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Beta Thalassemia (Prenatal + Parental Testing) – 30 Mutations
Also known as: Beta Thalassemia (Prenatal + Parental Testing ) - 30 Mutation Panel, Amniotic Fluid/EDTA Blood
No special precautions
Sample Type
Blood
Recommended for
Male, Female
Report
Within 24 Hours
Blood test at Home
NABL & CAP Accredited Labs
Accurate & Quality Test Reports
Trusted by Leading Doctors & Hospitals
Overview
Beta thalassemia is a genetic blood disorder characterised by reduced or absent production of haemoglobin. It is caused by rare, disease-causing mutations in the HBB gene, which provides instructions to the body for making a protein called beta-globin. Beta Thalassemia Prenatal and Parental Testing is a comprehensive genetic test that involves both prenatal and parental testing. It utilizes Sanger sequencing and PCR fragment analysis techniques to identify 30 mutations associated with beta thalassemia in the HBB gene. This test has a high detection rate of 97-99% for disease-causing as well as rare mutations. Beta thalassemia is an inherited blood disorder characterized by reduced or absent production of beta-globin chains, leading to abnormal hemoglobin production. The test is offered to couples who are carriers of beta thalassemia or have a family history of the condition. By analyzing samples from both the fetus (prenatal testing) and the parents (parental testing), this comprehensive approach allows for early detection and assessment of the risk of beta thalassemia. It enables parents to make informed decisions about their pregnancy, plan appropriate medical interventions or treatments, and provides accurate genetic counseling based on the identified hemoglobin variants and the most common beta thalassemia sequence variants.
Beta Thalassemia (Prenatal + Parental Testing ) - 30 Mutation Panel, Amniotic Fluid/EDTA Blood Price
Metropolis Healthcare is a leading diagnostics centre and pathology lab in India equipped with the latest state-of-the-art technologies that provides the Beta Thalassemia (Prenatal + Parental Testing ) - 30 Mutation Panel, Amniotic Fluid/EDTA Blood with a clear pricing structure.
The Beta Thalassemia (Prenatal + Parental Testing ) - 30 Mutation Panel, Amniotic Fluid/EDTA Blood Price in Mumbai is ₹ 19,610 .
We are committed to deliver accurate and quality results from the best labs in India with complete transparency regarding test cost and turnaround time. No matter where you are, we strive to offer patients high-quality service that is affordable and accessible.
Frequently Asked Questions
This test detects 97-99% of disease-causing as well as rare mutations in the HBB gene.
• Screening for carrier status of beta thalassemia in parents • Assessing the risk of having a child with beta thalassemia • Confirming a prenatal diagnosis of beta thalassemia and determining its severity • Assisting in genetic counselling and family planning decisions
This test is recommended for individuals with • Family history of beta thalassemia or known carrier status. • Symptoms suggestive of beta thalassemia, such as anaemia, fatigue, or abnormal blood cell counts. • A need for prenatal diagnosis in case of pregnancy where one or both parents are carriers.
Abnormal results may suggest an increased risk of having a child with beta thalassemia.
During this test: • Amniotic fluid or chorionic villus samples are collected for prenatal testing. • Blood samples from the mother are collected for parental testing. • Samples are shipped to the laboratory for analysis.
Before undergoing this test: • Clinical indication and family history need to be provided. • Amniotic fluid or chorionic villus samples need to be collected as per guidelines. • The mother's blood sample needs to be collected within the specified time frame. • Duly signed consent forms as per PCPNDT must be submitted. Please reach out to your healthcare provider for any specific requirements.
Other tests that may be ordered alongside the Beta Thalassemia (Prenatal + Parental Testing) – 30 Mutations include: • Complete blood count (CBC): To assess red blood cell counts and morphology • Haemoglobin electrophoresis: To identify different types of haemoglobin present • Iron studies: To evaluate iron levels in the body
Prenatal and Parental Testing for Beta Thalassemia 30 Mutations, Beta Thalassemia Genetic Testing (Prenatal + Parental) 30 Mutations
Beta thalassemia is an inherited blood disorder characterised by reduced or absent production of haemoglobin, the protein responsible for carrying oxygen in red blood cells. It results from mutations in the HBB gene, which leads to abnormal haemoglobin production. Beta thalassemia can cause anemia and other complications if left untreated.
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We offer a comprehensive range of 4000+ clinical laboratory tests and profiles, which are used for prediction, early detection, diagnostic screening, confirmation and/or monitoring of the disease.
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