Optic Atrophy Test method(s): ◦ Genotyping (Microarray, Beads, etc.) ◦ Sequencing, Next Gen Asper Biotech Ltd., Asper Biotech - Tartu, Estonia |
OPA3 Sequence analysis method(s): ◦ Mutation Scanning of Entire Coding Region ◦ Sequencing, Capillary (Sanger) ◦ Sequencing, Next Gen Radboud University Medical Center, Translational Metabolic Laboratory - Nijmegen, Netherlands |
PEO Panel (MitomeNGS) method(s): ◦ Sequencing, Next Gen Baylor Miraca Genetics Laboratories - Houston, TX, USA |
OPA3 Sequence Analysis method(s): ◦ Sequencing, Capillary (Sanger) Baylor Miraca Genetics Laboratories - Houston, TX, USA |
OPA3 Familial Mutation/Variant Analysis method(s): ◦ Sequencing, Capillary (Sanger) Baylor Miraca Genetics Laboratories - Houston, TX, USA |
OPA3 Prenatal Sequence Analysis method(s): ◦ Sequencing, Capillary (Sanger) Baylor Miraca Genetics Laboratories - Houston, TX, USA |
OPA3 Deletion/Duplication Analysis method(s): ◦ Del/Dup (CNV) Baylor Miraca Genetics Laboratories - Houston, TX, USA |
OPA3 Sequence and Deletion/Duplication Analysis method(s): ◦ Sequencing, Capillary (Sanger) ◦ Del/Dup (CNV) Baylor Miraca Genetics Laboratories - Houston, TX, USA |
Autosomal Dominant Optic Atrophy: OPA3 Gene Sequencing method(s): Emory University School of Medicine, Emory Molecular Genetics Laboratory - Atlanta, GA, USA |
Autosomal Dominant Optic Atrophy: OPA3 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 |
Optic Atrophy: Sequencing and Deletion/Duplication Panel method(s): Emory University School of Medicine, Emory Molecular Genetics Laboratory - Atlanta, GA, USA |
Ataxia Exome Panel method(s): ◦ Sequencing, Next Gen University of Chicago, Genetic Services Laboratory - Chicago, IL, USA |
nucSEEK® Comprehensive Sequence Analysis Of The Nuclear Mitochondrial Exome method(s): ◦ Sequencing, Next Gen Courtagen Life Sciences, Courtagen Diagnostics Laboratory - Woburn, MA, USA |
Comprehensive Mitochondrial Nuclear Gene Panel method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen GeneDx - Gaithersburg, MD, USA |
Methylglutaconic Aciduria Nuclear Gene Panel method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen GeneDx - Gaithersburg, MD, USA |
Mitochondrial Complex IV Deficiency Nuclear Gene Panel method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Capillary (Sanger) GeneDx - Gaithersburg, MD, USA |
MtDNA Depletion/Multiple Deletions Nuclear Gene Panel method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen GeneDx - Gaithersburg, MD, USA |
Progressive External Ophthalmoplegia (PEO)/Optic Atrophy Nuclear Gene Panel method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen GeneDx - Gaithersburg, MD, USA |
Combined Mito Genome Plus Mito 139 Nuclear Gene Panel method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen GeneDx - Gaithersburg, MD, USA |
Mitochondrial Disorders Multi-Gene Panel (Nuclear Genes) method(s): ◦ Sequencing, Capillary (Sanger) ◦ Sequencing, Next Gen Asper Biotech Ltd., Asper Biotech - Tartu, Estonia |
Dominant Optic Atrophy Type 3, Sequencing OPA3 Gene method(s): ◦ Sequencing, Capillary (Sanger) Reference Laboratory Genetics - Hospitalet de Llobregat, Spain |
3-Methylglutaconic Aciduria: Type 3 method(s): ◦ Genotyping (Microarray, Beads, etc.) Recombine - Livingston, NJ, USA |
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 |
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 |
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 |
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 |
