Combined Skeletal Dysplasia and Osteogenesis Imperfecta Panel method(s): ◦ Sequencing, Next Gen Insight Medical Genetics, LLC - Chicago, IL, USA |
TAT: 2-3 weeks price: $1,570.00
Short-rib thoracic dysplasia 3 with or without polydactyly (SRTD3) method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen Connective Tissue Gene Tests - Allentown, PA, USA |
TAT: 2-3 weeks price: $680.00
Short-rib thoracic dysplasia 3 with or without polydactyly (SRTD3) method(s): ◦ Del/Dup (CNV) Connective Tissue Gene Tests - Allentown, PA, USA |
TAT: 2-3 weeks price: $1,150.00
Skeletal dysplasia ciliopathy NGS panel method(s): ◦ Del/Dup (CNV) Connective Tissue Gene Tests - Allentown, PA, USA |
Ciliopathies: Sequencing and Deletion/Duplication Panel method(s): Emory University School of Medicine, Emory Molecular Genetics Laboratory - Atlanta, GA, USA |
Skeletal Dysplasia: Sequencing Panel method(s): Emory University School of Medicine, Emory Molecular Genetics Laboratory - Atlanta, GA, USA |
Disproportionate Short Stature: Sequencing Panel method(s): Emory University School of Medicine, Emory Molecular Genetics Laboratory - Atlanta, GA, USA |
NGS and Sanger sequencing of DYNC2H1 gene method(s): ◦ Sequencing, Next Gen ◦ Sequencing, Capillary (Sanger) ◦ Mutation Scanning of Entire Coding Region Sistemas Genomicos, Medical Genetics Unit - Paterna, Spain |
NGS of 7 genes: DYNC2H1, EVC, EVC2, GLI2, IFT80, NEX1, WDR35. method(s): ◦ Mutation Scanning of Entire Coding Region ◦ Sequencing, Next Gen Sistemas Genomicos, Medical Genetics Unit - Paterna, Spain |
NGS of 4 genes: DYNC2H1, IFT80, TTC21B, WDR19. method(s): ◦ Mutation Scanning of Entire Coding Region ◦ Sequencing, Next Gen Sistemas Genomicos, Medical Genetics Unit - Paterna, Spain |
TAT: 2-4 weeks price: $1,900.00
Skeletal dysplasia ciliopathy NGS panel method(s): ◦ Sequencing, Next Gen Connective Tissue Gene Tests - Allentown, PA, USA |
TAT: 2-3 weeks price: $990.00
Short-rib thoracic dysplasia 3 with or without polydactyly (SRTD3) method(s): ◦ Sequencing, Next Gen Connective Tissue Gene Tests - Allentown, PA, USA |
Asphyxiating Thoracic Dystrophy Type 3, Sequencing DYNC2H1 Gene method(s): ◦ Sequencing, Capillary (Sanger) Reference Laboratory Genetics - Hospitalet de Llobregat, 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 |
Asphyxiating thoracic dystrophy 3 (sequence analysis of DYNC2H1 gene) method(s): ◦ Sequencing, Next Gen CGC Genetics - Porto, Portugal |
Skeletal Dysplasia Panel, Sequencing (39 Genes) and Deletion/Duplication (36 Genes) method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen ARUP Laboratories, Molecular Genetics Laboratory - Salt Lake City, UT, USA |
Skeletal Dysplasia Panel, Sequencing (39 Genes) and Deletion/Duplication (36 Genes), Fetal method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen ARUP Laboratories, Molecular Genetics Laboratory - Salt Lake City, UT, USA |
Asphyxiating Thoracic Dystrophy, Panel Massive Sequencing (NGS) DYNC2H1,IFT80,TTC21B,WDR19 Genes method(s): ◦ Sequencing, Next Gen Reference Laboratory Genetics - Hospitalet de Llobregat, Spain |
Ellis Van Creveld syndrome (NGS panel for 14 genes) method(s): ◦ Sequencing, Next Gen CGC Genetics - Porto, Portugal |
Disproportionate Short Stature: Sequencing Panel method(s): ◦ Sequencing, Capillary (Sanger) ◦ Sequencing, Next Gen CEN4GEN Institute for Genomics and Molecular Diagnostics - Edmonton, Canada |
Disproportionate Short Stature: Deletion/Duplication Panel method(s): ◦ Del/Dup (CNV) CEN4GEN Institute for Genomics and Molecular Diagnostics - Edmonton, Canada |
Skeletal Dysplasia: Sequencing Panel method(s): ◦ Sequencing, Capillary (Sanger) ◦ Sequencing, Next Gen CEN4GEN Institute for Genomics and Molecular Diagnostics - Edmonton, Canada |
Skeletal Dysplasia: Deletion/Duplication Panel method(s): ◦ Del/Dup (CNV) CEN4GEN Institute for Genomics and Molecular Diagnostics - Edmonton, Canada |
Ciliopathies: Sequencing Panel method(s): ◦ Sequencing, Capillary (Sanger) ◦ Sequencing, Next Gen CEN4GEN Institute for Genomics and Molecular Diagnostics - Edmonton, Canada |
Ciliopathies: Deletion/Duplication Panel method(s): ◦ Del/Dup (CNV) CEN4GEN Institute for Genomics and Molecular Diagnostics - Edmonton, Canada |
Short-rib dysplasia Panel method(s): ◦ Sequencing, Next Gen CeGaT GmbH - Tübingen, Germany |
Potentially lethal skeletal disorders Panel method(s): ◦ Sequencing, Next Gen CeGaT GmbH - Tübingen, Germany |
