Your Cart
Your cart is empty

Looks like you haven't added any test / checkup to your cart

Add Test / Checkup
User Sign In Health checkup offers

Beta Thalassemia - Beta Globin Full Gene Sequencing -PNDT - Price, Normal Range | Sprint Diagnostics Hyderabad

  • Home
  • Hyderabad
  • Lab Test
  • Beta Thalassemia - Beta Globin Full Gene Sequencing (> than 50 Mutations) - PNDT

Beta Thalassemia is a genetic blood disorder characterized by a reduction in the production of hemoglobin. Hemoglobin is the iron-containing protein in red blood cells that carries oxygen to cells throughout the body. In people with Beta Thalassemia, low levels of hemoglobin lead to a lack of oxygen in many parts of the body, which can cause a variety of complications.

Beta Globin Full Gene Sequencing is an advanced genetic test that looks for mutations in the HBB gene, which provides instructions for making a component of hemoglobin called the beta-globin chain. Over 50 mutations can be identified through this sequencing, which is essential in diagnosing the various forms of Beta Thalassemia.

PNDT stands for Pre-Natal Diagnostic Techniques. This indicates that this particular test can be used to diagnose Beta Thalassemia in the fetus during pregnancy.

  • Test Name Beta Thalassemia - Beta Globin Full Gene Sequencing (> than 50 Mutations) - PNDT
  • Sample Type CVS/ Amniotic fluid/Cord Blood CVS/ Amniotic fluid/Cord Blood
  • Preparations RequiredThere are no specific preparations needed for this test. However, it is important to inform the doctor about any medications or supplements being taken as they may interfere with the test results.
  • Report Time7days

Home Sample Collection Process

Book your convenient slot
Book your convenient slot
Sample Collection by Phlebotomist
Sample Collection by Phlebotomist
Reporting of the sample at lab
Reporting of the sample at lab
Download Reports
Download Reports
Frequently Asked Questions

Symptoms include fatigue, weakness, pale skin, facial bone deformities, slow growth, abdominal swelling, and dark urine.

There are three main types: Thalassemia Minor (or Thalassemia Trait), which is the mildest form; Thalassemia Intermedia, which is of moderate severity; and Thalassemia Major (or Cooley’s Anemia), which is the most severe form.

Beta Thalassemia is inherited in an autosomal recessive pattern, meaning that the child must inherit two mutated genes, one from each parent, to have the disease. If only one mutated gene is inherited, the child will be a carrier.

It is diagnosed through blood tests, including a complete blood count (CBC) and hemoglobin electrophoresis, and genetic testing like Beta Globin Full Gene Sequencing.

Detecting multiple mutations helps to ascertain the severity and type of Beta Thalassemia, which is vital for management and treatment planning.

There is no cure for Beta Thalassemia. However, treatments such as blood transfusions and iron chelation therapy can help manage the symptoms.

Prenatal testing is done to determine whether the fetus has inherited Beta Thalassemia. This information can be critical for families with a history of the disease in making informed decisions regarding the pregnancy.

Prenatal testing usually involves obtaining a sample of amniotic fluid or tissue from the placenta for Beta Globin Full Gene Sequencing.

Beta Thalassemia cannot be prevented, but with genetic counseling, couples at risk can understand the chances of having a child with the condition.

Treatment depends on the severity and may include regular blood transfusions, iron chelation therapy, folic acid supplements, and in severe cases, a bone marrow transplant.

Individuals with Beta Thalassemia should consult a doctor for specific dietary recommendations. Generally, a healthy diet with adequate nutrients is recommended.

Beta Thalassemia can affect lifestyle in various ways including regular hospital visits for blood transfusions, daily medications, and limitations on physical activities.

Iron chelation therapy is used to remove excess iron from the body, which can build up as a result of regular blood transfusions.

With proper management and care, individuals with Beta Thalassemia can have a near-normal lifespan. However, complications can arise, which need to be managed promptly.

If the test results are abnormal, it is advisable to consult a hematologist for expert advice and management.

Beta Thalassemia is a significant genetic disorder that requires careful management. Through advancements in genetic testing like Beta Globin Full Gene Sequencing, it is now possible to diagnose this condition accurately and even before birth. This information is critical for affected individuals and their families to plan for the necessary treatment and management to improve the quality of life.

Beta Thalassemia - beta globin full gene sequencing (> than 50 Mutations) - PNDT
₹ 12000
Schedule Test in Your Available Time
Locations Near You in Hyderabad
  • 4KM from Madhapur
  • 3KM from Banjara Hills
  • 1.9KM from Yusufguda
  • 3KM from Madhura Nagar
  • 5KM from Shaikpet