mtDNA Whole Genome Sequencing

mtDNA Whole Genome Sequencing

Purpose: To detect Mitochondrial DNA mutations.
CPT Codes: 81460
Methodology: Next Generation Sequencing
Turnaround Time: 21 days
Specimen: Muscle, Blood, or DNA
Genes Tested: Whole mitochondrial genome is sequenced to detect mutations in thirty seven encoded genes. These include: two rRNAs (12s rRNA and 16s rRNA), and twenty two tRNAs for translation of thirteen subunits of mitochondrial oxidative phosphorylation system (ND1; ND2; ND3; ND4; ND4L; ND5; ND6; Cyt. b; COX1; COX2; COX3; ATPase6; and ATPase8). 
Forms: For all Neurogenetics and Mitochondrial Testing, the required Test Requisition and Consent Forms can be requested by email at PGMInquiry@cumc.columbia.edu or contact the Columbia University Laboratory of Personalized Genomic Medicine at (212)305-9706.