Childhood Ataxia with Central Nervous System Hypomyelination: EIF2B1-EIF2B5 Gene Sequencing Panel
method(s):
Emory University School of Medicine, Emory Molecular Genetics Laboratory - Atlanta, GA, USA |
Childhood Ataxia with Central Nervous System Hypomyelination: EIF2B1-EIF2B5 Gene Deletion/Duplication Panel
method(s):
Emory University School of Medicine, Emory Molecular Genetics Laboratory - Atlanta, GA, USA |
Childhood Ataxia with Central Nervous System Hypomyelination: EIF2B1 Gene Sequencing
method(s):
Emory University School of Medicine, Emory Molecular Genetics Laboratory - Atlanta, GA, USA |
Childhood Ataxia with Central Nervous System Hypomyelination: EIF2B1 Gene Deletion/Duplication
method(s):
Emory University School of Medicine, Emory Molecular Genetics Laboratory - Atlanta, GA, USA |
Sanger sequencing of the EIF2B1 gene
method(s): ◦ Mutation Scanning of Entire Coding Region ◦ Sequencing, Capillary (Sanger)
Sistemas Genomicos, Medical Genetics Unit - Paterna, Spain |
NGS of 55 genes: SOD1, TARDBP, TMEM67, VAPB, VLDLR. ABCB7, ABHD12, ADCK3, ALS2, ANG, ATCAY, ATM, ATR, CA8, CEP290, C10orf2, COQ2, COQ9, CYP27A1, DNAJC19, EIF2B1, EIF2B2, EIF2B3, EIF2B4, EIF2B5, FIG4, FLVCR1, FMR1, FUS, GJC2, GPR56, HSPD1, ITM2B, KCNJ10, K
method(s): ◦ Mutation Scanning of Entire Coding Region ◦ Sequencing, Next Gen
Sistemas Genomicos, Medical Genetics Unit - Paterna, Spain |
NGS of 5 genes: EIF2B1, EIF2B2, EIF2B3, EIF2B4, EIF2B5.
method(s): ◦ Mutation Scanning of Entire Coding Region ◦ Sequencing, Next Gen
Sistemas Genomicos, Medical Genetics Unit - Paterna, Spain |
NGS of 38 genes: ABCD1, ARSA,ASPA,CSF1R,EIF2B1 ,EIF2B2,EIF2B3,EIF2B4,EIF2B5,FAM126A,GALC,GFAP, GJ C2,HSPD1,MLC1,NOTCH3,PEX1,PEX2,PEX3,PEX5,PEX6,PEX7 ,PEX10,PEX12,PEX13,PEX14, PEX26,PLP1,POLR3A,PSAP,R NASEH2A,RNASEH2B,RNASEH2C,SAMHD1,SDHA,SOX10,SUMF1, TREX
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 |
epiSEEK® Comprehensive Sequence Analysis for Epilepsy and Seizure Disorders
method(s): ◦ Sequencing, Next Gen
Courtagen Life Sciences, Courtagen Diagnostics Laboratory - Woburn, MA, USA |
devACT Clinical Management Panel, Developmental Delay, Intellectual Disability, Autism Spectrum Disorders
method(s): ◦ Sequencing, Next Gen
Courtagen Life Sciences, Courtagen Diagnostics Laboratory - Woburn, MA, USA |
Leukoencephalopathy with Vanishing White Matter, Sequencing EIF2B1 Gene
method(s): ◦ Sequencing, Capillary (Sanger)
Reference Laboratory Genetics - Hospitalet de Llobregat, Spain |
Leukoencephalopathy with Vanishing White Matter , Panel Sequencing (EIF2B1, EIFB5, EIFB2, EIFB3, EIFB4) Genes
method(s): ◦ Sequencing, Next Gen
Reference Laboratory Genetics - Hospitalet de Llobregat, Spain |
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 |
Brain Development Disorders Panel
method(s): ◦ Sequencing, Next Gen
Genomic Laboratory of the DNA Research Center LTD (Centrum Badań DNA sp z o.o.) - Poznań, Poland |
Epilepsy Panel
method(s): ◦ Sequencing, Next Gen
Genomic Laboratory of the DNA Research Center LTD (Centrum Badań DNA sp z o.o.) - Poznań, Poland |
Comprehensive Panel: Developmental Delay, Intellectual Disability, Autism Spectrum Disorders
method(s): ◦ Sequencing, Next Gen
Genomic Laboratory of the DNA Research Center LTD (Centrum Badań DNA sp z o.o.) - Poznań, Poland |
Leukoencephalopathy with vanishing white matter (sequence analysis of EIF2B1 gene)
method(s): ◦ Sequencing, Capillary (Sanger)
CGC Genetics - Porto, Portugal |
