115589-4
LOINC Code
| LOINC code | 115589-4 | |
|---|---|---|
| name | ||
| status | ACTIVE | |
Fully-Specified Name | ||
| component | BCKDHB gene mutations | |
| property | Prid = Presence or identity: Prid stands for “Presence or identity”, is used for assays that detect whether or not an analyte of a particular kind is present, and if it is, to identify the specific analyte. | |
| 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 | Nom = Nominal: Nominal or categorical responses that do not have a natural ordering. (e.g., names of bacteria, reported as answers, categories of appearance that do not have a natural ordering, such as, yellow, clear, bloody. | |
| method | Targeted gene mutation analysis | |
Additional Names | ||
| short name | BCKDE1B; BCKDH E1-beta; Blood; Branch chain ketoaciduria; branched chain keto acid dehydrogenase E1, beta polypeptide; E1B; Identity or presence; Maple syrup urine disease; Molecular pathology; MOLPATH; Mut; Mut Anl; Mutation; Mutations; Muts; Nominal; Po | |
Basic Attributes | ||
| class | MOLPATH | |
| type | 1 Laboratory | |
| order vs. observation | BCKDHB Mut Bld/ | |
| formula (readable) | If SMN1 is 2 AND the SMN1 SNP is not detected, or SMN1 is 3, >=3 or >=4 then DNR SMN2 Copy number in Gene result. IF SMN1 is 0, 1, or 2 AND the SMN1 SNP is detected, or SMN1 >=2 AND SNP is detected then report SMN2 copy number in Gene results | |
History/Usage | ||
| first released | ||
| last updated | 2.83 | |
| last change type | ADD - added | |
Related Names | ||
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