B9D2

OMIMHGNC

Synonym(s): MGC4093, MKS10

Locus: 19q13.2

Protein: B9 domain-containing protein 2

 

Disorders

Tests

Test Type
Molecular (43)
Multi-Gene Panel (37)
Multi-Method Panel (21)
Test Method
Del/Dup (CNV) (22)
Sequencing, Capillary (Sanger) (8)
Sequencing, Next Gen (37)
Prenatal/Carrier
Prenatal (21)
Carrier (25)
Lab Location
Germany(8)
Portugal(4)
USA(23)
Spain(1)
Poland(1)
Canada(1)
Austria(1)
Finland(4)
 
TAT: 8-9 weeks
price: contact lab
Ciliopathies: Sequencing and Deletion/Duplication Panel
method(s):
EGL Genetic Diagnostics, Molecular Genetics Laboratory - Tucker, GA, USA
TAT: 8-9 weeks
price: contact lab
Joubert/Meckel Gruber syndrome Sequencing Panel
method(s): ◦ Sequencing, Next Gen 
University of Chicago, Genetic Services Laboratory - Chicago, IL, USA
TAT: 8-9 weeks
price: contact lab
Meckel Gruber syndrome Sequencing panel
method(s): ◦ Sequencing, Next Gen 
University of Chicago, Genetic Services Laboratory - Chicago, IL, USA
TAT: 7-8 weeks
price: contact lab
B9D2 (MKSR2) Gene Sequencing
method(s): ◦ Sequencing, Next Gen ◦ Sequencing, Capillary (Sanger) 
Center for Human Genetics and Laboratory Medicine Martinsried, Molecular Genetics - Martinsried, Germany
TAT: 7-8 weeks
price: contact lab
Joubert Syndrome and Related Disorders Multi-Gene Panels
method(s): ◦ Sequencing, Next Gen 
Center for Human Genetics and Laboratory Medicine Martinsried, Molecular Genetics - Martinsried, Germany
Kidney Diseases Panel
method(s): ◦ Sequencing, Next Gen 
Genomic Laboratory of the DNA Research Center LTD (Centrum Badań DNA sp z o.o.) - Poznań, Poland
Meckel syndrome 10 (sequence analysis of B9D2 gene)
method(s): ◦ Sequencing, Capillary (Sanger) 
CGC Genetics - Porto, Portugal
Meckel Syndrome , Panel Massive Sequencing (NGS) 10 Genes
method(s): ◦ Sequencing, Next Gen 
Reference Laboratory Genetics - Hospitalet de Llobregat, Spain
TAT: 4-6 weeks
price: contact lab
Meckel Syndrome Panel
method(s): ◦ Sequencing, Next Gen 
CeGaT GmbH - Tübingen, Germany
Meckel syndrome (NGS panel for 11 genes)
method(s): ◦ Sequencing, Next Gen 
CGC Genetics - Porto, Portugal
Ciliopathies (NGS panel for 90 genes)
method(s): ◦ Sequencing, Next Gen 
CGC Genetics - Porto, Portugal
TAT: 2-4 weeks
price: contact lab
Single gene testing B9D2
method(s): ◦ Sequencing, Capillary (Sanger) 
CeGaT GmbH - Tübingen, Germany
TAT: 2-4 weeks
price: contact lab
Joubert syndrome and related disorders NGS panel
method(s): ◦ Sequencing, Next Gen 
Connective Tissue Gene Tests - Allentown, PA, USA
TAT: 2-3 weeks
price: contact lab
Joubert syndrome and related disorders NGS panel
method(s): ◦ Del/Dup (CNV) 
Connective Tissue Gene Tests - Allentown, PA, USA
Ciliopathies: Deletion/Duplication Panel
method(s): ◦ Del/Dup (CNV) 
CEN4GEN Institute for Genomics and Molecular Diagnostics - Edmonton, Canada
TAT: 11-12 weeks
price: $2,000.00
KidneySeq - A Comprehensive Inherited Kidney Disease Panel
method(s): ◦ Sequencing, Next Gen 
Iowa Institute of Human Genetcs (IIHG) - Iowa City, IA, USA
TAT: 2-4 weeks
price: contact lab
Congenital Heart Defects (NextGen Sequencing Panel and Copy Number Analysis; 77 genes)
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen 
MNG Laboratories (Medical Neurogenetics, LLC.) - Atlanta, GA, USA
TAT: 2-4 weeks
price: contact lab
Meckel Syndrome (NextGen Sequencing Panel and Copy Number Analysis; 11 Genes)
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen 
MNG Laboratories (Medical Neurogenetics, LLC.) - Atlanta, GA, USA
TAT: 4-5 Weeks
price: contact lab
B9D2
method(s): ◦ Sequencing, Next Gen ◦ Sequencing, Capillary (Sanger) ◦ Del/Dup (CNV) 
Fulgent Diagnostics - Temple City, CA, USA
Ciliopathies NGS Panel
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Capillary (Sanger) ◦ Sequencing, Next Gen 
Fulgent Diagnostics - Temple City, CA, USA
TAT: 4-6 Weeks
price: contact lab
Joubert and Meckel NGS Panel
method(s): ◦ Sequencing, Next Gen ◦ Sequencing, Capillary (Sanger) ◦ Del/Dup (CNV) 
