SIGMAR1
Synonym(s): SR-BP1, OPRS1
Locus: 9p13.3
Disorders
Tests
| Neurodegenerative Diseases Panel method(s): ◦ Sequencing, Next Gen Genomic Laboratory of the DNA Research Center LTD (Centrum Badań DNA sp z o.o.) - Poznań, Poland |
| Hereditary Dementias Multi-Gene NGS Panel method(s): ◦ Linkage Analysis ◦ Sequencing, Next Gen InterGenetics - Diagnostic Genetic Center - Athens, Greece |
| Frontotemporal Dementia (FTD) Panel method(s): ◦ Repeat Expansion / Contraction ◦ Sequencing, Next Gen CeGaT GmbH - Tübingen, Germany |
| Dementia all Panel method(s): ◦ Del/Dup (CNV) ◦ Repeat Expansion / Contraction ◦ Sequencing, Next Gen CeGaT GmbH - Tübingen, Germany |
| Amyotrophic Lateral Sclerosis (ALS) Panel method(s): ◦ Repeat Expansion / Contraction ◦ Sequencing, Next Gen CeGaT GmbH - Tübingen, Germany |
| Hereditary Spastic Paraplegias (HSP) and Differential Diagnoses Panel method(s): ◦ Sequencing, Next Gen CeGaT GmbH - Tübingen, Germany |
| Amyotrophic lateral sclerosis 16 (sequence analysis of SIGMAR1 gene) method(s): ◦ Sequencing, Capillary (Sanger) CGC Genetics - Porto, Portugal |
| Frontotemporal Dementia, Panel Massive Sequencing (NGS) 8 Genes method(s): ◦ Sequencing, Next Gen Reference Laboratory Genetics - Hospitalet de Llobregat, Spain |
| Amyotrophic Lateral Sclerosis (NextGen Sequencing Panel and Copy Number Analysis; 27 Genes) method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen MNG Laboratories (Medical Neurogenetics, LLC.) - Atlanta, GA, USA |
| Amyotrophic Lateral Sclerosis (NextGen Sequencing Panel, Copy Number Analysis, and C9orf72 Repeat Expansion Analysis; 27 Genes) method(s): ◦ Del/Dup (CNV) ◦ Repeat Expansion / Contraction ◦ Sequencing, Next Gen MNG Laboratories (Medical Neurogenetics, LLC.) - Atlanta, GA, USA |
| Comprehensive Muscular Dystrophy/Myopathy (NextGen Sequencing Panel and Copy Number Analysis; 407 Genes + mtDNA) method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen MNG Laboratories (Medical Neurogenetics, LLC.) - Atlanta, GA, USA |
| Amyotrophic Lateral Sclerosis NGS Panel method(s): ◦ Sequencing, Next Gen ◦ Sequencing, Capillary (Sanger) ◦ Del/Dup (CNV) Fulgent Diagnostics - Temple City, CA, USA |
| SIGMAR1 method(s): ◦ Sequencing, Next Gen ◦ Sequencing, Capillary (Sanger) ◦ Del/Dup (CNV) Fulgent Diagnostics - Temple City, CA, USA |
| Motor Neuron Disorder and Related Diseases, Panel Massive Sequencing (NGS) 49 Genes method(s): ◦ Sequencing, Next Gen Reference Laboratory Genetics - Hospitalet de Llobregat, Spain |
TAT: 3-5 weeks Distal Hereditary Motor Neuropathy Sequencing Panelprice: $1,740.00 method(s): ◦ Sequencing, Next Gen PreventionGenetics (Prevention Genetics), Clinical DNA Testing and DNA Banking - Marshfield, WI, USA |
| Amyotrophic lateral sclerosis (Amyotrophe Lateralsklerose) method(s): ◦ Sequencing, Next Gen Praxis fuer Humangenetik Wien - Vienna, Austria |
| Dementia NGS panel method(s): ◦ Sequencing, Next Gen IBMC-Institute for Cell and Molecular Biology, CGPP - Center for Predictive and Preventive Genetics - Porto, Portugal |
| Amyotrophic lateral sclerosis type 16 method(s): ◦ Sequencing, Capillary (Sanger) ◦ Del/Dup (CNV) Centogene AG, Rare Disease Company - Rostock, Germany |
| Amyotrophic lateral sclerosis (ALS) panel method(s): ◦ Del/Dup (CNV) ◦ Mutation Scanning of Entire Coding Region ◦ Repeat Expansion / Contraction ◦ Sequencing, Next Gen Centogene AG, Rare Disease Company - Rostock, Germany |
| NGS panel - dementia/ALS method(s): ◦ Del/Dup (CNV) ◦ Repeat Expansion / Contraction ◦ Sequencing, Next Gen VU University Medical Center, Genome Diagnostics Amsterdam - Amsterdam, Netherlands |
TAT: 3-4 weeks Distal hereditary motor neuropathy and related disorders NGS panelprice: $1,490.00 method(s): ◦ Sequencing, Next Gen Connective Tissue Gene Tests - Allentown, PA, USA |
TAT: 2-3 weeks Distal hereditary motor neuropathy and related disorders NGS panelprice: $1,300.00 method(s): ◦ Del/Dup (CNV) Connective Tissue Gene Tests - Allentown, PA, USA |
TAT: 3-4 weeks Distal hereditary motor neuropathy and related disorders NGS panelprice: $2,640.00 method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen Connective Tissue Gene Tests - Allentown, PA, USA |
| Frontotemporal dementia panel method(s): ◦ Del/Dup (CNV) ◦ Repeat Expansion / Contraction ◦ Sequencing, Next Gen Centogene AG, Rare Disease Company - Rostock, Germany |
TAT: 1-3 weeks Invitae Hereditary Motor Neuropathy Panelprice: $1,500.00 method(s): ◦ Sequencing, Next Gen ◦ Del/Dup (CNV) Invitae - San Francisco, CA, USA |
TAT: 1-3 weeks Invitae Amyotrophic Lateral Sclerosis Panelprice: $1,500.00 method(s): ◦ Sequencing, Next Gen ◦ Del/Dup (CNV) Invitae - San Francisco, CA, USA |
TAT: 1-3 weeks Invitae Comprehensive Neuropathies Panelprice: $1,500.00 method(s): ◦ Sequencing, Next Gen ◦ Del/Dup (CNV) Invitae - San Francisco, CA, USA |
TAT: 1-3 weeks Invitae Combined Hereditary Dementia and Amyotrophic Lateral Sclerosis Panelprice: $1,500.00 method(s): ◦ Sequencing, Next Gen ◦ Del/Dup (CNV) Invitae - San Francisco, CA, USA |
TAT: 3-4 weeks Amyotrophic lateral sclerosis and related disorders NGS panelprice: $1,470.00 method(s): ◦ Sequencing, Next Gen Connective Tissue Gene Tests - Allentown, PA, USA |
TAT: 3-4 weeks Amyotrophic lateral sclerosis and related disorders NGS panelprice: $2,620.00 method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen Connective Tissue Gene Tests - Allentown, PA, USA |
TAT: 2-3 weeks Amyotrophic lateral sclerosis and related disorders NGS panelprice: $1,300.00 method(s): ◦ Del/Dup (CNV) Connective Tissue Gene Tests - Allentown, PA, USA |
| Dementia Panel method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen Blueprint Genetics, Helsinki - Helsinki, Finland |
| Dementia Panel method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen Blueprint Genetics, San Francisco - San Francisco, CA, USA |