Beta Thalassemia

Test Information
Test Name Beta Thalassemia
Lab (Location) Hamilton Health Sciences Centre
Category Hematology
Subcategory Beta Thalassemia
Gene/Platform/Region List HBB, HBD, HBE, HBG1, HBG2
Test type Gene Panel
Samples Accepted Blood, DNA, Cultured Cells, Amniocyte, CVS
Indications Diagnosis Diagnosis, Carrier / Cascade Testing, Prenatal
Test Methodology CNV, Sequencing
Methodology Notes Direct Exon Sequencing + MLPA
Diseases/Conditions Beta Thalassemia, beta thalassemia major, Cooley's Anemia, Mediterranean Anemia, beta thalassemia intermedia, beta thalassemia minor (beta thalassemia trait), dominant beta thalassemia