Fulgent Diagnostics - Temple City, CA, USA
TAT: 2-4 weeks
price: contact lab
Joubert syndrome and related disorders NGS panel Comprehensive Test
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen 
Connective Tissue Gene Tests - Allentown, PA, USA
TAT: 7-8 weeks
price: contact lab
Renal Cystic Disorders Sequencing Panel
method(s): ◦ Sequencing, Next Gen 
University of Chicago, Genetic Services Laboratory - Chicago, IL, USA
TAT: 3-5 weeks
price: $2,990.00
Ciliopathy Sequencing Panel
method(s): ◦ Sequencing, Next Gen 
PreventionGenetics (Prevention Genetics), Clinical DNA Testing and DNA Banking - Marshfield, WI, USA
TAT: 3-5 weeks
price: $1,890.00
Joubert and Meckel-Gruber Syndromes Sequencing Panel
method(s): ◦ Sequencing, Next Gen 
PreventionGenetics (Prevention Genetics), Clinical DNA Testing and DNA Banking - Marshfield, WI, USA
Meckel syndrome (Meckel Syndrom)
method(s): ◦ Sequencing, Next Gen 
Praxis fuer Humangenetik Wien - Vienna, Austria
TAT: 3-5 weeks
price: $2,390.00
Comprehensive Inherited Retinal Dystrophies (includes RPGR ORF15) Sequencing Panel
method(s): ◦ Sequencing, Next Gen 
PreventionGenetics (Prevention Genetics), Clinical DNA Testing and DNA Banking - Marshfield, WI, USA
Joubert syndrome NGS panel
method(s): ◦ Sequencing, Next Gen 
IBMC-Institute for Cell and Molecular Biology, CGPP - Center for Predictive and Preventive Genetics - Porto, Portugal
TAT: 2-3 weeks
price: contact lab
Congenital Heart Disease NGS Panel
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Capillary (Sanger) ◦ Sequencing, Next Gen 
Fulgent Diagnostics - Temple City, CA, USA
TAT: ~2 weeks
price: contact lab
Meckel syndrome type 10
method(s): ◦ Sequencing, Capillary (Sanger) ◦ Del/Dup (CNV) 
Centogene AG, Rare Disease Company - Rostock, Germany
TAT: 1-3 weeks
price: $1,500.00
Invitae Ciliopathies Panel
method(s): ◦ Sequencing, Next Gen ◦ Del/Dup (CNV) 
Invitae - San Francisco, CA, USA
TAT: 1-3 weeks
price: $1,500.00
Invitae Joubert and Meckel-Gruber Syndromes Panel
method(s): ◦ Sequencing, Next Gen ◦ Del/Dup (CNV) 
Invitae - San Francisco, CA, USA
TAT: 4-5 weeks
price: contact lab
Joubert syndrome panel
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen 
Centogene AG, Rare Disease Company - Rostock, Germany
TAT: 4-5 weeks
price: contact lab
Meckel syndrome panel
method(s): ◦ Sequencing, Next Gen 
Centogene AG, Rare Disease Company - Rostock, Germany
TAT: 3-4 weeks
price: contact lab
Ciliopathy Panel
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen 
Blueprint Genetics, Helsinki - Helsinki, Finland
TAT: 3-4 weeks
price: contact lab
Joubert Syndrome Panel
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen 
Blueprint Genetics, Helsinki - Helsinki, Finland
TAT: 3-4 weeks
price: contact lab
Meckel Syndrome Panel
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen 
Blueprint Genetics, Helsinki - Helsinki, Finland
TAT: 3-4 weeks
price: contact lab
Retinal Dystrophy Panel
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen 
Blueprint Genetics, Helsinki - Helsinki, Finland
TAT: 3-4 weeks
price: contact lab
Ciliopathy Panel
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen 
Blueprint Genetics, San Francisco - San Francisco, CA, USA
TAT: 3-4 weeks
price: contact lab
Joubert Syndrome Panel
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen 
Blueprint Genetics, San Francisco - San Francisco, CA, USA
TAT: 3-4 weeks
price: contact lab
Meckel Syndrome Panel
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen 
Blueprint Genetics, San Francisco - San Francisco, CA, USA
TAT: 3-4 weeks
price: contact lab
Retinal Dystrophy Panel
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen 
Blueprint Genetics, San Francisco - San Francisco, CA, USA
Hereditary Kidney Disorders - different panels
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen 
Cologne University, Institute of Human Genetics - Cologne, Germany