Epilepsy and Seizure Disorders: Sequencing and Deletion/Duplication Panel
method(s):
Emory University School of Medicine, Emory Molecular Genetics Laboratory - Atlanta, GA, USA |
NGS of 62 genes: ABCC9, AKAP9, ANK2, BAG3, SCNN1G, SNTA1, TGFB3, TMEM43, TRPM4, TTN. CACNA1B, CACNA1C, CACNA1D, CACNA2D1, CACNB2, CASQ2, CAV3, CRYAB, DES, DPP6, DSC2, DSG2, DSP, FLNC, GJA1, GJA5, GPD1L, HCN1, HCN4, JUP, KCNA5, KCND3, KCNE1, KCNE1L, KCNE2,
method(s): ◦ Mutation Scanning of Entire Coding Region ◦ Sequencing, Next Gen
Sistemas Genomicos, Medical Genetics Unit - Paterna, Spain |
NGS of 62 genes: ABCC9, AKAP9, ANK2, BAG3, SCNN1G, SNTA1, TGFB3, TMEM43, TRPM4, TTN and Detection of large deletions and/or duplications in the KCNE1, KCNQ1, KCNH2, KCNE2, SCN5A by MLPA. CACNA1B, CACNA1C, CACNA1D, CACNA2D1, CACNB2, CASQ2, CAV3, CRYAB, DES
method(s): ◦ Del/Dup (CNV) ◦ Mutation Scanning of Entire Coding Region ◦ Sequencing, Next Gen
Sistemas Genomicos, Medical Genetics Unit - Paterna, Spain |
NGS of 154 genes, ABCA1, ABCC6, ABCC9, ACTA2, HRAS, ILK, JPH2, JUP, KCNA5, KCND3, KCNE1, KCNE1L, KCNE2, KCNE3, KCNE4, KCNH2, KCNJ11, KCNJ12, KCNJ2, KCNJ3, KCNJ5, KCNJ8, KCNQ1, KCNQ2, KRAS, LAMA4, LAMP2, LDB3, LDLR, LMNA, LPL, LRP6, MAP2K1, MAP2K2, MEF2A..
method(s): ◦ Mutation Scanning of Entire Coding Region ◦ Sequencing, Next Gen
Sistemas Genomicos, Medical Genetics Unit - Paterna, Spain |
NGS of 19 genes: ABCC9, CACNA1D, GJA1, GJA5, HCN1, KCNA5, KCNE1L, KCNE2, KCNE4, KCNH2, KCNJ2, KCNQ1, NPPA, RANGRF, SCN2B, SCN5A, SCN10A, SCNN1B, SCNN1G
method(s): ◦ Mutation Scanning of Entire Coding Region ◦ Sequencing, Next Gen
Sistemas Genomicos, Medical Genetics Unit - Paterna, Spain |
NGS of 19 genes: ABCC9, CACNA1D, GJA1, GJA5, HCN1, KCNA5, KCNE1L, KCNE2, KCNE4, KCNH2, KCNJ2, KCNQ1, NPPA, RANGRF, SCN2B, SCN5A, SCN10A, SCNN1B, SCNN1G and Detection of large deletions and/ or duplication in genes KCNQ1, KCNH2, KCNE2, SCN5A by MLPA
method(s): ◦ Del/Dup (CNV) ◦ Mutation Scanning of Entire Coding Region ◦ Sequencing, Next Gen
Sistemas Genomicos, Medical Genetics Unit - Paterna, Spain |
NGS of 17 genes: DES, EMD, GAA, GLA, HCN1, HCN4, KCNA5, KCNQ1, LAMP2, LMNA, MYH6, NKX2-5, PRKAG2, SCN5A, SCN1B, SCN4B, TRPM4
method(s): ◦ Mutation Scanning of Entire Coding Region ◦ Sequencing, Next Gen
Sistemas Genomicos, Medical Genetics Unit - Paterna, Spain |
Ataxia Exome Panel
method(s): ◦ Sequencing, Next Gen
University of Chicago, Genetic Services Laboratory - Chicago, IL, USA |
Early Infantile Epileptic Encephalopathy Panel
method(s): ◦ Sequencing, Next Gen
University of Chicago, Genetic Services Laboratory - Chicago, IL, USA |
epiSEEK® Comprehensive Sequence Analysis for Epilepsy and Seizure Disorders
method(s): ◦ Sequencing, Next Gen
Courtagen Life Sciences, Courtagen Diagnostics Laboratory - Woburn, MA, USA |
Cardiac Diseases Panel
method(s): ◦ Sequencing, Next Gen
Genomic Laboratory of the DNA Research Center LTD (Centrum Badań DNA sp z o.o.) - Poznań, Poland |
