Version 2.78

Part Description

LP310337-3   Cholestane-3-beta, 5-alpha, 6-beta triol
The oxidation products of cholesterol, particularly cholestane-3beta,5alpha,6beta-triol and 7-ketocholesterol, have proven to be sensitive and specific biomarkers for early detection of Niemann Pick type C (NPC) disease. NPC disease is a rare genetic disorder that results in the accumulation of cholesterol and other lipids internally. Patients often present in childhoold with hepatospenomegaly and central nervous system degeneration, although the presentation is broad and adult-onset psychiatric or visceral disease can occur. Mutations in the NPC1 or NPC2 gene are responsible, with the vast majority ocurring in NPC1. Prior to cholestane-3beta,5alpha,6beta-triol and 7-ketocholesterol, filipin staining of skin biopsy material was the assay of choice, although it was cumbersome, insensitive, and not widely avaialble PMID: 21518695. Source: Regenstrief LOINC

Fully-Specified Name

Component
Cholestane-3-beta, 5-alpha, 6-beta triol
Property
SCnc
Time
Pt
System
Bld
Scale
Qn
Method

Additional Names

Short Name
Chol-3b,5a,6b-triol Bld-sCnc
Display Name
Cholestane-3-beta, 5-alpha, 6-beta triol (Bld) [Moles/Vol]
Consumer Name Alpha Get Info
Cholestane-3-beta, 5-alpha, 6-beta triol, Blood

Basic Attributes

Class
CHEM
Type
Laboratory
First Released
Version 2.66
Last Updated
Version 2.66
Order vs. Observation
Observation

Member of these Panels

LOINC Long Common Name
92738-4 Cholestane-3-beta, 5-alpha, 6-beta triol and Lyso-sphingomyelin panel - Blood
92744-2 Hepatosplenomegaly due to lysosomal storage disorders screening panel - Blood

Member of these Groups Get Info

LOINC Group Group Name
LG50880-0 Cholestane-3-beta, 5-alpha, 6-beta triol|SCnc|Pt|ANYBldSerPl

Language Variants Get Info

Tag Language Translation
es-ES Spanish (Spain) Colestano-3-beta, 5-alfa, 6-beta triol:Concentración de sustancia:Punto temporal:Sangre:Qn:
Synonyms: Cuantitativo
es-MX Spanish (Mexico) Colestano-3-beta, 5-alfa, 6-beta triol:Concentración de sustancias:Punto temporal:Sangre:Cuantitativo:
fr-FR French (France) Choléstane-3-bêta, 5-alpha, 6-bêta triol:Moles/Volume:Ponctuel:Sang:Numérique:
it-IT Italian (Italy) Colestano-3-beta, 5-alfa, 6-beta triol:SCnc:Pt:Sangue:Qn:
Synonyms: Chimica Concentrazione di Sostanza Punto nel tempo (episodio) Sangue
zh-CN Chinese (China) 胆甾烷-3-beta, 5-alpha, 6-beta 三醇:物质的量浓度:时间点:全血:定量型:
Synonyms: Ⅲ B III α β 三 克分子浓度;克分子浓度(单位体积);摩尔浓度;摩尔浓度(单位体积);物质的量浓度(单位体积) 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 叁 可用数量表示的;定量性;数值型;数量型;连续数值型标尺 时刻;随机;随意;瞬间 胆甾烷-3-β, 5-α, 6-β 三醇;胆甾烷-3β, 5α, 6β 三醇;Cholestane-3-beta, 5-alpha, 6-beta triol 血;血液 贝塔 阿尔法

Example Units

Unit Source
nmol/mL Example UCUM Units

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

CodeSystem lookup
https://fhir.loinc.org/CodeSystem/$lookup?system=http://loinc.org&code=92756-6