HBB

OMIMHGNC

Synonym(s): CD113t-C, HBD, beta-globin

Locus: 11p15.5

Protein: Hemoglobin beta subunit variant

 

Disorders

Tests

Test Type
Biochemical (1)
Molecular (75)
Panel (7)
Test Method
Del/Dup (CNV) (10)
Mutation Scanning of Select Exons (2)
Mutation Scanning of Entire Coding Region (4)
Quantitative Biochemical Analysis (1)
Sequencing, Capillary (Sanger) (44)
Genotyping (Microarray, Beads, etc.) (18)
Repeat Expansion / Contraction (1)
Gene Expression Analysis (2)
Sequencing, Next Gen (4)
Prenatal/Carrier
Prenatal (26)
Carrier (40)
Lab Location
USA(36)
Portugal(4)
Estonia(1)
Poland(7)
Turkey(4)
Germany(10)
Spain(5)
Singapore(1)
Canada(2)
Australia(1)
India(3)
Brazil(1)
 
TAT: 4-6 weeks
price: contact lab
Beta-Thalassemia Test
method(s): ◦ Sequencing, Capillary (Sanger) 
Asper Biotech Ltd., Asper Biotech - Tartu, Estonia
TAT: ~2 weeks
price: contact lab
Beta Globin full gene sequencing
method(s): ◦ Sequencing, Capillary (Sanger) 
Detroit Medical Center University Laboratories, Molecular Genetics Diagnostic Laboratory - Detroit, MI, USA
TAT: 1 week
price: contact lab
Beta-thalassaemia gene mapping
method(s): ◦ Mutation Scanning of Select Exons ◦ Sequencing, Capillary (Sanger) 
Molecular Diagnosis Centre, Department of Laboratory Medicine, National University Hospital - Singapore, Singapore
Hemoglobin SC Test
method(s): ◦ Sequencing, Capillary (Sanger) 
Hospital Sainte-Justine, Molecular Diagnostics Laboratory - Montreal, Canada
Hemoglobin SS Test
method(s): ◦ Sequencing, Capillary (Sanger) 
Hospital Sainte-Justine, Molecular Diagnostics Laboratory - Montreal, Canada
TAT: 2-3 weeks
price: contact lab
Ashkenazi Jewish Carrier Multi-Gene Expanded Panel
method(s): ◦ Genotyping (Microarray, Beads, etc.) 
Natera - San Carlos, CA, USA
Sickle Cell Anemia Test (the HBB gene - entire)
method(s): ◦ Sequencing, Capillary (Sanger) 
GENESIS Center for Medical Genetics, Laboratory of Molecular Genetics - Poznan, Poland
Sickle Cell Anemia Test (the HBB gene - exons: 1,3)
method(s): ◦ Sequencing, Capillary (Sanger) 
GENESIS Center for Medical Genetics, Laboratory of Molecular Genetics - Poznan, Poland
Sickle Cell Anemia Test (the HBB gene - exon 2)
method(s): ◦ Sequencing, Capillary (Sanger) 
GENESIS Center for Medical Genetics, Laboratory of Molecular Genetics - Poznan, Poland
EndoPredict® Test
method(s): ◦ Gene Expression Analysis 
Genetic Technologies Pty Ltd - Victoria, Australia
TAT: 4 weeks
price: contact lab
Comprehensive Globin Gene Analysis
method(s): ◦ Sequencing, Capillary (Sanger) ◦ Del/Dup (CNV) 
Cincinnati Children's Hospital Medical Center, Molecular Genetics Laboratory - Cincinnati, OH, USA
TAT: 4 weeks
price: contact lab
HBB Gene Sequencing
method(s): ◦ Sequencing, Capillary (Sanger) 
Cincinnati Children's Hospital Medical Center, Molecular Genetics Laboratory - Cincinnati, OH, USA
TAT: 4 weeks
price: contact lab
HBB Deletion Analysis
method(s): ◦ Del/Dup (CNV) 
Cincinnati Children's Hospital Medical Center, Molecular Genetics Laboratory - Cincinnati, OH, USA
TAT: 3-4 weeks
price: contact lab
Sickle Cell Disease
method(s): ◦ Genotyping (Microarray, Beads, etc.) 
