Alpha Thalassemia

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