Leukodystrophy / Leukencephalopathy Panel
method(s): ◦ Sequencing, Next Gen
CeGaT GmbH - Tübingen, Germany |
Ataxia and Differential Diagnoses Panel
method(s): ◦ Repeat Expansion / Contraction ◦ Sequencing, Next Gen
CeGaT GmbH - Tübingen, Germany |
Leukodystrophy / Leukencephalopathy and Differential Diagnoses Panel
method(s): ◦ Sequencing, Next Gen
CeGaT GmbH - Tübingen, Germany |
Leukoencephalopathy with vanishing white matter (NGS panel for 5 genes)
method(s): ◦ Sequencing, Next Gen
CGC Genetics - Porto, Portugal |
Leukodystrophies, Panel Massive Sequencing (NGS) 58 genes
method(s): ◦ Sequencing, Next Gen
Reference Laboratory Genetics - Hospitalet de Llobregat, Spain |
Childhood Ataxia with Central Nervous System Hypomyelination: EIF2B1-EIF2B5 Gene Deletion/Duplication Panel
method(s): ◦ Del/Dup (CNV)
CEN4GEN Institute for Genomics and Molecular Diagnostics - Edmonton, Canada |
Childhood Ataxia with Central Nervous System Hypomyelination: EIF2B1-EIF2B5 Gene Sequencing Panel
method(s): ◦ Sequencing, Capillary (Sanger) ◦ Sequencing, Next Gen
CEN4GEN Institute for Genomics and Molecular Diagnostics - Edmonton, Canada |
Childhood Ataxia with Central Nervous System Hypomyelination: EIF2B1 Gene Deletion/Duplication
method(s): ◦ Del/Dup (CNV)
CEN4GEN Institute for Genomics and Molecular Diagnostics - Edmonton, Canada |
Childhood Ataxia with Central Nervous System Hypomyelination: EIF2B1 Gene Sequencing
method(s): ◦ Sequencing, Capillary (Sanger) ◦ Sequencing, Next Gen
CEN4GEN Institute for Genomics and Molecular Diagnostics - Edmonton, Canada |
Comprehensive Neurogenetics Panel (290 genes)
method(s): ◦ Sequencing, Next Gen
Sherbrooke Genomic Medicine - Sherbrooke, Canada |
EIF2B1 Full Gene Sequencing Analysis
method(s): ◦ Sequencing, Capillary (Sanger)
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 |
Comprehensive Leukodystrophy/Leukoencephalopathy (NextGen Sequencing Panel and Copy Number Analysis; 104 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 |
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 |
Syndromic Intellectual Disability (NextGen Sequencing Panel and Copy Number Analysis; 577 genes)
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen
MNG Laboratories (Medical Neurogenetics, LLC.) - Atlanta, GA, USA |
Vanishing White Matter Disease Full Gene Sequencing Analysis Panel (5 genes)
method(s): ◦ Sequencing, Next Gen
MNG Laboratories (Medical Neurogenetics, LLC.) - Atlanta, GA, USA |
Macrocephaly and Overgrowth Syndromes (NextGen Sequencing Panel and Copy Number Analysis; 114 Genes)
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen
MNG Laboratories (Medical Neurogenetics, LLC.) - Atlanta, GA, USA |
Non-Mitochondrial Leukodystrophy/Leukoencephalopathy (NextGen Sequencing Panel and Copy Number Analysis; 53 genes)
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen
MNG Laboratories (Medical Neurogenetics, LLC.) - Atlanta, GA, USA |
Vanishing White Matter, Dysmyelinating, and Hypomyelinating Leukodystrophy (NextGen Sequencing Panel and Copy Number Analysis; 62 genes)
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen
MNG Laboratories (Medical Neurogenetics, LLC.) - Atlanta, GA, USA |
EIF2B1
method(s): ◦ Sequencing, Next Gen ◦ Sequencing, Capillary (Sanger) ◦ Del/Dup (CNV)
Fulgent Diagnostics - Temple City, CA, USA |
Leukoencephalopathy NGS Panel
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 |
TAT: 3-4 weeks
price: $690.00
Leukoencephalopathy with Vanishing White Matter and Ovarioleukodystrophy via the EIF2B1 Gene
