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
|