HCN1
method(s): ◦ Sequencing, Next Gen
Amplexa Genetics A/S, Amplexa Genetics, Amplexa - Odense C, Denmark |
Epileptic Encephalopathy, Panel Massive Sequencing (NGS) 33 Genes
method(s): ◦ Sequencing, Next Gen
Reference Laboratory Genetics - Hospitalet de Llobregat, Spain |
Childhood Epilepsy Panel
method(s): ◦ Sequencing, Next Gen
Amplexa Genetics A/S, Amplexa Genetics, Amplexa - Odense C, Denmark |
Epileptic Encephalopathy (HCN1 gene)
method(s): ◦ Sequencing, Capillary (Sanger)
Diagnostic Service Facility (DSF) - Antwerp, Belgium |
Epileptic Encephalopathy – Basic Diagnostics
method(s): ◦ Sequencing, Next Gen
MGZ München, Medizinisch Genetisches Zentrum München - München, Germany |
Epileptic Encephalopathy
method(s): ◦ Sequencing, Next Gen
MGZ München, Medizinisch Genetisches Zentrum München - München, Germany |
Epilepsy
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 |
Epilepsy and Mitochondrial Encephalopathy
method(s): ◦ Sequencing, Next Gen
MGZ München, Medizinisch Genetisches Zentrum München - München, Germany |
Febrile Seizures
method(s): ◦ Sequencing, Next Gen
MGZ München, Medizinisch Genetisches Zentrum München - München, Germany |
HCN1
method(s): ◦ Sequencing, Capillary (Sanger) ◦ Sequencing, Next Gen
MGZ München, Medizinisch Genetisches Zentrum München - München, Germany |
Ataxia and Differential Diagnoses Panel
method(s): ◦ Repeat Expansion / Contraction ◦ Sequencing, Next Gen
CeGaT GmbH - Tübingen, Germany |
Early infantile epileptic encephalopathy (NGS panel for 26 genes)
method(s): ◦ Sequencing, Next Gen
CGC Genetics - Porto, Portugal |
Epilepsy and Seizure Disorders: Sequencing Panel
method(s): ◦ Sequencing, Capillary (Sanger) ◦ Sequencing, Next Gen
CEN4GEN Institute for Genomics and Molecular Diagnostics - Edmonton, Canada |
Epilepsy and Seizure Disorders: Deletion/Duplication Panel
method(s): ◦ Del/Dup (CNV)
CEN4GEN Institute for Genomics and Molecular Diagnostics - Edmonton, Canada |
Epileptic encephalopathy (NGS panel for 67 genes)
method(s): ◦ Sequencing, Next Gen
CGC Genetics - Porto, Portugal |
EpiFirst - Fever
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen
Ambry Genetics Corp, Ambry Genetics - Aliso Viejo, CA, USA |
EpilepsyNext
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen
Ambry Genetics Corp, Ambry Genetics - Aliso Viejo, CA, USA |
Epilepsy Exome Panel
method(s): ◦ Sequencing, Next Gen
University of Chicago, Genetic Services Laboratory - Chicago, IL, USA |
Neurodevelopment -Expanded
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen
Ambry Genetics Corp, Ambry Genetics - Aliso Viejo, CA, USA |
IDNext - Intellectual Disability Panel
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen
Ambry Genetics Corp, Ambry Genetics - Aliso Viejo, CA, USA |
Ataxia/Episodic Ataxia Disorders (NextGen Sequencing Panel and Copy Number Analysis; 330 Genes + mtDNA)
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen
