LOINC
Version 2.73

92756-6Cholestane-3-beta, 5-alpha, 6-beta triol [Moles/volume] in BloodActive

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
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

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

Language Variants Get Info

zh-CNChinese (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:
fr-FRFrench (France)
Choléstane-3-bêta, 5-alpha, 6-bêta triol:Moles/Volume:Ponctuel:Sang:Numérique:
it-ITItalian (Italy)
Colestano-3-beta, 5-alfa, 6-beta triol:SCnc:Pt:Sangue:Qn:
es-MXSpanish (Mexico)
Colestano-3-beta, 5-alfa, 6-beta triol:Concentración de sustancias:Punto temporal:Sangre:Cuantitativo:
es-ESSpanish (Spain)
Colestano-3-beta, 5-alfa, 6-beta triol:Concentración de sustancia:Punto temporal:Sangre:Qn:

Example Units

Unit Source
nmol/mL Example UCUM Units

LOINC FHIR® API Example - CodeSystem Request Get Info

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