Version 2.80

Term 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]

Panel Hierarchy

Details for each LOINC in Panel LHC-Forms

LOINC Name R/O/C Cardinality Example UCUM Units
93703-7 Palmitoyl protein thioesterase 1 and Tripeptidyl peptidase 1 panel - Fibroblast
Indent74365-8 Palmitoyl protein thioesterase [Enzymatic activity/mass] in Fibroblast nmol/h/mg{protein}
Indent74576-0 Tripeptidyl peptidase I [Enzymatic activity/mass] in Fibroblast nmol/h/mg{protein}

Fully-Specified Name

Component
Palmitoyl protein thioesterase 1 & Tripeptidyl peptidase 1 panel
Property
-
Time
Pt
System
Fibroblasts
Scale
-
Method

Additional Names

Long Common Name
Palmitoyl protein thioesterase 1 and Tripeptidyl peptidase 1 panel - Fibroblast
Short Name
PPT1 + TPP1 Pnl Fib
Display Name
Palmitoyl protein thioesterase 1 and Tripeptidyl peptidase 1 panel (Fibroblast)
Consumer Name Alpha Get Info
Palmitoyl protein Thioesterase 1 and Tripeptidyl peptidase 1 panel, Fibroblast

Basic Attributes

Class
PANEL.CHEM
Type
Laboratory
First Released
Version 2.67
Last Updated
Version 2.67 (ADD)
Order vs. Observation
Order
Panel Type
Panel

Language Variants Get Info

Tag Language Translation
el-GR Greek (Greece) Πίνακας θειοεστεράσης πρωτεϊνών παλμιτοϋλίου 1 & τριπεπτιδυλικής πεπτιδάσης 1:-:Pt:Ινοβλάστες:-:
Synonyms: Θειοεστεράση πρωτεϊνών παλμιτοϋλίου Πίνακας θειοεστεράσης πρωτεϊνών παλμιτοϋλίου 1 & τριπεπτιδυλικής πεπτιδάσης 1 Πρωτεΐνη
es-ES Spanish (Spain) Panel de palmitoil proteína tioesterasa 1 y tripeptidil peptidasa 1:Propiedades mixtas (sólo paneles):Punto temporal:Fibroblastos:-:
es-MX Spanish (Mexico) Panel de palmitoil proteína tioesterasa 1 y tripéptidil peptidasa 1:-:Punto temporal:Fibroblasto:-:
fr-FR French (France) Palmitoyl protéine thioestérase 1 et tripeptidyl peptidase 1 panel:-:Ponctuel:Fibroblastes:-:
it-IT Italian (Italy) Palmitoil proteina tioesterasi 1 & Tripeptidil-peptidasi 1, panel:-:Pt:Fibroblasti:-:
Synonyms: Chimica Fibroblasto Panel palmitoil proteina tioesterasi 1 e tripeptidil-peptidasi 1 Punto nel tempo (episodio) Set di prescrizione chimica
nl-NL Dutch (Netherlands) palmitoylproteïnthioesterase 1 & tripeptidylpeptidase I panel:-:moment:fibroblast:-:
zh-CN Chinese (China) 棕榈酰蛋白硫酯酶 1 与三肽基肽酶 1 组套:-:时间点:成纤维细胞:-:
Synonyms: Ⅰ I PPT;棕榈基硫酯酶;软酯酰蛋白硫酯酶 PR;Prot;成分 - 化学 - 蛋白质类;蛋白;朊;蛋白质类;蛋白质类物质 化学;化学检验项目;化学检验项目类;化学类;化学试验;非刺激耐受型化学检验项目;非刺激耐受型化学检验项目类;非刺激耐受型化学试验;非刺激耐受型化学试验类 医嘱套餐 医嘱套餐类 医嘱套餐组 医嘱组 医嘱组.化学试验;化学组套（组合、医嘱组、套餐、套餐医嘱、医嘱套餐、组合申请、组合项目）;化学医嘱组类;医嘱组.化学;医嘱组.化学检验项目;医嘱组类.化学;医嘱组类.化学检验项目;医嘱组类.化学试验;实验室医嘱组类.化学;实验室医嘱组类.化学检验项目;实验室医嘱组类.化学试验 医嘱组合 医嘱组合类 医嘱组套 医嘱组套类 医嘱组类 多重;多重型;多重标尺类型;多重精度类型 套餐 套餐医嘱 套餐医嘱组 套餐医嘱组类 实验室医嘱套餐 实验室医嘱套餐类 实验室医嘱组 实验室医嘱组合类 实验室医嘱组套 实验室医嘱组套类 实验室套餐医嘱组 实验室套餐医嘱组类 实验室检验项目医嘱组合类 实验室检验项目组合类 时刻;随机;随意;瞬间 检验医嘱组合类 检验项目医嘱组合类 检验项目组合类 棕榈酰蛋白硫酯酶 1（软脂酰蛋白硫酯酶 1、PPT1）与三肽基肽酶 1（三肽基肽酶 I、TPP1）组套（组合、医嘱组、套餐、套餐医嘱、医嘱套餐、组合申请、组合项目） 纤维原细胞;纤维母细胞 组 组合 组合医嘱 组合类 组套

LOINC Terminology Service (API) using HL7® FHIR® Get Info

CodeSystem lookup
https://fhir.loinc.org/CodeSystem/$lookup?system=http://loinc.org&code=93703-7
Questionnaire definition
https://fhir.loinc.org/Questionnaire/?url=http://loinc.org/q/93703-7