79343-0
LOINC Code
| LOINC code | 79343-0 | |
|---|---|---|
| name | ||
| description | The pattern of dimethylacetals (DMAs), including DMA 16:0 (1,1-Dimethoxyhexadecane), DMA 18:0 (1,1-Dimethoxyoctadecane), and DMA 18:1 (1,1-dimethoxy-(9Z)octadecene), in red blood cells is used to diagnosis plasmalogen synthesis disorders, including retinitis pigmentosa (RP), rhizomelic chondrodysplasia punctata and Zellweger disease spectrum. Schaefer et. al. (1995) found that dominant, recessive, and isolated forms of RP have higher ratios of DMA 16:0/C16:0, DMA 18:0/C18:0 and DMA 18:1n9/C18:1n9 compared to controls. For X-linked RP, only the DMA 18:1n9/C18:1n9 ratio was significantly higher than in controls.[PMID: 7595066] The ratio of DMA 18:0/C18:0 is reportedly lower in patients with In Zellweger syndrome.[PMID: 3760714] | |
| status | ACTIVE | |
Fully-Specified Name | ||
| component | Dimethylacetals pattern | |
| property | Imp = Impression/interpretation of study | |
| 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 | RBC = Erythrocytes | |
| scale | Nar = Narrative: Text narrative, such as the description of a microscopic part of a surgical papule test. | |
| method | ||
Additional Names | ||
| short name | Chemistry; DMA pattern; Erythrocytes; Impression; Impression/interpretation of study; Impressions; Interp; Interpretation; Narrative; Point in time; Random; Red blood cells; Red blood corpusles; Report | |
Basic Attributes | ||
| class | CHEM | |
| type | 1 Laboratory | |
| order vs. observation | DMA pattern RBC | |
History/Usage | ||
| first released | ||
| last updated | 2.54 | |
| last change type | ADD - added | |
Related Names | ||
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