NUBPL Sequence Analysis method(s): ◦ Sequencing, Capillary (Sanger) Baylor Miraca Genetics Laboratories - Houston, TX, USA |
NUBPL Familial Mutation/Variant Analysis method(s): ◦ Sequencing, Capillary (Sanger) Baylor Miraca Genetics Laboratories - Houston, TX, USA |
NUBPL Prenatal Sequence Analysis method(s): ◦ Sequencing, Capillary (Sanger) Baylor Miraca Genetics Laboratories - Houston, TX, USA |
NUBPL Deletion/Duplication Analysis method(s): ◦ Del/Dup (CNV) Baylor Miraca Genetics Laboratories - Houston, TX, USA |
NUBPL Sequence and Deletion/Duplication Analysis method(s): ◦ Sequencing, Capillary (Sanger) ◦ Del/Dup (CNV) Baylor Miraca Genetics Laboratories - Houston, TX, 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 |
Mitochondrial Complex I Deficiency Nuclear Gene Panel method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Capillary (Sanger) 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 |
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 |
Complex I Defect 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 |
Ataxia and Differential Diagnoses Panel method(s): ◦ Repeat Expansion / Contraction ◦ Sequencing, Next Gen CeGaT GmbH - Tübingen, Germany |
Leukodystrophy / Leukencephalopathy 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 |
Mitochondrial complex I deficiency (sequence analysis of NUBPL gene) method(s): ◦ Sequencing, Capillary (Sanger) CGC Genetics - Porto, Portugal |
Mitochondrial Diseases – Nuclear Genes Only: Sequencing Panel method(s): ◦ Sequencing, Capillary (Sanger) ◦ Sequencing, Next Gen CEN4GEN Institute for Genomics and Molecular Diagnostics - Edmonton, Canada |
Mitochondrial Diseases – Nuclear Genes Only: Deletion/Duplication Panel method(s): ◦ Del/Dup (CNV) CEN4GEN Institute for Genomics and Molecular Diagnostics - Edmonton, Canada |
Epilepsy Exome Panel method(s): ◦ Sequencing, Next Gen University of Chicago, Genetic Services Laboratory - Chicago, IL, USA |
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 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 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 |
Comprehensive Muscular Dystrophy/Myopathy (NextGen Sequencing Panel and Copy Number Analysis; 407 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 |
Leigh Disease (NextGen Sequencing Panel and Copy Number Analysis; 75 genes + mtDNA) 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 |
Mitochondrial Leukodystrophy/Leukoencephalopathy (NextGen Sequencing Panel and Copy Number Analysis; 45 genes + mtDNA) method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen MNG Laboratories (Medical Neurogenetics, LLC.) - Atlanta, GA, USA |
NUBPL Full Gene Sequencing Analysis method(s): ◦ Sequencing, Capillary (Sanger) 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 |
NUBPL 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/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 |
Leigh syndrome method(s): ◦ Sequencing, Capillary (Sanger) ◦ Del/Dup (CNV) Centogene AG, Rare Disease Company - Rostock, Germany |
TAT: 3-5 weeks price: $1,980.00
Mitochondrial Complex I Deficiency Sequencing Panel (Nuclear Genes) method(s): ◦ Sequencing, Next Gen PreventionGenetics (Prevention Genetics), Clinical DNA Testing and DNA Banking - Marshfield, WI, USA |
TAT: 2-3 weeks price: $870.00
Mitochondrial Complex I Deficiency via the NUBPL Gene method(s): ◦ Sequencing, Capillary (Sanger) PreventionGenetics (Prevention Genetics), Clinical DNA Testing and DNA Banking - Marshfield, WI, 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 |
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 |
Leigh syndrome and mitochondrial encephalopathy panel method(s): ◦ Del/Dup (CNV) ◦ 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 |
NUBPL Gene Sequencing method(s): ◦ Sequencing, Capillary (Sanger) Cincinnati Children's Hospital Medical Center, Molecular Genetics Laboratory - Cincinnati, OH, USA |