Rett/AngelmanNext (Rett and Angelman Syndromes) method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen Ambry Genetics Corp, Ambry Genetics - Aliso Viejo, CA, USA |
NGS Syndromic Autism Panel method(s): ◦ Sequencing, Next Gen Greenwood Genetic Center Diagnostic Laboratories - Greenwood, SC, USA |
Pitt-Hopkins Syndrome Test method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Capillary (Sanger) Greenwood Genetic Center Diagnostic Laboratories - Greenwood, SC, USA |
Autism Spectrum Disorders Test method(s): ◦ Del/Dup (CNV) ◦ Methylation Analysis ◦ Microarray (CGH-Oligo, SNP, BAC) ◦ Mutation Scanning of Entire Coding Region ◦ Repeat Expansion / Contraction ◦ Sequencing, Capillary (Sanger) University of Michigan, Michigan Medical Genetics Laboratories - Ann Arbor, MI, USA |
Autism Spectrum Disorders Panel Test method(s): ◦ Sequencing, Next Gen ApolloGen, Inc. - Irvine, CA, USA |
Pitt Hopkins syndrome (TCF4 deletion/duplication analysis) method(s): ◦ Del/Dup (CNV) Children's Hospital of Philadelphia, Division of Genomic Diagnostics - Philadelphia, PA, USA |
Pitt Hopkins syndrome (TCF4 sequence and deletion/duplication analysis) method(s): ◦ Sequencing, Capillary (Sanger) ◦ Del/Dup (CNV) Children's Hospital of Philadelphia, Division of Genomic Diagnostics - Philadelphia, PA, USA |
Pitt Hopkins syndrome (TCF4 sequence analysis) method(s): ◦ Sequencing, Capillary (Sanger) Children's Hospital of Philadelphia, Division of Genomic Diagnostics - Philadelphia, PA, USA |
Pitt Hopkins syndrome (TCF4 analysis for a known point mutation) method(s): ◦ Sequencing, Capillary (Sanger) Children's Hospital of Philadelphia, Division of Genomic Diagnostics - Philadelphia, PA, USA |
Pitt-Hopkins Syndrome: TCF4 Gene Deletion/Duplication method(s): Emory University School of Medicine, Emory Molecular Genetics Laboratory - Atlanta, GA, USA |
Epilepsy and Seizure Disorders: Sequencing and Deletion/Duplication Panel method(s): Emory University School of Medicine, Emory Molecular Genetics Laboratory - Atlanta, GA, USA |
Autism Panel: Tier 2 method(s): Emory University School of Medicine, Emory Molecular Genetics Laboratory - Atlanta, GA, USA |
Neurology: Sequencing Panel method(s): Emory University School of Medicine, Emory Molecular Genetics Laboratory - Atlanta, GA, USA |
Pitt-Hopkins Syndrome: TCF4 Gene Sequencing method(s): Emory University School of Medicine, Emory Molecular Genetics Laboratory - Atlanta, GA, USA |
Angelman Syndrome Tier 2 Panel method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen University of Chicago, Genetic Services Laboratory - Chicago, IL, USA |
Rett/Angelman Syndrome Sequencing Panel method(s): ◦ Sequencing, Next Gen University of Chicago, Genetic Services Laboratory - Chicago, IL, USA |
Rett/Angelman Syndrome Deletion / Duplication / Copy Number (Array, MLPA, Q-PCR, etc.) Panel method(s): ◦ Del/Dup (CNV) University of Chicago, Genetic Services Laboratory - Chicago, IL, USA |
Ataxia Exome Panel method(s): ◦ Sequencing, Next Gen University of Chicago, Genetic Services Laboratory - Chicago, IL, USA |
Non-Specific ID SequencingPanel method(s): ◦ Sequencing, Next Gen University of Chicago, Genetic Services Laboratory - Chicago, IL, USA |
Microcephaly Sequencing Panel method(s): ◦ Sequencing, Next Gen University of Chicago, Genetic Services Laboratory - Chicago, IL, USA |
TCF4 sequencing method(s): ◦ Sequencing, Next Gen University of Chicago, Genetic Services Laboratory - Chicago, IL, USA |
