Beta Thalassemia

Test Information

Titre
Beta Thalassemia
Catégorie
Hematology
Test Name (CMS Title)
Beta Thalassemia
Gene/Platform/Region List

HBB, HBD, HbE, HBG1, HBG2

Test type
Samples Accepted
Blood, DNA
Indications
Diagnostics, 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

Dernière Mise à Jour: 09 décembre 2025