nucSEEK® Comprehensive Sequence Analysis Of The Nuclear Mitochondrial Exome 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 OGDH method(s): ◦ Sequencing, Capillary (Sanger) CeGaT GmbH - Tübingen, Germany |
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 |
PDH/Tricarboxylic Acid Cycle (TCA) Defects (NextGen Sequencing Panel and Copy Number Analysis; 28 genes + mtDNA) method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen MNG Laboratories (Medical Neurogenetics, LLC.) - Atlanta, GA, USA |
OGDH method(s): ◦ Sequencing, Next Gen ◦ Sequencing, Capillary (Sanger) ◦ Del/Dup (CNV) Fulgent Diagnostics - Temple City, CA, USA |
Alpha-ketoglutarate dehydrogenase deficiency method(s): ◦ Sequencing, Capillary (Sanger) 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 |
TAT: 1-3 weeks price: $1,500.00
Invitae 2-Ketoglutarate Dehydrogenase Deficiency Panel method(s): ◦ Sequencing, Next Gen ◦ Del/Dup (CNV) Invitae - San Francisco, CA, USA |