RBM8A

OMIMHGNC

Synonym(s): ZNRP, BOV-1A, BOV-1B, BOV-1C, RBM8B, Y14, RBM8

Locus: 1q21.1

Protein: RBM8A protein

 

Disorders

Tests

Test Type
Molecular (43)
Multi-Gene Panel (21)
Multi-Method Panel (14)
Test Method
Del/Dup (CNV) (22)
Sequencing, Capillary (Sanger) (11)
Genotyping (Microarray, Beads, etc.) (1)
Sequencing, Next Gen (23)
Prenatal/Carrier
Prenatal (25)
Carrier (30)
Lab Location
USA(26)
United Kingdom(5)
Portugal(1)
Spain(2)
Canada(2)
Poland(1)
Germany(3)
Finland(3)
 
TAT: 6-7 weeks
price: contact lab
Bone Marrow Failure Syndromes Panel
method(s): ◦ Sequencing, Next Gen 
Cincinnati Children's Hospital Medical Center, Molecular Genetics Laboratory - Cincinnati, OH, USA
TAT: 2-3 weeks
price: $1,255.00
Thrombocytopenia and absent radius syndrome (TAR)
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Capillary (Sanger) 
Connective Tissue Gene Tests - Allentown, PA, USA
TAT: 2-3 weeks
price: $680.00
Thrombocytopenia and absent radius syndrome (TAR)
method(s): ◦ Del/Dup (CNV) 
Connective Tissue Gene Tests - Allentown, PA, USA
TAT: 4-5 weeks
price: contact lab
TAR Syndrome: RBM8A Gene Sequencing
method(s):
Emory University School of Medicine, Emory Molecular Genetics Laboratory - Atlanta, GA, USA
TAT: 4-5 weeks
price: contact lab
TAR Syndrome: Sequencing and 1q21.1 Deletion/Duplication Panel
method(s):
Emory University School of Medicine, Emory Molecular Genetics Laboratory - Atlanta, GA, USA
TAT: 4-5 weeks
price: contact lab
Thrombocytopenia Absent Radius Syndrome
method(s): ◦ Del/Dup (CNV) 
Bristol Genetics Laboratory - Bristol, United Kingdom
TAT: 8-9 weeks
price: contact lab
Thrombocytopenia Absent Radius Syndrome
method(s): ◦ Sequencing, Capillary (Sanger) 
Bristol Genetics Laboratory - Bristol, United Kingdom
TAT: 2 weeks
price: contact lab
Thrombocytopenia Absent Radius Syndrome
method(s): ◦ Genotyping (Microarray, Beads, etc.) 
Bristol Genetics Laboratory - Bristol, United Kingdom
TAT: 16-20 weeks
price: contact lab
Chromosome Breakage Disorders NGS Panel
method(s): ◦ Sequencing, Next Gen 
Bristol Genetics Laboratory - Bristol, United Kingdom
TAT: 16-20 weeks
price: contact lab
Inherited Bone Marrow Failure Syndromes NGS Panel
method(s): ◦ Sequencing, Next Gen 
Bristol Genetics Laboratory - Bristol, United Kingdom
Thrombocytopenia (TAR) Syndrome Test - MLPA analysis
method(s): ◦ Del/Dup (CNV) 
GENESIS Center for Medical Genetics, Laboratory of Molecular Genetics - Poznan, Poland
TAT: 1-2 weeks
price: $675.00
Thrombocytopenia and absent radius syndrome (TAR)
method(s): ◦ Sequencing, Capillary (Sanger) 
Connective Tissue Gene Tests - Allentown, PA, USA
TAT: 4 weeks
price: contact lab
Bone Marrow Failure Syndromes Deletion/Duplication Panel
method(s): ◦ Del/Dup (CNV) 
Cincinnati Children's Hospital Medical Center, Molecular Genetics Laboratory - Cincinnati, OH, USA
Thrombocytopenia-absent radius syndrome (TAR, sequence analysis of RBM8A gene)
method(s): ◦ Sequencing, Capillary (Sanger) 
CGC Genetics - Porto, Portugal
TAR Syndrome, Sequencing RBM8A Gene
method(s): ◦ Sequencing, Capillary (Sanger) 
Reference Laboratory Genetics - Hospitalet de Llobregat, Spain
TAT: 4-6 weeks
price: contact lab
Inherited Bone Marrow Failure Sequencing Panel
method(s): ◦ Sequencing, Next Gen 
University of Chicago, Genetic Services Laboratory - Chicago, IL, USA
TAT: 4-6 weeks
price: contact lab
RBM8A Gene Sequencing
method(s): ◦ Del/Dup (CNV) 
Cincinnati Children's Hospital Medical Center, Molecular Genetics Laboratory - Cincinnati, OH, USA
TAT: 4 weeks
price: contact lab
RBM8A Deletion/duplication analysis
method(s): ◦ Del/Dup (CNV) 
Cincinnati Children's Hospital Medical Center, Molecular Genetics Laboratory - Cincinnati, OH, USA
TAT: 7-10 days
price: contact lab
NewbornDx
method(s): ◦ Sequencing, Next Gen 
Parabase Genomics - Boston, MA, USA
TAT: 3 weeks
price: contact lab
aCGH Deletion/Duplication Analysis
