79288-7
LOINC Code
| LOINC code | 79288-7 | ||||||
|---|---|---|---|---|---|---|---|
| name | |||||||
| 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 | Cerebral spinal fluid; Cerebrospinal Fl; Chemistry; Cr and GAA Pnl; GAA; glycocyamine; guanidinoacetic acid; guanidoacetic acid; Pan; PANEL.CHEMISTRY; Panl; Pnl; Point in time; QNT; Quan; Quant; Quantitative; Random; Spinal Fl; Spinal Fld; Spinal Flu; Spi | ||||||
Basic Attributes | |||||||
| class | PANEL.CHEM | ||||||
| type | 1 Laboratory | ||||||
| order vs. observation | Cr and GAA Pnl | ||||||
Panel Components | |||||||
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History/Usage | |||||||
| first released | |||||||
| last updated | 2.83 | ||||||
| last change type | MIN - change to field other than name | ||||||
Related Names | |||||||
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