TAT: 4-8 weeks price: $1,545.00
Analysis NIPBL gene (Cornelia de Lange Syndrome 1) method(s): ◦ Sequencing, Capillary (Sanger) Academic Medical Centre, University of Amsterdam, DNA Diagnostics Laboratory - Amsterdam, Netherlands |
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 |
Autism Spectrum Disorders Panel Test method(s): ◦ Sequencing, Next Gen ApolloGen, Inc. - Irvine, CA, USA |
NIPBL-related Cornelia de Lange syndrome test method(s): ◦ Sequencing, Capillary (Sanger) Medical Genetics Center, Asan Medical Center - Seoul, Korea, Republic of |
Cornelia de Lange Syndrome: NIPBL Gene Deletion/Duplication method(s): Emory University School of Medicine, Emory Molecular Genetics Laboratory - Atlanta, GA, USA |
Proportionate Short Stature/Small for Gestational Age: Russell-Silver Panel, UPD14 Analysis, Sequencing, and Deletion/Duplication Panel method(s): Emory University School of Medicine, Emory Molecular Genetics Laboratory - Atlanta, GA, USA |
Proportionate Short Stature/Small for Gestational Age: 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 |
Skeletal Dysplasia: Sequencing Panel method(s): Emory University School of Medicine, Emory Molecular Genetics Laboratory - Atlanta, GA, USA |
Limb Malformation: Sequencing Panel method(s): Emory University School of Medicine, Emory Molecular Genetics Laboratory - Atlanta, GA, USA |
Cornelia de Lange Syndrome: NIPBL Gene Sequencing method(s): Emory University School of Medicine, Emory Molecular Genetics Laboratory - Atlanta, GA, USA |
Proportionate Short Stature/Small for Gestational Age: CytoScan SNP Array, Russell-Silver Panel, UPD14 Analysis, Sequencing and Deletion/Duplication Panel method(s): Emory University School of Medicine, Emory Molecular Genetics Laboratory - Atlanta, GA, USA |
Proportionate Short Stature/Small for Gestational Age: CytoScan SNP Array, Sequencing, and Deletion/Duplication Panel method(s): Emory University School of Medicine, Emory Molecular Genetics Laboratory - Atlanta, GA, USA |
Sanger sequencing of the NIPBL gene method(s): ◦ Mutation Scanning of Entire Coding Region ◦ Sequencing, Capillary (Sanger) Sistemas Genomicos, Medical Genetics Unit - Paterna, Spain |
Detection of deletions and/or duplications in NIPBL gene by MLPA. method(s): ◦ Del/Dup (CNV) Sistemas Genomicos, Medical Genetics Unit - Paterna, Spain |
NIPBL sequencing method(s): ◦ Sequencing, Next Gen University of Chicago, Genetic Services Laboratory - Chicago, IL, USA |
NIPBL deletion/duplication method(s): ◦ Del/Dup (CNV) 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 |
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 |
NIPBL and SMC1A Sequencing and Del/Dup Panel method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Capillary (Sanger) GeneDx - Gaithersburg, MD, USA |
NIPBL Del/Dup method(s): ◦ Del/Dup (CNV) GeneDx - Gaithersburg, MD, USA |
NIPBL Remaining Exons Sequencing method(s): ◦ Sequencing, Capillary (Sanger) GeneDx - Gaithersburg, MD, USA |
NIPBL Select Exons Sequencing method(s): ◦ Sequencing, Capillary (Sanger) GeneDx - Gaithersburg, MD, USA |
Microcephaly Panel method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen GeneDx - Gaithersburg, MD, USA |
Cornelia de Lange Syndrome Type 1 , Sequencing NIPBL Gene method(s): ◦ Sequencing, Capillary (Sanger) Reference Laboratory Genetics - Hospitalet de Llobregat, Spain |
Cornelia de Lange Syndrome Type 1 , Deletions-Duplications (MLPA) NIPBL 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 |
Cornelia de Lange Syndrome, Panel Massive Sequencing (NGS) 5 Genes method(s): ◦ Sequencing, Next Gen Reference Laboratory Genetics - Hospitalet de Llobregat, Spain |
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 |
Cornelia de Lange syndrome (deletion/duplication analysis of NIPBL gene) method(s): ◦ Del/Dup (CNV) ◦ Genotyping (Microarray, Beads, etc.) CGC Genetics - Porto, Portugal |
Cornelia de Lange Syndrome method(s): ◦ Sequencing, Next Gen GENETAQ, Molecular Genetics Centre - Malaga, Spain |
Brain Malformations / Neuronal Migration Disorders method(s): ◦ Sequencing, Next Gen MGZ München, Medizinisch Genetisches Zentrum München - München, Germany |
Cohesinopathies (Cornelia de Lange Syndrome) 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 |
