Neurogenetic Mitochondrial Testing

Neurogenetic Mitochondrial Testing in the Laboratory for Personalized Genomic Testing is available. Click on the links below for a description of tests currently offered. For more information regarding Neurogenetic Mitochondrial testing, email pgminquiry@cumc.columbia.edu.

Part Type Test Menu
Mitochondrial Next Generation Sequencing  
NG-MITOSEQ mtDNA Whole Genome Sequencing
NG-MITOSEQ Mitochondrial DNA Point Mutations: MELAS, MERRF, NARP, LHON
Mitochondrial Disease Testing Molecular Tests:
NG-SB Southern Blot for Mitochondrial DNA Rearrangements
NG-MTD Mitochondrial DNA Depletion
  Biochemical Tests:
NB-MEM Mitochondrial Respiratory Chain Enzyme Analysis
NB-CO Coenzyme Q10 Level
NB-TP MNGIE-Thymidine Phosphorylase Deficiency
Neurodegenerative Disorder Testing  
NG-HDT Huntington Disease (HTT)
NG-C9 C9orf72 GGGGCC Repeat Expansion
NG-DYT Early Onset Torsion Dystonia (DYT1)
MGP-FMR1 Fragile X (FMR1) CGG Repeat Expansion
MGP-SMA Spinal Muscular Atrophy - SMN Copy Number