69481-0

ACVRL1 gene+ENG gene deletion and duplication mutation analysis in Blood or Tissue by MLPA

Active

Term Description

This term is used for testing the presence of large genomic duplications and deletions within the ACVRL1 and ENG genes, which are commonly associated with hereditary hemorrhagic telangiectasia (HHT).

Part Description

LP71404-5 ACVRL1 gene+ENG gene
The endoglin gene (ENG) and the activin A receptor, type II-like 1 gene (ACVRL1) are most commonly associated with hereditary hemorrhagic telangiectasia (HHT). Mutations in these genes occur in about 80% of individuals with HHT. ENG and ACVRL1 encode for membrane glycoproteins involved in transforming growth factor-beta signaling related to vascular integrity. Mutations in ENG are associated with HHT type 1 (HHT1), a condition with a higher incidence of pulmonary arteriovenous malformations, whereas ACVRL1 mutations occur in HHT type 2 (HHT2), a condition with a higher incidence of hepatic arteriovenous malformations. The majority of mutations in ENG and ACVRL1 are point mutations, which are identified by sequencing with a detection rate of approximately 60% to 80% of mutations involved in HHT. Approximately 10% of ENG and ACVRL1 mutations are large genomic deletions and duplications, which are detectable by methods such as multiplex ligation-dependent probe amplification (MLPA). Copyright Copyright © 1995-2009 Source: Mayo Medical Laboratories

LOINC Names Get Info

Fully-Specified Name: ACVRL1 gene+ENG gene deletion+duplication:Find:Pt:Bld/Tiss:Doc:MLPA
Long Common Name: ACVRL1 gene+ENG gene deletion and duplication mutation analysis in Blood or Tissue by MLPA
Short Name: ACVRL1+ENG gene Del+Dup Bld/T MLPA
Display Name: ACVRL1 gene+ENG gene del and dup mutation analysis MLPA Doc (Bld/Tiss)
Consumer Name Alpha Get Info: ACVRL1 gene+ENG gene deletion/duplication analysis, Blood or tissue specimen

Part Model Get Info

Component
ACVRL1 gene+ENG gene deletion+duplication
LP227549-5
- Analyte
  ACVRL1 gene+ENG gene deletion+duplication
  LP227549-5
  - Component Numerator
    ACVRL1 gene+ENG gene deletion+duplication
    LP227549-5
    - Component Numerator Core
      ACVRL1 gene+ENG gene
      LP71404-5
    - Component Numerator Core Suffix
      deletion+duplication
      LP136317-7
  - Component Denominator
    NULL
    - Component Denominator Core
      NULL
    - Component Denominator Core Suffix
      NULL
- Challenge
  NULL
- Adjustment
  NULL
- Count
  NULL
Property
Find
LP6813-2
Time
Pt
LP6960-1
- Time Core
  Pt
  LP6960-1
- Time Modifier
  NULL
System
Bld/Tiss
LP7061-7
- System Core
  Bld/Tiss
  LP7061-7
- Super System
  NULL
Scale
Doc
LP32888-7
Method
MLPA
LP147267-1

Basic Attributes

Class: MOLPATH.MUT
Type: Laboratory
First Released: Version 2.40
Last Updated: Version 2.66 (MAJ)
Change Reason: Based on LOINC Committee review (June 2019), updated the Property from "Prid" to "Find" and Scale from "Nar" to "Doc" to align with the current LOINC model for naming collections of information reported in narrative and/or structured formats.
Order vs. Observation: Both

