AutismFirst (Autism Spectrum Disorders) method(s): ◦ 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 |
Sotos Syndrome Test method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Capillary (Sanger) Greenwood Genetic Center Diagnostic Laboratories - Greenwood, SC, USA |
Sotos Syndrome Test method(s): ◦ Sequencing, Capillary (Sanger) South West Thames Genetics Laboratory, St George's University of London - London, United Kingdom |
Sotos Syndrome Test method(s): ◦ Del/Dup (CNV) South West Thames Genetics Laboratory, St George's University of London - London, United Kingdom |
Autism Spectrum Disorders Panel Test method(s): ◦ Sequencing, Next Gen ApolloGen, Inc. - Irvine, CA, USA |
SOTOS syndrome test method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Capillary (Sanger) Medical Genetics Center, Asan Medical Center - Seoul, Korea, Republic of |
Sotos Syndrome method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Capillary (Sanger) Institut fur Laboratoriumsmedizin Berlin (IFLb) - Berlin, Germany |
FISH-Sotos Syndrome method(s): ◦ FISH-Metaphase Baylor Miraca Genetics Laboratories - Houston, TX, USA |
Beckwith Wiedemann 11p15 Hypomethylation Analysis method(s): ◦ Methylation Analysis Biyolojik Bilimler Arastirma Gelistirme ve Uretim AS, Duzen Laboratuvarlar Grubu - Istanbul, Turkey |
Sotos Syndrome (FISH) method(s): ◦ FISH-Metaphase Biyolojik Bilimler Arastirma Gelistirme ve Uretim AS, Duzen Laboratuvarlar Grubu - Istanbul, Turkey |
Sotos Syndrome method(s): ◦ Sequencing, Capillary (Sanger) ◦ Del/Dup (CNV) MVZ Dortmund Dr. Eberhard and Partner - Dortmund, Germany |
Sotos Syndrome: NSD1 Gene Deletion/Duplication 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 |
Macrocephaly: Sequencing Panel method(s): Emory University School of Medicine, Emory Molecular Genetics Laboratory - Atlanta, GA, USA |
Sotos Syndrome: NSD1 Gene Sequencing method(s): Emory University School of Medicine, Emory Molecular Genetics Laboratory - Atlanta, GA, USA |
Sanger sequencing of the NSD1 gene method(s): ◦ Mutation Scanning of Entire Coding Region ◦ Sequencing, Capillary (Sanger) Sistemas Genomicos, Medical Genetics Unit - Paterna, Spain |
Detection of large deletions and/or duplications in NSD1 gene by MLPA method(s): ◦ Del/Dup (CNV) Sistemas Genomicos, Medical Genetics Unit - Paterna, Spain |
NGS of genes: BLM, GPC3, NBN, NSD1, RAD50, WT1. method(s): ◦ Mutation Scanning of Entire Coding Region ◦ Sequencing, Next Gen Sistemas Genomicos, Medical Genetics Unit - Paterna, Spain |
NSD1 sequencing method(s): ◦ Sequencing, Next Gen University of Chicago, Genetic Services Laboratory - Chicago, IL, USA |
NSD1 deletion/duplication method(s): ◦ Del/Dup (CNV) University of Chicago, Genetic Services Laboratory - Chicago, IL, USA |
NSD1 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 |
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 |
NSD1 Del/Dup method(s): ◦ Del/Dup (CNV) GeneDx - Gaithersburg, MD, USA |
NSD1 Gene Sequencing and Del/Dup method(s): ◦ Sequencing, Capillary (Sanger) ◦ Del/Dup (CNV) GeneDx - Gaithersburg, MD, USA |
Syndromic Macrocephaly/Overgrowth Panel method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen GeneDx - Gaithersburg, MD, USA |
Sotos Syndrome Type 1 , Deletion (MLPA) NSD1 Gene method(s): ◦ Del/Dup (CNV) Reference Laboratory Genetics - Hospitalet de Llobregat, Spain |
Sotos Syndrome Type 1, Sequencing NSD1 Gene method(s): ◦ Sequencing, Capillary (Sanger) 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 |
Hereditary Cancer Panel 170 PLUS 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 |
Hereditary Cancer Panel 'For Him' 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 |
