NGS X-Linked Intellectual Disability (XLID) Panel (114 genes) method(s): ◦ Sequencing, Next Gen Greenwood Genetic Center Diagnostic Laboratories - Greenwood, SC, USA |
FISH-Microphthalmia with Linear Skin Defects method(s): ◦ FISH-Metaphase Baylor Miraca Genetics Laboratories - Houston, TX, USA |
Microphthalmia with Linear Skin Defects: HCCS Gene Deletion/Duplication method(s): Emory University School of Medicine, Emory Molecular Genetics Laboratory - Atlanta, GA, USA |
Eye Disorders: Comprehensive Sequencing and Deletion/Duplication Panel method(s): Emory University School of Medicine, Emory Molecular Genetics Laboratory - Atlanta, GA, USA |
Anophthalmia/Microphthalmia/Anterior Segment Dysgenesis/Anomaly: Sequencing Panel method(s): Emory University School of Medicine, Emory Molecular Genetics Laboratory - Atlanta, GA, USA |
X-linked Intellectual Disability: Gene Sequencing and Deletion/Duplication Panel method(s): Emory University School of Medicine, Emory Molecular Genetics Laboratory - Atlanta, GA, USA |
Microphthalmia with Linear Skin Defects: HCCS Gene Sequencing method(s): Emory University School of Medicine, Emory Molecular Genetics Laboratory - Atlanta, GA, 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 |
Eye Diseases Panel method(s): ◦ Sequencing, Next Gen Genomic Laboratory of the DNA Research Center LTD (Centrum Badań DNA sp z o.o.) - Poznań, Poland |
Mitochondrial Disorders Panel method(s): ◦ Sequencing, Next Gen Genomic Laboratory of the DNA Research Center LTD (Centrum Badań DNA sp z o.o.) - Poznań, Poland |
Microphthalmia-Anophthalmia-Coloboma Complex (MAC) method(s): ◦ Sequencing, Next Gen MGZ München, Medizinisch Genetisches Zentrum München - München, Germany |
X-Linked Mental Retardation 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 |
Microphthalmia Panel method(s): ◦ Sequencing, Next Gen CeGaT GmbH - Tübingen, Germany |
Microphthalmia syndromic 7 (sequence analysis of HCCS gene) method(s): ◦ Sequencing, Capillary (Sanger) CGC Genetics - Porto, Portugal |
Eye Disorders: Comprehensive Sequencing Panel method(s): ◦ Sequencing, Capillary (Sanger) ◦ Sequencing, Next Gen CEN4GEN Institute for Genomics and Molecular Diagnostics - Edmonton, Canada |
Eye Disorders: Deletion/Duplication Panel method(s): ◦ Del/Dup (CNV) CEN4GEN Institute for Genomics and Molecular Diagnostics - Edmonton, Canada |
X-linked Intellectual Disability: Sequencing Panel method(s): ◦ Sequencing, Capillary (Sanger) ◦ Sequencing, Next Gen CEN4GEN Institute for Genomics and Molecular Diagnostics - Edmonton, Canada |
X-linked Intellectual Disability: Deletion/Duplication Panel method(s): ◦ Del/Dup (CNV) CEN4GEN Institute for Genomics and Molecular Diagnostics - Edmonton, Canada |
Microphthalmia with Linear Skin Defects: HCCS Gene Deletion/Duplication method(s): ◦ Del/Dup (CNV) CEN4GEN Institute for Genomics and Molecular Diagnostics - Edmonton, Canada |
Microphthalmia with Linear Skin Defects: HCCS Gene Sequencing method(s): ◦ Sequencing, Capillary (Sanger) ◦ Sequencing, Next Gen CEN4GEN Institute for Genomics and Molecular Diagnostics - Edmonton, Canada |
Anophthalmia/Microphthalmia/Anterior Segment Dysgenesis/Anomaly: Sequencing Panel method(s): ◦ Sequencing, Capillary (Sanger) ◦ Sequencing, Next Gen CEN4GEN Institute for Genomics and Molecular Diagnostics - Edmonton, Canada |
Anophthalmia/Microphthalmia/Anterior Segment Dysgenesis/Anomaly: Deletion/Duplication Panel method(s): ◦ Del/Dup (CNV) CEN4GEN Institute for Genomics and Molecular Diagnostics - Edmonton, Canada |
Microphthalmia (NGS panel for 26 genes) method(s): ◦ Sequencing, Next Gen CGC Genetics - Porto, Portugal |
Mental retardation, X-linked (NGS panel for 89 genes) method(s): ◦ Sequencing, Next Gen CGC Genetics - Porto, Portugal |
Epilepsy Exome Panel method(s): ◦ Sequencing, Next Gen University of Chicago, Genetic Services Laboratory - Chicago, IL, USA |
Abnormal/Ambiguous Genitalia Sequencing Test method(s): ◦ Sequencing, Next Gen University of Chicago, Genetic Services Laboratory - Chicago, IL, USA |
46,XY Disorders of Sex Development/Complete Gonadal Dysgenesis Sequencing Panel method(s): ◦ Sequencing, Next Gen University of Chicago, Genetic Services Laboratory - Chicago, IL, USA |
46,XX Disorders of Sex Development/Complete Gonadal Dysgenesis Sequencing Panel method(s): ◦ Sequencing, Next Gen University of Chicago, Genetic Services Laboratory - Chicago, IL, USA |
Comprehensive Cellular Energetics Defects (NextGen Sequencing Panel and Copy Number Analysis; 431 genes + mtDNA) method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen MNG Laboratories (Medical Neurogenetics, LLC.) - Atlanta, GA, USA |
