Version 2.78

Part Description

LP63593-5   PAH gene
The PAH gene (phenylalanine hydroxylase) [HGNC Gene ID:8582] is located on chromosome 12q22-q24.2. PAH encodes the enzyme phenylalanine hydroxylase that is the rate-limiting step in phenylalanine catabolism. Deficiency of this enzyme activity results in the autosomal recessive disorder phenylketonuria. [provided by RefSeq, Jul 2008] [NCBI Gene ID:5053] Source: National Center for Biotechnology Information (NCBI) Gene

Fully-Specified Name

Component
PAH gene full mutation analysis
Property
Find
Time
Pt
System
Bld/Tiss
Scale
Doc
Method
Molgen

Additional Names

Short Name
PAH gene Full Mut Anl Bld/T
Display Name
PAH gene full mutation analysis Molgen Doc (Bld/Tiss)
Consumer Name Alpha Get Info
PAH gene variant analysis, Blood or tissue specimen

Basic Attributes

Class
MOLPATH
Type
Laboratory
First Released
Version 2.74
Last Updated
Version 2.75
Order vs. Observation
Both

Language Variants Get Info

Tag Language Translation
es-ES Spanish (Spain) Gen PAH Análisis de mutación completa:Hallazgo:Punto temporal:Sangre o tejido:Doc:Genética molecular
fr-FR French (France) PAH gène analyse complète des mutations:Recherche:Ponctuel:Sang/Tissu:Document:Biologie moléculaire
it-IT Italian (Italy) PAH, gene Analisi di mutazione completa:Osservazione:Pt:Sangue/Tess:Doc:Molgen
Synonyms: Gene PAH Genetica molecolare Osservazione Patologia molecolare Punto nel tempo (episodio) Sangue Sangue o Tessuto Tessuto & Strisci
nl-NL Dutch (Netherlands) PAH-gen volledige mutatie-analyse:bevinding:moment:bloed of weefsel:document:moleculair genetisch onderzoek
Synonyms: molgen PAH gen
ru-RU Russian (Russian Federation) PAH ген полный мутация анализ:Находка:ТчкВрм:Кр/Тк:Док:МолГен
Synonyms: Документ Кровь Кровь или Ткань полное исследование на мутацию Ткань и мазки Точка во времени;Момент
tr-TR Turkish (Turkey) PAH geni tam mutasyon analizi:Bulgu:Zmlı:Kan/Dk:Dokm:Molgen
zh-CN Chinese (China) PAH 基因 全面突变分析:发现:时间点:全血/组织:文档型:分子遗传学类实验室方法
Synonyms: PKU;苯丙氨酸羟化酶基因;Phenylalanine hydroxylase gene 临床文档型;临床文档;文档;文书;医疗文书;临床医疗文书 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 发现是一个原子型临床观察指标，并不是作为印象的概括陈述。体格检查、病史、系统检查及其他此类观察指标的属性均为发现。它们的标尺对于编码型发现可能是名义型，而对于叙述型文本之中所报告的发现，则可能是叙述型。;发现物;所见;结果;结论 完整突变分析;综合突变分析 时刻;随机;随意;瞬间 未作说明的组织;组织;组织 & 涂片 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=101391-1