LOINC
Version 2.66

46731-6RHC gene mutations found [Type] in Amniotic fluid by Molecular genetics methodActive

Component
RHC gene targeted mutation analysis
Property
Type
Time
Pt
System
Amnio fld
Scale
Nom
Method
Molgen

Additional Names

Short Name
RHC gene Mut Anl Amn
Display Name Beta
RHC gene targeted mutation analysis Molgen Nom (Amn fld)
Consumer Name Alpha
RHC gene Variant Analysis, Amniotic Fluid

Part Description

LP40521-4   RHC gene
The RHC gene (Rh blood group, CcEe antigens) gene is located on chromosome 1p36.11. The Rh blood group system is the second most clinically significant of the blood groups, second only to ABO. It is also the most polymorphic of the blood groups, with variations due to deletions, gene conversions, and missense mutations. The Rh blood group includes this gene which encodes both the RhC and RhE antigens on a single polypeptide and a second gene which encodes the RhD protein. The classification of Rh-positive and Rh-negative individuals is determined by the presence or absence of the highly immunogenic RhD protein on the surface of erythrocytes. A mutation in this gene results in amorph-type Rh-null disease. Alternative splicing of this gene results in four transcript variants encoding four different isoforms. [provided by RefSeq, Jul 2008] [NCBI Gene ID:6006] Copyright OMIM® and Online Mendelian Inheritance in Man® are registered trademarks of the Johns Hopkins University. Source: National Center for Biotechnology Information (NCBI) Gene, Link to OMIM

Basic Attributes

Class
MOLPATH.MUT
Type
Laboratory
First Released
Version 2.19
Last Updated
Version 2.63
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

Member of these Panels

LOINC Long Common Name
54037-7 HEDIS 2009 panel
57820-3 HEDIS 2010 panel
60442-1 HEDIS 2011 panel
67767-4 HEDIS 2012 panel
72199-3 HEDIS 2013 panel
74234-6 HEDIS 2014 Value Sets

Language Variants Get Info

zh-CNChinese (China)
RHC 基因 突变分析:类型:时间点:羊水:名义型:分子遗传学类实验室方法
nl-NLDutch (Netherlands)
RHC-gen mutatie-analyse:type:moment:vruchtwater:nominaal:molgen
fr-FRFrench (France)
RHC gene targeted mutation analysis:Type:Pt:Amnio fld:Nom:Molgen
it-ITItalian (Italy)
RHC, gene , analisi di mutazione mirata:Tipo:Pt:Liquido amniotico:Nom:Molgen
pt-BRPortuguese (Brazil)
RHC análise de mutação genética:Tipo:Pt:LiqAmni:Nom:Genética molecular
ru-RURussian (Russian Federation)
RHC ген исследование на мутацию:Тип:ТчкВрм:Амниотич ждк:Ном:МолГен
es-ESSpanish (Spain)
Gen RHC Analisis de mutaciones:Tipo:Punto temporal:Fluido Ammiótico:Nom:Genética molecular
tr-TRTurkish (Turkey)
RHC geni Mutasyon analizi:Tip:Zmlı:Amniyon sv:Snf:Molgen

LOINC FHIR® API Example - CodeSystem Request Get Info

https://fhir.loinc.org/CodeSystem/$lookup?system=http://loinc.org&code=46731-6