Short Description

This test is useful for detection of mutations in the HBB gene linked to Beta Thalassemia. This assay detects more than 100 different mutations in the Promoter region, Exon 1, IVS-I & Exon 2 and part of IVS-II OF THE HBB Gene. It also detects the deletion of 690 bp in IVS II and Exon 3. . This assay checks for maternal cell contamination in amniotic fluid.

PreTest Information

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

Detail Description

THALASSEMIA BETA TRIO PRENATAL MUTATION DETECTION Test

Thalassemia is a genetic disorder that affects the production of hemoglobin, a protein found in red blood cells that carries oxygen throughout the body. Thalassemia Beta Trio Prenatal Mutation Detection Test is a diagnostic test used to detect mutations in the beta-globin gene, which is responsible for making the beta chain of hemoglobin. This test is performed during pregnancy to determine if the fetus has inherited the thalassemia gene from the parents.

Symptoms and Diagnosis

The symptoms of thalassemia vary depending on the severity of the condition. Mild cases may not present with any symptoms, while severe cases can cause anemia, fatigue, jaundice, bone deformities, and growth retardation. Thalassemia is diagnosed through a blood test that measures the amount of hemoglobin and red blood cells in the body. A genetic test is also used to confirm the diagnosis and determine the type and severity of the thalassemia.

Test Cost

The cost of Thalassemia Beta Trio Prenatal Mutation Detection Test in India is INR 21,060. The cost may vary depending on the location and the laboratory where the test is performed. It is important to consult with a healthcare provider to determine if this test is necessary and to find an accredited laboratory that performs the test.

Conclusion

Thalassemia Beta Trio Prenatal Mutation Detection Test is an important diagnostic tool for couples who are carriers of the thalassemia gene and are planning to have children. This test can detect mutations in the beta-globin gene during pregnancy, allowing parents to make informed decisions about the future of their child. It is important to consult with a healthcare provider and find an accredited laboratory to perform the test. Early diagnosis and treatment of thalassemia can improve the quality of life for those affected by the condition.

At DNA Labs India, we offer a wide range of genetic tests, including Thalassemia Beta Trio Prenatal Mutation Detection Test, at an affordable cost. Our team of experienced professionals is committed to providing accurate and timely results to our clients. Contact us today to learn more about our services and to schedule an appointment.

THALASSEMIA BETA TRIO PRENATAL MUTATION DETECTION Test cost INR:21060 symptoms diagnosis | DNA Labs India

This test is useful for detection of mutations in the HBB gene linked to Beta Thalassemia. This assay detects more than 100 different mutations in the Promoter region, Exon 1, IVS-I & Exon 2 and part of IVS-II OF THE HBB Gene. It also detects the deletion of 690 bp in IVS II and Exon 3. . This assay checks for maternal cell contamination in amniotic fluid.