79287-9
LOINC Code
| LOINC code | 79287-9 | ||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| name | |||||||||||||||||
| description | The carnitine biosynthesis intermediates panel in DBS is performed for the diagnosis of carnitine biosynthesis disorders, including X-linked trimethyllysine hydroxylase (TMLHE) deficiency, a disorder of carnitine metabolism that is associated with autism. | ||||||||||||||||
| status | ACTIVE | ||||||||||||||||
Fully-Specified Name | |||||||||||||||||
| component | Carnitine biosynthesis intermediates panel | ||||||||||||||||
| property | - | ||||||||||||||||
| time | Pt = Point in time: To identify measures at a point in time. This is a synonym for “spot” or “random” as applied to urine measurements. | ||||||||||||||||
| system | Urine | ||||||||||||||||
| scale | - | ||||||||||||||||
| method | |||||||||||||||||
Additional Names | |||||||||||||||||
| short name | Carnitine biosynthesis Panel; Carnitine.total; Chemistry; Pan; PANEL.CHEMISTRY; Panl; Pnl; Point in time; Random; UA; UR; Urn | ||||||||||||||||
Basic Attributes | |||||||||||||||||
| class | PANEL.CHEM | ||||||||||||||||
| type | 1 Laboratory | ||||||||||||||||
| order vs. observation | Carnitine biosy | ||||||||||||||||
Panel Components | |||||||||||||||||
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History/Usage | |||||||||||||||||
| first released | |||||||||||||||||
| last updated | 2.54 | ||||||||||||||||
| last change type | MIN - change to field other than name | ||||||||||||||||
Related Names | |||||||||||||||||
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