92741-8  Cholestane-3-beta, 5-alpha, 6-beta triol and Lyso-sphingomyelin panel - DBSCholestane-3-beta, 5-alpha, 6-beta triol and Lyso-sphingomyelin panel - DBSCholestane-3-beta, 5-alpha, 6-beta triol & Lyso-sphingomyelin panel: -: Pt: Bld.dot: -:  

PANEL HIERARCHY  (view this panel in the LForms viewer)

  LOINC#   LOINC Name R/O/C  Cardinality  Ex. UCUM Units 
  92741-8   Cholestane-3-beta, 5-alpha, 6-beta triol and Lyso-sphingomyelin panel - DBSCholestane-3-beta, 5-alpha, 6-beta triol and Lyso-sphingomyelin panel - DBSCholestane-3-beta, 5-alpha, 6-beta triol & Lyso-sphingomyelin panel: -: Pt: Bld.dot: -:    
       92757-4   Cholestane-3-beta, 5-alpha, 6-beta triol [Moles/​volume] in DBSCholestane-3-beta, 5-alpha, 6-beta triol [Moles/​volume] in DBSCholestane-3-beta, 5-alpha, 6-beta triol: SCnc: Pt: Bld.dot: Qn:   nmol/mL 
       92749-1   Lyso-sphingomyelin [Moles/​volume] in DBSLyso-sphingomyelin [Moles/​volume] in DBSLyso-sphingomyelin: SCnc: Pt: Bld.dot: Qn:   nmol/mL 
 

NAME
  Fully Specified Name: 
Component   Property   Time   System   Scale   Method
Cholestane-3-beta, 5-alpha, 6-beta triol & Lyso-sphingomyelin panel  Pt  Bld.dot 
  Long Common Name:  Cholestane-3-beta, 5-alpha, 6-beta triol and Lyso-sphingomyelin panel - DBS
  Short Name:  Oxysterols Pnl DBS
  Display Name:  Cholestane-3-beta, 5-alpha, 6-beta triol & Lyso-sphingomyelin panel (DBS)

TERM DEFINITION/DESCRIPTION(S)
  This panel is used to help diagnose Niemann-Pick disease types A, B, or C and/or monitor patients who have been previously diagnosed.
 
 

BASIC ATTRIBUTES
  Class/Type: PANEL.CHEM/Lab
  Panel Type: Panel
  First Released in Version: 2.66
  Last Updated in Version: 2.66
  Order vs. Obs.: Order
  Status: Active

PARTS

Part Type    Part No.  Part Name   
Component   LP310430-6  Cholestane-3-beta, 5-alpha, 6-beta triol & Lyso-sphingomyelin panel   [Cholestane-3-beta, 5-alpha, 6-beta triol and Lyso-sphingomyelin panel] 
Time   LP6960-1  Pt   [Point in time (spot)] 
System   LP21304-8  Bld.dot   [DBS] 
Scale   LP7747-1 
Fragments for synonyms   LP21059-8  Panel 
Fragments for synonyms   LP21267-7 
Fragments for synonyms   LP28489-0  Alpha 
Fragments for synonyms   LP28789-3  Beta 

RELATED NAMES
  5alpha,6beta-Dihydroxycholestanol Dried blood spot Panl
  5-alpha,6-beta-Dihydroxycholestanol Filter paper Pnl
  Alfa FP Point in time
  B III Random
  Blood LSM SPC
  Chemistry Lysosphingomyelin SPH
  Chol-3b,5a,6b-triol Niemann-Pick Sphingosylphosphorylcholine
  Cholestane-3,5,6-triol Oxysterols Panel WB
  Cholestane-3beta,5alpha,6beta-triol Oxysterols Pnl Whole blood
  COT Pan  
  DBS PANEL.CHEMISTRY  

CHANGE HISTORY
  Change Type: ADD

INTERNAL FIELDS
  Detail Page Created On: 6/20/2019 8:54:03 AM
  Long Common Name: Cholestane-3-beta, 5-alpha, 6-beta triol and Lyso-sphingomyelin panel - DBS
  Shortname: Oxysterols Pnl DBS
  Fully Specified Name: Cholestane-3-beta, 5-alpha, 6-beta triol & Lyso-sphingomyelin panel: -: Pt: Bld.dot: -:
     
  Component Word Count: 11
  ID: 100284
  # of Panel Elements: 3
  Status (Raw): ACTIVE



Selected information about each LOINC that is part of this panel



92757-4   Cholestane-3-beta, 5-alpha, 6-beta triol [Moles/​volume] in DBSCholestane-3-beta, 5-alpha, 6-beta triol [Moles/​volume] in DBSCholestane-3-beta, 5-alpha, 6-beta triol: SCnc: Pt: Bld.dot: Qn:  

NAME
  Fully Specified Name: 
Component   Property   Time   System   Scale   Method
Cholestane-3-beta, 5-alpha, 6-beta triol  SCnc  Pt  Bld.dot  Qn 
  Long Common Name:  Cholestane-3-beta, 5-alpha, 6-beta triol [Moles/volume] in DBS
  Short Name:  Chol-3b,5a,6b-triol DBS-sCnc
  Display Name:  Cholestane-3-beta, 5-alpha, 6-beta triol (DBS) [Moles/Vol]

PART DEFINITION/DESCRIPTION(S)
  Part: 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] .
 
