Mitochondrial Respiratory Chain Enzymes, Skeletal Muscle
| Abbrev Code: | XMISC | ||
| Order Code: | LAB4909 | Order Name: | Laboratory Miscellaneous Order |
| Methodology: | Spectrophotometric | ||
| 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 |
Interpretive
| 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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