69482-8

ENG gene mutation analysis limited to known familial mutations in Blood or Tissue by Molecular genetics method

Active

Term Description

This term is used for carrier or diagnostic testing for at-risk relatives of an affected individual who has a previously identified known genetic mutation within the ENG gene. Mutation analysis only includes testing for the known familial mutation(s).

Part Descriptions

LP71479-7   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

LP71479-7   ENG gene
The ENG gene (endoglin) [HGNC Gene ID:3349] is located on chromosome 9q34.11. This gene encodes a homodimeric transmembrane protein which is a major glycoprotein of the vascular endothelium. This protein is a component of the transforming growth factor beta receptor complex and it binds to the beta1 and beta3 peptides with high affinity. Mutations in this gene cause hereditary hemorrhagic telangiectasia, also known as Osler-Rendu-Weber syndrome 1, an autosomal dominant multisystemic vascular dysplasia. This gene may also be involved in preeclampsia and several types of cancer. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2013] [NCBI Gene ID:2022] Source: National Center for Biotechnology Information (NCBI) Gene

LOINC Names Get Info

Fully-Specified Name

ENG gene mutation analysis limited to known familial mutations:Find:Pt:Bld/Tiss:Doc:Molgen

Long Common Name

ENG gene mutation analysis limited to known familial mutations in Blood or Tissue by Molecular genetics method

Short Name

ENG Fam Mut Anl Bld/T

Display Name

ENG gene familial mut analysis Molgen Doc (Bld/Tiss)

Consumer Name Alpha Get Info

ENG gene familial variant analysis, Blood or tissue specimen

Part Model Get Info

• Component

  ENG gene mutation analysis limited to known familial mutations
  LP228351-5

  • Analyte

    ENG gene mutation analysis limited to known familial mutations
    LP228351-5

    • Component Numerator

      ENG gene mutation analysis limited to known familial mutations
      LP228351-5

      • Component Numerator Core

        ENG gene
        LP71479-7

      • Component Numerator Core Suffix

        mutation analysis limited to known familial mutations
        LP135775-7

    • 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

  Molgen
  LP6404-0

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

Related Names

• Blood
• CD105
• CD105 Ag
• Document
• END
• Endoglin
• Fam Mut Anl
• Finding
• Findings
• Genetics
• Heredity
• Heritable
• HHT1
• Inherited
• LMTED
• LTD
• Molecular genetics
• Molecular pathology
• MOLPATH
• MOLPATH.MUTATIONS
• Mut
• Mutation
• Mutations
• Muts
• ORW
• ORW1
• Osler-Rendu-Weber syndrome 1
• PCR
• Point in time
• Random
• Tissue
• Tissue, unspecified
• WB
• Whole blood
• Whole blood or Tissue

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CodeSystem lookup

https://fhir.loinc.org/CodeSystem/$lookup?system=http://loinc.org&code=69482-8

LOINC Copyright

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.