93703-7
LaboratoryPalmitoyl protein thioesterase 1 and Tripeptidyl peptidase 1 panel - Fibroblast
Definition
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]
LOINC 6-Axis Classification
Component
Palmitoyl protein thioesterase 1 & Tripeptidyl peptidase 1 panel
Property
-
Time Aspect
Pt
System
Fibroblasts
Scale Type
-
Method Type
N/A
Details
Class
PANEL.CHEM
Order/Observation
Order
Short Name
PPT1 + TPP1 Pnl Fib
Display Name
Palmitoyl protein thioesterase 1 and Tripeptidyl peptidase 1 panel (Fibroblast)
Related Names
Frequently Asked Questions
What is LOINC code 93703-7?
LOINC code 93703-7 identifies "Palmitoyl protein thioesterase 1 and Tripeptidyl peptidase 1 panel - Fibroblast". 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]
What does 93703-7 measure?
This code measures Palmitoyl protein thioesterase 1 & Tripeptidyl peptidase 1 panel in Fibroblasts. It belongs to the PANEL.CHEM class in the LOINC classification.
What is LOINC?
LOINC (Logical Observation Identifiers Names and Codes) is a universal standard for identifying laboratory and clinical observations. It is maintained by the Regenstrief Institute and used worldwide for health data exchange.