92737-6  7-Alpha,12-alpha dihydroxycholest-4-en-3-one and 7-Alpha hydroxy-4-cholesten-3-one panel - Blood7-Alpha,12-alpha dihydroxycholest-4-en-3-one and 7-Alpha hydroxy-4-cholesten-3-one panel - Blood7-Alpha,12-alpha dihydroxycholest-4-en-3-one & 7-Alpha hydroxy-4-cholesten-3-one panel: -: Pt: Bld: -:  

PANEL HIERARCHY  (view this panel in the LForms viewer)

  LOINC#   LOINC Name R/O/C  Cardinality  Ex. UCUM Units 
  92737-6   7-Alpha,12-alpha dihydroxycholest-4-en-3-one and 7-Alpha hydroxy-4-cholesten-3-one panel - Blood7-Alpha,12-alpha dihydroxycholest-4-en-3-one and 7-Alpha hydroxy-4-cholesten-3-one panel - Blood7-Alpha,12-alpha dihydroxycholest-4-en-3-one & 7-Alpha hydroxy-4-cholesten-3-one panel: -: Pt: Bld: -:    
       92759-0   7-Alpha,12-alpha dihydroxycholest-4-en-3-one [Moles/​volume] in Blood7-Alpha,12-alpha dihydroxycholest-4-en-3-one [Moles/​volume] in Blood7-Alpha,12-alpha dihydroxycholest-4-en-3-one: SCnc: Pt: Bld: Qn:   nmol/mL 
       92762-4   7-Alpha hydroxy-4-cholesten-3-one [Moles/​volume] in Blood7-Alpha hydroxy-4-cholesten-3-one [Moles/​volume] in Blood7-Alpha hydroxy-4-cholesten-3-one: SCnc: Pt: Bld: 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  Bld 
  Long Common Name:  7-Alpha,12-alpha dihydroxycholest-4-en-3-one and 7-Alpha hydroxy-4-cholesten-3-one panel - Blood
  Short Name:  CTX Pnl Bld
  Display Name:  7-Alpha,12-alpha dihydroxycholest-4-en-3-one & 7-Alpha hydroxy-4-cholesten-3-one panel (Bld)

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   LP7057-5  Bld   [Blood] 
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 Blood PANEL.CHEMISTRY
  7a12aDiOHchol4en3one Cerebrotendinous xanthomatosis panel Panl
  7a-hydroxy-4-cholesten-3-one Chemistry Pnl
  7-alpha,12-alpha-dihydroxycholest-4-en-3-one CTX Pnl Point in time
  7alpha,12alpha-Dihydroxycholest-4-en-3-one Hydrox Random
  7a-OH-4-chol-3-one III WB
  7-hydroxy-4-cholesten-3-one OH Whole blood
  Alfa Pan  

CHANGE HISTORY
  Change Type: ADD

INTERNAL FIELDS
  Detail Page Created On: 6/20/2019 8:53:50 AM
  Long Common Name: 7-Alpha,12-alpha dihydroxycholest-4-en-3-one and 7-Alpha hydroxy-4-cholesten-3-one panel - Blood
  Shortname: CTX Pnl Bld
  Fully Specified Name: 7-Alpha,12-alpha dihydroxycholest-4-en-3-one & 7-Alpha hydroxy-4-cholesten-3-one panel: -: Pt: Bld: -:
     
  Component Word Count: 17
  ID: 100280
  # of Panel Elements: 3
  Status (Raw): ACTIVE



Selected information about each LOINC that is part of this panel



92759-0   7-Alpha,12-alpha dihydroxycholest-4-en-3-one [Moles/​volume] in Blood7-Alpha,12-alpha dihydroxycholest-4-en-3-one [Moles/​volume] in Blood7-Alpha,12-alpha dihydroxycholest-4-en-3-one: SCnc: Pt: Bld: Qn:  

NAME
  Fully Specified Name: 
Component   Property   Time   System   Scale   Method
7-Alpha,12-alpha dihydroxycholest-4-en-3-one  SCnc  Pt  Bld  Qn 
  Long Common Name:  7-Alpha,12-alpha dihydroxycholest-4-en-3-one [Moles/volume] in Blood
  Short Name:  7a12aDiOHchol4en3one Bld-sCnc
  Display Name:  7-Alpha,12-alpha dihydroxycholest-4-en-3-one (Bld) [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  
  92737-6 7-Alpha,12-alpha dihydroxycholest-4-en-3-one and 7-Alpha hydroxy-4-cholesten-3-one panel - Blood
  92744-2 Hepatosplenomegaly due to lysosomal storage disorders screening panel - Blood
  

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   LP7057-5  Bld   [Blood] 
Scale   LP7753-9  Qn 
Fragments for synonyms   LP21267-7 
Fragments for synonyms   LP28489-0  Alpha 

RELATED NAMES
  7a,12a-dihydroxy-4-cholesten-3-one III Random
  7a12aDiOHchol4en3one Level Substance concentration
  7-alpha,12-alpha-dihydroxycholest-4-en-3-one Point in time WB
  7alpha,12alpha-Dihydroxycholest-4-en-3-one QNT Whole blood
  Alfa Quan  
  Blood Quant  
  Chemistry Quantitative  

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 8:53:51 AM
  Long Common Name: 7-Alpha,12-alpha dihydroxycholest-4-en-3-one [Moles/volume] in Blood
  Shortname: 7a12aDiOHchol4en3one Bld-sCnc
  Fully Specified Name: 7-Alpha,12-alpha dihydroxycholest-4-en-3-one: SCnc: Pt: Bld: Qn:
     
  Component Word Count: 9
  ID: 100302
  Status (Raw): ACTIVE


92762-4   7-Alpha hydroxy-4-cholesten-3-one [Moles/​volume] in Blood7-Alpha hydroxy-4-cholesten-3-one [Moles/​volume] in Blood7-Alpha hydroxy-4-cholesten-3-one: SCnc: Pt: Bld: Qn:  

NAME
  Fully Specified Name: 
Component   Property   Time   System   Scale   Method
7-Alpha hydroxy-4-cholesten-3-one  SCnc  Pt  Bld  Qn 
  Long Common Name:  7-Alpha hydroxy-4-cholesten-3-one [Moles/volume] in Blood
  Short Name:  7a-OH-4-chol-3-one Bld-sCnc
  Display Name:  7-Alpha hydroxy-4-cholesten-3-one (Bld) [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  
  92737-6 7-Alpha,12-alpha dihydroxycholest-4-en-3-one and 7-Alpha hydroxy-4-cholesten-3-one panel - Blood
  92744-2 Hepatosplenomegaly due to lysosomal storage disorders screening panel - Blood
  

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   LP7057-5  Bld   [Blood] 
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 III Quantitative
  7a-OH-4-chol-3-one Level Random
  7-hydroxy-4-cholesten-3-one OH Substance concentration
  Alfa Point in time WB
  Blood QNT Whole blood
  Chemistry Quan  
  Hydrox Quant  

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 8:53:52 AM
  Long Common Name: 7-Alpha hydroxy-4-cholesten-3-one [Moles/volume] in Blood
  Shortname: 7a-OH-4-chol-3-one Bld-sCnc
  Fully Specified Name: 7-Alpha hydroxy-4-cholesten-3-one: SCnc: Pt: Bld: Qn:
     
  Component Word Count: 7
  ID: 100305
  Status (Raw): ACTIVE