PKLR gene deletion+duplication and full mutation analysis in Blood or Tissue by Molecular genetics method 94212-8
LOINC Code
| LOINC code | 94212-8 | ||
|---|---|---|---|
| name | PKLR gene deletion+duplication and full mutation analysis in Blood or Tissue by Molecular genetics method | ||
| description | Test includes full sequence analysis (e.g. by Sanger and/or next-generation sequencing) and deletion/duplication analysis for the detection of variants and large deletions/duplications in the PKLR gene in patients with low levels of erythrocytic PK enzymatic activity. Testing is performed to aid in the diagnosis of pyruvate kinase (PK) deficiency. | ||
| status | ACTIVE | ||
Fully-Specified Name | |||
| component | PKLR gene deletion+duplication & full mutation analysis | ||
| property | Find = Finding | ||
| 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 | Doc = Document: A document that could be in many formats (XML, narrative, etc.) | ||
| 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 | PKLR gene Del+Dup + Full Mut Anl Bld/T | ||
Basic Attributes | |||
| class | MOLPATH | ||
| 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 | 2.68 | ||
| last change type | ADD - added | ||
Related Names | |||
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