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| |
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
LOINC Copyright
Copyright © 2022 Regenstrief Institute, Inc. All Rights Reserved. To the extent included herein, the LOINC table and LOINC codes are copyright