72512-7

VKORC1 gene targeted mutation analysis in Blood or Tissue by Molecular genetics method

Active

Term Description

VKORC1 gene mutation analysis represents testing for multiple mutations in the VKORC1 gene that are associated with coumarin (Warfarin) resistance see [OMIM:122700].
Source: Regenstrief LOINC

Part Description

LP65679-0   VKORC1 gene
The VKORC1 gene (vitamin K epoxide reductase complex, subunit 1) [HGNC Gene ID:23663] is located on chromosome 16p11.2. Vitamin K is essential for blood clotting but must be enzymatically activated. This enzymatically activated form of vitamin K is a reduced form required for the carboxylation of glutamic acid residues in some blood-clotting proteins. The product of this gene encodes the enzyme that is responsible for reducing vitamin K 2,3-epoxide to the enzymatically activated form. Fatal bleeding can be caused by vitamin K deficiency and by the vitamin K antagonist warfarin, and it is the product of this gene that is sensitive to warfarin. In humans, mutations in this gene can be associated with deficiencies in vitamin-K-dependent clotting factors and, in humans and rats, with warfarin resistance. Two pseudogenes have been identified on chromosome 1 and the X chromosome. Two alternatively spliced transcripts encoding different isoforms have been described. [provided by RefSeq, Jul 2008] [NCBI Gene ID:79001] Source: National Center for Biotechnology Information (NCBI) Gene

Fully-Specified Name

Component

VKORC1 gene targeted mutation analysis

Property

Find

Time

Pt

System

Bld/Tiss

Scale

Doc

Method

Molgen

Additional Names

Long Common Name

VKORC1 gene targeted mutation analysis in Blood or Tissue by Molecular genetics method

Short Name

VKORC1 gene Mut Anl Bld/T

Display Name

VKORC1 gene targeted mutation analysis Molgen Doc (Bld/Tiss)

Consumer Name Alpha Get Info

VKORC1 gene targeted mutation analysis, Blood or tissue specimen

Basic Attributes

Class

MOLPATH.PHARMG

Type

Laboratory

First Released

Version 2.42

Last Updated

Version 2.67

Change Reason

Release 2.67: CLASS: Updated to MOLPATH.PHARMG, the more representative LOINC Class for this concept.; Previous Releases: 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.; 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
• Document
• EDTP308
• Finding
• Findings
• Genetics
• Heredity
• Heritable
• IMAGE3455200
• Inherited
• Molecular genetics
• Molecular pathology
• MOLPATH
• MOLPATH.PHARMG
• MST134
• MST576
• Mut
• Mut Anl
• Mutations
• PCR
• Point in time
• Random
• Tissue
• Tissue, unspecified
• vitamin K epoxide reductase complex, subunit 1
• VKCFD2
• VKOR
• WB
• Whole blood
• Whole blood or Tissue

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CodeSystem lookup

https://fhir.loinc.org/CodeSystem/$lookup?system=http://loinc.org&code=72512-7

LOINC Copyright

Copyright © 2024 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.