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 |
Mitochondrial Encephalopathy/ Leigh Syndrome 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 |
MARS2 Sequence Analysis method(s): ◦ Sequencing, Capillary (Sanger) Baylor Miraca Genetics Laboratories - Houston, TX, USA |
MARS2 Familial Mutation/Variant Analysis method(s): ◦ Sequencing, Capillary (Sanger) Baylor Miraca Genetics Laboratories - Houston, TX, USA |
MARS2 Prenatal Sequence Analysis method(s): ◦ Sequencing, Capillary (Sanger) Baylor Miraca Genetics Laboratories - Houston, TX, USA |
MARS2 Deletion/Duplication Analysis method(s): ◦ Del/Dup (CNV) Baylor Miraca Genetics Laboratories - Houston, TX, USA |
MARS2 Sequence and Deletion/Duplication Analysis method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Capillary (Sanger) Baylor Miraca Genetics Laboratories - Houston, TX, USA |
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 |
Mitochondrial Encephalopathy method(s): ◦ Sequencing, Next Gen MGZ München, Medizinisch Genetisches Zentrum München - München, Germany |
Epilepsy method(s): ◦ Sequencing, Next Gen MGZ München, Medizinisch Genetisches Zentrum München - München, Germany |
Mitochondrial Diseases method(s): ◦ Sequencing, Next Gen MGZ München, Medizinisch Genetisches Zentrum München - München, Germany |
Epilepsy and Mitochondrial Encephalopathy 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 |
Ataxia and Differential Diagnoses Panel method(s): ◦ Repeat Expansion / Contraction ◦ Sequencing, Next Gen CeGaT GmbH - Tübingen, Germany |
nucSEEK Focus method(s): ◦ Sequencing, Next Gen Courtagen Life Sciences, Courtagen Diagnostics Laboratory - Woburn, MA, USA |
Single gene testing MARS2 method(s): ◦ Sequencing, Capillary (Sanger) CeGaT GmbH - Tübingen, Germany |
Comprehensive Neurogenetics Panel (290 genes) method(s): ◦ Sequencing, Next Gen Sherbrooke Genomic Medicine - Sherbrooke, Canada |
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 Dystonia (NextGen Sequencing Panel and Copy Number Analysis; 96 genes + mtDNA) method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen MNG Laboratories (Medical Neurogenetics, LLC.) - Atlanta, GA, USA |
Comprehensive Leukodystrophy/Leukoencephalopathy (NextGen Sequencing Panel and Copy Number Analysis; 104 Genes + mtDNA) method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen MNG Laboratories (Medical Neurogenetics, LLC.) - Atlanta, GA, USA |
Nonsyndromic Intellectual Disability (NextGen Sequencing Panel and Copy Number Analysis; 191 genes) 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 |
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 |
OXPHOS Defect Dystonia (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 |
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 |
Vanishing White Matter, Dysmyelinating, and Hypomyelinating Leukodystrophy (NextGen Sequencing Panel and Copy Number Analysis; 62 genes) method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen MNG Laboratories (Medical Neurogenetics, LLC.) - Atlanta, GA, USA |
MARS2 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 |
Ataxia, autosomal recessive and X-linked Panel method(s): ◦ Repeat Expansion / Contraction ◦ Sequencing, Next Gen CeGaT GmbH - Tübingen, Germany |
Spastic Ataxia (Spastische Ataxie) method(s): ◦ Sequencing, Capillary (Sanger) Praxis fuer Humangenetik Wien - Vienna, Austria |
Progressive and non-progressive ataxia method(s): ◦ Sequencing, Next Gen Sherbrooke Genomic Medicine - Sherbrooke, Canada |
Combined oxidative phosphorylation deficiency type 25 method(s): ◦ Sequencing, Capillary (Sanger) Centogene AG, Rare Disease Company - Rostock, Germany |
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 |
Comprehensive Dystonia (NextGen Sequencing Panel, Copy Number Analysis, and HTT Repeat Expansion Analysis; 96 genes + mtDNA) method(s): ◦ Del/Dup (CNV) ◦ Repeat Expansion / Contraction ◦ Sequencing, Next Gen MNG Laboratories (Medical Neurogenetics, LLC.) - Atlanta, GA, USA |
Spastic ataxia type 3, autosomal recessive method(s): ◦ Sequencing, Capillary (Sanger) ◦ Del/Dup (CNV) Centogene AG, Rare Disease Company - Rostock, Germany |
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 |
CentoMito™ Comprehensive method(s): ◦ Sequencing, Next Gen Centogene AG, Rare Disease Company - Rostock, Germany |
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 |
Ataxia 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, Helsinki - Helsinki, Finland |
Leukodystrophy and Leukoencephalopathy Panel method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen Blueprint Genetics, Helsinki - Helsinki, Finland |
Spastic Paraplegia Panel method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen Blueprint Genetics, Helsinki - Helsinki, Finland |
Ataxia Panel method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen Blueprint Genetics, San Francisco - San Francisco, CA, USA |
Comprehensive Epilepsy Panel method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen Blueprint Genetics, San Francisco - San Francisco, CA, USA |
Leukodystrophy and Leukoencephalopathy Panel method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen Blueprint Genetics, San Francisco - San Francisco, CA, USA |
Spastic Paraplegia Panel method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen Blueprint Genetics, San Francisco - San Francisco, CA, USA |