Single Gene tests (Hemoglobinopathies)
| Test Information | |
|---|---|
| Test Name | Single Gene tests (Hemoglobinopathies) |
| Lab (Location) | Hamilton Health Sciences Centre |
| Category | Hematology |
| Subcategory | Hemoglobin Diseases |
| Gene/Platform/Region List | HBA1,HBA2,HBB,HBD,HBE,HBG1,HBG2,HBZ,KLF1 |
| Test type | Gene Panel |
| Samples Accepted | Blood, DNA, Cultured Cells, Amniocyte, CVS, Bone Marrow Aspirate, Dried Blood Spot |
| Indications Diagnosis | Diagnosis, Carrier / Cascade Testing, Prenatal |
| Test Methodology | CNV, Sequencing |
| Methodology Notes | Direct Sequencing + MLPA |
| Diseases/Conditions | Thalassemia, Hemoglobin Variant, Sickle Cell Disease |