94489-2
LOINC Code
| LOINC code | 94489-2 | |
|---|---|---|
| name | ||
| description | This panel is used for patients with positive newborn screening results or signs and symptoms of a lysosomal storage disorder, including Fabry disease, Gaucher disease, Krabbe disease, Niemann-Pick A/B, Pompe disease, and mucopolysaccharidosis I. If levels of alpha glucosidase or galactosylceramidase are below normal range on initial testing, confirmatory testing is performed. Confirmatory testing methods may vary between laboratories and include Liquid Chromatography-Tandem Mass Spectrometry. | |
| status | ACTIVE | |
Fully-Specified Name | ||
| component | Lysosomal storage disorders 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 | WBC = Leukocytes | |
| 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 | Chemistry; Leukocytes; LSD pnl; Pan; PANEL.CHEMISTRY; Panl; Pnl; Point in time; QNT; Quan; Quant; Quantitative; Random; WBCs; White blood cells | |
Basic Attributes | ||
| class | PANEL.CHEM | |
| type | 1 Laboratory | |
| order vs. observation | LSD pnl WBC | |
History/Usage | ||
| first released | ||
| last updated | 2.68 | |
| last change type | ADD - added | |
Related Names | ||
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