Cellular Energetics Ophthalmoplegia Syndromes (NextGen Sequencing Panel and Copy Number Analysis; 22 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 |
Comprehensive Ophthalmoplegia Syndromes (NextGen Sequencing Panel and Copy Number Analysis; 55 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 |
HCCS Full Gene Sequencing Analysis method(s): ◦ Sequencing, Capillary (Sanger) MNG Laboratories (Medical Neurogenetics, LLC.) - Atlanta, GA, USA |
Mitochondrial Neuronal Migration Disorders (NextGen Sequencing Panel and Copy Number Analysis; 11 genes + mtDNA) method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen MNG Laboratories (Medical Neurogenetics, LLC.) - Atlanta, GA, USA |
Comprehensive Neuronal Migration Disorders (NextGen Sequencing Panel and Copy Number Analysis; 109 genes + mtDNA) method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen MNG Laboratories (Medical Neurogenetics, LLC.) - Atlanta, GA, USA |
Oxidative Phosphorylation (OXPHOS) Defects (NextGen Sequencing Panel and Copy Number Analysis; 232 genes + mtDNA) method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen MNG Laboratories (Medical Neurogenetics, LLC.) - Atlanta, GA, USA |
Microphthalmia, Panel Massive Sequencing (NGS) 14 Genes method(s): ◦ Sequencing, Next Gen Reference Laboratory Genetics - Hospitalet de Llobregat, Spain |
HCCS method(s): ◦ Sequencing, Next Gen ◦ Sequencing, Capillary (Sanger) ◦ Del/Dup (CNV) Fulgent Diagnostics - Temple City, CA, USA |
Nuclear-Mito NGS Panel method(s): ◦ Sequencing, Next Gen ◦ Sequencing, Capillary (Sanger) ◦ Del/Dup (CNV) Fulgent Diagnostics - Temple City, CA, USA |
XLID NGS Panel method(s): ◦ Sequencing, Next Gen ◦ Sequencing, Capillary (Sanger) ◦ Del/Dup (CNV) Fulgent Diagnostics - Temple City, CA, USA |
Hypospadias Sequencing Panel method(s): ◦ Sequencing, Next Gen University of Chicago, Genetic Services Laboratory - Chicago, IL, USA |
TAT: 3-5 weeks price: $1,490.00
Anophthalmia / Microphthalmia Sequencing Panel method(s): ◦ Sequencing, Next Gen PreventionGenetics (Prevention Genetics), Clinical DNA Testing and DNA Banking - Marshfield, WI, USA |
Microphthalmia NGS panel method(s): ◦ Sequencing, Next Gen IBMC-Institute for Cell and Molecular Biology, CGPP - Center for Predictive and Preventive Genetics - Porto, Portugal |
Microphthalmia syndromic type 7 method(s): ◦ Sequencing, Capillary (Sanger) ◦ Del/Dup (CNV) Centogene AG, Rare Disease Company - Rostock, Germany |
Anophthalmia/Microphthalmia/Coloboma/Anterior Segment Dysgenesis method(s): ◦ Sequencing, Next Gen Asper Biotech Ltd., Asper Biotech - Tartu, Estonia |
CentoMito™ Comprehensive method(s): ◦ Sequencing, Next Gen Centogene AG, Rare Disease Company - Rostock, Germany |
Neuromuscular Comprehensive Panel method(s): ◦ Sequencing, Next Gen Courtagen Life Sciences, Courtagen Diagnostics Laboratory - Woburn, MA, USA |
Mental retardation, X-linked panel method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen Centogene AG, Rare Disease Company - Rostock, Germany |
Microphthalmia/anophthalmia/coloboma spectrum panel method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen Centogene AG, Rare Disease Company - Rostock, Germany |
X-linked Intellectual Disability (NextGen Sequencing Panel and Copy Number Analysis; 103 Genes) method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen MNG Laboratories (Medical Neurogenetics, LLC.) - Atlanta, GA, 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 |
Hydrocephalus (NextGen Sequencing Panel and Copy Number Analysis; 68 Genes) method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen MNG Laboratories (Medical Neurogenetics, LLC.) - Atlanta, GA, USA |
Microphthalmia, Anophthalmia and Anterior Segment Dysgenesis Panel method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen Blueprint Genetics, Helsinki - Helsinki, Finland |
X-linked Mental Retardation Panel method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen Blueprint Genetics, Helsinki - Helsinki, Finland |
Microphthalmia, Anophthalmia and Anterior Segment Dysgenesis Panel method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen Blueprint Genetics, San Francisco - San Francisco, CA, USA |
X-linked Mental Retardation Panel method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen Blueprint Genetics, San Francisco - San Francisco, CA, USA |
Eye Diseases Comprehensive Panel method(s): ◦ Sequencing, Next Gen Asper Biotech Ltd., Asper Biotech - Tartu, Estonia |