Baylor College of Medicine, Medical Genetics Laboratories - Houston, TX, USA
TAT: 1 week
price: contact lab
Beta-Thalassemias (Hemoglobin Beta Gene) Sequence Analysis
method(s): ◦ Sequencing, Capillary (Sanger) 
Biyolojik Bilimler Arastirma Gelistirme ve Uretim AS, Duzen Laboratuvarlar Grubu - Istanbul, Turkey
TAT: 1 week
price: contact lab
HBB Mutation Analysis
method(s): ◦ Genotyping (Microarray, Beads, etc.) 
Biyolojik Bilimler Arastirma Gelistirme ve Uretim AS, Duzen Laboratuvarlar Grubu - Istanbul, Turkey
TAT: 4-6 weeks
price: contact lab
Beta Thalassemia deletion/duplication analysis
method(s): ◦ Del/Dup (CNV) 
Children's Hospital of Philadelphia, Division of Genomic Diagnostics - Philadelphia, PA, USA
TAT: 2-3 weeks
price: contact lab
Beta Thalassemia 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
Beta Thalassemia analysis for a known point mutation
method(s): ◦ Sequencing, Capillary (Sanger) 
Children's Hospital of Philadelphia, Division of Genomic Diagnostics - Philadelphia, PA, USA
TAT: 2-3 weeks
price: contact lab
Sickle Cell Anemia (HBB sequence analysis)
method(s): ◦ Sequencing, Capillary (Sanger) 
Children's Hospital of Philadelphia, Division of Genomic Diagnostics - Philadelphia, PA, USA
Beta-Thalassemia (HBB)
method(s): ◦ Sequencing, Capillary (Sanger) ◦ Del/Dup (CNV) 
MVZ Dortmund Dr. Eberhard and Partner - Dortmund, Germany
Hemoglobin E (HbE, HBB)
method(s): ◦ Sequencing, Capillary (Sanger) 
MVZ Dortmund Dr. Eberhard and Partner - Dortmund, Germany
Hemoglobin S Beta-Thalassemia (HbS, HBB)
method(s): ◦ Sequencing, Capillary (Sanger) 
MVZ Dortmund Dr. Eberhard and Partner - Dortmund, Germany
Hemoglobin SC disease (HbS/HbC, HBB)
method(s): ◦ Sequencing, Capillary (Sanger) 
MVZ Dortmund Dr. Eberhard and Partner - Dortmund, Germany
Hemoglobin SD disease (HbS/HbD, HBB)
method(s): ◦ Sequencing, Capillary (Sanger) 
MVZ Dortmund Dr. Eberhard and Partner - Dortmund, Germany
Hemoglobin SO-Arab disease (HbS/HbO Arab, HBB)
method(s): ◦ Sequencing, Capillary (Sanger) 
MVZ Dortmund Dr. Eberhard and Partner - Dortmund, Germany
Sickle cell disease (Hemoglobin SS, HBB)
method(s): ◦ Sequencing, Capillary (Sanger) 
MVZ Dortmund Dr. Eberhard and Partner - Dortmund, Germany
TAT: 2 weeks
price: contact lab
Sickle Cell Disease: HbS and HbC Mutations
method(s):
Emory University School of Medicine, Emory Molecular Genetics Laboratory - Atlanta, GA, USA
TAT: 2 weeks
price: $720.00
Beta Thalassemia
method(s): ◦ Sequencing, Capillary (Sanger) ◦ Repeat Expansion / Contraction 
Johns Hopkins Hospital, DNA Diagnostic Laboratory - Baltimore, MD, USA
TAT: 2 weeks
price: $302.00
HbS / HbC
method(s): ◦ Sequencing, Capillary (Sanger) 
Johns Hopkins Hospital, DNA Diagnostic Laboratory - Baltimore, MD, USA
TAT: 3-4 weeks
price: $490.00
Beta-Thalassemia and Hemoglobinopathy via the HBB Gene
method(s): ◦ Sequencing, Capillary (Sanger) 
PreventionGenetics (Prevention Genetics), Clinical DNA Testing and DNA Banking - Marshfield, WI, USA
TAT: 4-5 weeks
price: contact lab
Sanger sequencing of the HBB gene
method(s): ◦ Mutation Scanning of Entire Coding Region ◦ Sequencing, Capillary (Sanger) 
Sistemas Genomicos, Medical Genetics Unit - Paterna, Spain
TAT: 1-2 weeks
