Congenital Myasthenic Syndromes: Sequencing Panel method(s): Emory University School of Medicine, Emory Molecular Genetics Laboratory - Atlanta, GA, USA |
Expanded Neuromuscular Disorders: Sequencing and Deletion/Duplication Panel method(s): Emory University School of Medicine, Emory Molecular Genetics Laboratory - Atlanta, GA, USA |
NGS of 40 genes: AGRN, BLK, C5, CCL21, CCR6, CD2, CD28, CD40, CD58, CHAT, CHRNA1, CHRNB1, CHRND, CHRNE, CHRNG, COLQ, DOK7, GFPT1, IL2, IL21, IL2RA, IL2RB, IL6ST, IRF5, MUSK, PRDM1, PRKCQ, PTPRC, RAG1, RAPSN, RBPJ, SCN4A, STAT4, TAGAP, TNFAIP3, TNFRSF14, T method(s): ◦ Mutation Scanning of Entire Coding Region ◦ Sequencing, Next Gen Sistemas Genomicos, Medical Genetics Unit - Paterna, Spain |
NGS of 13 genes: AGRN, CHAT, CHRNA1, CHRNB1, CHRND, CHRNE, CHRNG, COLQ, DOK7, GFPT1, MUSK, RAPSN, SCN4A method(s): ◦ Mutation Scanning of Entire Coding Region ◦ Sequencing, Next Gen Sistemas Genomicos, Medical Genetics Unit - Paterna, Spain |
NGS of 2 genes: DOK7, RAPSN method(s): ◦ Mutation Scanning of Entire Coding Region ◦ Sequencing, Next Gen Sistemas Genomicos, Medical Genetics Unit - Paterna, Spain |
Congenital Myasthenic Syndrome Sequencing Panel method(s): ◦ Sequencing, Next Gen University of Chicago, Genetic Services Laboratory - Chicago, IL, USA |
Congenital Myasthenic Del/Dup Panel method(s): ◦ Del/Dup (CNV) University of Chicago, Genetic Services Laboratory - Chicago, IL, USA |
Fetal akinesia / congenital myasthenia method(s): ◦ Sequencing, Capillary (Sanger) Cologne University, Institute of Human Genetics - Cologne, Germany |
Congenital Myasthenia, Sequencing DOK7 Gene method(s): ◦ Sequencing, Capillary (Sanger) Reference Laboratory Genetics - Hospitalet de Llobregat, Spain |
Neuromuscular Diseases Panel method(s): ◦ Sequencing, Next Gen Genomic Laboratory of the DNA Research Center LTD (Centrum Badań DNA sp z o.o.) - Poznań, Poland |
Ion Channel Disorders Panel method(s): ◦ Sequencing, Next Gen Genomic Laboratory of the DNA Research Center LTD (Centrum Badań DNA sp z o.o.) - Poznań, Poland |
Myasthenia, congenital (sequence analysis of DOK7 gene) method(s): ◦ Sequencing, Capillary (Sanger) CGC Genetics - Porto, Portugal |
Pena-Shokeir syndrome type 1 (sequence analysis of DOK7 gene) method(s): ◦ Sequencing, Capillary (Sanger) CGC Genetics - Porto, Portugal |
Congenital Myasthenia, Panel Massive Sequencing (NGS) 12 Genes method(s): ◦ Sequencing, Next Gen Reference Laboratory Genetics - Hospitalet de Llobregat, Spain |
Congenital Myasthenic Syndrome (CMS) method(s): ◦ Sequencing, Next Gen MGZ München, Medizinisch Genetisches Zentrum München - München, Germany |
Newborn: “Floppy Infant “ method(s): ◦ Sequencing, Next Gen MGZ München, Medizinisch Genetisches Zentrum München - München, Germany |
Childhood: Muscle Weakness with Normal or Slightly Elevated CK / Congenital Myopathies method(s): ◦ Sequencing, Next Gen MGZ München, Medizinisch Genetisches Zentrum München - München, Germany |
Muscle Weakness Manifesting in Adulthood / Limb-Girdle Muscular Dystrophy (AD and AR) method(s): ◦ Sequencing, Next Gen MGZ München, Medizinisch Genetisches Zentrum München - München, Germany |
Fetal akinesia / Arthrogryposis Multiplex Congenital (AMC) method(s): ◦ Sequencing, Next Gen MGZ München, Medizinisch Genetisches Zentrum München - München, Germany |