method(s): ◦ Del/Dup (CNV) 
Diagnostic Labs at BloodCenter of Wisconsin - Milwaukee, WI, USA
TAR Syndrome: RBM8A Gene Sequencing
method(s): ◦ Sequencing, Capillary (Sanger) ◦ Sequencing, Next Gen 
CEN4GEN Institute for Genomics and Molecular Diagnostics - Edmonton, Canada
TAR Syndrome: Sequencing and 1q21.1 Deletion/Duplication Panel
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Capillary (Sanger) ◦ Sequencing, Next Gen 
CEN4GEN Institute for Genomics and Molecular Diagnostics - Edmonton, Canada
TAT: 4-6 weeks
price: contact lab
Thrombocytopenia Panel
method(s): ◦ Sequencing, Next Gen 
CeGaT GmbH - Tübingen, Germany
TAT: 4-5 Weeks
price: contact lab
RBM8A
method(s): ◦ Sequencing, Next Gen ◦ Sequencing, Capillary (Sanger) ◦ Del/Dup (CNV) 
Fulgent Diagnostics - Temple City, CA, USA
Bone Marrow Failure Related Disorders, Panel Massive Sequencing (NGS) 61 Genes
method(s): ◦ Sequencing, Next Gen 
Reference Laboratory Genetics - Hospitalet de Llobregat, Spain
TAT: 4-6 weeks
price: contact lab
Thrombocytopenia Sequencing Panel
method(s): ◦ Sequencing, Next Gen 
University of Chicago, Genetic Services Laboratory - Chicago, IL, USA
TAT: 3-5 weeks
price: $1,990.00
Thrombocytopenia Sequencing Panel - Expanded
method(s): ◦ Sequencing, Next Gen 
PreventionGenetics (Prevention Genetics), Clinical DNA Testing and DNA Banking - Marshfield, WI, USA
TAT: 3-4 weeks
price: $1,290.00
Thrombocytopenia Deletion/Duplication Panel - Expanded
method(s): ◦ Del/Dup (CNV) 
PreventionGenetics (Prevention Genetics), Clinical DNA Testing and DNA Banking - Marshfield, WI, USA
TAT: ~2 weeks
price: contact lab
Thromocytopenia-Absent-Radius-Syndrome
method(s): ◦ Sequencing, Capillary (Sanger) ◦ Del/Dup (CNV) 
Centogene AG, Rare Disease Company - Rostock, Germany
TAT: 3 weeks
price: contact lab
Inherited Thrombocytopenia Panel
method(s): ◦ Sequencing, Next Gen 
Diagnostic Labs at BloodCenter of Wisconsin - Milwaukee, WI, USA
TAT: 3 weeks
price: contact lab
Comprehensive Platelet Disorder Panel
method(s): ◦ Sequencing, Next Gen 
Diagnostic Labs at BloodCenter of Wisconsin - Milwaukee, WI, USA
TAT: 2-3 weeks
price: $540.00
Thrombocytopenia Absent Radius Syndrome via the RBM8A Gene
method(s): ◦ Sequencing, Capillary (Sanger) 
PreventionGenetics (Prevention Genetics), Clinical DNA Testing and DNA Banking - Marshfield, WI, USA
TAT: 2-3 weeks
price: contact lab
CentoICU Platinum
method(s): ◦ Sequencing, Next Gen 
Centogene AG, Rare Disease Company - Rostock, Germany
TAT: 3 weeks
price: $750.00
Thrombocytopenia Absent Radius (TAR) Syndrome via the RBM8A 1q21.1 Deletion
method(s): ◦ Del/Dup (CNV) 
PreventionGenetics (Prevention Genetics), Clinical DNA Testing and DNA Banking - Marshfield, WI, USA
TAT: 3-4 weeks
price: $1,190.00
Thrombocytopenia Absent Radius (TAR) Syndrome via the RBM8A Gene - Sequencing and 1q21.1 Deletion
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Capillary (Sanger) 
PreventionGenetics (Prevention Genetics), Clinical DNA Testing and DNA Banking - Marshfield, WI, USA
TAT: 5-6 weeks
price: contact lab
Comprehensive Inherited Bone Marrow Failure Panel
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen 
University of Chicago, Genetic Services Laboratory - Chicago, IL, USA
TAT: 1-3 weeks
price: $1,500.00
Invitae Thrombocytopenia-Absent Radius Syndrome Test
method(s): ◦ Sequencing, Next Gen ◦ Del/Dup (CNV) 
Invitae - San Francisco, CA, USA
TAT: 3-4 weeks
price: contact lab
Bleeding Disorder/Coagulopathy 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
Thrombocytopenia Panel
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen 
Blueprint Genetics, Helsinki - Helsinki, Finland
TAT: 3-4 weeks
price: contact lab
Bleeding Disorder/Coagulopathy 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
Thrombocytopenia Panel
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen 
Blueprint Genetics, San Francisco - San Francisco, CA, USA