Version 2.78

Part Descriptions

LP150045-5   Sequencing
Sequencing is a method used to determine the sequence of individual genes, larger genetic regions (i.e. clusters of genes or operons), full chromosomes or entire genomes. Historically, most sequencing has been performed using the chain termination method developed by Frederick Sanger in 1977. PMID: 271968 Sequencing technologies have improved dramatically, making them cheaper, faster, and more accurate. Next-generation sequencing (NGS), also known as high-throughput sequencing, deep sequencing, and second-generation sequencing, is a type of technology that uses parallel sequencing of multiple small fragments of DNA to determine sequence. This "high-throughput" technology has increased the speed and amount of DNA sequenced at a significantly reduced cost. PMID: 18576944 Several NGS platforms (ie, sequencing instruments and associated reagents) have been developed. Third-generation sequencing is another methodology currently under development that uses parallel sequencing similar to NGS. In contrast to NGS, third-generation sequencing uses single DNA molecules rather than amplified DNA as a template. PMID: 20858600 Source: Regenstrief LOINC

LP33553-6   TPMT gene
TPMT (thiopurine methyltransferase) gene mutation determines a patient's ability to metabolize the thiopurine class of drugs. The activity of TPMT is genetically regulated. Source: Regenstrief Institute

LP33553-6   TPMT gene
The TPMT gene (thiopurine S-methyltransferase) [HGNC Gene ID:12014] is located on chromosome 6p22.3. This gene encodes the enzyme that metabolizes thiopurine drugs via S-adenosyl-L-methionine as the S-methyl donor and S-adenosyl-L-homocysteine as a byproduct. Thiopurine drugs such as 6-mercaptopurine are used as chemotherapeutic agents. Genetic polymorphisms that affect this enzymatic activity are correlated with variations in sensitivity and toxicity to such drugs within individuals, causing thiopurine S-methyltransferase deficiency. Related pseudogenes have been identified on chromosomes 3, 18 and X. [provided by RefSeq, Aug 2014] [NCBI Gene ID:7172] Eight known mutations in variants TPMT*2 through *7 account for 90-95% of cases of TPMT deficiency, with four of them, all subtypes of TPMT*3, accounting for 75%. The 8 mutations are as follows: c.238G>C (TPMT*2), c.460G>A and c.719A>G (TPMT*3A), c.460G>A (TPMT*3B), c.719A>G (TPMT*3C), intron 9/exon10 splice junction mutation (TPMT*4), c.146C>T (TPMT*5), c.539A>T (TPMT*6), c.681T>G (TPMT*7). PMID: 11067806 Source: National Center for Biotechnology Information (NCBI) Gene

Fully-Specified Name

Component
TPMT gene targeted mutation analysis
Property
Prid
Time
Pt
System
Bld/Tiss
Scale
Nom
Method
Sequencing

Additional Names

Long Common Name
TPMT gene mutations found [Identifier] in Blood or Tissue by Sequencing Nominal
Short Name
TPMT gene Mut Anl Bld/T Seq
Display Name
TPMT gene targeted mutation analysis Sequencing Nom (Bld/Tiss)
Consumer Name Alpha Get Info
TPMT gene targeted mutation analysis, Blood or tissue specimen

Example Answer List: LL3715-1

Source: Hong Kong Hospital Authority
Answer Code Score Answer ID
c.238G>C

TPMT *2 allele

 LA24547-4
c.460G>A and c.719A>G

TPMT *3A allele

 LA24548-2
c.460G>A

TPMT *3B allele

 LA24549-0
c.719A>G

TPMT *3C allele

 LA24550-8
intron 9/exon10 splice junction mutation

TPMT *4 allele

 LA24551-6

Basic Attributes

Class
MOLPATH.PHARMG
Type
Laboratory
First Released
Version 2.56
Last Updated
Version 2.67
Change Reason
Release 2.67: CLASS: Updated to MOLPATH.PHARMG, the more representative LOINC Class for this concept.
Order vs. Observation
Both

Language Variants Get Info

Tag Language Translation
es-ES Spanish (Spain) Gen TPMT Analisis de mutaciones:Presencia o identidad:Punto temporal:Sangre o tejido:Nom:Secuenciación
es-MX Spanish (Mexico) Análisis de mutaciones dirigidas al gen TPMT:Presencia o identidad:Punto temporal:Sangre o tejido:Nominal:Secuenciación
fr-CA French (Canada) Gène TPMT ciblé, analyse de la mutation:Présence ou identité:Temps ponctuel:Sang/Tissu:Nominal:Séquençage
fr-FR French (France) TPMT gène mutation cible trouvée:Identification:Ponctuel:Sang/Tissu:Résultat nominal:Séquençage
it-IT Italian (Italy) TPMT, gene analisi di mutazione mirata:Prid:Pt:Sangue/Tess:Nom:Sequenziamento
Synonyms: Farmacogenomica Gene TPMT Patologia molecolare Presenza o Identità Punto nel tempo (episodio) Sangue Sangue o Tessuto Tessuto & Strisci
nl-NL Dutch (Netherlands) TPMT-gen doelgerichte mutatie-analyse:identificator:moment:bloed of weefsel:nominaal:sequencing
Synonyms: targeted TPMT gen
tr-TR Turkish (Turkey) TPMT geni Mutasyon analizi:MevcKimlik:Zmlı:Kan/Dk:Snf:Sekanslama
Synonyms: Dizi tayini
zh-CN Chinese (China) TPMT 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:序列测定
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 序列分析;测序 时刻;随机;随意;瞬间 未作说明的组织;组织;组织 & 涂片 硫嘌呤 S-甲基转移酶基因;硫嘌呤甲基转移酶基因 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=80738-8