SPTB

OMIMHGNC

Locus: 14q23.3

Protein: Beta-spectrin

 

Disorders

Tests

Test Type
Molecular (43)
Multi-Gene Panel (26)
Multi-Method Panel (15)
Test Method
Del/Dup (CNV) (15)
Mutation Scanning of Entire Coding Region (1)
Sequencing, Capillary (Sanger) (15)
Sequencing, Next Gen (29)
Prenatal/Carrier
Prenatal (15)
Carrier (20)
Lab Location
USA(23)
Germany(10)
Spain(5)
Portugal(1)
Finland(3)
Austria(1)
 
Elliptocytosis 3 Test
method(s): ◦ Sequencing, Capillary (Sanger) ◦ Sequencing, Next Gen 
Yale University School of Medicine - Department of Pathology, Section of Molecular Diagnostics, Blood Cell Disease Reference Laboratory - New Haven, CT, USA
Hereditary Pyropoikilocytosis Test
method(s): ◦ Sequencing, Capillary (Sanger) ◦ Sequencing, Next Gen 
Yale University School of Medicine - Department of Pathology, Section of Molecular Diagnostics, Blood Cell Disease Reference Laboratory - New Haven, CT, USA
Spherocytosis, Type 2 Test
method(s): ◦ Sequencing, Capillary (Sanger) ◦ Sequencing, Next Gen 
Yale University School of Medicine - Department of Pathology, Section of Molecular Diagnostics, Blood Cell Disease Reference Laboratory - New Haven, CT, USA
TAT: 6-7 weeks
price: contact lab
Hemolytic Anemia Panel
method(s): ◦ Sequencing, Next Gen 
Cincinnati Children's Hospital Medical Center, Molecular Genetics Laboratory - Cincinnati, OH, USA
TAT: 6-7 weeks
price: contact lab
Red Blood Cell Membrane Disorders Panel
method(s): ◦ Sequencing, Next Gen 
Cincinnati Children's Hospital Medical Center, Molecular Genetics Laboratory - Cincinnati, OH, USA
TAT: 4-6 weeks
price: contact lab
SPTB Gene Sequencing
method(s): ◦ Sequencing, Capillary (Sanger) 
Cincinnati Children's Hospital Medical Center, Molecular Genetics Laboratory - Cincinnati, OH, USA
Elliptocytosis 3 (SPTB)
method(s): ◦ Sequencing, Capillary (Sanger) 
MVZ Dortmund Dr. Eberhard and Partner - Dortmund, Germany
Hereditary Pyropoikilocytosis (HPP, SPTA1, SPTB)
method(s): ◦ Sequencing, Capillary (Sanger) 
MVZ Dortmund Dr. Eberhard and Partner - Dortmund, Germany
Spherocytosis, Type 2 (SPTB)
method(s): ◦ Sequencing, Capillary (Sanger) 
MVZ Dortmund Dr. Eberhard and Partner - Dortmund, Germany
TAT: 7-8 weeks
price: contact lab
Sanger sequencing of the SPTB gene
method(s): ◦ Mutation Scanning of Entire Coding Region ◦ Sequencing, Capillary (Sanger) 
Sistemas Genomicos, Medical Genetics Unit - Paterna, Spain
Hereditary spherocytosis Multi-Gene Panels
method(s): ◦ Sequencing, Next Gen 
Center for Human Genetics and Laboratory Medicine Martinsried, Molecular Genetics - Martinsried, Germany
TAT: 3-4 weeks
price: contact lab
SPTB Gene Sequencing
method(s): ◦ Sequencing, Next Gen ◦ Sequencing, Capillary (Sanger) 
Center for Human Genetics and Laboratory Medicine Martinsried, Molecular Genetics - Martinsried, Germany
Hereditary Spherocytosis Type 2, Sequencing SPTB Gene
method(s): ◦ Sequencing, Capillary (Sanger) 
Reference Laboratory Genetics - Hospitalet de Llobregat, Spain
Hereditary spherocytosis type 2 (sequence analysis of SPTB gene)
method(s): ◦ Sequencing, Capillary (Sanger) 
CGC Genetics - Porto, Portugal
Hereditary Spherocytosis, Panel Massive Sequencing (NGS) 5 Genes
method(s): ◦ Sequencing, Next Gen 
Reference Laboratory Genetics - Hospitalet de Llobregat, Spain
Spherocytosis
method(s): ◦ Sequencing, Next Gen 
GENETAQ, Molecular Genetics Centre - Malaga, Spain
TAT: 4 weeks
price: contact lab
Hemolytic Anemia Deletion/Duplication Analysis
method(s): ◦ Del/Dup (CNV) 
Cincinnati Children's Hospital Medical Center, Molecular Genetics Laboratory - Cincinnati, OH, USA
Hereditary Hemolytic Anemia Sequencing, 28 Genes
method(s): ◦ Sequencing, Next Gen 
ARUP Laboratories, Molecular Genetics Laboratory - Salt Lake City, UT, USA
TAT: 7-10 days
price: contact lab
NewbornDx
method(s): ◦ Sequencing, Next Gen 
Parabase Genomics - Boston, MA, USA
TAT: 4-6 weeks
price: contact lab
Hereditary Spherocytosis NGS Panel
method(s): ◦ Sequencing, Next Gen 
DDC Clinic Molecular Diagnostics Laboratory - Middlefield, OH, USA
TAT: 4-6 weeks
price: contact lab
