Palmitoyl protein thioesterase 1 and Tripeptidyl peptidase 1 panel - Fibroblast 93703-7
LOINC Code
| LOINC code | 93703-7 | ||||
|---|---|---|---|---|---|
| name | Palmitoyl protein thioesterase 1 and Tripeptidyl peptidase 1 panel - Fibroblast | ||||
| 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 | Fibroblasts | ||||
| scale | - | ||||
| method | |||||
Additional Names | |||||
| short name | PPT1 + TPP1 Pnl Fib | ||||
Basic Attributes | |||||
| class | PANEL.CHEM | ||||
| type | 1 Laboratory | ||||
| order vs. observation | Order | ||||
Panel Components | |||||
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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 | 2.67 | ||||
| last change type | ADD - added | ||||
Related Names | |||||
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