" /> Palmitoyl protein thioesterase 1 & Tripeptidyl peptidase 1 panel:-:Pt:WBC:-: - CISMeF





Preferred Label : Palmitoyl protein thioesterase 1 & Tripeptidyl peptidase 1 panel:-:Pt:WBC:-:;

LOINC status : ACTIVE;

LOINC display name : Palmitoyl protein thioesterase 1 and Tripeptidyl peptidase 1 panel (WBC);

LOINC long common name : Palmitoyl protein thioesterase 1 and Tripeptidyl peptidase 1 panel - Leukocytes;

LOINC short name : PPT1 TPP1 Pnl WBC;

LOINC 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];

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07/05/2025


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