Mitochondrial Metabolites, Plasma
Use
This test is useful for monitoring patients with mitochondrial disorders, organic acidurias, and ketone body disorders. Mitochondrial metabolites occur as physiologic intermediates in various metabolic pathways. Disorders involving these pathways may result in abnormal accumulation of metabolites. This test aids in evaluating abnormal plasma concentrations of metabolites linked to mitochondrial diseases, organic acidurias, and ketone metabolism deficiencies. It should be used as part of a broader diagnostic workup for these conditions.
Special Instructions
This test is not recommended as the initial screening test for mitochondrial disorders, organic acidurias, and ketone body disorders. Preferred initial tests include Organic Acids Screen (Urine), Amino Acids (Plasma), and Acylcarnitines (Plasma). If the Lactate Pyruvate Panel is ordered with this test, it may be canceled as it is included. Complete and send a Biochemical Genetics Test Request form if not ordering electronically.
Limitations
The test is intended to complement other diagnostic evaluations and should not be used in isolation for diagnosis. An interpretive report based on pattern recognition is provided, but individual quantitative results alone do not conclusively establish a diagnosis. Independent biochemical or genetic analyses are recommended to confirm diagnoses. Some metabolites may interfere with the quantitation of others, and such interferences will be noted in the report.
New York Approved
Methodology
Mass Spectrometry (GC-MS)
Biomarkers
LOINC Codes
- 101455-4
- 59462-2
- 2524-7
- 69843-1
- 6873-4
- 32338-6
- 75083-6
- 15038-3
- 47536-8
- 69789-6
- 72450-0
- 35871-3
- 75081-0
- 33273-4
- 75068-7
- 35868-9
- 35867-1
- 35869-7
- 35870-5
- 26904-3
- 69803-5
- 18771-6
Result Turnaround Time
3-9 days
Related Documents
For more information, please review the documents below
Specimen
Plasma
Volume
0.5 mL
Minimum Volume
0.1 mL
Container
Plastic vial
Collection Instructions
Centrifuge and aliquot plasma into a plastic vial.
Causes for Rejection
Gross hemolysis
Stability Requirements
| Temperature | Period |
|---|---|
| Frozen | 7 days |