Muscle Weakness (Myopathy, Muscular Dystrophy) method(s): ◦ Sequencing, Next Gen MGZ München, Medizinisch Genetisches Zentrum München - München, Germany |
Brain Malformations / Neuronal Migration Disorders method(s): ◦ Sequencing, Next Gen MGZ München, Medizinisch Genetisches Zentrum München - München, Germany |
Muscle Disease with Ptosis / External Ophthalmoplegia method(s): ◦ Sequencing, Next Gen MGZ München, Medizinisch Genetisches Zentrum München - München, Germany |
DOK7-Related Congenital Myasthenic Syndrome Test method(s): ◦ Sequencing, Capillary (Sanger) ◦ Sequencing, Next Gen MGZ München, Medizinisch Genetisches Zentrum München - München, Germany |
Congenital Myasthenic Syndromes and Arthrogryposis Panel method(s): ◦ Sequencing, Next Gen CeGaT GmbH - Tübingen, Germany |
Single gene testing DOK7 method(s): ◦ Sequencing, Capillary (Sanger) CeGaT GmbH - Tübingen, Germany |
Expanded Neuromuscular Disorders: Sequencing Panel method(s): ◦ Sequencing, Capillary (Sanger) ◦ Sequencing, Next Gen CEN4GEN Institute for Genomics and Molecular Diagnostics - Edmonton, Canada |
Congenital Myasthenic Syndromes: Sequencing Panel method(s): ◦ Sequencing, Capillary (Sanger) ◦ Sequencing, Next Gen CEN4GEN Institute for Genomics and Molecular Diagnostics - Edmonton, Canada |
Congenital Myasthenic Syndromes: Deletion/Duplication Panel method(s): ◦ Sequencing, Capillary (Sanger) ◦ Sequencing, Next Gen CEN4GEN Institute for Genomics and Molecular Diagnostics - Edmonton, Canada |
Myasthenic syndrome, congenital (NGS panel for 17genes) method(s): ◦ Sequencing, Next Gen CGC Genetics - Porto, Portugal |
Fetal akinesia deformation sequence Test method(s): ◦ Sequencing, Capillary (Sanger) bio.logis Center for Human Genetics - Frankfurt am Main, Germany |
Muscle disorders panel method(s): ◦ Sequencing, Next Gen Sherbrooke Genomic Medicine - Sherbrooke, Canada |
Neuromuscular Sequencing Panel method(s): ◦ Sequencing, Next Gen University of Chicago, Genetic Services Laboratory - Chicago, IL, USA |
Congenital Myasthenic Syndrome: DOK7 Related method(s): ◦ Genotyping (Microarray, Beads, etc.) Recombine - Livingston, NJ, 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 |
Comprehensive Ophthalmoplegia Syndromes (NextGen Sequencing Panel and Copy Number Analysis; 55 genes + mtDNA) method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen MNG Laboratories (Medical Neurogenetics, LLC.) - Atlanta, GA, USA |
Congenital Myasthenic Syndromes (NextGen Sequencing Panel and Copy Number Analysis; 17 Genes) method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen MNG Laboratories (Medical Neurogenetics, LLC.) - Atlanta, GA, USA |
DOK7 Full Gene Sequencing Analysis method(s): ◦ Sequencing, Capillary (Sanger) MNG Laboratories (Medical Neurogenetics, LLC.) - Atlanta, GA, USA |
Fetal Akinesia, Arthrogryposis, or Contractures (NextGen Sequencing Panel and Copy Number Analysis; 153 genes) method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen MNG Laboratories (Medical Neurogenetics, LLC.) - Atlanta, GA, USA |
Comprehensive Neuronal Migration Disorders (NextGen Sequencing Panel and Copy Number Analysis; 109 genes + mtDNA) method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen MNG Laboratories (Medical Neurogenetics, LLC.) - Atlanta, GA, USA |
