Test Catalog

Test ID: MITOP    
Mitochondrial Full Genome Analysis, Next-Generation Sequencing (NGS), Varies

Method Description Describes how the test is performed and provides a method-specific reference

Next-generation sequencing (NGS) is used to test for the presence of variants within the mitochondrial genome (includes 13 protein coding genes, 22 transfer RNA genes, and 2 ribosomal RNA genes) and to determine the mitochondrial haplogroup of the patient. Large deletions within the mitochondrial genome are first detected by gel electrophoresis (as size-shifted polymerase chain reaction bands), and the locations of the deletions in the mtDNA are then determined from the NGS data.


The haplogroup is computed using the software package HaploGrep.(Kloss-Brandstatter A, Pacher D, Schonherr S, et al: HaploGrep: a fast and reliable algorithm for automatic classification of mitochondrial DNA haplogroups. Hum Mutat 2011 Jan;32:25-32) and PhyloTree.(van Oven M, Kayser M: Updated comprehensive phylogenetic tree of global human mitochondrial DNA variation. Hum Mutat. 2009;30[2]:E386-E394 Available at www.phylotree.org)

PDF Report Indicates whether the report includes an additional document with charts, images or other enriched information


Day(s) and Time(s) Test Performed Outlines the days and times the test is performed. This field reflects the day and time the sample must be in the testing laboratory to begin the testing process and includes any specimen preparation and processing time required before the test is performed. Some tests are listed as continuously performed, which means assays are performed several times during the day.

Monday through Friday; Varies

Analytic Time Defines the amount of time it takes the laboratory to setup and perform the test. This is defined in number of days. The shortest interval of time expressed is "same day/1 day," which means the results may be available the same day that the sample is received in the testing laboratory. One day means results are available 1 day after the sample is received in the laboratory.

8 weeks

Maximum Laboratory Time Defines the maximum time from specimen receipt at Mayo Clinic Laboratories until the release of the test result

10 weeks

Specimen Retention Time Outlines the length of time after testing that a specimen is kept in the laboratory before it is discarded

Whole Blood: 2 weeks (if available); Extracted DNA: 3 months

Performing Laboratory Location Indicates the location of the laboratory that performs the test