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Laboratory: Genomics  (MOLECULAR DIAGNOSTICS)
Test Name:
MITOCHONDRIAL RESPIRATORY CHAIN ENZYME ANALYSIS - SKELETAL MUSCLE
Test Code: MD
Clinical Information:
Description:  Mitochondrial respiratory chain enzyme assesses potential enzyme deficiencies mitochondrial respiratory chain complex I through IV.

This enzyme analysis is performed on muscle and the following 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

Values are normalized to citrate synthase if necessary.

 

Test Approval Requirements: Contact Lab Genetic Counsellor at GenomicsLabGC@sharedhealthmb.ca or ph:204-787-4033 with any questions.

Requests will be reviewed and approved by either a Molecular Geneticist or a committee of physicians with expertise in genetic and genomic conditions

Collection Devices:
Appropriate container for flash freezing of tissue sample, as per current Pathology protocols
Specimen Required:

Specimen Type: tissue
Collection Information: Minimum of 150 mg skeletal muscle (200 mg preferred) should be flash frozen in liquid nitrogen at collection with no media added.  Store at -80°C until shipping time.

Specimen Stability: Must be kept frozen and on dry ice

Referral:

Shipping & Storage: Ship by overnight courier on 3-5 lbs. of dry ice

Other comments: An interpretive report from the referral laboratory will be forwarded to the ordering physician.

Requisition:
Reference Values:
Availability:
By Prior Arrangement Only
Completed_SH Molecular Diagnostic Laboratory Out of Centre Genetic Test Requisition (R250-10-103) must be faxed to Laboratory Genetic Counselors at 204-787-2563 for review. Once approved, Laboratory team will transfer the appropriate sample from Pathology to Genomics, and process send out
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