MNG Laboratories (Medical Neurogenetics, LLC.) - Atlanta, GA, USA |
Comprehensive Epilepsy (NextGen Sequencing Panel and Copy Number Analysis; 502 genes + mtDNA)
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen
MNG Laboratories (Medical Neurogenetics, LLC.) - Atlanta, GA, USA |
Epileptic Encephalopathy (NextGen Sequencing Panel and Copy Number Analysis; 122 Genes)
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen
MNG Laboratories (Medical Neurogenetics, LLC.) - Atlanta, GA, USA |
Nonsyndromic Intellectual Disability (NextGen Sequencing Panel and Copy Number Analysis; 191 genes)
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen
MNG Laboratories (Medical Neurogenetics, LLC.) - Atlanta, GA, USA |
Comprehensive Intellectual Disability (NextGen Sequencing Panel and Copy Number Analysis; 734 Genes)
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen
MNG Laboratories (Medical Neurogenetics, LLC.) - Atlanta, GA, USA |
Cardiology Genetic Panel (Full), Panel Massive Sequencing (NGS) 110 Genes
method(s): ◦ Sequencing, Next Gen
Reference Laboratory Genetics - Hospitalet de Llobregat, Spain |
HCN1
method(s): ◦ Sequencing, Next Gen ◦ Sequencing, Capillary (Sanger) ◦ Del/Dup (CNV)
Fulgent Diagnostics - Temple City, CA, USA |
Comprehensive Epilepsy Panel
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Capillary (Sanger) ◦ Sequencing, Next Gen
Fulgent Diagnostics - Temple City, CA, USA |
Essential Epilepsy Panel
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Capillary (Sanger) ◦ Sequencing, Next Gen
Fulgent Diagnostics - Temple City, CA, USA |
Early Onset Epileptic Encephalopathy Panel
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Capillary (Sanger) ◦ Sequencing, Next Gen
Fulgent Diagnostics - Temple City, CA, USA |
TAT: 12-13 weeks
price: $1,900.00
ExoNIM Plus Epìlepsy
method(s): ◦ Sequencing, Capillary (Sanger) ◦ Sequencing, Next Gen
NIMGenetics Genomics & Medicine. (New Integrated Medical Genetics). - Madrid, Spain |
TAT: 3-5 weeks
price: $1,490.00
Early Infantile Epileptic Encephalopathy Sequencing Panel
method(s): ◦ Sequencing, Next Gen
PreventionGenetics (Prevention Genetics), Clinical DNA Testing and DNA Banking - Marshfield, WI, USA |
TAT: 3-5 weeks
price: $1,290.00
Early Infantile Epileptic Encephalopathy: Dominant and X-linked Sequencing Panel
method(s): ◦ Sequencing, Next Gen
PreventionGenetics (Prevention Genetics), Clinical DNA Testing and DNA Banking - Marshfield, WI, USA |
Epilepsy
method(s): ◦ Sequencing, Next Gen
Asper Biotech Ltd., Asper Biotech - Tartu, Estonia |
CustomNext - Epilepsy
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen
Ambry Genetics Corp, Ambry Genetics - Aliso Viejo, CA, USA |
Ataxia/Episodic Ataxia Disorders (NextGen Sequencing Panel, Copy Number Analysis; 330 Genes + mtDNA + HTT Repeat Expansion Analysis)
method(s): ◦ Del/Dup (CNV) ◦ Repeat Expansion / Contraction ◦ Sequencing, Next Gen