Hereditary Spherocytosis Autosomal Dominant NGS Panel
method(s): ◦ Sequencing, Next Gen 
DDC Clinic Molecular Diagnostics Laboratory - Middlefield, OH, USA
TAT: 4-6 weeks
price: contact lab
SPTB Gene Sequencing
method(s): ◦ Sequencing, Next Gen 
DDC Clinic Molecular Diagnostics Laboratory - Middlefield, OH, USA
TAT: 4-6 weeks
price: contact lab
Erythrocytes, Anemia Panel
method(s): ◦ Sequencing, Next Gen 
CeGaT GmbH - Tübingen, Germany
TAT: 4 weeks
price: contact lab
SPTB Deletion/duplication analysis
method(s): ◦ Del/Dup (CNV) 
Cincinnati Children's Hospital Medical Center, Molecular Genetics Laboratory - Cincinnati, OH, USA
TAT: 4 weeks
price: contact lab
Red Blood Cell Membrane Disorders Deletion/duplication panel
method(s): ◦ Del/Dup (CNV) 
Cincinnati Children's Hospital Medical Center, Molecular Genetics Laboratory - Cincinnati, OH, USA
TAT: 4-6 Weeks
price: contact lab
Hereditary Spherocytosis NGS Panel
method(s): ◦ Sequencing, Next Gen ◦ Sequencing, Capillary (Sanger) ◦ Del/Dup (CNV) 
Fulgent Diagnostics - Temple City, CA, USA
TAT: 4-5 Weeks
price: contact lab
SPTB
method(s): ◦ Sequencing, Next Gen ◦ Sequencing, Capillary (Sanger) ◦ Del/Dup (CNV) 
Fulgent Diagnostics - Temple City, CA, USA
Hereditary Elliptocytosis, Panel Massive Sequencing (NGS) 4 Genes
method(s): ◦ Sequencing, Next Gen 
Reference Laboratory Genetics - Hospitalet de Llobregat, Spain
TAT: 3-4 weeks
price: $690.00
Hereditary Spherocytosis/Elliptocytosis via the SPTB Gene
method(s): ◦ Del/Dup (CNV) 
PreventionGenetics (Prevention Genetics), Clinical DNA Testing and DNA Banking - Marshfield, WI, USA
TAT: 3-4 weeks
price: $840.00
Spherocytosis/Elliptocytosis Deletion/Duplication Panel
method(s): ◦ Del/Dup (CNV) 
PreventionGenetics (Prevention Genetics), Clinical DNA Testing and DNA Banking - Marshfield, WI, USA
TAT: 3-5 weeks
price: $990.00
Hereditary Spherocytosis/Elliptocytosis via the SPTB Gene
method(s): ◦ Sequencing, Next Gen 
PreventionGenetics (Prevention Genetics), Clinical DNA Testing and DNA Banking - Marshfield, WI, USA
TAT: 3-5 weeks
price: $1,490.00
Spherocytosis/Elliptocytosis Sequencing Panel
method(s): ◦ Sequencing, Next Gen 
PreventionGenetics (Prevention Genetics), Clinical DNA Testing and DNA Banking - Marshfield, WI, USA
Spherocytosis (Sphärozytose)
method(s): ◦ Sequencing, Next Gen 
Praxis fuer Humangenetik Wien - Vienna, Austria
TAT: 3-4 weeks
price: contact lab
Anemia, neonatal hemolytic, fatal and near-fatal
method(s): ◦ Sequencing, Capillary (Sanger) ◦ Del/Dup (CNV) 
Centogene AG, Rare Disease Company - Rostock, Germany
TAT: 3-4 weeks
price: contact lab
Spherocytosis type 2
method(s): ◦ Sequencing, Capillary (Sanger) ◦ Del/Dup (CNV) 
Centogene AG, Rare Disease Company - Rostock, Germany
TAT: 2-3 weeks
price: contact lab
CentoICU Platinum
method(s): ◦ Sequencing, Next Gen 
Centogene AG, Rare Disease Company - Rostock, Germany
TAT: 4-5 weeks
price: contact lab
Spherocytosis panel
method(s): ◦ Sequencing, Next Gen 
Centogene AG, Rare Disease Company - Rostock, Germany
TAT: 3-4 weeks
price: contact lab
Anemia Panel
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen 
Blueprint Genetics, Helsinki - Helsinki, Finland
TAT: 3-4 weeks
price: contact lab
Comprehensive Hematology Panel
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen 
Blueprint Genetics, Helsinki - Helsinki, Finland
TAT: 3-4 weeks
price: contact lab
Red Blood Cell Membrane Disorder Panel
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen 
Blueprint Genetics, Helsinki - Helsinki, Finland
TAT: 3-4 weeks
price: contact lab
Anemia Panel
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen 
Blueprint Genetics, San Francisco - San Francisco, CA, USA
TAT: 3-4 weeks
price: contact lab
Comprehensive Hematology Panel
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen 
Blueprint Genetics, San Francisco - San Francisco, CA, USA
TAT: 3-4 weeks
price: contact lab
Red Blood Cell Membrane Disorder Panel
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen 
Blueprint Genetics, San Francisco - San Francisco, CA, USA