Hereditary Persistence of Fetal Hemoglobin (HBG1 and HBG2 sequence analysis) method(s): ◦ Sequencing, Capillary (Sanger) Children's Hospital of Philadelphia, Division of Genomic Diagnostics - Philadelphia, PA, USA |
Hereditary Persistence of Fetal Hemoglobin (HBG1 and HBG2 analysis for a known point mutation) method(s): ◦ Sequencing, Capillary (Sanger) Children's Hospital of Philadelphia, Division of Genomic Diagnostics - Philadelphia, PA, USA |
Beta Globin (HBB) Deletion/Duplication method(s): ◦ Del/Dup (CNV) ARUP Laboratories, Molecular Genetics Laboratory - Salt Lake City, UT, USA |
Hemoglobin Lepore (HBD/HBB Fusion) 3 Mutations method(s): ◦ Genotyping (Microarray, Beads, etc.) ◦ Sequencing, Capillary (Sanger) ARUP Laboratories, Molecular Genetics Laboratory - Salt Lake City, UT, USA |
Hereditary Persistence of Fetal Hemoglobin (HPFH) 8 Mutations method(s): ◦ Genotyping (Microarray, Beads, etc.) ARUP Laboratories, Molecular Genetics Laboratory - Salt Lake City, UT, USA |
Delta Beta Thalassemia , Deletions (MLPA) HBB and HBD Genes method(s): ◦ Del/Dup (CNV) Reference Laboratory Genetics - Hospitalet de Llobregat, Spain |
HBD Gene Sequencing method(s): ◦ Sequencing, Capillary (Sanger) Cincinnati Children's Hospital Medical Center, Molecular Genetics Laboratory - Cincinnati, OH, USA |
Erythrocytes, Anemia Panel method(s): ◦ Sequencing, Next Gen CeGaT GmbH - Tübingen, Germany |
HBD method(s): ◦ Sequencing, Next Gen ◦ Sequencing, Capillary (Sanger) ◦ Del/Dup (CNV) Fulgent Diagnostics - Temple City, CA, USA |
Thalassemia, delta method(s): ◦ Sequencing, Capillary (Sanger) ◦ Del/Dup (CNV) Centogene AG, Rare Disease Company - Rostock, Germany |