Optic atrophy 3 (sequence analysis of OPA3 gene) method(s): ◦ Sequencing, Capillary (Sanger) CGC Genetics - Porto, Portugal |
TAT: 4-8 weeks price: $330.00
Analysis OPA3 gene (Optic Atrophy) method(s): ◦ Sequencing, Capillary (Sanger) Academic Medical Centre, University of Amsterdam, DNA Diagnostics Laboratory - Amsterdam, Netherlands |
Gedi-R, Genetic Eye Disease Panel for Retinal Genes method(s): ◦ Sequencing, Next Gen Ocular Genomics Institute Genetic Diagnostic Laboratory at Massachusetts Eye and Ear Infirmary - Boston, MA, USA |
Baby Genes Newborn Screening Panel method(s): ◦ Chromosome Analysis ◦ Del/Dup (CNV) ◦ Mutation Scanning of Entire Coding Region ◦ Mutation Scanning of Select Exons ◦ Sequencing, Next Gen ◦ Uniparental Disomy Baby Genes Inc - Golden, CO, USA |
Mitochondrial Diseases method(s): ◦ Sequencing, Next Gen MGZ München, Medizinisch Genetisches Zentrum München - München, Germany |
Cataract method(s): ◦ Sequencing, Next Gen MGZ München, Medizinisch Genetisches Zentrum München - München, Germany |
Hereditary Optic Atrophy method(s): ◦ Sequencing, Next Gen MGZ München, Medizinisch Genetisches Zentrum München - München, Germany |
Hereditary Spastic Paraplegia (HSP) method(s): ◦ Sequencing, Next Gen MGZ München, Medizinisch Genetisches Zentrum München - München, Germany |
Severe Recessive Childhood Diseases method(s): ◦ Sequencing, Next Gen MGZ München, Medizinisch Genetisches Zentrum München - München, Germany |
Optic Atrophy Type 3 Test method(s): ◦ Sequencing, Capillary (Sanger) ◦ Sequencing, Next Gen MGZ München, Medizinisch Genetisches Zentrum München - München, Germany |
Optic Atrophy Panel method(s): ◦ Sequencing, Next Gen CeGaT GmbH - Tübingen, Germany |
Choreatic Movement Disorders Panel method(s): ◦ Repeat Expansion / Contraction ◦ Sequencing, Next Gen CeGaT GmbH - Tübingen, Germany |
Ataxia and Differential Diagnoses Panel method(s): ◦ Repeat Expansion / Contraction ◦ Sequencing, Next Gen CeGaT GmbH - Tübingen, Germany |
Hereditary Spastic Paraplegias (HSP) and Differential Diagnoses Panel method(s): ◦ Sequencing, Next Gen CeGaT GmbH - Tübingen, Germany |
nucSEEK 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 |
Single gene testing OPA3 method(s): ◦ Sequencing, Capillary (Sanger) CeGaT GmbH - Tübingen, Germany |
Optic Atrophy: Sequencing Panel method(s): ◦ Sequencing, Capillary (Sanger) ◦ Sequencing, Next Gen CEN4GEN Institute for Genomics and Molecular Diagnostics - Edmonton, Canada |
Optic Atrophy: Deletion/Duplication Panel method(s): ◦ Del/Dup (CNV) CEN4GEN Institute for Genomics and Molecular Diagnostics - Edmonton, Canada |
Inherited Metabolic Disorders: Sequencing Panel method(s): ◦ Sequencing, Capillary (Sanger) ◦ Sequencing, Next Gen CEN4GEN Institute for Genomics and Molecular Diagnostics - Edmonton, Canada |
Inherited Metabolic Disorders: Deletion/Duplication Panel method(s): ◦ Del/Dup (CNV) CEN4GEN Institute for Genomics and Molecular Diagnostics - Edmonton, Canada |
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 |
Pan-Ethnic Carrier Screen: Gene Sequencing Panel method(s): ◦ Sequencing, Capillary (Sanger) ◦ Sequencing, Next Gen CEN4GEN Institute for Genomics and Molecular Diagnostics - Edmonton, Canada |
Pan-Ethnic Carrier Screen: Targeted Mutation Panel method(s): ◦ Sequencing, Capillary (Sanger) ◦ Sequencing, Next Gen CEN4GEN Institute for Genomics and Molecular Diagnostics - Edmonton, Canada |
Retina/Photoreceptor Dystrophy: Sequencing Panel method(s): ◦ Sequencing, Capillary (Sanger) ◦ Sequencing, Next Gen CEN4GEN Institute for Genomics and Molecular Diagnostics - Edmonton, Canada |