Sotos syndrome (deletion/duplication analysis on NSD1 gene) method(s): ◦ Del/Dup (CNV) ◦ Genotyping (Microarray, Beads, etc.) CGC Genetics - Porto, Portugal |
Weaver syndrome (sequence analysis of NSD1 gene) method(s): ◦ Sequencing, Next Gen CGC Genetics - Porto, Portugal |
Weaver syndrome (deletion/duplication analysis of NSD1 gene) method(s): ◦ Del/Dup (CNV) ◦ Genotyping (Microarray, Beads, etc.) CGC Genetics - Porto, Portugal |
Sotos syndrome (sequence analysis of NSD1 gene) method(s): ◦ Sequencing, Next Gen CGC Genetics - Porto, Portugal |
Oncology Genetic Panel , Panel Massive Sequencing (NGS) 94 Genes method(s): ◦ Sequencing, Next Gen Reference Laboratory Genetics - Hospitalet de Llobregat, Spain |
Macrocephaly Sequencing Panel method(s): ◦ Sequencing, Next Gen University of Chicago, Genetic Services Laboratory - Chicago, IL, USA |
Sotos Syndrome Test method(s): ◦ Sequencing, Capillary (Sanger) Burc Molecular Genetics Laboratory - Istanbul, Turkey |
Oncology, Panel method(s): ◦ Sequencing, Next Gen GENETAQ, Molecular Genetics Centre - Malaga, Spain |
Macrocephaly Deletion/Duplication panel method(s): ◦ Del/Dup (CNV) University of Chicago, Genetic Services Laboratory - Chicago, IL, USA |
Hereditary Cancer Syndromes, Comprehensive Diagnostics 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 |
Macrocephaly 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 |
Sotos Syndrome Test method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Capillary (Sanger) ◦ Sequencing, Next Gen MGZ München, Medizinisch Genetisches Zentrum München - München, Germany |
Macrocephaly Panel method(s): ◦ Sequencing, Next Gen CeGaT GmbH - Tübingen, Germany |
Selected Genetic Syndromes with Seizures Panel method(s): ◦ Sequencing, Next Gen CeGaT GmbH - Tübingen, Germany |
NewbornDx method(s): ◦ Sequencing, Next Gen Parabase Genomics - Boston, MA, USA |
Overgrowth and Intellectual Disability NGS Panel method(s): ◦ Sequencing, Next Gen DDC Clinic Molecular Diagnostics Laboratory - Middlefield, OH, USA |
Hematopoietic Disorders Gene Set method(s): ◦ Sequencing, Next Gen Genomics and Pathology Services, Washington University - St. Louis, MO, USA |
Somatic Tumor Panel method(s): ◦ Sequencing, Next Gen CeGaT GmbH - Tübingen, Germany |
Sotos Syndrome method(s): ◦ FISH-Metaphase Cincinnati Children's Hospital Medical Center, Cytogenetics Laboratory - Cincinnati, OH, USA |
Macrocephaly (NGS panel for 16 genes) method(s): ◦ Sequencing, Next Gen CGC Genetics - Porto, Portugal |
Single gene testing NSD1 method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Capillary (Sanger) CeGaT GmbH - Tübingen, Germany |
Sotos Syndrome: NSD1 Gene Deletion/Duplication method(s): ◦ Del/Dup (CNV) CEN4GEN Institute for Genomics and Molecular Diagnostics - Edmonton, Canada |
Sotos Syndrome: NSD1 Gene Sequencing method(s): ◦ Sequencing, Capillary (Sanger) ◦ Sequencing, Next Gen CEN4GEN Institute for Genomics and Molecular Diagnostics - Edmonton, Canada |
Macrocephaly and Overgrowth Syndromes: Sequencing and Beckwith-Wiedemann Syndrome Methylation Panel method(s): ◦ Methylation Analysis ◦ Sequencing, Capillary (Sanger) ◦ Sequencing, Next Gen CEN4GEN Institute for Genomics and Molecular Diagnostics - Edmonton, Canada |
Macrocephaly and Overgrowth Syndromes: 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 |
OncoRisk Plus (NGS panel for 89 genes) method(s): ◦ Sequencing, Next Gen CGC Genetics - Porto, Portugal |
TAT: 2-3 weeks price: $990.00
Simpson-Golabi-Behmel, Sotos and Weaver syndrome NGS panel method(s): ◦ Del/Dup (CNV) Connective Tissue Gene Tests - Allentown, PA, USA |