NewbornDx method(s): ◦ Sequencing, Next Gen Parabase Genomics - Boston, MA, USA |
Cornelia de Lange syndrome (NGS panel for 5 genes) method(s): ◦ Sequencing, Next Gen CGC Genetics - Porto, Portugal |
Cornelia de Lange syndrome (sequence analysis of NIPBL gene) method(s): ◦ Sequencing, Next Gen CGC Genetics - Porto, Portugal |
Single gene testing NIPBL method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Capillary (Sanger) CeGaT GmbH - Tübingen, Germany |
Cornelia de Lange NGS Panel method(s): ◦ Sequencing, Next Gen DDC Clinic Molecular Diagnostics Laboratory - Middlefield, OH, USA |
Cornelia de Lange Syndrome Test method(s): ◦ Sequencing, Capillary (Sanger) ◦ Sequencing, Next Gen Greenwood Genetic Center Diagnostic Laboratories - Greenwood, SC, USA |
Limb Malformation: Sequencing Panel method(s): ◦ Sequencing, Capillary (Sanger) ◦ Sequencing, Next Gen CEN4GEN Institute for Genomics and Molecular Diagnostics - Edmonton, Canada |
Limb Malformation: Deletion/Duplication Panel method(s): ◦ Del/Dup (CNV) CEN4GEN Institute for Genomics and Molecular Diagnostics - Edmonton, Canada |
Proportionate Short Stature/Small for Gestational Age: SNP Array, Russell-Silver Panel, UPD14 Analysis, and Sequencing Panel method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Capillary (Sanger) ◦ Sequencing, Next Gen ◦ Uniparental Disomy CEN4GEN Institute for Genomics and Molecular Diagnostics - Edmonton, Canada |
Proportionate Short Stature/Small for Gestational Age: Russell-Silver Panel, UPD14 Analysis, and Sequencing Panel method(s): ◦ Sequencing, Capillary (Sanger) ◦ Sequencing, Next Gen ◦ Uniparental Disomy CEN4GEN Institute for Genomics and Molecular Diagnostics - Edmonton, Canada |
Proportionate Short Stature/Small for Gestational Age: Sequencing Panel method(s): ◦ Sequencing, Capillary (Sanger) ◦ Sequencing, Next Gen CEN4GEN Institute for Genomics and Molecular Diagnostics - Edmonton, Canada |
Skeletal Dysplasia: Sequencing Panel method(s): ◦ Sequencing, Capillary (Sanger) ◦ Sequencing, Next Gen CEN4GEN Institute for Genomics and Molecular Diagnostics - Edmonton, Canada |
Skeletal Dysplasia: 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 |
Cornelia de Lange Syndrome: NIPBL Gene Deletion/Duplication method(s): ◦ Del/Dup (CNV) CEN4GEN Institute for Genomics and Molecular Diagnostics - Edmonton, Canada |
Cornelia de Lange Syndrome: NIPBL Gene Sequencing method(s): ◦ Sequencing, Capillary (Sanger) ◦ Sequencing, Next Gen CEN4GEN Institute for Genomics and Molecular Diagnostics - Edmonton, Canada |
Cornelia de Lange Syndrome: Sequencing Panel method(s): ◦ Sequencing, Capillary (Sanger) ◦ Sequencing, Next Gen CEN4GEN Institute for Genomics and Molecular Diagnostics - Edmonton, Canada |
Cornelia de Lange Syndrome: Deletion/Duplication Panel method(s): ◦ Del/Dup (CNV) CEN4GEN Institute for Genomics and Molecular Diagnostics - Edmonton, Canada |
Cornelia de Lange Syndrome method(s): ◦ Sequencing, Next Gen Asper Biotech Ltd., Asper Biotech - Tartu, Estonia |
Cornelia de Lange Syndrome PLUS Sequencing Panel method(s): ◦ Sequencing, Next Gen University of Chicago, Genetic Services Laboratory - Chicago, IL, USA |
Epilepsy Exome Panel method(s): ◦ Sequencing, Next Gen University of Chicago, Genetic Services Laboratory - Chicago, IL, USA |
NIPBL Gene Sequencing method(s): ◦ Sequencing, Next Gen DDC Clinic Molecular Diagnostics Laboratory - Middlefield, OH, USA |
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 |
CdLSNext -Cornelia de Lange syndrome Panel 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 |
Autism NGS Panel method(s): ◦ Sequencing, Next Gen ◦ Sequencing, Capillary (Sanger) ◦ Del/Dup (CNV) Fulgent Diagnostics - Temple City, CA, USA |
Cornelia De Lange Syndrome 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 |
NIPBL method(s): ◦ Sequencing, Next Gen ◦ Sequencing, Capillary (Sanger) ◦ Del/Dup (CNV) Fulgent Diagnostics - Temple City, CA, USA |
Short Stature NGS Panel method(s): ◦ Sequencing, Next Gen ◦ Sequencing, Capillary (Sanger) ◦ Del/Dup (CNV) Fulgent Diagnostics - Temple City, CA, USA |
Skeletal Dysplasias 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: 2-4 weeks price: $1,270.00