Retina/Photoreceptor Dystrophy: Deletion/Duplication Panel method(s): ◦ Del/Dup (CNV) CEN4GEN Institute for Genomics and Molecular Diagnostics - Edmonton, Canada |
Autosomal Dominant Optic Atrophy: OPA3 Gene Deletion/Duplication method(s): ◦ Del/Dup (CNV) CEN4GEN Institute for Genomics and Molecular Diagnostics - Edmonton, Canada |
Autosomal Dominant Optic Atrophy: OPA3 Gene Sequencing method(s): ◦ Sequencing, Capillary (Sanger) ◦ Sequencing, Next Gen CEN4GEN Institute for Genomics and Molecular Diagnostics - Edmonton, Canada |
Pan-Ethnic Carrier Screen: Mutation and SMA Analysis method(s): ◦ Sequencing, Capillary (Sanger) ◦ Sequencing, Next Gen CEN4GEN Institute for Genomics and Molecular Diagnostics - Edmonton, Canada |
Pan-Ethnic Carrier Screen: Full Gene Sequencing and SMA Analysis method(s): ◦ Sequencing, Capillary (Sanger) ◦ Sequencing, Next Gen CEN4GEN Institute for Genomics and Molecular Diagnostics - Edmonton, Canada |
Optic Atrophy, Panel Massive Sequencing 4 Genes method(s): ◦ Sequencing, Next Gen Reference Laboratory Genetics - Hospitalet de Llobregat, Spain |
Ataxia/Episodic Ataxia Disorders (NextGen Sequencing Panel and Copy Number Analysis; 330 Genes + mtDNA) method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen MNG Laboratories (Medical Neurogenetics, LLC.) - Atlanta, GA, 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 |
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 |
Lipid Metabolism Deficiency (NextGen Sequencing Panel and Copy Number Analysis; 71 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 |
Spastic Paraplegia (NextGen Sequencing Panel and Copy Number Analysis; 130 Genes + mtDNA) method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen MNG Laboratories (Medical Neurogenetics, LLC.) - Atlanta, GA, USA |
Eye Disorders NGS Panel method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Capillary (Sanger) ◦ Sequencing, Next Gen Fulgent Diagnostics - Temple City, CA, USA |
Myopathy-Rhabdomyolysis NGS Panel 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 |
OPA3 method(s): ◦ Sequencing, Next Gen ◦ Sequencing, Capillary (Sanger) ◦ Del/Dup (CNV) Fulgent Diagnostics - Temple City, CA, USA |
Spastic Paraplegia NGS Panel method(s): ◦ Sequencing, Next Gen ◦ Sequencing, Capillary (Sanger) ◦ Del/Dup (CNV) Fulgent Diagnostics - Temple City, CA, USA |
Horizon 106 (Comprehensive Jewish Panel) method(s): ◦ Del/Dup (CNV) ◦ Repeat Expansion / Contraction ◦ Sequencing, Next Gen Natera, Inc. - San Carlos, CA, USA |
Horizon 274 (Pan-Ethnic Extended Panel) method(s): ◦ Del/Dup (CNV) ◦ Repeat Expansion / Contraction ◦ Sequencing, Next Gen Natera, Inc. - San Carlos, CA, USA |
TAT: 3-4 weeks price: $690.00
Autosomal Dominant Optic atrophy with cataract (ADOAC) and Costeff Syndrome or 3-methylglutaconic aciduria, type III (MGA3) via the OPA3 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
Mitochondrial Genome Maintenance/Integrity Nuclear Genes 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: $1,290.00
Optic Atrophy 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: $490.00
Autosomal Dominant Optic atrophy with cataract (ADOAC) and Costeff Syndrome or 3-methylglutaconic aciduria, type III (MGA3) via the OPA3 Gene method(s): ◦ Sequencing, Capillary (Sanger) PreventionGenetics (Prevention Genetics), Clinical DNA Testing and DNA Banking - Marshfield, WI, USA |
TAT: 3-5 weeks price: $1,540.00
Mitochondrial Genome Maintenance/Integrity Nuclear Genes Sequencing panel method(s): ◦ Sequencing, Next Gen PreventionGenetics (Prevention Genetics), Clinical DNA Testing and DNA Banking - Marshfield, WI, USA |
