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Part Description

LP310327-4   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. Source: Regenstrief LOINC

LOINC Names Get Info

Fully-Specified Name
7-Alpha,12-alpha dihydroxycholest-4-en-3-one:SCnc:Pt:Bld.dot:Qn:
Long Common Name
7-Alpha,12-alpha dihydroxycholest-4-en-3-one [Moles/volume] in DBS
Short Name
7a12aDiOHchol4en3one DBS-sCnc
Display Name
7-Alpha,12-alpha dihydroxycholest-4-en-3-one (DBS) [Moles/Vol]
Consumer Name Alpha Get Info
7-Alpha,12-alpha dihydroxycholest-4-en-3-one, Dried blood spot

Part Model Get Info

  • Component
    7-Alpha,12-alpha dihydroxycholest-4-en-3-one
    LP310327-4
    • Analyte
      7-Alpha,12-alpha dihydroxycholest-4-en-3-one
      LP310327-4
      • Component Numerator
        7-Alpha,12-alpha dihydroxycholest-4-en-3-one
        LP310327-4
        • Component Numerator Core
          7-Alpha,12-alpha dihydroxycholest-4-en-3-one
          LP310327-4
        • Component Numerator Core Suffix
          NULL
           
      • Component Denominator
        NULL
         
        • Component Denominator Core
          NULL
           
        • Component Denominator Core Suffix
          NULL
           
    • Challenge
      NULL
       
    • Adjustment
      NULL
       
    • Count
      NULL
       
  • Property
    SCnc
    LP6860-3
  • Time
    Pt
    LP6960-1
  • System
    Bld.dot
    LP21304-8
    • System Core
      Bld.dot
      LP21304-8
    • Super System
      NULL
       
  • Scale
    Qn
    LP7753-9
  • Method
    NULL
     

Basic Attributes

Class
CHEM
Type
Laboratory
First Released
Version 2.66
Last Updated
Version 2.66 (ADD)
Order vs. Observation
Observation

Member of these Panels

LOINCLong Common Name
92739-27-Alpha,12-alpha dihydroxycholest-4-en-3-one and 7-Alpha hydroxy-4-cholesten-3-one panel - DBS
92745-9Hepatosplenomegaly due to lysosomal storage disorders screening panel - DBS

Language Variants Get Info

TagLanguageTranslation
cs-CZCzech (Czechia)7-alfa,12-alfa-dihydroxycholest-4-en-3-on:Látková koncentrace:Časový bod:Suchá krevní kapka (DBS):Kvantitativní:
el-GRGreek (Greece)7-α,12-α διυδροξυ-χολεστ-4-εν-3-όνη:SCnc:Pt:Bld.dot:Qn:
Synonyms: 7-α,12-α διυδροξυ-χολεστ-4-εν-3-όνη Bld.dot CHEM Pt Qn SCnc Αίμα
es-ESSpanish (Spain)7-alfa, 12-alfa dihidroxicolest-4-en-3-ona:Concentración de sustancia:Punto temporal:gota de sangre (papel de filtro):Qn:
Synonyms: Cuantitativo
es-MXSpanish (Mexico)7-alfa, 12-alfa dihidroxicolest-4-en-3-ona:Concentración de sustancias:Punto temporal:DBS:Cuantitativo:
fr-FRFrench (France)7-alpha,12-alpha dihydroxycholest-4-en-3-one:Moles/Volume:Ponctuel:Sang buvard:Numérique:
it-ITItalian (Italy)7-Alfa,12-alfa diidrossicolest-4-en-3-one & 7-Alfa idrossi-4-colesten-3-one, panel:SCnc:Pt:Sangue.su carta da filtro:Qn:
Synonyms: Chimica Concentrazione di Sostanza Panel 7-Alfa,12-alfa diidrossicolest-4-en-3-one e 7-Alfa idrossi-4-colesten-3-one Punto nel tempo (episodio) Sangue Spot sangue secco
pl-PLPolish (Poland)7-Alfa, 12-alfa-dihydroksycholest-4-en-3-on:stężenie molowe:punkt w czasie:sucha kropla krwi:ilościowy:
zh-CNChinese (China)7-Alpha,12-alpha 二羟基胆甾-4-烯-3-酮:物质的量浓度:时间点:全血.斑点:定量型:
Synonyms: Ⅲ 7,12-二羟基-4-胆甾烯-3-酮;7α,12α-二羟基-4-胆甾烯-3-酮;7-α,12-α 二羟基胆甾-4-烯-3-酮;7α,12α 二羟基胆甾-4-烯-3-酮;7-Alpha,12-alpha dihydroxycholest-4-en-3-one;CAS 1254-03-1 III α 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 血;血液 阿尔法

Example Units

UnitSource
nmol/mLExample UCUM Units

LOINC Terminology Service (API) using HL7® FHIR® Get Info

CodeSystem lookup
https://fhir.loinc.org/CodeSystem/$lookup?system=http://loinc.org&code=92760-8