92746-7  7-Alpha,12-alpha dihydroxycholest-4-en-3-one and 7-Alpha hydroxy-4-cholesten-3-one panel - Serum or Plasma7-Alpha,12-alpha dihydroxycholest-4-en-3-one and 7-Alpha hydroxy-4-cholesten-3-one panel - Serum or Plasma7-Alpha,12-alpha dihydroxycholest-4-en-3-one & 7-Alpha hydroxy-4-cholesten-3-one panel: -: Pt: Ser/​Plas: -:  

PANEL HIERARCHY  (view this panel in the LForms viewer)

  LOINC#   LOINC Name R/O/C  Cardinality  Ex. UCUM Units 
  92746-7   7-Alpha,12-alpha dihydroxycholest-4-en-3-one and 7-Alpha hydroxy-4-cholesten-3-one panel - Serum or Plasma7-Alpha,12-alpha dihydroxycholest-4-en-3-one and 7-Alpha hydroxy-4-cholesten-3-one panel - Serum or Plasma7-Alpha,12-alpha dihydroxycholest-4-en-3-one & 7-Alpha hydroxy-4-cholesten-3-one panel: -: Pt: Ser/​Plas: -:    
       92758-2   7-Alpha,12-alpha dihydroxycholest-4-en-3-one [Moles/​volume] in Serum or Plasma7-Alpha,12-alpha dihydroxycholest-4-en-3-one [Moles/​volume] in Serum or Plasma7-Alpha,12-alpha dihydroxycholest-4-en-3-one: SCnc: Pt: Ser/​Plas: Qn:   nmol/mL 
       92761-6   7-Alpha hydroxy-4-cholesten-3-one [Moles/​volume] in Serum or Plasma7-Alpha hydroxy-4-cholesten-3-one [Moles/​volume] in Serum or Plasma7-Alpha hydroxy-4-cholesten-3-one: SCnc: Pt: Ser/​Plas: Qn:   nmol/mL 
 

NAME
  Fully Specified Name: 
Component   Property   Time   System   Scale   Method
7-Alpha,12-alpha dihydroxycholest-4-en-3-one & 7-Alpha hydroxy-4-cholesten-3-one panel  Pt  Ser/Plas 
  Long Common Name:  7-Alpha,12-alpha dihydroxycholest-4-en-3-one and 7-Alpha hydroxy-4-cholesten-3-one panel - Serum or Plasma
  Short Name:  CTX Pnl SerPl
  Display Name:  7-Alpha,12-alpha dihydroxycholest-4-en-3-one & 7-Alpha hydroxy-4-cholesten-3-one panel

TERM DEFINITION/DESCRIPTION(S)
  This panel is used to help diagnose cerebrotendinous xanthomatosis (CTX) and/or monitor previously diagnosed patients that are receiving treatment for CTX.
 
 

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   LP310428-0  7-Alpha,12-alpha dihydroxycholest-4-en-3-one & 7-Alpha hydroxy-4-cholesten-3-one panel   [7-Alpha,12-alpha dihydroxycholest-4-en-3-one and 7-Alpha hydroxy-4-cholesten-3-one panel] 
Time   LP6960-1  Pt   [Point in time (spot)] 
System   LP7576-4  Ser/Plas   [Serum or Plasma] 
Scale   LP7747-1 
Fragments for synonyms   LP20785-9  Hydroxy 
Fragments for synonyms   LP21059-8  Panel 
Fragments for synonyms   LP21267-7 
Fragments for synonyms   LP28489-0  Alpha 

RELATED NAMES
  7a,12a-dihydroxy-4-cholesten-3-one CTX Pnl Pnl
  7a12aDiOHchol4en3one Hydrox Point in time
  7a-hydroxy-4-cholesten-3-one III Random
  7-alpha,12-alpha-dihydroxycholest-4-en-3-one OH SerP
  7alpha,12alpha-Dihydroxycholest-4-en-3-one Pan SerPl
  7a-OH-4-chol-3-one PANEL.CHEMISTRY SerPlas
  7-hydroxy-4-cholesten-3-one Panl Serum
  Alfa Pl Serum or plasma
  Cerebrotendinous xanthomatosis panel Plasma SR
  Chemistry Plsm  

