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Mitochondrial DNA Depletion Testing (Leukocyte)
This assay is not currently available in New York state.
Expected Turnaround Time
2 - 4 weeks
Turnaround time is defined as the usual number of days from the date of pickup of a specimen for testing to when the result is released to the ordering provider. In some cases, additional time should be allowed for additional confirmatory or additional reflex tests. Testing schedules may vary.
Lavender-top (EDTA) tube
Draw blood into EDTA tube.
Ship ASAP, but stable up to 5 days post-collection at room temperature. Do not freeze.
Do not freeze
Causes for Rejection
Frozen blood EDTA tube
To diagnose the mitochondrial DNA depletion syndrome (MDS). The test is also useful in assessing variants of uncertain significance in nuclear DNA genes that cause MDS. MDS is a clinically heterogeneous group of mitochondrial disorders characterized by a reduction of the mtDNA copy number in affected tissues without mutations or rearrangements in the mtDNA. MDS is phenotypically heterogeneous, and can affect a specific organ or a combination of organs, with the main presentations described being either hepatocerebral (i.e. hypotonia, muscle weakness, bulbar weakness), encephalomyopathic (i.e. hypotonia, muscle weakness, psychomotor delay) or neurogastrointestinal (i.e. gastrointestinal dysmotility, peripheral neuropathy). Additional phenotypes include fatal infantile lactic acidosis with methylmalonic aciduria, spastic ataxia (early-onset spastic ataxia-neuropathy syndrome), and Alpers syndrome (see these terms).
This test was developed and its performance characteristics determined by LabCorp. It has not been cleared or approved by the Food and Drug Administration.
Real-time Quantitative PCR Analysis
|Order Code||Order Code Name||Order Loinc||Result Code||Result Code Name||UofM||Result LOINC|
|620108||mtDNA Depletion - Leukocytes||230163||Specimen Status||N/A|
|620108||mtDNA Depletion - Leukocytes||620109||mtDNA Dep Leukocyte Result||35470-4|
|620108||mtDNA Depletion - Leukocytes||620111||mtDNA Dep Leukocyte Int.||N/A|