Single Gene tests (Hemoglobinopathies)

Test Information

Titre
Single Gene tests (Hemoglobinopathies)
Lab
Catégorie
Hematology
Test Name (CMS Title)
Hemoglobin Diseases
Gene/Platform/Region List
HBA1,HBA2,HBB,HBD,HBE,HBG1,HBG2,HBZ,KLF1
Test type
Samples Accepted
Blood, DNA, Bone Marrow Aspirate, Dried Blood Spot
Indications
Diagnostics, Carrier Cascade Testing
Test Methodology
Sequencing
Methodology Notes
Direct Sequencing + MLPA
Disease/Condition
Thalassemia, Hemoglobin Variant, Sickle Cell Disease

Dernière Mise à Jour: 09 décembre 2025