93704-5
LOINC Code
| LOINC code | 93704-5 | ||||
|---|---|---|---|---|---|
| name | |||||
| description | This panel is used to help differentiate between forms of neuronal ceroid lipufuscinoses (CLNs), which are progressive, neurodegenerative lysosomal storage diseases. CLN1 and CLN2 are caused by mutations in the PPT1 gene, which encodes palmitoyl protein thioesterase 1, and TPP1, which encodes tripeptidyl peptidase 1, respectively. Both are associated with seizures, dementia, and vision loss. [UniProt: O14773][UniProt: P50897] | ||||
| status | ACTIVE | ||||
Fully-Specified Name | |||||
| component | Palmitoyl protein thioesterase 1 & Tripeptidyl peptidase 1 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 | - | ||||
| method | |||||
Additional Names | |||||
| short name | Chemistry; i; Leukocytes; Pan; PANEL.CHEMISTRY; Panl; Pnl; Point in time; PPT; PPT1 + TPP1 Pnl; PR; Prot; Random; WBCs; White blood cells | ||||
Basic Attributes | |||||
| class | PANEL.CHEM | ||||
| type | 1 Laboratory | ||||
| order vs. observation | PPT1 + TPP1 Pnl | ||||
Panel Components | |||||
| |||||
History/Usage | |||||
| first released | |||||
| last updated | 2.67 | ||||
| last change type | ADD - added | ||||
Related Names | |||||
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