Mitochondrial DNA Depletion Testing (Muscle)


Test Details
TEST CODE MOL001
TEST METHODOLOGY Real-time Quantitative PCR Analysis
TAT (TURNAROUND TIME) 2 - 4 weeks
CPT CODE 81479
PRICE $495

Clinical Information
Clinical Significance MOL001 is used 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).
Relevant Diseases
  • Mitochondrial DNA Depletion Syndrome
  • Mitochondrial DNA Depletion Syndrome, Encephalomyopathic Form
  • Mitochondrial DNA Depletion Syndrome, Hepatocerebral Form
  • Mitochondrial DNA Depletion Syndrome, MNGIE Form
  • Mitochondrial DNA Depletion Syndrome, Myopathic Form

Specimen Information
Acceptable Sample Types
  • Muscle
  • Extracted DNA - Muscle
Sample Preparation: (1) 50-75 milligrams muscle snap frozen in liquid nitrogen and maintained at -80┬░Celsius or below. (2) DNA extracted from muscle: Preferred quantity: 1 microgram, Minimum quantity: 600 nanograms.
Shipping Condition: (1) Extracted DNA should be shipped at ambient temperature, priority overnight. (2) Muscle samples should be shipped frozen in an insulated container with 5-7 lbs dry ice. All samples should be shipped overnight at the proper temperature for receipt by our lab Monday thru Saturday (No Sunday or holiday deliveries accepted).


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