Non-Mitochondrial Neuronal Migration Disorders (NextGen Sequencing Panel and Copy Number Analysis; 99 genes) method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen MNG Laboratories (Medical Neurogenetics, LLC.) - Atlanta, GA, USA |
Non-mitochondrial Comprehensive Ophthalmoplegia Syndromes (NextGen Sequencing Panel and Copy Number Analysis; 32 genes) method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen MNG Laboratories (Medical Neurogenetics, LLC.) - Atlanta, GA, USA |
Pena-Shokeir Type 1 Syndrome, Panel Massive Sequencing (NGS) DOK7, RAPSN, MUSK Genes method(s): ◦ Sequencing, Next Gen Reference Laboratory Genetics - Hospitalet de Llobregat, Spain |
Pena-Shokeir Type 1 Syndrome, Sequencing DOK7 Gene method(s): ◦ Sequencing, Capillary (Sanger) Reference Laboratory Genetics - Hospitalet de Llobregat, Spain |
Congenital Myasthenic Syndrome NGS Panel method(s): ◦ Sequencing, Next Gen ◦ Sequencing, Capillary (Sanger) ◦ Del/Dup (CNV) Fulgent Diagnostics - Temple City, CA, USA |
DOK7 method(s): ◦ Sequencing, Next Gen ◦ Sequencing, Capillary (Sanger) ◦ Del/Dup (CNV) Fulgent Diagnostics - Temple City, CA, USA |
Neuromuscular NGS Panel method(s): ◦ Sequencing, Next Gen ◦ Sequencing, Capillary (Sanger) ◦ Del/Dup (CNV) Fulgent Diagnostics - Temple City, CA, USA |
Multiple pterygium syndrome (NGS panel for 14 genes) method(s): ◦ Sequencing, Next Gen CGC Genetics - Porto, Portugal |
TAT: 3-4 weeks price: $690.00
Familial Limb Girdle Myasthenia Syndrome via the DOK7 Gene method(s): ◦ Del/Dup (CNV) PreventionGenetics (Prevention Genetics), Clinical DNA Testing and DNA Banking - Marshfield, WI, USA |
TAT: 3-4 weeks price: $1,290.00
Congenital Myasthenic Syndrome Deletion/Duplication Panel method(s): ◦ Del/Dup (CNV) PreventionGenetics (Prevention Genetics), Clinical DNA Testing and DNA Banking - Marshfield, WI, USA |
TAT: 3-4 weeks price: $1,290.00
Fetal Akinesia Deformation Sequence/Lethal Multiple Pterygium Syndrome Deletion/Duplication Panel method(s): ◦ Del/Dup (CNV) PreventionGenetics (Prevention Genetics), Clinical DNA Testing and DNA Banking - Marshfield, WI, USA |
TAT: 2-3 weeks price: $560.00
Familial Limb Girdle Myasthenia Syndrome via the DOK7 Gene method(s): ◦ Sequencing, Capillary (Sanger) PreventionGenetics (Prevention Genetics), Clinical DNA Testing and DNA Banking - Marshfield, WI, USA |
TAT: 3-5 weeks price: $1,690.00
Congenital Myasthenic Syndrome Sequencing Panel method(s): ◦ Sequencing, Next Gen PreventionGenetics (Prevention Genetics), Clinical DNA Testing and DNA Banking - Marshfield, WI, USA |
TAT: 3-5 weeks price: $1,440.00
Fetal Akinesia Deformation Sequence/Lethal Multiple Pterygium Syndrome Sequencing Panel method(s): ◦ Sequencing, Next Gen PreventionGenetics (Prevention Genetics), Clinical DNA Testing and DNA Banking - Marshfield, WI, USA |
TAT: 3-4 weeks price: $2,580.00
Comprehensive Fetal and Neonatal Loss Panel method(s): ◦ Microarray (CGH-Oligo, SNP, BAC) ◦ Sequencing, Next Gen PreventionGenetics (Prevention Genetics), Clinical DNA Testing and DNA Banking - Marshfield, WI, USA |
Myasthenic syndrome (Myasthenie) method(s): ◦ Sequencing, Next Gen Praxis fuer Humangenetik Wien - Vienna, Austria |
Arthrogryposis (Arthrogryposis) method(s): ◦ Sequencing, Next Gen Praxis fuer Humangenetik Wien - Vienna, Austria |
TAT: 3-5 weeks price: $1,590.00
Fetal Concerns Sequencing Panel method(s): ◦ Sequencing, Next Gen PreventionGenetics (Prevention Genetics), Clinical DNA Testing and DNA Banking - Marshfield, WI, USA |