 

BASIC ATTRIBUTES
  Class/Type: CHEM/Lab
  First Released in Version: 2.66
  Last Updated in Version: 2.66
  Order vs. Obs.: Observation
  Status: Active

MEMBER OF THESE PANELS     
  This section provides information about panels that contain this LOINC code.
  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
  

PARTS

Part Type    Part No.  Part Name   
Component   LP310337-3  Cholestane-3-beta, 5-alpha, 6-beta triol 
Property   LP6860-3  SCnc   [Substance Concentration] 
Time   LP6960-1  Pt   [Point in time (spot)] 
System   LP21304-8  Bld.dot   [DBS] 
Scale   LP7753-9  Qn 
Fragments for synonyms   LP21267-7 
Fragments for synonyms   LP28489-0  Alpha 
Fragments for synonyms   LP28789-3  Beta 

RELATED NAMES
  5alpha,6beta-Dihydroxycholestanol COT Quan
  5-alpha,6-beta-Dihydroxycholestanol DBS Quant
  Alfa Dried blood spot Quantitative
  B Filter paper Random
  Blood FP Substance concentration
  Chemistry III WB
  Chol-3b,5a,6b-triol Level Whole blood
  Cholestane-3,5,6-triol Point in time  
  Cholestane-3beta,5alpha,6beta-triol QNT  

EXAMPLE UNITS
  Unit  Source Type
  nmol/mL  EXAMPLE UCUM UNITS 

UNITS (INTERNAL DETAILS)
  Source Type:  EXAMPLE UCUM UNITS 
  Unit:  nmol/mL 

CHANGE HISTORY
  Change Type: ADD

INTERNAL FIELDS
  Detail Page Created On: 6/20/2019 8:54:03 AM
  Long Common Name: Cholestane-3-beta, 5-alpha, 6-beta triol [Moles/volume] in DBS
  Shortname: Chol-3b,5a,6b-triol DBS-sCnc
  Fully Specified Name: Cholestane-3-beta, 5-alpha, 6-beta triol: SCnc: Pt: Bld.dot: Qn:
     
  Component Word Count: 8
  ID: 100300
  Status (Raw): ACTIVE


92749-1   Lyso-sphingomyelin [Moles/​volume] in DBSLyso-sphingomyelin [Moles/​volume] in DBSLyso-sphingomyelin: SCnc: Pt: Bld.dot: Qn:  

NAME
  Fully Specified Name: 
Component   Property   Time   System   Scale   Method
Lyso-sphingomyelin  SCnc  Pt  Bld.dot  Qn 
  Long Common Name:  Lyso-sphingomyelin [Moles/volume] in DBS
  Short Name:  LSM DBS-sCnc
  Display Name:  Lyso-sphingomyelin (DBS) [Moles/Vol]

PART DEFINITION/DESCRIPTION(S)
  Part: 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] .
 
 

BASIC ATTRIBUTES
  Class/Type: CHEM/Lab
  First Released in Version: 2.66
  Last Updated in Version: 2.66
  Order vs. Obs.: Observation
  Status: Active

MEMBER OF THESE PANELS     
  This section provides information about panels that contain this LOINC code.
  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
  

PARTS

Part Type    Part No.  Part Name   
Component   LP310425-6  Lyso-sphingomyelin 
Property   LP6860-3  SCnc   [Substance Concentration] 
Time   LP6960-1  Pt   [Point in time (spot)] 
System   LP21304-8  Bld.dot   [DBS] 
Scale   LP7753-9  Qn 

RELATED NAMES
  Blood Lysosphingomyelin SPC
  Chemistry Niemann-Pick SPH
  DBS Point in time Sphingosylphosphorylcholine
  Dried blood spot QNT Substance concentration
  Filter paper Quan WB
  FP Quant Whole blood
  Level Quantitative  
  LSM Random  

EXAMPLE UNITS
  Unit  Source Type
  nmol/mL  EXAMPLE UCUM UNITS 

UNITS (INTERNAL DETAILS)
  Source Type:  EXAMPLE UCUM UNITS 
  Unit:  nmol/mL 

CHANGE HISTORY
  Change Type: ADD

INTERNAL FIELDS
  Detail Page Created On: 6/20/2019 8:54:04 AM
  Long Common Name: Lyso-sphingomyelin [Moles/volume] in DBS
  Shortname: LSM DBS-sCnc
  Fully Specified Name: Lyso-sphingomyelin: SCnc: Pt: Bld.dot: Qn:
     
  Component Word Count: 2
  ID: 100292
  Status (Raw): ACTIVE