TCF4 deletion/duplication method(s): ◦ Del/Dup (CNV) University of Chicago, Genetic Services Laboratory - Chicago, IL, USA |
Rett/Angelman Syndrome Sequencing Panel method(s): ◦ Sequencing, Next Gen University of Chicago, Genetic Services Laboratory - Chicago, IL, USA |
Rett/Angelman Syndrome Deletion / Duplication / Copy Number (Array, MLPA, Q-PCR, etc.) Panel method(s): ◦ Del/Dup (CNV) University of Chicago, Genetic Services Laboratory - Chicago, IL, USA |
TCF4 Gene Sequencing and Del/Dup method(s): ◦ Sequencing, Capillary (Sanger) ◦ Del/Dup (CNV) Center for Human Genetics and Laboratory Medicine Martinsried, Molecular Genetics - Martinsried, Germany |
epiSEEK® Comprehensive Sequence Analysis for Epilepsy and Seizure Disorders method(s): ◦ Sequencing, Next Gen Courtagen Life Sciences, Courtagen Diagnostics Laboratory - Woburn, MA, USA |
devSEEK Sequence Analysis for Neurodevelopment Disorders, Developmental Delay, Intellectual Disability, Autism Spectrum Disorders method(s): ◦ Sequencing, Next Gen Courtagen Life Sciences, Courtagen Diagnostics Laboratory - Woburn, MA, USA |
Childhood-Onset Epilepsy Panel method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen GeneDx - Gaithersburg, MD, USA |
Comprehensive Epilepsy Panel method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen GeneDx - Gaithersburg, MD, USA |
Infantile Epilepsy Panel method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen GeneDx - Gaithersburg, MD, USA |
Rett/Angelman Syndrome Panel method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen GeneDx - Gaithersburg, MD, USA |
Microcephaly Panel method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen GeneDx - Gaithersburg, MD, USA |
Corneal Dystrophy method(s): ◦ Sequencing, Next Gen Asper Biotech Ltd., Asper Biotech - Tartu, Estonia |
Pitt-Hopkins Syndrome, Sequencing TCF4 Gene method(s): ◦ Sequencing, Capillary (Sanger) Reference Laboratory Genetics - Hospitalet de Llobregat, Spain |
Pitt-Hopkins Syndrome, Deletions-Duplications (MLPA) TCF4 Gene method(s): ◦ Del/Dup (CNV) Reference Laboratory Genetics - Hospitalet de Llobregat, Spain |
Autism Spectrum Disorder Panel method(s): ◦ Sequencing, Next Gen Genomic Laboratory of the DNA Research Center LTD (Centrum Badań DNA sp z o.o.) - Poznań, Poland |
Inherited Disease 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 |
Pitt-Hopkins syndrome (sequence analysis of TCF4 gene) method(s): ◦ Sequencing, Next Gen CGC Genetics - Porto, Portugal |
NGS Lysosomal Storage Disease Panel method(s): ◦ Sequencing, Next Gen Greenwood Genetic Center Diagnostic Laboratories - Greenwood, SC, USA |
NGS Rett / Angelman Syndrome 2nd Tier Sequencing Panel method(s): ◦ Sequencing, Next Gen Greenwood Genetic Center Diagnostic Laboratories - Greenwood, SC, USA |
NGS Epilepsy / Seizures Panel method(s): ◦ Sequencing, Next Gen Greenwood Genetic Center Diagnostic Laboratories - Greenwood, SC, USA |
Brain Malformations / Neuronal Migration Disorders method(s): ◦ Sequencing, Next Gen MGZ München, Medizinisch Genetisches Zentrum München - München, Germany |
Angelman Syndrome and Differential Diagnoses method(s): ◦ Sequencing, Next Gen MGZ München, Medizinisch Genetisches Zentrum München - München, Germany |
Syndromic Disorders method(s): ◦ Sequencing, Next Gen MGZ München, Medizinisch Genetisches Zentrum München - München, Germany |
Epileptic Encephalopathy Panel method(s): ◦ Sequencing, Next Gen CeGaT GmbH - Tübingen, Germany |
