Creatine and guanidinoacetate panel - Cerebral spinal fluid 79288-7
LOINC Code
| LOINC code | 79288-7 | ||
|---|---|---|---|
| name | Creatine and guanidinoacetate panel - Cerebral spinal fluid | ||
| description | Measurements of guanidinoacetate (GAA) and creatine (Cr) in cerebrospinal fluid (CSF) are performed for biochemical diagnosis of Guanidinoacetate methyltransferase (GAMT) deficiency, an inherited metabolic disorder of creatine metabolism that is characterized by mental retardation, developmental delay or regression, mental retardation, expressive and cognitive speech delay, and intractable seizures and movement disturbances.[OMIM: 612736] [PMID: 15234334] | ||
| status | ACTIVE | ||
Fully-Specified Name | |||
| component | Creatine & guanidinoacetate 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 | CSF = Cerebral spinal fluid | ||
| scale | Qn = Quantitative: The result of the test is a numeric value that relates to a continuous numeric scale. Reported either as an integer, a ratio, a real number, or a range. The test result value may optionally contain a relational operator from the set {<=, <, >, >=}. Valid values for a quantitative test are of the form "7", "-7", "7.4", "-7.4", "7.8912", "0.125", "<10", "<10.15", ">12000", 1-10, 1:256 | ||
| method | |||
Additional Names | |||
| short name | Cr and GAA Pnl CSF | ||
Basic Attributes | |||
| class | PANEL.CHEM | ||
| type | 1 Laboratory | ||
| order vs. observation | Order | ||
Panel Components | |||
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. | |||
History/Usage | |||
| first released | |||
| last updated | 2.54 | ||
| last change type | MIN - change to field other than name | ||
Related Names | |||
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