TAT: 2-4 weeks price: $1,250.00
Simpson-Golabi-Behmel, Sotos and Weaver syndrome NGS panel method(s): ◦ Sequencing, Next Gen Connective Tissue Gene Tests - Allentown, PA, USA |
TAT: 2-4 weeks price: $2,130.00
Simpson-Golabi-Behmel, Sotos and Weaver syndrome NGS panel method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen Connective Tissue Gene Tests - Allentown, PA, USA |
TAT: 2-3 weeks price: $680.00
Sotos syndrome 1 (SOTOS1) method(s): ◦ Del/Dup (CNV) Connective Tissue Gene Tests - Allentown, PA, USA |
TAT: 2-3 weeks price: $990.00
Sotos syndrome 1 (SOTOS1) method(s): ◦ Sequencing, Next Gen Connective Tissue Gene Tests - Allentown, PA, USA |
TAT: 2-3 weeks price: $1,570.00
Sotos syndrome 1 (SOTOS1) method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen Connective Tissue Gene Tests - Allentown, PA, USA |
Renal cancer method(s): ◦ Sequencing, Next Gen Genomic Laboratory of the DNA Research Center LTD (Centrum Badań DNA sp z o.o.) - Poznań, Poland |
Epilepsy Exome Panel method(s): ◦ Sequencing, Next Gen University of Chicago, Genetic Services Laboratory - Chicago, IL, USA |
NGS Overgrowth/Macrocephaly Panel method(s): ◦ Sequencing, Next Gen Greenwood Genetic Center Diagnostic Laboratories - Greenwood, SC, USA |
NSD1 Gene Sequencing method(s): ◦ Sequencing, Next Gen DDC Clinic Molecular Diagnostics Laboratory - Middlefield, OH, USA |
Cancer Predisposition method(s): ◦ Sequencing, Next Gen Asper Biotech Ltd., Asper Biotech - Tartu, Estonia |
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 |
Sotos Syndrome Test method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen Ambry Genetics Corp, Ambry Genetics - Aliso Viejo, CA, 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 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 |
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 |
Comprehensive Metabolic Disease Hepatomegaly (NextGen Sequencing Panel and Copy Number Analysis; 79 genes + mtDNA) method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen MNG Laboratories (Medical Neurogenetics, LLC.) - Atlanta, GA, USA |
Macrocephaly, Panel Massive Sequencing (NGS) 16 Genes method(s): ◦ Sequencing, Next Gen Reference Laboratory Genetics - Hospitalet de Llobregat, Spain |
Autism NGS Panel method(s): ◦ Sequencing, Next Gen ◦ Sequencing, Capillary (Sanger) ◦ Del/Dup (CNV) Fulgent Diagnostics - Temple City, CA, USA |
NSD1 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: 1-2 weeks price: $560.00
KaryoNIM 180K Autism method(s): ◦ Microarray (CGH-Oligo, SNP, BAC) NIMGenetics Genomics & Medicine. (New Integrated Medical Genetics). - Madrid, Spain |
TAT: 3-4 weeks price: $690.00
Sotos Syndrome via the NSD1 Gene method(s): ◦ Del/Dup (CNV) PreventionGenetics (Prevention Genetics), Clinical DNA Testing and DNA Banking - Marshfield, WI, USA |
TAT: 3-5 weeks price: $990.00
Sotos Syndrome via the NSD1 Gene method(s): ◦ Sequencing, Next Gen 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 |
Beckwith-Wiedemann Syndrome, Panel Massive Sequencing (NGS) 4 Genes method(s): ◦ Sequencing, Next Gen Reference Laboratory Genetics - Hospitalet de Llobregat, Spain |
Autism (Autismus) method(s): ◦ Sequencing, Next Gen Praxis fuer Humangenetik Wien - Vienna, Austria |
Beckwith-Wiedemann syndrome (Beckwith-Wiedemann-Syndrom) method(s): ◦ Sequencing, Next Gen Praxis fuer Humangenetik Wien - Vienna, Austria |
Beckwith-Wiedemann syndrome method(s): ◦ Sequencing, Capillary (Sanger) Centogene AG, Rare Disease Company - Rostock, Germany |
Sotos syndrome (Sotos Syndrom) method(s): ◦ Sequencing, Capillary (Sanger) Praxis fuer Humangenetik Wien - Vienna, Austria |
