92740-0  Oxysterols panel - Serum or PlasmaOxysterols panel - Serum or PlasmaOxysterols panel: -: Pt: Ser/​Plas: -:  

PANEL HIERARCHY  (view this panel in the LForms viewer)

  LOINC#   LOINC Name R/O/C  Cardinality  Ex. UCUM Units 
  92740-0   Oxysterols panel - Serum or PlasmaOxysterols panel - Serum or PlasmaOxysterols panel: -: Pt: Ser/​Plas: -:    
       92755-8   Cholestane-3-beta, 5-alpha, 6-beta triol [Moles/​volume] in Serum or PlasmaCholestane-3-beta, 5-alpha, 6-beta triol [Moles/​volume] in Serum or PlasmaCholestane-3-beta, 5-alpha, 6-beta triol: SCnc: Pt: Ser/​Plas: Qn:   nmol/mL 
       92764-0   7-Ketocholesterol [Moles/​volume] in Serum or Plasma7-Ketocholesterol [Moles/​volume] in Serum or Plasma7-Ketocholesterol: SCnc: Pt: Ser/​Plas: Qn:   nmol/mL 
       92747-5   Lyso-sphingomyelin [Moles/​volume] in Serum or PlasmaLyso-sphingomyelin [Moles/​volume] in Serum or PlasmaLyso-sphingomyelin: SCnc: Pt: Ser/​Plas: Qn:   nmol/mL 
 

NAME
  Fully Specified Name: 
Component   Property   Time   System   Scale   Method
Oxysterols panel  Pt  Ser/Plas 
  Long Common Name:  Oxysterols panel - Serum or Plasma
  Short Name:  Oxysterols Pnl SerPl
  Display Name:  Oxysterols panel

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   LP343622-9  Oxysterols panel 
Time   LP6960-1  Pt   [Point in time (spot)] 
System   LP7576-4  Ser/Plas   [Serum or Plasma] 
Scale   LP7747-1 
Fragments for synonyms   LP21059-8  Panel 

RELATED NAMES
  Chemistry Plasma SerPl
  Oxysterols Pnl Plsm SerPlas
  Pan Pnl Serum
  PANEL.CHEMISTRY Point in time Serum or plasma
  Panl Random SR
  Pl SerP  

CHANGE HISTORY
  Change Type: ADD

INTERNAL FIELDS
  Detail Page Created On: 6/20/2019 8:54:00 AM
  Long Common Name: Oxysterols panel - Serum or Plasma
  Shortname: Oxysterols Pnl SerPl
  Fully Specified Name: Oxysterols panel: -: Pt: Ser/Plas: -:
     
  Component Word Count: 2
  ID: 100283
  # of Panel Elements: 4
  Status (Raw): ACTIVE



Selected information about each LOINC that is part of this panel



92755-8   Cholestane-3-beta, 5-alpha, 6-beta triol [Moles/​volume] in Serum or PlasmaCholestane-3-beta, 5-alpha, 6-beta triol [Moles/​volume] in Serum or PlasmaCholestane-3-beta, 5-alpha, 6-beta triol: SCnc: Pt: Ser/​Plas: Qn:  

NAME
  Fully Specified Name: 
Component   Property   Time   System   Scale   Method
Cholestane-3-beta, 5-alpha, 6-beta triol  SCnc  Pt  Ser/Plas  Qn 
  Long Common Name:  Cholestane-3-beta, 5-alpha, 6-beta triol [Moles/volume] in Serum or Plasma
  Short Name:  Chol-3b,5a,6b-triol SerPl-sCnc
  Display Name:  Cholestane-3-beta, 5-alpha, 6-beta triol [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  
  92740-0 Oxysterols panel - Serum or Plasma
  92743-4 Hepatosplenomegaly due to lysosomal storage disorders screening panel - Serum or Plasma
  

MEMBER OF THESE EQUIVALENCE GROUPS
  LG50880-0  Cholestane-3-beta, 5-alpha, 6-beta triol|SCnc|Pt|ANYBldSerPl

