CYP2D6 gene and CYP2C19 gene targeted mutation analysis panel - Blood or Tissue by Molecular genetics method 72886-5
LOINC Code
| LOINC code | 72886-5 | ||
|---|---|---|---|
| name | CYP2D6 gene and CYP2C19 gene targeted mutation analysis panel - Blood or Tissue by Molecular genetics method | ||
| description | CYP2D6 and CYP2C19 cytochrome P450 genes play a major role in the metabolism of many widely prescribed drugs, including anti-depressants, anti-psychotics, anti-epileptics, proton pump inhibitors, and beta-blockers. The CYP2D6 gene has at least 70 allelic variants resulting in four phenotypic types: poor metabolizers with gene inactivation of both alleles, intermediate metabolizers with one reduced activity allele and one null allele, extensive metabolizers with at least one functional allele, and ultra-rapid metabolizers with excess enzymatic activity due to multiple copies of functional alleles from gene duplication. The CYP2C19 gene has two major variant alleles that result in enzyme deficiency. This panel term is created for, but not limited to, Roche Diagnostics' AmpliChip CYP450 assay, which detects 29 polymorphisms in the 2D6 and 2 polymorphisms in the 2C19 gene, as well as gene duplications and deletions. | ||
| status | ACTIVE | ||
Fully-Specified Name | |||
| component | CYP2D6 gene & CYP2C19 gene targeted mutation analysis panel | ||
| property | - | ||
| 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 | - | ||
| 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 | CYP2D6+CYP2C19 pnl Bld/T | ||
Basic Attributes | |||
| class | PANEL.MOLPATH.PHARMG | ||
| type | 1 Laboratory | ||
| order vs. observation | Order | ||
Panel Components | |||
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 | 2.67 | ||
| last change type | PANEL - addition or removal of child elements or change in the conditionality of child elements in the panel or in sub-panels contained by the panel. | ||
| change reason | Release 2.67: CLASS: Updated to PANEL.MOLPATH.PHARMG, the more representative LOINC Class for this concept.; SYSTEM: Updated System from "Bld/Tiss/Sal" to "Bld/Tiss" since this System in LOINC encompasses all specimens used for germline nucleic acid testing, including blood, tissue and cells contained in swabs as well as fluids such as saliva.; Previous Releases: Based on LOINC Committee review (June 2016), "targeted" was added to the Component to clarify that this test is looking for a specific set of mutations as described in the LOINC User Guide under the Molecular Genetics section. | ||
Related Names | |||
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