price: contact lab
Beta Thalassemia Sequencing
method(s): ◦ Sequencing, Capillary (Sanger) 
Stanford Clinical Laboratories, Molecular Pathology Laboratory - Palo Alto, CA, USA
TAT: 2-3 weeks
price: contact lab
HBB Gene Sequencing and Del/Dup
method(s): ◦ Sequencing, Capillary (Sanger) ◦ Del/Dup (CNV) 
Center for Human Genetics and Laboratory Medicine Martinsried, Molecular Genetics - Martinsried, Germany
TAT: 2-3 weeks
price: contact lab
Cardiac DNA Inisight
method(s): ◦ Genotyping (Microarray, Beads, etc.) 
Pathway Genomics Corporation - San Diego, CA, USA
Beta-Thalassemia Test (the HBB gene - exon 2)
method(s): ◦ Sequencing, Capillary (Sanger) 
GENESIS Center for Medical Genetics, Laboratory of Molecular Genetics - Poznan, Poland
TAT: ~2 weeks
price: contact lab
Thalassemia
method(s):
GeneTech - Hyderabad, India
Beta Globin Sequencing
method(s): ◦ Sequencing, Capillary (Sanger) 
GeneTech - Hyderabad, India
TAT: 1-2 weeks
price: contact lab
Sickle Cell Anemia
method(s):
GeneTech - Hyderabad, India
Beta-Thalassemia Test (the HBB gene - exons: 1,3)
method(s): ◦ Sequencing, Capillary (Sanger) 
GENESIS Center for Medical Genetics, Laboratory of Molecular Genetics - Poznan, Poland
Beta-Thalassemia Test (the HBB gene - entire)
method(s): ◦ Sequencing, Capillary (Sanger) 
GENESIS Center for Medical Genetics, Laboratory of Molecular Genetics - Poznan, Poland
Sickle-Cell Anemia, Mutation (Glu6Val) HBB Gene
method(s): ◦ Mutation Scanning of Entire Coding Region 
Reference Laboratory Genetics - Barcelona, Spain
TAT: 7-10 days
price: contact lab
Beta Thalassemia
method(s): ◦ Genotyping (Microarray, Beads, etc.) 
Recombine - Livingston, NJ, USA
TAT: 7-10 days
price: contact lab
Hemoglobinopathy: Hb C
method(s): ◦ Genotyping (Microarray, Beads, etc.) 
Recombine - Livingston, NJ, USA
TAT: 7-10 days
price: contact lab
Hemoglobinopathy: Hb D
method(s): ◦ Genotyping (Microarray, Beads, etc.) 
Recombine - Livingston, NJ, USA
TAT: 7-10 days
price: contact lab
Hemoglobinopathy: Hb E
method(s): ◦ Genotyping (Microarray, Beads, etc.) 
Recombine - Livingston, NJ, USA
TAT: 7-10 days
price: contact lab
Hemoglobinopathy: Hb O
method(s): ◦ Genotyping (Microarray, Beads, etc.) 
Recombine - Livingston, NJ, USA
TAT: 7-10 days
price: contact lab
Sickle-Cell Anemia
method(s): ◦ Genotyping (Microarray, Beads, etc.) 
Recombine - Livingston, NJ, 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
Beta Globin (HBB) HbS, HbC, and HbE Mutations
method(s): ◦ Genotyping (Microarray, Beads, etc.) 
ARUP Laboratories, Molecular Genetics Laboratory - Salt Lake City, UT, USA
TAT: 7-10 days
price: contact lab
Beta Globin (HBB) HbS, HbC, and HbE Mutations, Fetal
method(s): ◦ Genotyping (Microarray, Beads, etc.) 
ARUP Laboratories, Molecular Genetics Laboratory - Salt Lake City, UT, USA
TAT: 2-3 weeks
price: contact lab
Beta Globin (HBB) Gene Sequencing
method(s): ◦ Sequencing, Capillary (Sanger) 
ARUP Laboratories, Molecular Genetics Laboratory - Salt Lake City, UT, USA
TAT: 7-10 days
price: contact lab
Beta Globin (HBB) Sequencing, Fetal
method(s): ◦ Sequencing, Capillary (Sanger) 
ARUP Laboratories, Molecular Genetics Laboratory - Salt Lake City, UT, USA