MNG Laboratories (Medical Neurogenetics, LLC.) - Atlanta, GA, USA |
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 |
TAT: 2-3 weeks
price: $910.00
Early Infantile Epileptic Encephalopathy 24 via the HCN1 Gene
method(s): ◦ Sequencing, Capillary (Sanger)
PreventionGenetics (Prevention Genetics), Clinical DNA Testing and DNA Banking - Marshfield, WI, USA |
Early infantile epileptic encephalopathy type 24
method(s): ◦ Sequencing, Capillary (Sanger) ◦ Del/Dup (CNV)
Centogene AG, Rare Disease Company - Rostock, Germany |
Early Infantile Epileptic Encephalopathy (EIEE) Spotlight Panel
method(s): ◦ Sequencing, Next Gen
Courtagen Life Sciences, Courtagen Diagnostics Laboratory - Woburn, MA, USA |
Early Infantile Epileptic Encephalopathy, Panel Massive Sequencing (NGS) 30 Genes
method(s): ◦ Sequencing, Next Gen
Reference Laboratory Genetics - Hospitalet de Llobregat, Spain |
Ataxia/Episodic Ataxia Disorders (NextGen Sequencing Panel and Copy Number Analysis; 330 Genes + mtDNA + SCA and HTT Repeat Expansion Analysis)
method(s): ◦ Del/Dup (CNV) ◦ Repeat Expansion / Contraction ◦ Sequencing, Next Gen
MNG Laboratories (Medical Neurogenetics, LLC.) - Atlanta, GA, USA |
Ataxia/Episodic Ataxia Disorders (NextGen Sequencing Panel and Copy Number Analysis; 330 Genes + mtDNA + FRDA Repeat Expansion Analysis)
method(s): ◦ Del/Dup (CNV) ◦ Repeat Expansion / Contraction ◦ Sequencing, Next Gen
MNG Laboratories (Medical Neurogenetics, LLC.) - Atlanta, GA, USA |
Ataxia/Episodic Ataxia Disorders (NextGen Sequencing Panel and Copy Number Analysis; 330 Genes + mtDNA + SCA and FRDA Repeat Expansion Analysis)
method(s): ◦ Del/Dup (CNV) ◦ Repeat Expansion / Contraction ◦ Sequencing, Next Gen
MNG Laboratories (Medical Neurogenetics, LLC.) - Atlanta, GA, USA |
HCN1 Single Gene Test
method(s): ◦ Sequencing, Next Gen
Courtagen Life Sciences, Courtagen Diagnostics Laboratory - Woburn, MA, USA |
Epilepsy and Developmental Delay (incl. Epileptic Encephalopathies) (78 Genes, EPI02)
method(s): ◦ Sequencing, Next Gen
CeGaT GmbH - Tübingen, Germany |
TAT: 1-3 weeks
price: $1,500.00
Invitae Epilepsy Panel
method(s): ◦ Sequencing, Next Gen ◦ Del/Dup (CNV)
Invitae - San Francisco, CA, USA |
TAT: 1-3 weeks
price: $1,500.00
Invitae Early Infantile Epileptic Encephalopathy Panel
method(s): ◦ Sequencing, Next Gen ◦ Del/Dup (CNV)
Invitae - San Francisco, CA, USA |
Comprehensive Epilepsy Panel
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen
Blueprint Genetics, Helsinki - Helsinki, Finland |
Epileptic Encephalopathy Panel
method(s): ◦ Sequencing, Next Gen ◦ Del/Dup (CNV)
Blueprint Genetics, Helsinki - Helsinki, Finland |
Comprehensive Epilepsy Panel
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen
Blueprint Genetics, San Francisco - San Francisco, CA, USA |
Epileptic Encephalopathy Panel
method(s): ◦ Sequencing, Next Gen ◦ Del/Dup (CNV)
Blueprint Genetics, San Francisco - San Francisco, CA, USA |
