MTHFR gene c.677C>T [Genotype] in Blood or Tissue by Molecular genetics method Nominal   28005-7

LOINC Code


LOINC code28005-7
nameMTHFR gene c.677C>T [Genotype] in Blood or Tissue by Molecular genetics method Nominal
statusACTIVE

Fully-Specified Name

componentMTHFR gene.c.677C>T
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 nameMTHFR c.677C>T Geno 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

test rank3000 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 2.67: PROPERTY: Updated Property from PrThr to Geno based on the current LOINC naming model for concepts used to report the patient's genotype for a specific variant; SCALE_TYP: Updated Scale from Ord to Nom based on the current LOINC naming model for concepts used to report the patient's genotype for a specific variant; Previous Releases: Corrected variant to describe it at coding level versus protein level and to harmonize with HGVS nomenclature guidelines.; The PrThr property is used for LOINC terms whose results are reported using an ordered categorical scale, regardless of whether or not an internal threshold was used to make that determination. This change was approved by the Laboratory LOINC Committee in June 2016. Added Answer list to reflect that this term should be used to report the presence or absence of a single point mutation. This change was approved by the Laboratory LOINC Committee in December 2018.

Related Names

5,10-methylenetetrahydrofolate reductase gene
Blood
c.665C>
T
C665T
C677T
Genetics
Heredity
Heritable
Inherited
methylenetetrahydrofolate reductase (NAD(P)H)
Molecular genetics
Molecular pathology
MOLPATH
MOLPATH.MUTATIONS
MTHFR c.677C>
T
NADPH
Nominal
p.A222V
p.Ala222Val
PCR
Point in time
Random
T prime
Tissue
Tissue, unspecified
UniversalLabOrders
Vascular risk
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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