Cornelia de Lange syndrome NGS panel method(s): ◦ Sequencing, Next Gen Connective Tissue Gene Tests - Allentown, PA, USA |
TAT: 3-4 weeks price: $990.00
Cornelia de Lange syndrome NGS panel method(s): ◦ Del/Dup (CNV) Connective Tissue Gene Tests - Allentown, PA, USA |
TAT: 2-4 weeks price: $2,110.00
Cornelia de Lange syndrome NGS Comprehensive panel method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen Connective Tissue Gene Tests - Allentown, PA, USA |
TAT: 2-3 weeks price: $990.00
Cornelia de Lange syndrome 1 method(s): ◦ Sequencing, Next Gen Connective Tissue Gene Tests - Allentown, PA, USA |
TAT: 2-3 weeks price: $680.00
Cornelia de Lange syndrome 1 method(s): ◦ Del/Dup (CNV) Connective Tissue Gene Tests - Allentown, PA, USA |
TAT: 2-3 weeks price: $1,570.00
Cornelia de Lange syndrome 1 method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen Connective Tissue Gene Tests - Allentown, PA, 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
Cornelia de Lange Syndrome via the NIPBL Gene method(s): ◦ Del/Dup (CNV) PreventionGenetics (Prevention Genetics), Clinical DNA Testing and DNA Banking - Marshfield, WI, USA |
TAT: 3-4 weeks price: $1,290.00
Congenital Abnormalities of the Kidney and Urinary Tract (CAKUT) Deletion/Duplication Panel method(s): ◦ Del/Dup (CNV) PreventionGenetics (Prevention Genetics), Clinical DNA Testing and DNA Banking - Marshfield, WI, USA |
TAT: 3-4 weeks price: $840.00
Cornelia de Lange Syndrome Deletion/Duplication Panel method(s): ◦ Del/Dup (CNV) PreventionGenetics (Prevention Genetics), Clinical DNA Testing and DNA Banking - Marshfield, WI, USA |
TAT: 3-4 weeks price: $840.00
Facial Dysostosis Related Disorders 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: $990.00
Cornelia de Lange Syndrome via the NIPBL Gene method(s): ◦ Sequencing, Next Gen PreventionGenetics (Prevention Genetics), Clinical DNA Testing and DNA Banking - Marshfield, WI, USA |
TAT: 3-5 weeks price: $2,690.00
Congenital Abnormalities of the Kidney and Urinary Tract (CAKUT) Sequencing Panel method(s): ◦ Sequencing, Next Gen PreventionGenetics (Prevention Genetics), Clinical DNA Testing and DNA Banking - Marshfield, WI, USA |
TAT: 3-5 weeks price: $1,790.00
Cornelia de Lange Syndrome Sequencing Panel method(s): ◦ Sequencing, Next Gen PreventionGenetics (Prevention Genetics), Clinical DNA Testing and DNA Banking - Marshfield, WI, USA |
TAT: 3-5 weeks price: $1,690.00
Facial Dysostosis Related Disorders Sequencing Panel 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 |
Cornelia-de-Lange syndrome (Cornelia de Lange Syndrom) method(s): ◦ Sequencing, Next Gen Praxis fuer Humangenetik Wien - Vienna, Austria |
Autism (Autismus) method(s): ◦ Sequencing, Next Gen Praxis fuer Humangenetik Wien - Vienna, Austria |
Cornelia de Lange syndrome (Cornelia de Lange Syndrom) method(s): ◦ Sequencing, Next Gen Praxis fuer Humangenetik Wien - Vienna, Austria |
Proportional dwarfism (Proportionaler Minderwuchs) method(s): ◦ Sequencing, Next Gen Praxis fuer Humangenetik Wien - Vienna, Austria |
PreSeek Non-invasive Prenatal Gene Sequencing Screen method(s): ◦ Sequencing, Next Gen Baylor Miraca Genetics Laboratories - Houston, TX, USA |
Cornelia de Lange 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 |
Microcephaly Spotlight Panel method(s): ◦ Sequencing, Next Gen Courtagen Life Sciences, Courtagen Diagnostics Laboratory - Woburn, MA, USA |
Short Stature 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 |
Cornelia de Lange syndrome panel method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen Centogene AG, Rare Disease Company - Rostock, Germany |
Cornelia de Lange Syndrome Panel method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen University of Chicago, Genetic Services Laboratory - Chicago, IL, USA |
TAT: 1-3 weeks price: $1,500.00
Invitae Cornelia de Lange Syndrome 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 Short Stature Syndrome 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 |
Facial Dysostosis and Related Disorders 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 |
Comprehensive Short Stature Syndrome 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 |
Facial Dysostosis and Related Disorders 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 |