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General
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Clinical Use:
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Methylmalonic acid is primarily used in diagnosis and monitoring of inherited disorders of methylmalonyl CoA mutase and cobalamin metabolism. It may also be increased with functional vitamin B12 deficiency.
Samples are accepted from patients with disorders of methylmalonyl CoA mutase or disorders of cobalamin metabolism or where these inherited disorders are suspected clinically.
Samples for suspected functional vitamin B12 deficiency may only be accepted if the vitamin B12 and holotranscobalamin results are low or equivocal.
Medicare rebate: Additional billing may occur where these criteria are not met. |
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Availability:
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Samples are batched and tested weekly. |
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Aliases/Synonyms:
| MMA, |
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Code:
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MMA |
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Handling Instructions (to laboratory):
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Send separated sample frozen on dry ice. |
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Hyperlink:
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Reference Interval:
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Refer to report or laboratory
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Collection Requirements
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Container:
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Lithium Heparin-PST (GREEN), |
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Sample Type:
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See container |
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Minimum Collection Volume:
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0.5mL |
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Collection Instructions:
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Sample must be centrifuged, separated and frozen immediately following collection. |
Processing Requirements
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Alternate Containers:
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Serum Sep. Tube-SST (GOLD) |
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Processing Instructions:
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Centrifuge, separate and freeze sample.
Check with BGU before adding this test to a previously collected sample. |
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Minimum Assay Volume:
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Stability:
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Transport Instructions (to testing laboratory):
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Send separated sample frozen on dry ice. |
Testing Locations
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Performed at:
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Section
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Department
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Site
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Contact Phone
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| Metabolic |
Biochemical Genetics Unit |
QEII Medical Centre |
6383 4140 |
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Last Updated : 28-02-2025 08:04 |