Short Description

Sickle Cell Anemia is a multisystem disease associated with episodes of acute illness and progressive organ damage. Hemoglobin polymerization, leading to erythrocyte rigidity and vaso-occlusion, is central to the pathophysiology of the disease, but the importance of chronic anemia, hemolysis, and vasculopathy has been established. The most common cause of sickle cell anemia is the HbS variant. This test is useful for detection of mutations in the HBB gene linked to Sickle cell anemia. This assay check for maternal cell contamination in amniotic fluid.

PreTest Information

Duly filled Prenatal Genetic testing Consent Form (Form 18) and Genomics Clinical information requisition form (Form 20) is mandatory.

Detail Description

Sickle Cell Anemia Trio Prenatal Mutation Detection Test - DNA Labs India

Sickle Cell Anemia is a genetic disorder that affects the red blood cells in the body. It is caused by a mutation in the HBB gene that makes hemoglobin. Hemoglobin is a protein in the red blood cells that carries oxygen throughout the body. In Sickle Cell Anemia, the red blood cells become hard and sticky and form a crescent shape, which can block blood flow and cause severe pain and organ damage.

Symptoms of Sickle Cell Anemia

• Painful swelling of the hands and feet
• Frequent infections
• Delayed growth
• Vision problems
• Anemia
• Jaundice
• Fatigue

Diagnosis of Sickle Cell Anemia

Sickle Cell Anemia can be diagnosed with a blood test that checks for the HBB gene mutation. If you have a family history of Sickle Cell Anemia, it is recommended to get tested before planning for a pregnancy. If you are already pregnant, prenatal testing can be done to check for the HBB gene mutation in the fetus.

Sickle Cell Anemia Trio Prenatal Mutation Detection Test

The Sickle Cell Anemia Trio Prenatal Mutation Detection Test offered by DNA Labs India is a highly accurate test that checks for the HBB gene mutation in the fetus. This test is recommended for couples who are carriers of the Sickle Cell Anemia gene and are planning for a pregnancy. The test can also be done for couples who are already pregnant and want to know if their fetus has the Sickle Cell Anemia gene mutation.

Test Cost

The cost of the Sickle Cell Anemia Trio Prenatal Mutation Detection Test at DNA Labs India is INR 13,000.

Conclusion

Sickle Cell Anemia is a serious genetic disorder that can cause severe pain and organ damage. It is important to get tested for the HBB gene mutation if you have a family history of Sickle Cell Anemia or are planning for a pregnancy. The Sickle Cell Anemia Trio Prenatal Mutation Detection Test offered by DNA Labs India is a highly accurate test that can help you make informed decisions about your pregnancy.

Sickle Cell Anemia is a multisystem disease associated with episodes of acute illness and progressive organ damage. Hemoglobin polymerization, leading to erythrocyte rigidity and vaso-occlusion, is central to the pathophysiology of the disease, but the importance of chronic anemia, hemolysis, and vasculopathy has been established. The most common cause of sickle cell anemia is the HbS variant. This test is useful for detection of mutations in the HBB gene linked to Sickle cell anemia. This assay check for maternal cell contamination in amniotic fluid.