method(s): ◦ Del/Dup (CNV)
PreventionGenetics (Prevention Genetics), Clinical DNA Testing and DNA Banking - Marshfield, WI, USA |
TAT: 3-4 weeks
price: $840.00
Leukoencephalopathy with Vanishing White Matter and Ovarioleukodystrophy 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: $650.00
Leukoencephalopathy with Vanishing White Matter and Ovarioleukodystrophy via the EIF2B1 Gene
method(s): ◦ Sequencing, Capillary (Sanger)
PreventionGenetics (Prevention Genetics), Clinical DNA Testing and DNA Banking - Marshfield, WI, USA |
TAT: 3-5 weeks
price: $1,440.00
Leukoencephalopathy with Vanishing White Matter and Ovarioleukodystrophy Sequencing Panel
method(s): ◦ Sequencing, Next Gen
PreventionGenetics (Prevention Genetics), Clinical DNA Testing and DNA Banking - Marshfield, WI, USA |
Leukoencephalopathy (Leukenzephalopathie)
method(s): ◦ Sequencing, Next Gen
Praxis fuer Humangenetik Wien - Vienna, Austria |
Metachromatic Leukodystrophy (Metachromatische Leukodystrophie)
method(s): ◦ Sequencing, Next Gen
Praxis fuer Humangenetik Wien - Vienna, Austria |
Progressive and non-progressive ataxia
method(s): ◦ Sequencing, Next Gen
Sherbrooke Genomic Medicine - Sherbrooke, Canada |
Dystonia panel
method(s): ◦ Sequencing, Next Gen
Sherbrooke Genomic Medicine - Sherbrooke, Canada |
Developmental regression/dementia/psychosis panel
method(s): ◦ Sequencing, Next Gen
Sherbrooke Genomic Medicine - Sherbrooke, Canada |
Leukodystrophy panel
method(s): ◦ Sequencing, Next Gen
Sherbrooke Genomic Medicine - Sherbrooke, Canada |
Leukoencephalopathy with vanishing white matter
method(s): ◦ Sequencing, Capillary (Sanger) ◦ Del/Dup (CNV)
Centogene AG, Rare Disease Company - Rostock, Germany |
Vanishing White Matter 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 |
TAT: 3-5 weeks
price: $2,240.00
Disorders of Sex Development and Infertility Sequencing Panel
method(s): ◦ Sequencing, Next Gen
PreventionGenetics (Prevention Genetics), Clinical DNA Testing and DNA Banking - Marshfield, WI, USA |
TAT: 3-4 weeks
price: $1,670.00
Disorders of Sex Development and Infertility Deletion/Duplication Panel
method(s): ◦ Del/Dup (CNV)
PreventionGenetics (Prevention Genetics), Clinical DNA Testing and DNA Banking - Marshfield, WI, USA |
TAT: 3-5 weeks
price: $1,990.00
Female Infertility Sequencing Panel
method(s): ◦ Sequencing, Next Gen
PreventionGenetics (Prevention Genetics), Clinical DNA Testing and DNA Banking - Marshfield, WI, USA |
TAT: 3-4 weeks
price: $1,670.00
Female Infertility Deletion/Duplication Panel
method(s): ◦ Del/Dup (CNV)
PreventionGenetics (Prevention Genetics), Clinical DNA Testing and DNA Banking - Marshfield, WI, USA |
Leukodystrophy and peroxisome biogenesis disorders panel
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen
Centogene AG, Rare Disease Company - Rostock, Germany |
Comprehensive Epilepsy Panel
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen
Blueprint Genetics, Helsinki - Helsinki, Finland |
Leukodystrophy and Leukoencephalopathy Panel
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen
Blueprint Genetics, Helsinki - Helsinki, Finland |
Comprehensive Epilepsy Panel
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen
Blueprint Genetics, San Francisco - San Francisco, CA, USA |
Leukodystrophy and Leukoencephalopathy Panel
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen
Blueprint Genetics, San Francisco - San Francisco, CA, USA |