CHANGE HISTORY
  Change Type: ADD

INTERNAL FIELDS
  Detail Page Created On: 6/20/2019 8:54:24 AM
  Long Common Name: 7-Alpha,12-alpha dihydroxycholest-4-en-3-one and 7-Alpha hydroxy-4-cholesten-3-one panel - Serum or Plasma
  Shortname: CTX Pnl SerPl
  Fully Specified Name: 7-Alpha,12-alpha dihydroxycholest-4-en-3-one & 7-Alpha hydroxy-4-cholesten-3-one panel: -: Pt: Ser/Plas: -:
     
  Component Word Count: 17
  ID: 100289
  # of Panel Elements: 3
  Status (Raw): ACTIVE



Selected information about each LOINC that is part of this panel



92758-2   7-Alpha,12-alpha dihydroxycholest-4-en-3-one [Moles/​volume] in Serum or Plasma7-Alpha,12-alpha dihydroxycholest-4-en-3-one [Moles/​volume] in Serum or Plasma7-Alpha,12-alpha dihydroxycholest-4-en-3-one: SCnc: Pt: Ser/​Plas: Qn:  

NAME
  Fully Specified Name: 
Component   Property   Time   System   Scale   Method
7-Alpha,12-alpha dihydroxycholest-4-en-3-one  SCnc  Pt  Ser/Plas  Qn 
  Long Common Name:  7-Alpha,12-alpha dihydroxycholest-4-en-3-one [Moles/volume] in Serum or Plasma
  Short Name:  7a12aDiOHchol4en3one SerPl-sCnc
  Display Name:  7-Alpha,12-alpha dihydroxycholest-4-en-3-one [Moles/Vol]

PART DEFINITION/DESCRIPTION(S)
  Part: 7-Alpha,12-alpha dihydroxycholest-4-en-3-one
  The detection of plasma or blood ketosterol bile acid precursors, specifically 7alpha-hydroxy-4-cholesten-3-one, 7alpha,12alpha-dihydroxy-4-cholesten-3-one and 7alpha,12alpha-dihydroxy-5beta-cholestan-3-one, is sensitive for the diagnosis of cerebrotendinous xanthomatosis (CTX), a rare autosomal recessive disorder of bile acid synthesis that causes neurodegeneration and premature death. CTX is associated with a deficiency in the mitochondria enzyme, sterol 27-hydroxylase (CYP27A1), which converts cholesterol to bile acids. Symptoms include diarrhea and juvenile cataracts in children, progressing to tendon and cerebral xanthomas with neurological deterioration and death. Because there is an effective therapy (oral replacement of chenodeoxycholic acid, the main bile acid deficient in CTX), it is critical to diagnose as early as possible. Prior to the more sensitive ketosterol bile acid precursors, diagnosis had depended on measurement of elevated 5-alpha-cholestanol [PMID:24769274] .
 
 

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  
  92743-4 Hepatosplenomegaly due to lysosomal storage disorders screening panel - Serum or Plasma
  92746-7 7-Alpha,12-alpha dihydroxycholest-4-en-3-one and 7-Alpha hydroxy-4-cholesten-3-one panel - Serum or Plasma
  

MEMBER OF THESE EQUIVALENCE GROUPS
  LG50881-8  7-Alpha,12-alpha dihydroxycholest-4-en-3-one|SCnc|Pt|ANYBldSerPl

PARTS

Part Type    Part No.  Part Name   
Component   LP310327-4  7-Alpha,12-alpha dihydroxycholest-4-en-3-one 
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 

RELATED NAMES
  7a,12a-dihydroxy-4-cholesten-3-one Plasma SerPl
  7a12aDiOHchol4en3one Plsm SerPlas
  7-alpha,12-alpha-dihydroxycholest-4-en-3-one Point in time Serum
  7alpha,12alpha-Dihydroxycholest-4-en-3-one QNT Serum or plasma
  Alfa Quan SR
  Chemistry Quant Substance concentration
  III Quantitative  
  Level Random  
  Pl 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 8:54:25 AM
  Long Common Name: 7-Alpha,12-alpha dihydroxycholest-4-en-3-one [Moles/volume] in Serum or Plasma
  Shortname: 7a12aDiOHchol4en3one SerPl-sCnc
  Fully Specified Name: 7-Alpha,12-alpha dihydroxycholest-4-en-3-one: SCnc: Pt: Ser/Plas: Qn:
     