epiSEEK Focus method(s): ◦ Sequencing, Next Gen Courtagen Life Sciences, Courtagen Diagnostics Laboratory - Woburn, MA, USA |
NewbornDx method(s): ◦ Sequencing, Next Gen Parabase Genomics - Boston, MA, USA |
Pitt-Hopkins syndrome (deletion/duplication analysis on TCF4 gene) method(s): ◦ Del/Dup (CNV) CGC Genetics - Porto, Portugal |
Single gene testing TCF4 method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Capillary (Sanger) CeGaT GmbH - Tübingen, Germany |
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 |
Rett Syndrome, Panel Massive Sequencing (NGS) 18 Genes method(s): ◦ Sequencing, Next Gen Reference Laboratory Genetics - Hospitalet de Llobregat, Spain |
Pitt-Hopkins Syndrome: TCF4 Gene Deletion/Duplication method(s): ◦ Del/Dup (CNV) CEN4GEN Institute for Genomics and Molecular Diagnostics - Edmonton, Canada |
Pitt-Hopkins Syndrome: TCF4 Gene Sequencing method(s): ◦ Sequencing, Capillary (Sanger) ◦ Sequencing, Next Gen CEN4GEN Institute for Genomics and Molecular Diagnostics - Edmonton, Canada |
Neurology: Sequencing Panel method(s): ◦ Sequencing, Capillary (Sanger) ◦ Sequencing, Next Gen CEN4GEN Institute for Genomics and Molecular Diagnostics - Edmonton, Canada |
Neurology: Deletion/Duplication Panel method(s): ◦ Del/Dup (CNV) CEN4GEN Institute for Genomics and Molecular Diagnostics - Edmonton, Canada |
Autism Spectrum Disorders: Gene Panel method(s): ◦ Sequencing, Capillary (Sanger) ◦ Sequencing, Next Gen CEN4GEN Institute for Genomics and Molecular Diagnostics - Edmonton, Canada |
Autism Spectrum 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 |
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 |
Antibody Deficiencies Panel method(s): ◦ Sequencing, Next Gen CeGaT GmbH - Tübingen, Germany |
AutismNext (Autism Spectrum Disorders) method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen Ambry Genetics Corp, Ambry Genetics - Aliso Viejo, CA, 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 |
Corneal Dystrophy, Panel Massive Sequencing (NGS) 20 Genes method(s): ◦ Sequencing, Next Gen Reference Laboratory Genetics - Hospitalet de Llobregat, Spain |
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 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 |
Lysosomal Disease (NextGen Sequencing Panel and Copy Number Analysis; 72 Genes) method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen MNG Laboratories (Medical Neurogenetics, LLC.) - Atlanta, GA, USA |
Autism NGS Panel method(s): ◦ Sequencing, Next Gen ◦ Sequencing, Capillary (Sanger) ◦ Del/Dup (CNV) Fulgent Diagnostics - Temple City, CA, USA |
Intellectual Disability NGS Panel method(s): ◦ Sequencing, Next Gen ◦ Sequencing, Capillary (Sanger) ◦ Del/Dup (CNV) Fulgent Diagnostics - Temple City, CA, USA |
Lysosomal Disorders NGS Panel method(s): ◦ Sequencing, Next Gen ◦ Sequencing, Capillary (Sanger) ◦ Del/Dup (CNV) Fulgent Diagnostics - Temple City, CA, USA |
Rett-Angelman NGS Panel method(s): ◦ Sequencing, Next Gen ◦ Sequencing, Capillary (Sanger) ◦ Del/Dup (CNV) Fulgent Diagnostics - Temple City, CA, USA |
TCF4 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 |
Idiopathic Generalized Epilepsy 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: 3-4 weeks price: $690.00
Pitt-Hopkins Syndrome via the TCF4 Gene method(s): ◦ Del/Dup (CNV) PreventionGenetics (Prevention Genetics), Clinical DNA Testing and DNA Banking - Marshfield, WI, USA |
TAT: 2-3 weeks price: $1,100.00
