Mitochondrial Respiratory Chain Enzymes, Skeletal Muscle

Abbrev Code:XMISC   
Order Code:LAB4909Order Name:Laboratory Miscellaneous Order
CPT Codes: 84311 x8, 82657 x8
Test Includes:Test for enzymatic deficiencies in mitochondrial respiratory chain complex I-V deficiencies.  This enzyme analysis is performed on muscle and these enzymes are analyzed: Ferricyanide:NADH dehydrogenase I; NADH:cytochrome c reductase I-III; Succinate dehydrogenase II; Succinate:cytochrome c reductase II-III; Cytochrome c oxidase IV; Citrate synthase. 
Turnaround Time:Specimens are sent to reference laboratory Mon-Fri; results are reported within 21 days.

Collection Instructions

Specimen:See collection instructions.
Collection Instructions:150 mg Muscle or Skin Fibroblasts. Do not add fluid to tissue.

Processing and Shipping

Specimen Processing:Freeze.
Shipping Instructions:Ship overnight on dry ice.
Test Performed at or Referral Lab Lab Sendouts  (Baylor College of Medicine)
Referral Lab number:3200


Use:The mitochondrial respiratory chain contains 5 complexes which play a critical role in generating ATP. Mitochondrial complex I-V deficiencies are variable multi-organ disorders affecting primarily the nervous system, heart, and skeletal muscles. Symptoms may be present at birth or can develop at any time in the lifecycle. Individuals with mitochondrial complex I-V deficiencies may present with encephalopathy, epilepsy, intellectual disability, ataxia, and/ or dystonia. Affected individuals may also exhibit hypotonia, myalgia, exercise intolerance, and lactic acidosis, which may become life-threatening and result in heart, liver, kidney or eye disease. 

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