Expanded Neuromuscular Disorders: Sequencing and Deletion/Duplication Panel
method(s):
Emory University School of Medicine, Emory Molecular Genetics Laboratory - Atlanta, GA, USA |
NGS of 34 genes: ACT A1, ATP2A1, BAG3, BIN1, CAV3, CFL2, CLCN1, CNTN1, COL6A1, COL6A2, COL6A3, CRYAB, DES, DNM2, DYSF, FH L1, FLNC, GNE, ISCU, KBTBD13, LDB3, MATR3, MTM1, M YH2, MYH7, MYOT, NEB, RYR1, SEPN1, TNNT1, TPM2, TP M3, TTN, VCP
method(s): ◦ Mutation Scanning of Entire Coding Region ◦ Sequencing, Next Gen
Sistemas Genomicos, Medical Genetics Unit - Paterna, Spain |
NGS of 6 genes: GNE, ISCU, MYH2, MYH7, MYOT, VCP
method(s): ◦ Mutation Scanning of Entire Coding Region ◦ Sequencing, Next Gen
Sistemas Genomicos, Medical Genetics Unit - Paterna, Spain |
Familial Adenomatous Polyposis Type 2, Screening Mutations MUTYH Gene
method(s): ◦ Mutation Scanning of Entire Coding Region
Reference Laboratory Genetics - Hospitalet de Llobregat, Spain |
Familial Adenomatous Polyposis Type 2 , Sequencing MUTYH 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 |
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 |
MYH2
method(s): ◦ Sequencing, Capillary (Sanger) ◦ Sequencing, Next Gen
MGZ München, Medizinisch Genetisches Zentrum München - München, Germany |
Congenital and Distal Myopathies Panel
method(s): ◦ Sequencing, Next Gen
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 |
Neuromuscular Sequencing Panel
method(s): ◦ Sequencing, Next Gen
University of Chicago, Genetic Services Laboratory - Chicago, IL, 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 |
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 |
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 |
MYH2
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 |
Comprehensive Hereditary Breast-Ovarian Cancer Panel
method(s): ◦ Sequencing, Next Gen
NeoGenomics Laboratories - Fort Myers, FL, USA |
TAT: 3-4 weeks
price: $690.00
Inclusion Body Myopathy and Autosomal Recessive, Early Onset Myopathy via the MYH2 Gene
method(s): ◦ Del/Dup (CNV)
PreventionGenetics (Prevention Genetics), Clinical DNA Testing and DNA Banking - Marshfield, WI, USA |
TAT: 2-3 weeks
price: $1,650.00
Inclusion Body Myopathy and Autosomal Recessive, Early Onset Myopathy via the MYH2 Gene
method(s): ◦ Sequencing, Capillary (Sanger)
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 |
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 |
Inclusion body myopathy
method(s): ◦ Sequencing, Capillary (Sanger) ◦ Del/Dup (CNV)
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 Inclusion Body Myopathy 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 |
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 |
