Carnitine biosynthesis intermediates pattern newborn screen interpretation 79339-8
LOINC Code
| LOINC code | 79339-8 | ||
|---|---|---|---|
| name | Carnitine biosynthesis intermediates pattern newborn screen interpretation | ||
| 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 pattern | ||
| property | Imp = Impression/interpretation of study | ||
| 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 | Bld.dot = Blood filter paper | ||
| scale | Nar = Narrative: Text narrative, such as the description of a microscopic part of a surgical papule test. | ||
| method | |||
Additional Names | |||
| short name | Carnitine biosynthesis pattern DBS-Imp | ||
Basic Attributes | |||
| class | CHEM | ||
| type | 1 Laboratory | ||
| order vs. observation | Observation | ||
Associated Observations | |||
LOINC codes that represent optional associated observation(s) for a clinical observation or laboratory test. A LOINC term may represent a single associated observation or panel containing several associated observations. | |||
Member of these Panels | |||
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History/Usage | |||
| first released | |||
| last updated | 2.54 | ||
| last change type | ADD - added | ||
Related Names | |||
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