TAT: 3-5 weeks price: $1,590.00
Optic Atrophy Sequencing Panel method(s): ◦ Sequencing, Next Gen PreventionGenetics (Prevention Genetics), Clinical DNA Testing and DNA Banking - Marshfield, WI, USA |
3-methylglutaconic aciduria type 3 method(s): ◦ Sequencing, Capillary (Sanger) Centogene AG, Rare Disease Company - Rostock, Germany |
Optic atrophy type 3 method(s): ◦ Sequencing, Capillary (Sanger) Centogene AG, Rare Disease Company - Rostock, Germany |
Family Prep Screen method(s): ◦ Del/Dup (CNV) ◦ Repeat Expansion / Contraction ◦ Sequencing, Next Gen Counsyl, Inc., Counsyl - South San Francisco, CA, USA |
CEN4GEN rapid carrier screen: Full gene sequencing panel method(s): ◦ Sequencing, Next Gen CEN4GEN Institute for Genomics and Molecular Diagnostics - Edmonton, Canada |
CEN4GEN rapid diagnostic screen: Full gene sequencing panel method(s): ◦ Sequencing, Next Gen CEN4GEN Institute for Genomics and Molecular Diagnostics - Edmonton, Canada |
3-methylglutaconic aciduria, type III: Full gene sequencing (Rapid testing) method(s): ◦ Sequencing, Next Gen CEN4GEN Institute for Genomics and Molecular Diagnostics - Edmonton, Canada |
Optic atrophy 3 with cataract: Full gene sequencing (Rapid testing) method(s): ◦ Sequencing, Next Gen CEN4GEN Institute for Genomics and Molecular Diagnostics - Edmonton, Canada |
Ataxia/Episodic Ataxia Disorders (NextGen Sequencing Panel, Copy Number Analysis; 330 Genes + mtDNA + HTT Repeat Expansion Analysis) method(s): ◦ Del/Dup (CNV) ◦ Repeat Expansion / Contraction ◦ Sequencing, Next Gen MNG Laboratories (Medical Neurogenetics, LLC.) - Atlanta, GA, USA |
TAT: 3-5 weeks price: $2,390.00
Comprehensive Inherited Retinal Dystrophies (includes RPGR ORF15) Sequencing Panel method(s): ◦ Sequencing, Next Gen PreventionGenetics (Prevention Genetics), Clinical DNA Testing and DNA Banking - Marshfield, WI, USA |
TAT: 3-4 weeks price: $1,990.00
Comprehensive Inherited Retinal Dystrophies Deletion/Duplication Panel method(s): ◦ Del/Dup (CNV) PreventionGenetics (Prevention Genetics), Clinical DNA Testing and DNA Banking - Marshfield, WI, USA |
Pan-European Carrier Screening method(s): ◦ Sequencing, Next Gen MNG Laboratories (Medical Neurogenetics, LLC.) - Atlanta, GA, USA |
Ataxia/Episodic Ataxia Disorders (NextGen Sequencing Panel and Copy Number Analysis; 330 Genes + mtDNA + SCA and HTT Repeat Expansion Analysis) method(s): ◦ Del/Dup (CNV) ◦ Repeat Expansion / Contraction ◦ Sequencing, Next Gen MNG Laboratories (Medical Neurogenetics, LLC.) - Atlanta, GA, USA |
Ataxia/Episodic Ataxia Disorders (NextGen Sequencing Panel and Copy Number Analysis; 330 Genes + mtDNA + FRDA Repeat Expansion Analysis) method(s): ◦ Del/Dup (CNV) ◦ Repeat Expansion / Contraction ◦ Sequencing, Next Gen MNG Laboratories (Medical Neurogenetics, LLC.) - Atlanta, GA, USA |
Ataxia/Episodic Ataxia Disorders (NextGen Sequencing Panel and Copy Number Analysis; 330 Genes + mtDNA + SCA and FRDA Repeat Expansion Analysis) method(s): ◦ Del/Dup (CNV) ◦ Repeat Expansion / Contraction ◦ Sequencing, Next Gen MNG Laboratories (Medical Neurogenetics, LLC.) - Atlanta, GA, USA |
CentoICU Platinum method(s): ◦ Sequencing, Next Gen Centogene AG, Rare Disease Company - Rostock, Germany |
CentoMito™ Comprehensive method(s): ◦ Sequencing, Next Gen Centogene AG, Rare Disease Company - Rostock, Germany |
CEN4GEN Rapid supplemental newborn screen: Full gene sequencing panel method(s): ◦ Sequencing, Next Gen CEN4GEN Institute for Genomics and Molecular Diagnostics - Edmonton, Canada |
