CYP2D6 gene allele [Genotype] in Blood or Tissue by Molecular genetics method Nominal   40425-1

LOINC Code


LOINC code40425-1
nameCYP2D6 gene allele [Genotype] in Blood or Tissue by Molecular genetics method Nominal
descriptionThe patient's CYP2D6 allelic genotype (e.g. *1/*2A) based on analysis of multiple variants (e.g. *2,*2A,*3-*12,*14,*15,*17,*19, etc.) as well as gene deletions, duplications and rearrangements within the CYP2D6 gene. The example answers provided with this code are a small representative of the CYP2D6 allelic genotypes. For a complete list of CYP2D6 alleles, see the The Human Cytochrome P450 (CYP) Allele Nomenclature Database (http://www.cypalleles.ki.se).
statusACTIVE

Fully-Specified Name

componentCYP2D6 gene allele
propertyGeno  =  Genotype
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
scaleNom  =  Nominal:  Nominal or categorical responses that do not have a natural ordering. (e.g., names of bacteria, reported as answers, categories of appearance that do not have a natural ordering, such as, yellow, clear, bloody.
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 nameCYP2D6 allele Geno Bld/T

Basic Attributes

classMOLPATH.PHARMG
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.

Member of these Panels

72886-5CYP2D6 gene and CYP2C19 gene targeted mutation analysis panel - Blood or Tissue by Molecular genetics method

History/Usage

test rank9273 of 2000 most commonly performed tests by labs in USA
first released
last updated2.73
last change typeMIN  - change to field other than name
change reasonRelease 2.68: CLASS: Updated to MOLPATH.PHARMG, the more representative LOINC Class for this concept.; SYSTEM: Updated System from "Bld/Tiss/Sal" to "Bld/Tiss" since this System in LOINC encompasses all specimens used for germline nucleic acid testing, including blood, tissue and cells contained in swabs as well as fluids such as saliva.; COMPONENT: Updated Component to align with the LOINC term naming model for concepts used to report allelic genotypes (e.g. CYP2D6*1/*1), which was the original intent for this term.; Release 2.67: CLASS: Updated to MOLPATH.PHARMG, the more representative LOINC Class for this concept.; SYSTEM: Updated System from "Bld/Tiss/Sal" to "Bld/Tiss" since this System in LOINC encompasses all specimens used for germline nucleic acid testing, including blood, tissue and cells contained in swabs as well as fluids such as saliva.; Previous Releases: Added specimen of saliva since Cytochrome P450 gene testing is commonly done on saliva as well as blood specimens and results are theoretically the same for both.; 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.

Related Names

Blood
CPD6
CYP2D
CYP2D@
CYP2D6 allele
CYP2D7AP
CYP2D7BP
CYP2D7P2
CYP2D8P2
CYP2DL1
CYPIID6
Cytochrome p450
cytochrome P450, family 2, subfamily D, polypeptide 6
Debrisoquine hydroxylation gene
Genetics
Heredity
Heritable
HGNC:2629
Inherited
Molecular genetics
Molecular pathology
MOLPATH
MOLPATH.PHARMG
Nominal
P450C2D
P450DB1
P450-DB1
PCR
Point in time
Random
Tissue
Tissue, unspecified
WB
Whole blood
Whole blood or Tissue

Copyright © 2023 Regenstrief Institute, Inc. All Rights Reserved. To the extent included herein, the LOINC table and LOINC codes are copyright © 1995-2023, 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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