Version 2.80

Part Description

LP63480-5   PKHD1 gene
The PKHD1 gene (polycystic kidney and hepatic disease 1 (autosomal recessive)) [HGNC Gene ID:9016] is located on chromosome 6p12.2. The protein encoded by this gene is predicted to have a single transmembrane (TM)-spanning domain and multiple copies of an immunoglobulin-like plexin-transcription-factor domain. Alternative splicing results in two transcript variants encoding different isoforms. Other alternatively spliced transcripts have been described, but the full length sequences have not been determined. Several of these transcripts are predicted to encode truncated products which lack the TM and may be secreted. Mutations in this gene cause autosomal recessive polycystic kidney disease, also known as polycystic kidney and hepatic disease-1. [provided by RefSeq, Jul 2008] [NCBI Gene ID:5314] Source: National Center for Biotechnology Information (NCBI) Gene

Fully-Specified Name

Component
PKHD1 gene targeted mutation analysis
Property
Prid
Time
Pt
System
Bld/Tiss
Scale
Nom
Method
Molgen

Additional Names

Long Common Name
PKHD1 gene mutations found [Identifier] in Blood or Tissue by Molecular genetics method Nominal
Short Name
PKHD1 gene Mut Anl Bld/T
Display Name
PKHD1 gene targeted mutation analysis Molgen Nom (Bld/Tiss)
Consumer Name Alpha Get Info
PKHD1 gene targeted mutation analysis, Blood or tissue specimen

Basic Attributes

Class
MOLPATH.MUT
Type
Laboratory
First Released
Version 2.21
Last Updated
Version 2.63 (MIN)
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

Language Variants Get Info

Tag Language Translation
el-GR Greek (Greece) Γονίδιο PKHD1 στοχευμένη ανάλυση μεταλλάξεων:Prid:Pt:Αίμα/Ιστός:Nom:Μοριακή γενετική
Synonyms: Prid Γονίδιο Γονίδιο PKHD1
es-ES Spanish (Spain) Gen PKHD1 Analisis de mutaciones:Presencia o identidad:Punto temporal:Sangre o tejido:Nom:Genética molecular
es-MX Spanish (Mexico) Análisis de mutaciones dirigidas al gen PKHD1:Presencia o identidad:Punto temporal:Sangre o tejido:Nominal:Genética molecular
fr-FR French (France) PKHD1 gène mutation cible trouvée:Identification:Ponctuel:Sang/Tissu:Résultat nominal:Biologie moléculaire
it-IT Italian (Italy) PKHD1, gene analisi di mutazione mirata:Prid:Pt:Sangue/Tess:Nom:Molgen
Synonyms: Gene PKHD1 Genetica molecolare Mutazione genica Patologia molecolare Presenza o Identità Punto nel tempo (episodio) Sangue Sangue o Tessuto Tessuto & Strisci
nl-NL Dutch (Netherlands) PKHD1-gen doelgerichte mutatie-analyse:identificator:moment:bloed of weefsel:nominaal:moleculair genetisch onderzoek
Synonyms: molgen PKHD1 gen targeted
pt-BR Portuguese (Brazil) PKHD1 análise de mutação genética:Ident:Pt:Sg/Tecido:Nom:Genética molecular
Synonyms: ARPKD; Polycystic Kidney and Hepatic Disease 1 (Autosomal Recessive); FCYT; Fibrocystin gene; Identity or presence; Point in time; Random; Bld/T; Tissue; Bld/T; Blood; WB; Whole blood; Nominal; PCR; Molecular genetics; Mut Anal; Mutations; MOLPATH.MUTATIONS; MOLPATH.MUTATIONS; Molecular pathology
ru-RU Russian (Russian Federation) PKHD1 ген исследование на мутацию:ПрИд:ТчкВрм:Кр/Тк:Ном:МолГен
Synonyms: Кровь Кровь или Ткань Номинальный;Именной Присутствие или Идентификация Ткань и мазки Точка во времени;Момент
tr-TR Turkish (Turkey) PKHD1 geni Mutasyon analizi:MevcKimlik:Zmlı:Kan/Dk:Snf:Molgen
zh-CN Chinese (China) PKHD1 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: ARPKD;FCYT;Fibrocystin 基因;Polycystic Kidney and Hepatic Disease 1 (Autosomal Recessive);多囊肾与肝病 1 型（常染色体隐性）;常染色体隐性遗传性多囊肾与肝病 1 型;常染色体隐性遗传性多囊肾病（ARPKD） 全血或组织;血液/组织;血液或组织 分子病理学.基因突变;分子病理学.突变;分子病理学试验.基因突变;分子病理学试验.突变;分子病理学试验类.突变;基因突变;突变 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 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=49215-7