Language Variants Get Info

Tag	Language	Translation
cs-CZ	Czech (Czechia)	Gen ACVRL1+ENG delece+duplikace:Nález:Časový bod:Krev/tkáň:Dokument:Multiplexní na ligaci závislá PCR reakce (MPLA)
el-GR	Greek (Greece)	Γονίδιο ACVRL1+γονίδιο ENG διαγραφή+διπλασιασμός:Εύρεση:Pt:Αίμα/Ιστός:Doc:MLPA Synonyms: Doc MLPA MOLPATH MOLPATH.MUT Pt Αίμα Αίμα/Ιστός Γονίδιο Γονίδιο ACVRL1 Γονίδιο ACVRL1+γονίδιο ENG Γονίδιο ENG διαγραφή διαγραφή+διπλασιασμός διπλασιασμός Εύρεση Ιστός
es-ES	Spanish (Spain)	Gen ACVRL1+Gen ENG Delección+duplicación:Hallazgo:Punto temporal:Sangre o tejido:Doc:MLPA
es-MX	Spanish (Mexico)	Gen ACVRL1 + deleción + duplicación del gen ENG:Hallazgo:Punto temporal:Sangre o tejido:Documento:MLPA
fr-FR	French (France)	ACVRL1+ENG gènes délétion+duplication:Recherche:Ponctuel:Sang/Tissu:Document:MLPA
it-IT	Italian (Italy)	ACVRL1, gene+ENG, gene Delezione+duplicazione:Osservazione:Pt:Sangue/Tess:Doc:MLPA Synonyms: Amplificazione legatura-dipendente multipla della delezione e duplicazione Gene ACVRL1 Gene ACVRL1+Gene ENG Gene ENG Mutazione genica Osservazione Patologia molecolare Punto nel tempo (episodio) Sangue Sangue o Tessuto Tessuto & Strisci
pl-PL	Polish (Poland)	ACVRL1 gen+ENG gen delecja+duplikacja:stwierdzenie:punkt w czasie:krew lub tkanka:dokument:MLPA Synonyms: Gen ACVRL1 Gen ACVRL1 i gen ENG Gen ENG
tr-TR	Turkish (Turkey)	ACVRL1 geni+ENG geni delesyon+duplikasyon:Bulgu:Zmlı:Kan/Dk:Dokm:MLPA Synonyms: çiftleme
zh-CN	Chinese (China)	ACVRL1 基因+ENG 基因缺失+重复:发现:时间点:全血/组织:文档型:多重连接探针扩增技术 Synonyms: ACVRLK1;ALK1;ALK-1;Hereditary hemorrhagic telangiectasia;HHT;HHT2;ORW2;Osler-Rendu-Weber 综合征;Osler-Rendu-Weber 综合征 2;Rendu-Osler-Weber 综合征;R-O-W 综合征;SKR3;TGF-B 超家族受体 I 型;TSR-I;丝氨酸/苏氨酸-蛋白激酶受体 R3 前体;活化素 A II 型受体样 1;活化素受体样激酶 1;活素 A II 型受体样 1;活素受体样激酶 1;激活素 A CD105;END;HHT1;ORW;ORW1;FLJ41744;HHT1;CD105 antigen;CD105 抗原;OTTHUMP00000022221;endoglin;内皮糖蛋白;type I integral membrane glycoprotein;I 型膜内在蛋白质;zona pellucida (ZP) family of proteins;卵透明带蛋白家族;一种与增殖相关的缺氧诱导蛋白,又是转化生长因子-β(TGF-β)受体复合物之一,主要表达于新生血管内皮细胞.可以作为肿瘤诊断、转 multiplex ligation-dependent probe amplification;MLPA;多重连接探针扩增;多重连接酶依赖的探针扩增技术;多重连接依赖型探针扩增技术临床文档型;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.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;结论基因复制;基因重复;重复基因缺失（基因缺失、缺损、基因缺损、基因删除、删除、基因丢失）+重复（基因重复）;基因缺失+重复时刻;随机;随意;瞬间未作说明的组织;组织;组织 & 涂片染色体缺失;染色体区带缺失;基因缺失;缺损;基因缺损;基因删除;删除;基因丢失血;血液遗传基因;遗传因子;吉恩;生物基因

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Copyright © Regenstrief Institute, Inc. All Rights Reserved. To the extent included herein, the LOINC table and LOINC codes are copyright © Regenstrief Institute, Inc. and the Logical Observation Identifiers Names and Codes (LOINC) Committee. See https://loinc.org/license for the full LOINC copyright and license.