MTHFR gene c.1298A>C [Genotype] in Blood or Tissue by Molecular genetics method Nominal 28060-2
LOINC Code
| LOINC code | 28060-2 | ||
|---|---|---|---|
| name | MTHFR gene c.1298A>C [Genotype] in Blood or Tissue by Molecular genetics method Nominal | ||
| status | ACTIVE | ||
Fully-Specified Name | |||
| component | MTHFR gene.c.1298A>C | ||
| property | Geno = Genotype | ||
| time | Pt = Point in time: To identify measures at a point in time. This is a synonym for “spot” or “random” as applied to urine measurements. | ||
| system | Bld/Tiss Bld = Whole blood Tiss = Tissue, unspecified | ||
| scale | Nom = 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. | ||
| method | Molgen = Molecular Genetics: General class of methods used to detect genetic attributes on a molecular basis including RFL, PCR and other methods. | ||
Additional Names | |||
| short name | MTHFR c.1298A>C Geno Bld/T | ||
Basic Attributes | |||
| class | MOLPATH.MUT | ||
| type | 1 Laboratory | ||
| order vs. observation | Both | ||
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 rank | 3088 of 2000 most commonly performed tests by labs in USA | ||
| first released | |||
| last updated | 2.73 | ||
| last change type | MIN - change to field other than name | ||
| change reason | Release 2.67: 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; 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; 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. Updated 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 | |||
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