Beta Thalassemia

Test Information

Title
Beta Thalassemia
Lab
Category
Hematology
Test Name (CMS Title)
Beta Thalassemia
Gene/Platform/Region List

HBB, HBD, HbE, HBG1, HBG2

Test type
Samples Accepted
Blood, DNA
Indications
Diagnosis, Carrier Cascade Testing
Test Methodology
Sequencing
Methodology Notes

Direct Exon Sequencing + MLPA

Disease/Condition

Beta Thalassemia, beta thalassemia major (Cooley's Anemia), Mediterranean Anemia, beta thalassemia intermedia, beta thalassemia minor (beta thalassemia trait), dominant beta thalassemia

Last Updated: November 14, 2025

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