PYGM gene p.Arg50Ter+Gly205Ser [Presence] in Blood or Tissue by Molecular genetics method 40930-0
LOINC Code
| LOINC code | 40930-0 | ||
|---|---|---|---|
| name | PYGM gene p.Arg50Ter+Gly205Ser [Presence] in Blood or Tissue by Molecular genetics method | ||
| status | ACTIVE | ||
Fully-Specified Name | |||
| component | PYGM gene.p.Arg50Ter+Gly205Ser | ||
| property | Arb = Arbitrary | ||
| 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 | PYGM p.R50X+G205S 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 | |||
| first released | |||
| last updated | 2.56 | ||
| last change type | NAM - change to Analyte/Component | ||
| change reason | According to OMIM, R49X mutation (rs116987552) is now referred to as the R50X mutation and G204S (rs119103251) is referred to as the G205S mutation. Updated Component part for this term. 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. | ||
Related Names | |||
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