Guest guest Posted August 28, 2004 Report Share Posted August 28, 2004 It is somthing to do with . I will try to send privately and see if that works. wrote: >--- 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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