About the Beta Thalassemia DNA Test
The Beta Thalassemia DNA test identifies the common deletions and nucleotide variants seen in the HBB gene.
This test will indicate whether the HBB gene is normal (β), carries a β+ mutation that results in reduced β-globin production or carries a β0 mutation (no β-globin production).
What is the HBB gene?
The HBB gene encodes the β-globin component of hemoglobin. Normal adult hemoglobin (HbA) is composed of two α-globin chains and two β-globin chains. The HBB gene is located on Chromosome 11. We inherit one copy of HBB from each parent. The Beta Thalassemia DNA Test will determine whether or not each copy of the HBB gene contains a mutation that causes β-thalassemia.
None. This test can be taken at any age.
Buccal swabs. The test kit contains buccal swabs and instructions for collecting a buccal swab sample from inside the mouth.
Four buccal swabs, rubbed inside the mouth against the cheek for 15 seconds.
1 – 2 weeks.
Genetic mutations in the HBB gene.
Sequence Based Typing (SBT)
DNA test kits do not have an expiry date and can be used at any time. Once the DNA sample is collected, it must be returned to the laboratory for testing within three months of collection. No refrigeration is required. Store at room temperature.
This test will only look at the most common mutations in HBB that are associated with β-thalassemia. There are other mutations associated with β-thalassemia that are not tested in this assay. The results of this assay should be interpreted in conjunction with symptoms, clinical findings and medical and family history.
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