Acute Myeloid Leukemia (Susceptibility to), Panel Massive Sequencing (NGS) 21 Genes method(s): ◦ Sequencing, Next Gen Reference Laboratory Genetics - Hospitalet de Llobregat, Spain |
Congenital Heart Disease NGS Panel method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Capillary (Sanger) ◦ Sequencing, Next Gen Fulgent Diagnostics - Temple City, CA, USA |
PreSeek Non-invasive Prenatal Gene Sequencing Screen method(s): ◦ Sequencing, Next Gen Baylor Miraca Genetics Laboratories - Houston, TX, USA |
Sotos syndrome type 1 method(s): ◦ Sequencing, Capillary (Sanger) ◦ Del/Dup (CNV) Centogene AG, Rare Disease Company - Rostock, Germany |
Autism Spectrum Disorders (Expanded Panel), Panel Massive Sequencing (NGS) 100 Genes method(s): ◦ Sequencing, Next Gen Reference Laboratory Genetics - Hospitalet de Llobregat, Spain |
Head and Neck Tumors Gene Set method(s): ◦ Sequencing, Next Gen Genomics and Pathology Services, Washington University - St. Louis, MO, USA |
CentoICU Platinum method(s): ◦ Sequencing, Next Gen Centogene AG, Rare Disease Company - Rostock, Germany |
NSD1 mutation analysis method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen University of Chicago, Genetic Services Laboratory - Chicago, IL, USA |
Macrocephaly and Overgrowth Syndromes: Sequencing Panel method(s): ◦ Sequencing, Capillary (Sanger) ◦ Sequencing, Next Gen CEN4GEN Institute for Genomics and Molecular Diagnostics - Edmonton, Canada |
TAT: 1-3 weeks price: $1,500.00
Invitae Overgrowth and Macrocephaly Syndromes Panel method(s): ◦ Sequencing, Next Gen ◦ Del/Dup (CNV) Invitae - San Francisco, CA, USA |
TAT: 1-3 weeks price: $1,500.00
Invitae Congenital Heart Defects and Heterotaxy Panel method(s): ◦ Sequencing, Next Gen ◦ Del/Dup (CNV) Invitae - San Francisco, CA, USA |
TAT: 1-3 weeks price: $1,500.00
Invitae Congenital Heart Disease Panel method(s): ◦ Sequencing, Next Gen ◦ Del/Dup (CNV) Invitae - San Francisco, CA, USA |
TAT: 1-3 weeks price: $1,500.00
Invitae Sotos Syndrome Test method(s): ◦ Sequencing, Next Gen ◦ Del/Dup (CNV) Invitae - San Francisco, CA, USA |
Syndromic autism panel method(s): ◦ Repeat Expansion / Contraction ◦ Sequencing, Next Gen Centogene AG, Rare Disease Company - Rostock, Germany |
Autism Spectrum Disorders Panel method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen Blueprint Genetics, Helsinki - Helsinki, Finland |
Comprehensive Hereditary Cancer 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 |
Hereditary Pediatric Cancer Panel method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen Blueprint Genetics, Helsinki - Helsinki, Finland |
Macrocephaly / Overgrowth Syndrome Panel method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen Blueprint Genetics, Helsinki - Helsinki, Finland |
Comprehensive Skeletal Dysplasias and Disorders Panel method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen Blueprint Genetics, Helsinki - Helsinki, Finland |
Autism Spectrum Disorders Panel method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen Blueprint Genetics, San Francisco - San Francisco, CA, USA |
Comprehensive Hereditary Cancer 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 |
Hereditary Pediatric Cancer Panel method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen Blueprint Genetics, San Francisco - San Francisco, CA, USA |
Macrocephaly / Overgrowth Syndrome Panel method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen Blueprint Genetics, San Francisco - San Francisco, CA, USA |
Comprehensive Skeletal Dysplasias and Disorders Panel method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen Blueprint Genetics, San Francisco - San Francisco, CA, USA |