Guest guest Posted August 28, 2004 Report Share Posted August 28, 2004 --- Mito lab tests Date: Sat, 28 Aug 2004 13:27:54 -0700 To: Gregorich dgregori@...> Initial Laboratory Evaluation Test Tissue* Comment Glucose B Electrolytes B Blood Counts B Lactate B Proper technique must be used, tourniquet must be released before blood is sampled Ammonia B Metabolic Screen B,U The metabolic screen varies between hospitals, but may include screening testing for a variety of disorders as well as urine and blood amino acid profile, and screening organic acid testing Ketones B,U Most valuable if collected at the time of an illness * B = blood, U = Urine Secondary Laboratory Evaluation Test Tissue* Comment Lactate B, CSF See above pyruvate B Proper determination of pyruvate requires the specimen be instantly deprotinized. L/P Ratio B The ratio of lactate to pyruvate can be very helpful in determine: which type of disorder may be present Amino Acids B,U, CSF Urine collections may be random or timed; and may be collected after a meal or after a fasting period, depending on the clinical situation. " Generalized aminoaciduria " may indicate the presence of a mitochondrial cytopathy, as well as other medical conditions. Organic Acids U, CSF Samples must be kept refrigerated or frozen. Different techniques, some more sensitive are used by certain laboratories. Urine collections may be random or timed, and may be collected after a fasting period. depending on the clinical situation. Carnitine Analysis B,U Most laboratories determine the free carnitine and total carnitine. Fractionation into specific acyl carnitines may be helpful in some situations. Urine collections may be random or timed, and may be collected after a fasting period, depending on the clinical situation. Ketones B,U Fractionation of ketones into b -hydroxybuterate and acetoacetate may be helpful. This test is most valuable if collected during an acute illness or after a fast. Free Fatty Acids B Mitochondrial DNA Point Mutations B If a patient fits into a specific, well-described mitochondrial phenotype, testing for specific, known point mutations may be helpful at this stage. Mitochondrial DNA Southern Blot B If a patient fits into a specific, well-described mitochondrial phenotype, Southern bolt testing may be helpful at this stage. * B = blood, U = Urine, CSF = Cerebral Spinal Fluid Tertiary Laboratory Testing Test Comment Repeat Testing Repeating some of the above listed tests, sometimes under different conditions (such as during an illness), may be helpful. Provocative Testing Under monitored conditions, usually in the hospital, repeating some of the above tests after a fast or after a specific meal or intravenous infusion, may be helpful. Skin Biopsy A skin (also known as a fibroblast) culture can be established with the skin obtained from a biopsy. This can be sent for testing electron transport chain activity, ß-oxidation disorders, as well as for a variety of other specific diseases. Mitochondrial DNA Point Mutations If a patient fits into a specific, well-described mitochondrial phenotype, testing for specific, known point mutations may be helpful at this stage. Mitochondrial DNA Southern Blot If a patient fits into a specific, well-described mitochondrial phenotype, Southern blot testing may be helpful at this stage. Coenzyme Q10 Blood Test, will be available on muscle and mitochondria in the near future Quote Link to comment Share on other sites More sharing options...
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