TAT: 4-5 weeks
price: contact lab
Beta Globin (HBB) Sequencing and Deletion/Duplication
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Capillary (Sanger) 
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
Hemoglobin Evaluation Reflexive Cascade
method(s): ◦ Quantitative Biochemical Analysis ◦ Sequencing, Capillary (Sanger) 
ARUP Laboratories, Molecular Genetics Laboratory - Salt Lake City, UT, USA
Beta Thalassemia, Frequent Mutations HBB Gene
method(s): ◦ Mutation Scanning of Entire Coding Region 
Reference Laboratory Genetics - Barcelona, Spain
Beta Thalassemia, Sequencing HBB Gene
method(s): ◦ Sequencing, Capillary (Sanger) 
Reference Laboratory Genetics - Barcelona, Spain
Delta Beta Thalassemia , Deletions (MLPA) HBB and HBD Genes
method(s): ◦ Del/Dup (CNV) 
Reference Laboratory Genetics - Barcelona, Spain
Inherited Disease Panel
method(s): ◦ Sequencing, Next Gen 
Genomic Laboratory of the DNA Research Center LTD (Centrum Badań DNA sp z o.o.) - Poznań, Poland
Sickle cell anemia
method(s): ◦ Del/Dup (CNV) ◦ Genotyping (Microarray, Beads, etc.) ◦ Sequencing, Capillary (Sanger) 
CGC Genetics - Porto, Portugal
Beta-thalassemia (sequence analysis of HBB gene)
method(s): ◦ Sequencing, Capillary (Sanger) 
CGC Genetics - Porto, Portugal
Delta-beta thalassemia (HBB deletion/duplication analysis of HBB gene)
method(s): ◦ Del/Dup (CNV) ◦ Genotyping (Microarray, Beads, etc.) 
CGC Genetics - Porto, Portugal
Sickle Cell Anemia (sequence analysis of HBB gene)
method(s): ◦ Sequencing, Capillary (Sanger) 
CGC Genetics - Porto, Portugal
TAT: 2-3 weeks
price: contact lab
Horizon Panethnic Carrier Screen
method(s): ◦ Genotyping (Microarray, Beads, etc.) 
Natera - San Carlos, CA, USA
TAT: 2 Weeks
price: contact lab
HBB
method(s): ◦ Sequencing, Next Gen 
Fulgent Diagnostics - Temple City, CA, USA
TAT: 2-3 days
price: $330.00
Baby Genes Newborn Screening Panel
method(s): ◦ Sequencing, Next Gen 
Baby Genes - Golden, CO, USA
TAT: 1-3 weeks
price: contact lab
Beta-Thalassemia
method(s): ◦ Mutation Scanning of Entire Coding Region ◦ Mutation Scanning of Select Exons ◦ Sequencing, Capillary (Sanger) 
L.E.S. Mikrogen Genetic Diagnosis Center - Ankara, Turkey
Sickle Cell Disease
method(s): ◦ Sequencing, Capillary (Sanger) 
L.E.S. Mikrogen Genetic Diagnosis Center - Ankara, Turkey
Sickle Cell Anemia
method(s): ◦ Genotyping (Microarray, Beads, etc.) 
Nucleo de Genetica Medica de Minas Gerais, GENE - Belo Horizonte, Brazil
Beta Thalassemia: HBB
method(s): ◦ Sequencing, Capillary (Sanger) 
LabCorp, Molecular Genetics and Genomics - Research Triangle Park, NC, USA
TAT: 1 week
price: contact lab
Erythroid Chimerism
method(s): ◦ Gene Expression Analysis 
Diagnostic Labs at BloodCenter of Wisconsin - Milwaukee, WI, USA
TAT: 7-8 weeks
price: contact lab
Severe Recessive Childhood Diseases
method(s): ◦ Sequencing, Next Gen 
MGZ München, Medizinisch Genetisches Zentrum München - München, Germany
TAT: 1-2 weeks
price: contact lab
Hemoglobin S Beta-Thalassemia Test
method(s): ◦ Sequencing, Capillary (Sanger) 
MGZ München, Medizinisch Genetisches Zentrum München - München, Germany

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