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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