MSH2 gene+MLH1 gene+MSH6 gene mutation analysis limited to known familial mutations in Blood or Tissue by Molecular genetics method   76063-7

LOINC Code


LOINC code76063-7
nameMSH2 gene+MLH1 gene+MSH6 gene mutation analysis limited to known familial mutations in Blood or Tissue by Molecular genetics method
descriptionThis term is used for carrier or diagnostic testing for at-risk or presymptomatic relatives of an affected individual who has a previously identified known genetic mutation within the MLH1, MSH2 or MSH6 genes. Mutations in these genes cause hereditary nonpolyposis colorectal cancer (HNPCC). Mutation analysis only includes testing for the known familial mutation.
statusACTIVE

Fully-Specified Name

componentMSH2 gene+MLH1 gene+MSH6 gene mutation analysis limited to known familial mutations
propertyFind  =  Finding
timePt  =  Point in time:  To identify measures at a point in time. This is a synonym for “spot” or “random” as applied to urine measurements.
systemBld/Tiss
    Bld  =  Whole blood
    Tiss  =  Tissue, unspecified
scaleDoc  =  Document:  A document that could be in many formats (XML, narrative, etc.)
methodMolgen  =  Molecular Genetics:  General class of methods used to detect genetic attributes on a molecular basis including RFL, PCR and other methods.

Additional Names

short nameMSH2+MLH1+MSH6 gene Fam Mut Anl Bld/T

Basic Attributes

classMOLPATH.MUT
type1  Laboratory
order vs. observationBoth

Associated Observations

LOINC codes that represent optional associated observation(s) for a clinical observation or laboratory test. A LOINC term may represent a single associated observation or panel containing several associated observations.

History/Usage

first released
last updated2.66
last change typeMAJ  - change to name field other than Component;
change reasonBased 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.

Related Names

BAT-26
Blood
COCA1
COCA2
Colon cancer nonpolyposis type 1
Document
Fam Mut Anl
FCC1
FCC2
Finding
Findings
G/T mismatch-binding protein gene
Genetics
GTBP
GTMBP
Hereditary Nonpolyposis Colorectal Cancer
Heredity
Heritable
hMLH1
HNPCC
HNPCC1
HNPCC2
HNPCC5
HSAP
Inherited
LCFS2
LMTED
LTD
Lynch syndrome
MGC5172
Molecular genetics
Molecular pathology
MOLPATH
MOLPATH.MUTATIONS
MSH2+MLH1 gene
MSH2+MLH1+MSH6 gene
Mut
Mutation
Mutations
mutL homolog 1
MutL homolog 1, colon cancer, nonpolyposis type 2
Muts
mutS homolog 2
mutS homolog 6
p160
PCR
Point in time
Random
Tissue
Tissue, unspecified
WB
Whole blood
Whole blood or Tissue

Copyright © 2024 Regenstrief Institute, Inc. All Rights Reserved. To the extent included herein, the LOINC table and LOINC codes are copyright © 1995-2024, 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.

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