Short Description

NGS genetic DNA test detecets for variant and mutation detection in GPI gene for Hemolytic anemia, nonspherocytic, due to glucose phosphate isomerase deficiency

PreTest Information

Clinical History of Patient who is going for GPI Gene Hemolytic anemia, nonspherocytic, due to glucose phosphate isomerase deficiency NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with Hemolytic anemia, nonspherocytic, due to glucose phosphate isomerase deficiency

Detail Description

GPI Gene Hemolytic Anemia, Nonspherocytic, Due to Glucose Phosphate Isomerase Deficiency NGS Genetic DNA Test Cost INR:20000 Symptoms Diagnosis

GPI Gene Hemolytic Anemia, Nonspherocytic, Due to Glucose Phosphate Isomerase Deficiency is a rare genetic disorder that affects the red blood cells in the body. This disorder is caused by a mutation in the GPI gene, which is responsible for producing the glucose phosphate isomerase enzyme. This enzyme is important for the metabolism of glucose in the body and its deficiency can lead to the breakdown of red blood cells and anemia.

Symptoms

The symptoms of GPI Gene Hemolytic Anemia, Nonspherocytic, Due to Glucose Phosphate Isomerase Deficiency can vary from person to person. Some common symptoms include:

• Jaundice
• Fatigue
• Shortness of breath
• Pale skin
• Splenomegaly (enlarged spleen)
• Gallstones

Diagnosis

The diagnosis of GPI Gene Hemolytic Anemia, Nonspherocytic, Due to Glucose Phosphate Isomerase Deficiency is usually made through a blood test. This test measures the levels of glucose phosphate isomerase in the blood and can also detect any mutations in the GPI gene. A bone marrow biopsy may also be performed to confirm the diagnosis.

NGS Genetic DNA Test

NGS Genetic DNA Test is a high-throughput sequencing technology that can sequence millions of DNA fragments simultaneously. This test is used to identify mutations in the GPI gene and can help in the diagnosis of GPI Gene Hemolytic Anemia, Nonspherocytic, Due to Glucose Phosphate Isomerase Deficiency. The cost of NGS Genetic DNA Test in India is around INR 20000.

Conclusion

GPI Gene Hemolytic Anemia, Nonspherocytic, Due to Glucose Phosphate Isomerase Deficiency is a rare genetic disorder that can cause anemia and other symptoms. The diagnosis of this disorder is usually made through a blood test and a bone marrow biopsy. NGS Genetic DNA Test can also be used to identify mutations in the GPI gene. The cost of this test in India is around INR 20000.

If you suspect that you or someone you know may have GPI Gene Hemolytic Anemia, Nonspherocytic, Due to Glucose Phosphate Isomerase Deficiency, it is important to seek medical attention right away. Early diagnosis and treatment can help manage the symptoms of this disorder and improve the quality of life for those affected.

For more information on GPI Gene Hemolytic Anemia, Nonspherocytic, Due to Glucose Phosphate Isomerase Deficiency and NGS Genetic DNA Test, contact DNA Labs India.