Test Information |
Test Name |
Alpha Thalassemia |
Lab (Location) |
Hamilton Health Sciences Centre |
Category |
Hematology |
Subcategory |
Alpha Thalassemia |
Gene/Platform/Region List |
HBA1, HBA2, HBZ
|
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 |
Alpha Thalassemia, Alpha thalassemia silent carrier, Alpha thalassemia minor (trait), Hemoglobin H (HbH) disease, Hemoglobin H-Constant Spring, Hb Bart's hydrops fetalis
|