Single Gene tests (Hemoglobinopathies)

Test Information

Title
Single Gene tests (Hemoglobinopathies)
Lab
Category
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
Diagnosis, Carrier Cascade Testing
Test Methodology
Sequencing
Methodology Notes
Direct Sequencing + MLPA
Disease/Condition
Thalassemia, Hemoglobin Variant, Sickle Cell Disease

Last Updated: November 14, 2025

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