Beta thalassemia gene sequencing is typically ordered to diagnose beta thalassemia, a genetic disorder that can cause anemia, fatigue, jaundice, and other symptoms. The test may also be ordered to identify carriers of the beta thalassemia gene.
When this test is required
Beta thalassemia gene sequencing may be requested when a person has symptoms of beta thalassemia, such as anemia or fatigue. The test may also be requested when a person has a family history of beta thalassemia or when a couple is planning to have a child and wants to know their risk of passing on the beta thalassemia gene.
What the Test Detects
Beta thalassemia gene sequencing examines a person’s DNA to identify mutations in the beta globin gene that can cause beta thalassemia. The beta globin gene provides instructions for making beta globin, a protein that is a component of hemoglobin, the molecule that carries oxygen in the blood.
Preparation for the Test
No special preparation is needed for beta thalassemia gene sequencing.
Sample Requirements
Beta thalassemia gene sequencing requires a blood sample. In some cases, a saliva or tissue sample may be used.
Additional Notes
Beta thalassemia gene sequencing is a specialized test that requires expertise in genetics and molecular biology. The results must be interpreted by a healthcare provider with training in these areas. It is also important to note that the test may not identify all mutations that can cause beta thalassemia, particularly in rare or atypical cases.
