F5 gene p.Arg506Gln [Presence] in Blood or Tissue by Molecular genetics method 21668-9
LOINC Code
| LOINC code | 21668-9 | ||
|---|---|---|---|
| name | F5 gene p.Arg506Gln [Presence] in Blood or Tissue by Molecular genetics method | ||
| description | Factor V Leiden R506Q assays allow for the detection and genotyping of a single point mutation (G to A at position 1691, [NCBI dbSNP ID: rs6025]) of the human Factor V (F5) gene which leads to an amino acid change from arginine to glutamine (R506Q) in the F5 protein. Expected results include wild type, heterzygous, or homozygous for the R506Q (or 1691G>A) mutation. | ||
| status | ACTIVE | ||
Fully-Specified Name | |||
| component | F5 gene.p.Arg506Gln | ||
| property | PrThr = Present or threshold: The Property PrThr stands for “Presence or Threshold”, meaning either a) the actual presence or absence of an analyte, or b) that the amount of analyte detected is over some predetermined threshold. | ||
| 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 | Ord = Ordinal: Ordered categorical responses, e.g., 1+, 2+, 3+; positive, negative; reactive, indeterminate, nonreactive. | ||
| 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 | F5 p.R506Q Bld/T Ql | ||
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 | 5281 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 | Changed Component name to align with the current HGVS recommendations to use the three letter codes for amnio acids. In the shortname, we kept the single letter codes.; 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. | ||
Related Names | |||
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