Detection of mutations 12770A>G, 13045A>C, c.1308484A>T, 13513G>A and 13514A>G in the MTND5 mitochondrial gene
method(s): ◦ Sequencing, Capillary (Sanger) ◦ Mutation Scanning of Select Exons
Sistemas Genomicos, Medical Genetics Unit - Paterna, Spain |
Sanger sequencing of the MTND5 mitochondrial gene
method(s): ◦ Mutation Scanning of Entire Coding Region ◦ Sequencing, Capillary (Sanger)
Sistemas Genomicos, Medical Genetics Unit - Paterna, Spain |
mtSEEK® Mitochondrial Genome Sequencing
method(s): ◦ Sequencing, Next Gen
Courtagen Life Sciences, Courtagen Diagnostics Laboratory - Woburn, MA, USA |
DCM/LVNC Sequencing Panel
method(s): ◦ Sequencing, Next Gen
GeneDx - Gaithersburg, MD, USA |
Comprehensive Cardiomyopathy Panel
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen
GeneDx - Gaithersburg, MD, USA |
Mitochondrial Type MELAS Encephalopathy , Related Mutations
method(s): ◦ Mutation Scanning of Entire Coding Region
Reference Laboratory Genetics - Hospitalet de Llobregat, Spain |
Mitochondrial Disorders (mtDNA) Sequencing
method(s): ◦ Sequencing, Next Gen
ARUP Laboratories, Molecular Genetics Laboratory - Salt Lake City, UT, USA |
Mitochondrial Disorders Panel (mtDNA Sequencing and Deletion/Duplication, 121 Nuclear Genes Sequencing, 119 Nuclear Genes Deletion/Duplication)
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen
ARUP Laboratories, Molecular Genetics Laboratory - Salt Lake City, UT, USA |
Cardiomyopathy, Dilated (DCM)
method(s): ◦ Sequencing, Next Gen
GENETAQ, Molecular Genetics Centre - Malaga, Spain |
Leber Hereditary Optic Neuropathy
method(s): ◦ Sequencing, Capillary (Sanger)
L.E.S. Mikrogen Genetic Diagnosis Center - Ankara, Turkey |
Mitochondrial Disorders
method(s): ◦ Sequencing, Capillary (Sanger)
L.E.S. Mikrogen Genetic Diagnosis Center - Ankara, Turkey |
Leigh Syndrome (nuclear DNA mutation) Test
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Capillary (Sanger) ◦ Sequencing, Next Gen
MGZ München, Medizinisch Genetisches Zentrum München - München, Germany |
Mitochondrial Disorders Test
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Capillary (Sanger)
MGZ München, Medizinisch Genetisches Zentrum München - München, Germany |
mtDNA encoded Mitochondriopathies Panel
method(s): ◦ Sequencing, Next Gen
CeGaT GmbH - Tübingen, Germany |
Mitochondrial Disorders, Panel Massive Sequencing 37 Genes
method(s): ◦ Sequencing, Next Gen
Reference Laboratory Genetics - Hospitalet de Llobregat, Spain |
Leber optic atrophy (sequence analysis of MTND5 gene)
method(s): ◦ Sequencing, Capillary (Sanger)
CGC Genetics - Porto, Portugal |
MELAS syndrome (sequence analysis of MT-TL1 and MT-ND5 (m.13513G>A) genes)
method(s): ◦ Sequencing, Capillary (Sanger)
CGC Genetics - Porto, Portugal |
Leber Optic Atrophy (Lebersche Optikusatrophie)
method(s): ◦ Sequencing, Next Gen
Praxis fuer Humangenetik Wien - Vienna, Austria |
MELAS syndrome (MELAS)
method(s): ◦ Sequencing, Next Gen
Praxis fuer Humangenetik Wien - Vienna, Austria |
Myoclonic Epilepsy associated with Ragged-red Fibers (MERRF)
method(s): ◦ Sequencing, Next Gen
Praxis fuer Humangenetik Wien - Vienna, Austria |
Leigh syndrome due to mitochondrial complex I deficiency
method(s): ◦ Sequencing, Capillary (Sanger)
Centogene AG, Rare Disease Company - Rostock, Germany |
Mitochondrial complex I deficiency
method(s): ◦ Sequencing, Capillary (Sanger)
Centogene AG, Rare Disease Company - Rostock, Germany |
Leber optic atrophy
method(s): ◦ Sequencing, Capillary (Sanger)
Centogene AG, Rare Disease Company - Rostock, Germany |
Mitochondrial Genome NGS Panel
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen
Fulgent Diagnostics - Temple City, CA, USA |
CentoMito™ Genome
method(s): ◦ Sequencing, Next Gen
Centogene AG, Rare Disease Company - Rostock, Germany |
Leber optic atrophy panel
method(s): ◦ Sequencing, Next Gen
Centogene AG, Rare Disease Company - Rostock, Germany |
