92756-6

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

Active

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

LOINC Names Get Info

Fully-Specified Name: Cholestane-3-beta, 5-alpha, 6-beta triol:SCnc:Pt:Bld:Qn:
Long Common Name: Cholestane-3-beta, 5-alpha, 6-beta triol [Moles/volume] in Blood
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

Part Model Get Info

Component
Cholestane-3-beta, 5-alpha, 6-beta triol
LP310337-3
- Analyte
  Cholestane-3-beta, 5-alpha, 6-beta triol
  LP310337-3
  - Component Numerator
    Cholestane-3-beta, 5-alpha, 6-beta triol
    LP310337-3
    - Component Numerator Core
      Cholestane-3-beta, 5-alpha, 6-beta triol
      LP310337-3
    - Component Numerator Core Suffix
      NULL
  - Component Denominator
    NULL
    - Component Denominator Core
      NULL
    - Component Denominator Core Suffix
      NULL
- Challenge
  NULL
- Adjustment
  NULL
- Count
  NULL
Property
SCnc
LP6860-3
Time
Pt
LP6960-1
- Time Core
  Pt
  LP6960-1
- Time Modifier
  NULL
System
Bld
LP7057-5
- System Core
  Bld
  LP7057-5
- Super System
  NULL
Scale
Qn
LP7753-9
Method
NULL

Basic Attributes

Class: CHEM
Type: Laboratory
First Released: Version 2.66
Last Updated: Version 2.66 (ADD)
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
cs-CZ	Czech (Czechia)	Cholestan-3-beta,5-alfa,6-beta-triol:Látková koncentrace:Časový bod:Krev:Kvantitativní:
el-GR	Greek (Greece)	Χολεσταν-3β, 5α, 6β-τριόλη:SCnc:Pt:Αίμα:Qn: Synonyms: CHEM Pt Qn SCnc Αίμα Χολεσταν-3β, 5α, 6β-τριόλη
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
pl-PL	Polish (Poland)	Cholestan-3-beta, 5-alfa, 6-beta triol:stężenie molowe:punkt w czasie:krew:ilościowy:
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

LOINC Copyright

Copyright © Regenstrief Institute, Inc. All Rights Reserved. To the extent included herein, the LOINC table and LOINC codes are copyright © Regenstrief Institute, Inc. and the Logical Observation Identifiers Names and Codes (LOINC) Committee. See https://loinc.org/license for the full LOINC copyright and license.