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 |
Abnormal/Ambiguous Genitalia Sequencing Test method(s): ◦ Sequencing, Next Gen University of Chicago, Genetic Services Laboratory - Chicago, IL, USA |
46,XY Disorders of Sex Development/Complete Gonadal Dysgenesis Sequencing Panel method(s): ◦ Sequencing, Next Gen University of Chicago, Genetic Services Laboratory - Chicago, IL, USA |
Ellis-Van Creveld Syndrome, Panel Massive Sequencing (NGS) 6 Genes method(s): ◦ Sequencing, Next Gen Reference Laboratory Genetics - Hospitalet de Llobregat, Spain |
Ciliopathies NGS Panel method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Capillary (Sanger) ◦ Sequencing, Next Gen Fulgent Diagnostics - Temple City, CA, USA |
DYNC2H1 method(s): ◦ Sequencing, Next Gen ◦ Sequencing, Capillary (Sanger) ◦ Del/Dup (CNV) Fulgent Diagnostics - Temple City, CA, USA |
Skeletal Dysplasias NGS Panel method(s): ◦ Sequencing, Next Gen ◦ Sequencing, Capillary (Sanger) ◦ Del/Dup (CNV) Fulgent Diagnostics - Temple City, CA, USA |
Asphyxiating thoracic dystrophy (sequence analysis of DYNC2H1 and IFT80 genes) method(s): ◦ Sequencing, Next Gen CGC Genetics - Porto, Portugal |
TAT: 2-4 weeks price: $2,900.00
Skeletal dysplasia ciliopathy NGS panel Comprehensive Test method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen Connective Tissue Gene Tests - Allentown, PA, USA |
TAT: 3-5 weeks price: $990.00
Short-Rib-Polydactyly Syndrome via the DYNC2H1 Gene method(s): ◦ Sequencing, Next Gen PreventionGenetics (Prevention Genetics), Clinical DNA Testing and DNA Banking - Marshfield, WI, USA |
TAT: 3-5 weeks price: $1,740.00
Short Rib Skeletal Dysplasia Sequencing Panel method(s): ◦ Sequencing, Next Gen PreventionGenetics (Prevention Genetics), Clinical DNA Testing and DNA Banking - Marshfield, WI, USA |
Skeletal dysplasia ciliopathy NGS panel method(s): ◦ Sequencing, Next Gen IBMC-Institute for Cell and Molecular Biology, CGPP - Center for Predictive and Preventive Genetics - Porto, Portugal |
Short-rib thoracic dysplasia type 3 with or without polydactyly method(s): ◦ Sequencing, Capillary (Sanger) Centogene AG, Rare Disease Company - Rostock, Germany |
Jeune Syndrome method(s): ◦ Sequencing, Next Gen Asper Biotech Ltd., Asper Biotech - Tartu, Estonia |
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 Skeletal Ciliopathies Panel method(s): ◦ Sequencing, Next Gen ◦ Del/Dup (CNV) Invitae - San Francisco, CA, USA |
Ciliopathy Focus Panel method(s): ◦ Sequencing, Next Gen Courtagen Life Sciences, Courtagen Diagnostics Laboratory - Woburn, MA, USA |
Skeletal dysplasia ciliopathy panel method(s): ◦ Sequencing, Next Gen Centogene AG, Rare Disease Company - Rostock, Germany |
Abnormal Genitalia/ Disorders of Sex Development Panel method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen Blueprint Genetics, Helsinki - Helsinki, Finland |
Comprehensive Skeletal / Malformation Syndrome Panel method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen Blueprint Genetics, Helsinki - Helsinki, Finland |
Short Rib Dysplasia / Asphyxiating Thoracic Dysplasia Panel method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen Blueprint Genetics, Helsinki - Helsinki, Finland |
Comprehensive Skeletal Dysplasias and Disorders Panel method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen Blueprint Genetics, Helsinki - Helsinki, Finland |
Skeletal Dysplasias Core Panel method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen Blueprint Genetics, Helsinki - Helsinki, Finland |
Abnormal Genitalia/ Disorders of Sex Development Panel method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen Blueprint Genetics, San Francisco - San Francisco, CA, USA |
Comprehensive Skeletal / Malformation Syndrome Panel method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen Blueprint Genetics, San Francisco - San Francisco, CA, USA |
Short Rib Dysplasia / Asphyxiating Thoracic Dysplasia Panel method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen Blueprint Genetics, San Francisco - San Francisco, CA, USA |
Comprehensive Skeletal Dysplasias and Disorders Panel method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen Blueprint Genetics, San Francisco - San Francisco, CA, USA |
Skeletal Dysplasias Core Panel method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen Blueprint Genetics, San Francisco - San Francisco, CA, USA |