Pitt-Hopkins Syndrome via the TCF4 Gene method(s): ◦ Sequencing, Capillary (Sanger) PreventionGenetics (Prevention Genetics), Clinical DNA Testing and DNA Banking - Marshfield, WI, USA |
TAT: 10-12 weeks price: $1,290.00
ExoNIM Autism Spectrum Disorders method(s): ◦ Sequencing, Capillary (Sanger) ◦ Sequencing, Next Gen NIMGenetics Genomics & Medicine. (New Integrated Medical Genetics). - Madrid, Spain |
Epilepsy method(s): ◦ Sequencing, Next Gen Asper Biotech Ltd., Asper Biotech - Tartu, Estonia |
Autism (Autismus) method(s): ◦ Sequencing, Next Gen Praxis fuer Humangenetik Wien - Vienna, Austria |
Pitt-Hopkins syndrome (Pitt-Hopkins Syndrom) method(s): ◦ Sequencing, Next Gen Praxis fuer Humangenetik Wien - Vienna, Austria |
Pitt-Hopkins syndrome method(s): ◦ Sequencing, Capillary (Sanger) Centogene AG, Rare Disease Company - Rostock, Germany |
CustomNext - Epilepsy method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen Ambry Genetics Corp, Ambry Genetics - Aliso Viejo, CA, USA |
Autism Spectrum Disorders (Expanded Panel), Panel Massive Sequencing (NGS) 100 Genes method(s): ◦ Sequencing, Next Gen Reference Laboratory Genetics - Hospitalet de Llobregat, Spain |
Microcephaly Spotlight Panel method(s): ◦ Sequencing, Next Gen Courtagen Life Sciences, Courtagen Diagnostics Laboratory - Woburn, MA, USA |
Brain malformations method(s): ◦ Sequencing, Next Gen Asper Biotech Ltd., Asper Biotech - Tartu, Estonia |
TAT: 3-5 weeks price: $1,990.00
Rett Syndrome, Angelman Syndrome and Variant Syndromes Sequencing Panel method(s): ◦ Sequencing, Next Gen PreventionGenetics (Prevention Genetics), Clinical DNA Testing and DNA Banking - Marshfield, WI, USA |
TAT: 3-4 weeks price: $1,290.00
Rett Syndrome, Angelman Syndrome and Variant Syndromes Deletion/Duplication Panel method(s): ◦ Del/Dup (CNV) PreventionGenetics (Prevention Genetics), Clinical DNA Testing and DNA Banking - Marshfield, WI, USA |
Comprehensive epilepsy panel method(s): ◦ Repeat Expansion / Contraction ◦ Sequencing, Next Gen Centogene AG, Rare Disease Company - Rostock, Germany |
Epileptic encephalopathy panel method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen Centogene AG, Rare Disease Company - Rostock, Germany |
TCF4 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 Rett and Angelman Syndromes and Related Disorders Panel method(s): ◦ Sequencing, Next Gen ◦ Del/Dup (CNV) Invitae - San Francisco, CA, USA |
Microcephaly (NextGen Sequencing Panel and Copy Number Analysis; 241 Genes) method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen MNG Laboratories (Medical Neurogenetics, LLC.) - Atlanta, GA, USA |
Syndromic autism panel method(s): ◦ Repeat Expansion / Contraction ◦ 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 |
Comprehensive Metabolism Panel method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen Blueprint Genetics, Helsinki - Helsinki, Finland |
Corneal Dystrophy 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 |
Lysosomal Disorders and Mucopolysaccharidosis 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 |
Comprehensive Metabolism Panel method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen Blueprint Genetics, San Francisco - San Francisco, CA, USA |
Corneal Dystrophy 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 |
Lysosomal Disorders and Mucopolysaccharidosis Panel method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen Blueprint Genetics, San Francisco - San Francisco, CA, USA |