Version 2.78

92757-4 Cholestane-3-beta, 5-alpha, 6-beta triol [Moles/volume] in DBS

Part Descriptions

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.dot
Scale
Qn
Method

Additional Names

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

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
92741-8 Cholestane-3-beta, 5-alpha, 6-beta triol and Lyso-sphingomyelin panel - DBS
92745-9 Hepatosplenomegaly due to lysosomal storage disorders screening panel - DBS

Language Variants Get Info

Tag Language Translation
es-ES Spanish (Spain) Colestano-3-beta, 5-alfa, 6-beta triol:Concentración de sustancia:Punto temporal:gota de sangre (papel de filtro):Qn:
Synonyms: Cuantitativo
es-MX Spanish (Mexico) Colestano-3-beta, 5-alfa, 6-beta triol:Concentración de sustancias:Punto temporal:DBS:Cuantitativo:
fr-FR French (France) Choléstane-3-bêta, 5-alpha, 6-bêta triol:Moles/Volume:Ponctuel:Sang buvard:Numérique:
it-IT Italian (Italy) Colestano-3-beta, 5-alfa, 6-beta triol:SCnc:Pt:Sangue.su carta da filtro:Qn:
Synonyms: Chimica Concentrazione di Sostanza Punto nel tempo (episodio) Sangue Spot sangue secco
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.斑点: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) 全血斑点(滤纸);滤纸;血液.斑点;血液斑点(滤纸) 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

92749-1 Lyso-sphingomyelin [Moles/volume] in DBS

Part Descriptions

LP310425-6   Lyso-sphingomyelin
Lyso-sphingomyelin (LSM, sphingosylphosphorylcholine) is a biomarker for Niemann-Pick disease types A, B and C, genetically distinct metabolic disorders. Niemann-Pick types A/B and C share clinical features including hepatospenomegaly and specific neurological symptoms. Types A and B are caused by mutations in the SMPD1 gene (or acid sphingomyelinase), while type C is caused by mutations in the NPC1 or NPC2 genes. Both type A/B and C Niemann-Pick show increased plasma levels of LSM and/or its analog Lyso-sphingomyelin509 (LSM509), and it has been suggested that Niemann-Pick A and B can be biochemically distinguished from C by comparing plasma levels of LSM and LSM509. Niemann-Pick type C can also be specifically diagnosed by the levels of oxysterols in blood or plasma PMID: 28259515. Source: Regenstrief LOINC

Fully-Specified Name

Component
Lyso-sphingomyelin
Property
SCnc
Time
Pt
System
Bld.dot
Scale
Qn
Method

Additional Names

Short Name
LSM DBS-sCnc
Display Name
Lyso-sphingomyelin (DBS) [Moles/Vol]
Consumer Name Alpha Get Info
Lyso-sphingomyelin, Dried blood spot

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
92741-8 Cholestane-3-beta, 5-alpha, 6-beta triol and Lyso-sphingomyelin panel - DBS
92745-9 Hepatosplenomegaly due to lysosomal storage disorders screening panel - DBS

Language Variants Get Info

Tag Language Translation
es-ES Spanish (Spain) Lisoesfingomielina:Concentración de sustancia:Punto temporal:gota de sangre (papel de filtro):Qn:
Synonyms: Cuantitativo
es-MX Spanish (Mexico) Liso-esfingomielina:Concentración de sustancias:Punto temporal:DBS:Cuantitativo:
fr-FR French (France) Lyso-sphingomyéline:Moles/Volume:Ponctuel:Sang buvard:Numérique:
it-IT Italian (Italy) Liso-sfingomielina:SCnc:Pt:Sangue.su carta da filtro:Qn:
Synonyms: Chimica Concentrazione di Sostanza Punto nel tempo (episodio) Sangue Spot sangue secco
zh-CN Chinese (China) 溶血鞘磷脂:物质的量浓度:时间点:全血.斑点:定量型:
Synonyms: 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) 全血斑点(滤纸);滤纸;血液.斑点;血液斑点(滤纸) 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 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 神经磷脂;神经鞘骨磷脂;鞘磷脂 神经鞘氨醇磷酸胆碱;Sphingosylphosphorylcholine;CAS 82970-80-7 血;血液

Example Units

Unit Source
nmol/mL Example UCUM Units