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   LP7576-4  Ser/Plas   [Serum or Plasma] 
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 Level SerP
  5-alpha,6-beta-Dihydroxycholestanol Pl SerPl
  Alfa Plasma SerPlas
  B Plsm Serum
  Chemistry Point in time Serum or plasma
  Chol-3b,5a,6b-triol QNT SR
  Cholestane-3,5,6-triol Quan Substance concentration
  Cholestane-3beta,5alpha,6beta-triol Quant  
  COT Quantitative  
  III 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 8:54:01 AM
  Long Common Name: Cholestane-3-beta, 5-alpha, 6-beta triol [Moles/volume] in Serum or Plasma
  Shortname: Chol-3b,5a,6b-triol SerPl-sCnc
  Fully Specified Name: Cholestane-3-beta, 5-alpha, 6-beta triol: SCnc: Pt: Ser/Plas: Qn:
     
  Component Word Count: 8
  ID: 100298
  Status (Raw): ACTIVE


92764-0   7-Ketocholesterol [Moles/​volume] in Serum or Plasma7-Ketocholesterol [Moles/​volume] in Serum or Plasma7-Ketocholesterol: SCnc: Pt: Ser/​Plas: Qn:  

NAME
  Fully Specified Name: 
Component   Property   Time   System   Scale   Method
7-Ketocholesterol  SCnc  Pt  Ser/Plas  Qn 
  Long Common Name:  7-Ketocholesterol [Moles/volume] in Serum or Plasma
  Short Name:  7-Ketochol SerPl-sCnc
  Display Name:  7-Ketocholesterol [Moles/Vol]

PART DEFINITION/DESCRIPTION(S)
  Part: 7-Ketocholesterol
  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

PARTS

Part Type    Part No.  Part Name   
Component   LP310354-8  7-Ketocholesterol 
Property   LP6860-3  SCnc   [Substance Concentration] 
Time   LP6960-1  Pt   [Point in time (spot)] 
System   LP7576-4  Ser/Plas   [Serum or Plasma] 
Scale   LP7753-9  Qn 

RELATED NAMES
  3-beta-Hydroxycholest-5-en-7-one Plsm SerPl
  7-keto-cholesterol Point in time SerPlas
  7-oxo-cholesterol QNT Serum
  7-Oxocholesterol Quan Serum or plasma
  Chemistry Quant SR
  Level Quantitative Substance concentration
  Pl Random  
  Plasma SerP  

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 8:54:01 AM
  Long Common Name: 7-Ketocholesterol [Moles/volume] in Serum or Plasma
  Shortname: 7-Ketochol SerPl-sCnc
  Fully Specified Name: 7-Ketocholesterol: SCnc: Pt: Ser/Plas: Qn:
     
  Component Word Count: 2
  ID: 100307
  Status (Raw): ACTIVE


92747-5   Lyso-sphingomyelin [Moles/​volume] in Serum or PlasmaLyso-sphingomyelin [Moles/​volume] in Serum or PlasmaLyso-sphingomyelin: SCnc: Pt: Ser/​Plas: Qn:  

NAME
  Fully Specified Name: 
Component   Property   Time   System   Scale   Method
Lyso-sphingomyelin  SCnc  Pt  Ser/Plas  Qn 
  Long Common Name:  Lyso-sphingomyelin [Moles/volume] in Serum or Plasma
  Short Name:  LSM SerPl-sCnc
  Display Name:  Lyso-sphingomyelin [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  
  92740-0 Oxysterols panel - Serum or Plasma
  92743-4 Hepatosplenomegaly due to lysosomal storage disorders screening panel - Serum or Plasma
  

MEMBER OF THESE EQUIVALENCE GROUPS
  LG50878-4  Lyso-sphingomyelin|SCnc|Pt|ANYBldSerPl

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   LP7576-4  Ser/Plas   [Serum or Plasma] 
Scale   LP7753-9  Qn 

RELATED NAMES
  Chemistry QNT Serum or plasma
  Level Quan SPC
  LSM Quant SPH
  Lysosphingomyelin Quantitative Sphingosylphosphorylcholine
  Niemann-Pick Random SR
  Pl SerP Substance concentration
  Plasma SerPl  
  Plsm SerPlas  
  Point in time Serum  

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 8:54:01 AM
  Long Common Name: Lyso-sphingomyelin [Moles/volume] in Serum or Plasma
  Shortname: LSM SerPl-sCnc
  Fully Specified Name: Lyso-sphingomyelin: SCnc: Pt: Ser/Plas: Qn:
     
  Component Word Count: 2
  ID: 100290
  Status (Raw): ACTIVE