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Part Description

LP268430-8   ITPA gene.g.9330C>A
The ITPA gene on chromosome 20q13 encodes the protein inosine triphosphate pyrophosphatase, which hydrolyzes inosine triphosphate (ITP) and deoxyinosine triphosphate. Variants in the ITPA gene lead to inosine triphosphate pyrophosphatase deficiency (ITPAD),which is characterized by the abnormal accumulation of ITP in erythrocytes. The accumulation of ITP can be beneficial in that it can substitute for guanosine triphosphate (GTP) in a reaction that leads to ATP production. PMID: 28480960 ITPA gene polymorphisms have been associated with anemia in patients with Hepatitis C who are on antiviral therapy with pegylated-interferon (PEG-IFN) and ribivarin (RBV). For rs1127354 (ITPA gene g.9330C>A), patients with the wild type CC genotype were more likely to develop anemia and had faster declines in hemoglobin compared to those with C/A or A/A genotypes. PMID: 26916827 Similarly, patients with the wild type AA genotype at rs7270101 (ITPA gene g.9381A>C) were more likely to experience a drop in hemoglobin compared to those with the A/C or C/C genotypes. PMID: 23933495 Source: Regenstrief LOINC

LOINC Names Get Info

Fully-Specified Name
ITPA gene.g.9330C>A:Type:Pt:Ser/Plas:Nom:Molgen
Long Common Name
ITPA gene g.9330C>A [Type] in Serum or Plasma by Molecular genetics method
Short Name
ITPA g.9330C>A SerPl
Display Name
ITPA g.9330C>A Molgen Nom
Consumer Name Alpha Get Info
ITPA g.9330C>A, Blood

Part Model Get Info

  • Component
    ITPA gene.g.9330C>A
    LP268430-8
    • Analyte
      ITPA gene.g.9330C>A
      LP268430-8
      • Component Numerator
        ITPA gene.g.9330C>A
        LP268430-8
        • Component Numerator Core
          ITPA gene.g.9330C>A
          LP268430-8
        • Component Numerator Core Suffix
          NULL
           
      • Component Denominator
        NULL
         
        • Component Denominator Core
          NULL
           
        • Component Denominator Core Suffix
          NULL
           
    • Challenge
      NULL
       
    • Adjustment
      NULL
       
    • Count
      NULL
       
  • Property
    Type
    LP6886-8
  • Time
    Pt
    LP6960-1
  • System
    Ser/Plas
    LP7576-4
    • System Core
      Ser/Plas
      LP7576-4
    • Super System
      NULL
       
  • Scale
    Nom
    LP7750-5
  • Method
    Molgen
    LP6404-0

Example Answer List: LL3026-3

Source: Regenstrief LOINC
AnswerCodeScoreAnswer ID
C/C (wild type)LA13521-2
C/A (heterozygous)LA21510-5
A/A (homozygous)LA19934-1

Basic Attributes

Class
MOLPATH.PHARMG
Type
Laboratory
First Released
Version 2.65
Last Updated
Version 2.65 (ADD)
Order vs. Observation
Both

Language Variants Get Info

TagLanguageTranslation
cs-CZCzech (Czechia)Gen ITPA g.9330C>A:Typ:Časový bod:Sérum/plazma:Nominální:Molekulární genetika
el-GRGreek (Greece)Γονίδιο ITPA.g.9330C>A:Type:Pt:Ορός/Πλάσμα:Nom:Μοριακή γενετική
Synonyms: A G MOLPATH MOLPATH.PHARMG Nom Pt Type Γονίδιο Γονίδιο ITPA.g.9330C>A Μοριακή γενετική Ορός Ορός/Πλάσμα Πλάσμα
es-MXSpanish (Mexico)Gen ITPA g.9330C> A:Tipo:Punto temporal:Suero o Plasma:Nominal:Genética molecular
es-ESSpanish (Spain)g.9330C>A del gen ITPA:Tipo:Punto temporal:Suero o Plasma:Nom:Genética molecular
fr-FRFrench (France)ITPA gène g.9330C>A:Type:Ponctuel:Sérum/Plasma:Résultat nominal:Biologie moléculaire
it-ITItalian (Italy)ITPA, gene.g.9330C>A:Tipo:Pt:Siero/Plasma:Nom:Molgen
Synonyms: Farmacogenomica Gene ITPA.g.9330C>A Genetica molecolare Patologia molecolare Plasma Punto nel tempo (episodio) Siero Siero o Plasma
pl-PLPolish (Poland)ITPA gen.g.9330C>A:typ:punkt w czasie:surowica lub osocze:skala nominalna:genetyka molekularna
Synonyms: diagnostyka molekularna Gen ITPA g.9330C>A wynik kategorialny
zh-CNChinese (China)ITPA 基因.g.9330C>A:类型:时间点:血清/血浆:名义型:分子遗传学类实验室方法
Synonyms: A 型 G 型 三磷酸肌苷焦磷酸酶;Inosine triphosphate pyrophosphatase;ITPA;C20orf37;HLC14-06-P;dJ794I6.3;My049;ITPase;NTPase 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 型 时刻;随机;随意;瞬间 血清或血浆 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=91137-0