Muscle Polyneuropathies, Panel Massive Sequencing (NGS) 112 Genes method(s): ◦ Sequencing, Next Gen Reference Laboratory Genetics - Hospitalet de Llobregat, Spain |
Congenital myasthenic syndrome method(s): ◦ Sequencing, Next Gen IBMC-Institute for Cell and Molecular Biology, CGPP - Center for Predictive and Preventive Genetics - Porto, Portugal |
TAT: 3-5 weeks price: $2,490.00
Comprehensive Neuromuscular Sequencing Panel method(s): ◦ Sequencing, Next Gen PreventionGenetics (Prevention Genetics), Clinical DNA Testing and DNA Banking - Marshfield, WI, USA |
TAT: 3-4 weeks price: $1,990.00
Comprehensive Neuromuscular Deletion/Duplication Panel method(s): ◦ Del/Dup (CNV) PreventionGenetics (Prevention Genetics), Clinical DNA Testing and DNA Banking - Marshfield, WI, USA |
Fetal akinesia deformation sequence method(s): ◦ Sequencing, Capillary (Sanger) ◦ Del/Dup (CNV) Centogene AG, Rare Disease Company - Rostock, Germany |
Arthrogryposis panel method(s): ◦ Mutation Scanning of Entire Coding Region ◦ Sequencing, Next Gen Centogene AG, Rare Disease Company - Rostock, Germany |
Congenital Myasthenia Spotlight Panel method(s): ◦ Sequencing, Next Gen Courtagen Life Sciences, Courtagen Diagnostics Laboratory - Woburn, MA, USA |
CentoICU Platinum method(s): ◦ Sequencing, Next Gen Centogene AG, Rare Disease Company - Rostock, Germany |
Congenital myasthenic syndrome panel method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen Centogene AG, Rare Disease Company - Rostock, Germany |
NGS Neuromuscular Disorders Panel method(s): ◦ Sequencing, Next Gen Greenwood Genetic Center Diagnostic Laboratories - Greenwood, SC, USA |
TAT: 1-3 weeks price: $1,500.00
Invitae Congenital Myasthenic Syndrome Panel method(s): ◦ Sequencing, Next Gen ◦ Del/Dup (CNV) Invitae - San Francisco, CA, USA |
TAT: 1-3 weeks price: $1,500.00
Invitae Comprehensive Neuromuscular Disorders Panel method(s): ◦ Sequencing, Next Gen ◦ Del/Dup (CNV) Invitae - San Francisco, CA, USA |
Neuromuscular Comprehensive Panel method(s): ◦ Sequencing, Next Gen Courtagen Life Sciences, Courtagen Diagnostics Laboratory - Woburn, MA, USA |
Arthrogryposes 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 |
Congenital Myasthenic Syndromes Panel method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen Blueprint Genetics, Helsinki - Helsinki, Finland |
Fetal Akinesia Deformation Sequence / LMPS / Related Disorder Panel method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen Blueprint Genetics, Helsinki - Helsinki, Finland |
Arthrogryposes 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 |
Congenital Myasthenic Syndromes Panel method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen Blueprint Genetics, San Francisco - San Francisco, CA, USA |
Fetal Akinesia Deformation Sequence / LMPS / Related Disorder Panel method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen Blueprint Genetics, San Francisco - San Francisco, CA, USA |
GeneAware Complete Panel Version 2 (Female) method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen Baylor Miraca Genetics Laboratories - Houston, TX, USA |
GeneAware Complete Panel Version 2 (Male) method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen Baylor Miraca Genetics Laboratories - Houston, TX, USA |