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Term Description

This term was created for, but is not limited in use to, the Life Technologies' SNaPshot assay, which can detect up to 37 specific mutations in the SI gene.

Part Description

LP189692-9   SI gene
The SI gene is located on chromosome 3q26.1 and encodes sucrase-isomaltase, an enzyme located in the small intestine brush-border membrane that catalyzes the hydrolysis of dietary sucrose and some of the products of starch digestion. Mutations in the SI gene are responsible for congenital sucrase-isomaltase deficiency (CSID), a disorder characterized by secretory osmotic diarrhea and failure to thrive due to the malabsorption of sucrose and maltose. Different SI gene mutations result in different phenotypes depending on whether the mutation disrupts enzyme transport or function. Infants can present with severe diarrhea and failure to thrive, toddlers and children may have chronic diarrhea without failure to thrive, and adults may present with symptoms of irritable bowel syndrome. CSID is primarily treated with dietary restriction, and adjuvant enzyme replacement therapy has also been shown to be effective. [OMIM: 222900] CSID follows an autosomal recessive inheritance pattern and the prevalence is approximately 1 in 5,000 people of European descent and as high as 1 in 20 people in the native populations of Greenland, Alaska, and Canada. [MedlinePlus Condition: congenital-sucrase-isomaltase-deficiency] Source: Regenstrief LOINC, OMIM: 222900

LOINC Names Get Info

Fully-Specified Name
SI gene mutations:Prid:Pt:Bld/Tiss:Nom:Targeted gene mutation analysis
Long Common Name
SI gene mutations found [Identifier] in Blood or Tissue by Targeted gene mutation analysis Nominal
Short Name
SI gene Mut Bld/T Mut Anl
Display Name
SI gene mutations found Targeted gene mutation analysis Nom (Bld/Tiss)
Consumer Name Alpha Get Info
SI gene mutations found, Blood or tissue specimen

Part Model Get Info

  • Component
    SI gene mutations
    LP452182-1
    • Analyte
      SI gene mutations
      LP452182-1
      • Component Numerator
        SI gene mutations
        LP452182-1
      • Component Denominator
        NULL
         
        • Component Denominator Core
          NULL
           
        • Component Denominator Core Suffix
          NULL
           
    • Challenge
      NULL
       
    • Adjustment
      NULL
       
    • Count
      NULL
       
  • Property
    Prid
    LP6850-4
  • Time
    Pt
    LP6960-1
  • System
    Bld/Tiss
    LP7061-7
    • System Core
      Bld/Tiss
      LP7061-7
    • Super System
      NULL
       
  • Scale
    Nom
    LP7750-5
  • Method
    Targeted gene mutation analysis
    LP95475-7

Example Answer List: LL3278-0

Source: Laboratory Corporation of America
AnswerCodeScoreAnswer ID
c.1730T>GLA22719-1
c.1859T>CLA22722-5
c.3218G>ALA22720-9
c.3686G>ALA22721-7
c.5234T>GLA22718-3

Basic Attributes

Class
MOLPATH
Type
Laboratory
First Released
Version 2.52
Last Updated
Version 2.83 (NAM)
Change Reason
Based on LOINC Committee review (June 2016), "targeted" was added to the Component to clarify that this test is looking for a specific set of mutations as described in the LOINC User Guide under the Molecular Genetics section.
Order vs. Observation
Both
Common Test Rank Get Info
15274

Language Variants Get Info

TagLanguageTranslation
cs-CZCzech (Czechia)Gen SI cílená mutační analýza:Přítomnost nebo identita:Časový bod:Krev/tkáň:Nominální:Molekulární genetika
el-GRGreek (Greece)Γονίδιο SI στοχευμένη ανάλυση μεταλλάξεων:Prid:Pt:Αίμα/Ιστός:Nom:Μοριακή γενετική
Synonyms: MOLPATH Nom Prid Pt Αίμα Αίμα/Ιστός Γονίδιο Γονίδιο SI Ιστός Μοριακή γενετική στοχευμένη ανάλυση μεταλλάξεων
es-MXSpanish (Mexico)Análisis de mutaciones dirigidas al gen SI:Presencia o identidad:Punto temporal:Sangre o tejido:Nominal:Genética molecular
es-ESSpanish (Spain)Gen SI Analisis de mutaciones:Presencia o identidad:Punto temporal:Sangre o tejido:Nom:Genética molecular
fr-FRFrench (France)SI gène mutation cible trouvée:Identification:Ponctuel:Sang/Tissu:Résultat nominal:Biologie moléculaire
it-ITItalian (Italy)SI, gene analisi di mutazione mirata:Prid:Pt:Sangue/Tess:Nom:Molgen
Synonyms: Gene SI Genetica molecolare Patologia molecolare Presenza o Identità Punto nel tempo (episodio) Sangue Sangue o Tessuto Tessuto & Strisci
nl-NLDutch (Netherlands)SI-gen doelgerichte mutatie-analyse:identificator:moment:bloed of weefsel:nominaal:moleculair genetisch onderzoek
Synonyms: molgen SI gen targeted
pl-PLPolish (Poland)SI gen ukierunkowana analiza mutacji:obecność lub identyfikacja:punkt w czasie:krew lub tkanka:skala nominalna:genetyka molekularna
Synonyms: Analiza mutacji genu SI diagnostyka molekularna Gen SI wynik kategorialny
tr-TRTurkish (Turkey)SI geni Mutasyon analizi:MevcKimlik:Zmlı:Kan/Dk:Snf:Molgen
zh-CNChinese (China)SI 基因 突变分析:存在与否或特征标识:时间点:全血/组织:名义型:分子遗传学类实验室方法
Synonyms: 全血或组织;血液/组织;血液或组织 分子病理学;分子病理学试验 分子遗传学;分子遗传学方法;分子遗传学类方法;分子遗传学类检验方法;包括 RFL、PCR 及其他方法在内，用于在分子基础上检测遗传属性的方法的大类;聚合酶链反应;聚合酶链式反应 分类型应答;分类型结果;名义性;名称型;名词型;名词性;标称性;没有自然次序的名义型或分类型应答 基因突变分析 存在;存在与否;特征标识;身份;身份标识 时刻;随机;随意;瞬间 未作说明的组织;组织;组织 & 涂片 蔗糖酶-异麦芽糖酶 (Alpha-葡萄糖苷酶);蔗糖酶-异麦芽糖酶 (α-葡糖苷酶);Sucrase-Isomaltase (Alpha-Glucosidase) 血;血液 遗传基因;遗传因子;吉恩;生物基因

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

CodeSystem lookup
https://fhir.loinc.org/CodeSystem/$lookup?system=http://loinc.org&code=77200-4