HBD

OMIMHGNC

Locus: 11p15.4

Protein: Delta-globin B2 variant

 

Disorders

Tests

Test Type
Molecular (10)
Multi-Gene Panel (5)
Multi-Method Panel (3)
Test Method
Del/Dup (CNV) (4)
Sequencing, Capillary (Sanger) (6)
Genotyping (Microarray, Beads, etc.) (2)
Sequencing, Next Gen (2)
Prenatal/Carrier
Prenatal (4)
Carrier (5)
Lab Location
USA(7)
Spain(1)
Germany(2)
 
TAT: 3-4 weeks
price: contact lab
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
TAT: 2-3 weeks
price: contact lab
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
TAT: ~2 weeks
price: contact lab
Beta Globin (HBB) Deletion/Duplication
method(s): ◦ Del/Dup (CNV) 
ARUP Laboratories, Molecular Genetics Laboratory - Salt Lake City, UT, USA
TAT: 7-10 days
price: contact lab
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
TAT: 7-10 days
price: contact lab
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
TAT: 11-12 weeks
price: contact lab
HBD Gene Sequencing
method(s): ◦ Sequencing, Capillary (Sanger) 
Cincinnati Children's Hospital Medical Center, Molecular Genetics Laboratory - Cincinnati, OH, USA
TAT: 4-6 weeks
price: contact lab
Erythrocytes, Anemia Panel
method(s): ◦ Sequencing, Next Gen 
CeGaT GmbH - Tübingen, Germany
TAT: 4-5 Weeks
price: contact lab
HBD
method(s): ◦ Sequencing, Next Gen ◦ Sequencing, Capillary (Sanger) ◦ Del/Dup (CNV) 
Fulgent Diagnostics - Temple City, CA, USA
TAT: ~2 weeks
price: contact lab
Thalassemia, delta
method(s): ◦ Sequencing, Capillary (Sanger) ◦ Del/Dup (CNV) 
Centogene AG, Rare Disease Company - Rostock, Germany