  Component Word Count: 9
  ID: 100301
  Status (Raw): ACTIVE


92761-6   7-Alpha hydroxy-4-cholesten-3-one [Moles/​volume] in Serum or Plasma7-Alpha hydroxy-4-cholesten-3-one [Moles/​volume] in Serum or Plasma7-Alpha hydroxy-4-cholesten-3-one: SCnc: Pt: Ser/​Plas: Qn:  

NAME
  Fully Specified Name: 
Component   Property   Time   System   Scale   Method
7-Alpha hydroxy-4-cholesten-3-one  SCnc  Pt  Ser/Plas  Qn 
  Long Common Name:  7-Alpha hydroxy-4-cholesten-3-one [Moles/volume] in Serum or Plasma
  Short Name:  7a-OH-4-chol-3-one SerPl-sCnc
  Display Name:  7-Alpha hydroxy-4-cholesten-3-one [Moles/Vol]

PART DEFINITION/DESCRIPTION(S)
  Part: 7-Alpha hydroxy-4-cholesten-3-one
  The detection of plasma or blood ketosterol bile acid precursors, specifically 7alpha-hydroxy-4-cholesten-3-one, 7alpha,12alpha-dihydroxy-4-cholesten-3-one and 7alpha,12alpha-dihydroxy-5beta-cholestan-3-one, is sensitive for the diagnosis of cerebrotendinous xanthomatosis (CTX), a rare autosomal recessive disorder of bile acid synthesis that causes neurodegeneration and premature death. CTX is associated with a deficiency in the mitochondria enzyme, sterol 27-hydroxylase (CYP27A1), which converts cholesterol to bile acids. Symptoms include diarrhea and juvenile cataracts in children, progressing to tendon and cerebral xanthomas with neurological deterioration and death. Because there is an effective therapy (oral replacement of chenodeoxycholic acid, the main bile acid deficient in CTX), it is critical to diagnose as early as possible. Prior to the more sensitive ketosterol bile acid precursors, diagnosis had depended on measurement of elevated 5-alpha-cholestanol [PMID:24769274] .
 
 

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  
  92743-4 Hepatosplenomegaly due to lysosomal storage disorders screening panel - Serum or Plasma
  92746-7 7-Alpha,12-alpha dihydroxycholest-4-en-3-one and 7-Alpha hydroxy-4-cholesten-3-one panel - Serum or Plasma
  

MEMBER OF THESE EQUIVALENCE GROUPS
  LG50882-6  7-Alpha hydroxy-4-cholesten-3-one|SCnc|Pt|ANYBldSerPl

PARTS

Part Type    Part No.  Part Name   
Component   LP310330-8  7-Alpha hydroxy-4-cholesten-3-one 
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   LP20785-9  Hydroxy 
Fragments for synonyms   LP21267-7 
Fragments for synonyms   LP28489-0  Alpha 

RELATED NAMES
  7a-hydroxy-4-cholesten-3-one Pl SerP
  7a-OH-4-chol-3-one Plasma SerPl
  7-hydroxy-4-cholesten-3-one Plsm SerPlas
  Alfa Point in time Serum
  Chemistry QNT Serum or plasma
  Hydrox Quan SR
  III Quant Substance concentration
  Level Quantitative  
  OH 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 8:54:25 AM
  Long Common Name: 7-Alpha hydroxy-4-cholesten-3-one [Moles/volume] in Serum or Plasma
  Shortname: 7a-OH-4-chol-3-one SerPl-sCnc
  Fully Specified Name: 7-Alpha hydroxy-4-cholesten-3-one: SCnc: Pt: Ser/Plas: Qn:
     
  Component Word Count: 7
  ID: 100304
  Status (Raw): ACTIVE