NGS Mitochondrial Depletion Panel method(s): ◦ Sequencing, Next Gen Greenwood Genetic Center Diagnostic Laboratories - Greenwood, SC, USA |
Mitochondrial Nuclear Gene Panel by Next Generation Sequencing (NGS) method(s): ◦ Sequencing, Capillary (Sanger) ◦ Sequencing, Next Gen Mayo Clinic - Minnesota, Molecular Genetics Laboratory - Rochester, MN, USA |
TAT: 1-3 weeks price: $1,500.00
Invitae Organic Acidemias Panel method(s): ◦ Sequencing, Next Gen ◦ Del/Dup (CNV) Invitae - San Francisco, CA, USA |
TAT: 1-3 weeks price: $1,500.00
Invitae 3-Methylglutaconic Aciduria Panel method(s): ◦ Sequencing, Next Gen ◦ Del/Dup (CNV) Invitae - San Francisco, CA, USA |
TAT: 1-3 weeks price: $1,500.00
Invitae Metabolic Disorders Newborn Screening Confirmation Panel method(s): ◦ Sequencing, Next Gen ◦ Del/Dup (CNV) Invitae - San Francisco, CA, USA |
TAT: 1-3 weeks price: $1,500.00
Invitae Elevated C5-OH Panel method(s): ◦ Sequencing, Next Gen ◦ Del/Dup (CNV) Invitae - San Francisco, CA, USA |
Myopathy-rhabdomyolysis syndrome panel method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen Centogene AG, Rare Disease Company - Rostock, Germany |
Optic atrophy panel method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen Centogene AG, Rare Disease Company - Rostock, Germany |
TAT: 3-5 weeks price: $1,790.00
Metabolic Myopathies, Rhabdomyolysis and Exercise Intolerance 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
Metabolic Myopathies, Rhabdomyolysis and Exercise Intolerance Deletion/Duplication Panel method(s): ◦ Del/Dup (CNV) PreventionGenetics (Prevention Genetics), Clinical DNA Testing and DNA Banking - Marshfield, WI, USA |
Cataract 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 |
Glaucoma Panel method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen Blueprint Genetics, Helsinki - Helsinki, Finland |
Metabolic Myopathy and Rhabdomyolysis Panel method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen Blueprint Genetics, Helsinki - Helsinki, Finland |
Mitochondrial DNA Depletion Syndrome Panel method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen Blueprint Genetics, Helsinki - Helsinki, Finland |
Neuro-Ophthalmology Panel method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen Blueprint Genetics, Helsinki - Helsinki, Finland |
Optic Atrophy Panel method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen Blueprint Genetics, Helsinki - Helsinki, Finland |
Retinal Dystrophy Panel method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen Blueprint Genetics, Helsinki - Helsinki, Finland |
Cataract 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 |
Glaucoma Panel method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen Blueprint Genetics, San Francisco - San Francisco, CA, USA |
Metabolic Myopathy and Rhabdomyolysis Panel method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen Blueprint Genetics, San Francisco - San Francisco, CA, USA |
Mitochondrial DNA Depletion Syndrome Panel method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen Blueprint Genetics, San Francisco - San Francisco, CA, USA |
Neuro-Ophthalmology Panel method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen Blueprint Genetics, San Francisco - San Francisco, CA, USA |
Optic Atrophy Panel method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen Blueprint Genetics, San Francisco - San Francisco, CA, USA |
Retinal Dystrophy 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 |