastic anemia is a type of anemia that is characterized by the presence of abnormally large and immature red blood cells in the bloodstream. This condition is caused by a deficiency of vitamin B12 or folic acid, which are essential for the production of healthy red blood cells.

There are several types of megaloblastic anemia, and one of them is known as megaloblastic anemia type 1, Finnish type. This condition is caused by mutations in the CUBN gene, which is responsible for the absorption of vitamin B12 in the small intestine. Individuals with this condition are unable to absorb vitamin B12 properly, which leads to a deficiency of this vital nutrient and the development of megaloblastic anemia.

Symptoms of Megaloblastic Anemia Type 1, Finnish Type

The symptoms of megaloblastic anemia type 1, Finnish type are similar to those of other types of megaloblastic anemia. These symptoms include:

• Fatigue and weakness
• Shortness of breath
• Pale skin
• Headache
• Dizziness
• Loss of appetite
• Nausea
• Weight loss
• Irritability
• Tingling or numbness in the hands and feet

Diagnosis of Megaloblastic Anemia Type 1, Finnish Type

Megaloblastic anemia type 1, Finnish type can be diagnosed through a blood test that measures the levels of vitamin B12 and folic acid in the bloodstream. In addition, genetic testing can be used to identify mutations in the CUBN gene that are associated with this condition.

NGS Genetic DNA Test for Megaloblastic Anemia Type 1, Finnish Type

NGS (Next Generation Sequencing) genetic testing is a powerful tool that can be used to identify genetic mutations associated with a wide range of conditions, including megaloblastic anemia type 1, Finnish type. This test involves the sequencing of the entire genome, allowing for the detection of even rare genetic mutations that may be missed by other forms of genetic testing.

The cost of NGS genetic testing for megaloblastic anemia type 1, Finnish type in India is approximately INR 20,000. This test is typically covered by insurance, and it can provide valuable information for individuals who have a family history of megaloblastic anemia or who are experiencing symptoms of this condition.

Conclusion

Megaloblastic anemia type 1, Finnish type is a rare genetic condition that can cause serious health problems if left untreated. Fortunately, advances in genetic testing have made it easier than ever to identify mutations in the CUBN gene that are associated with this condition, allowing for earlier diagnosis and treatment. If you or a loved one is experiencing symptoms of megaloblastic anemia, talk to your doctor about the possibility of genetic testing and other diagnostic options.

Remember, early detection and treatment is key to managing megaloblastic anemia type 1, Finnish type and reducing the risk of complications.

At DNA Labs India, we offer a wide range of genetic testing services, including NGS genetic testing for megaloblastic anemia type 1, Finnish type. Contact us today to learn more about our testing options and how we can help you get the answers you need.