Mitochondrial DNA Depletion Testing (Leukocyte)

Blood | Leukocyte DNA

Blood: Draw blood in a lavender top EDTA tube, Sample Stability: 5-7 days, Preferred volume: 4 ml, Minimum volume: 2 ml, DO NOT FREEZE. Extracted DNA from leukocytes: Preferred quantity: 1 microgram, Minimum quantity: 800 nanograms. Genomic DNA should be eluted in sterile Dnase/Rnase free water or TE. The A260:A280 ratio should be 1.8-2.0.

Blood: Lavender-Top (EDTA) Tube, Extracted DNA: Sterile screw capped vial

Blood: Specimens should be shipped overnight in a secure container at room temperature. Extracted DNA: Should be shipped overnight at room temperature. If previously frozen, DNA can be shipped in an insulated container with wet or dry ice.

Blood - ship ASAP, but stable up to 5 days post-collection at room temperature. DO NOT FREEZE; DNA - ship at room temperature after extraction

Room Temperature: Blood - 5 days, DNA - 30 days; Refrigerated: Blood - 5 days, DNA - 30 days; Frozen: Blood - DO NOT FREEZE, DNA - Indefinitely; Freeze/Thaw: None

Extracted DNA A260:A280 ratio of outside of 1.8-2.0 range; Frozen blood EDTA tube; Thawed and/or fatty muscle sample; Insufficient buccal cell collection

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. hepatic dysfunction, psychomotor delay), myopathic (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).">Genetic Home Reference

Real-time Quantitative PCR Analysis

SINGLE Blood Genetic Testing, Buccal Swab Genetic Testing