94190-6
LOINC Code
| LOINC code | 94190-6 | |
|---|---|---|
| name | ||
| description | Full gene sequence analysis is performed to test for the presence of a mutation in the coding regions and intron/exon boundaries of the BPGM gene. Mutations in this gene result in a deficiency of 2,3-bisphosphoglycerate (2,3-BPG) and can cause hereditary erythrocytosis.[GHR gene: BPGM] | |
| status | ACTIVE | |
Fully-Specified Name | ||
| component | BPGM gene 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 | Sequencing | |
Additional Names | ||
| short name | bisphosphoglycerate mutase; Blood; Document; DPGM; ECYT8; Finding; Findings; full gene sequencing; Full Mut Anl; Genetics; Heredity; Heritable; high-throughput sequencing; HTS; Inherited; Molecular pathology; MOLPATH; Mut; Mutations; Next generation seque | |
Basic Attributes | ||
| class | MOLPATH | |
| type | 1 Laboratory | |
| order vs. observation | BPGM Full Mut A | |
History/Usage | ||
| first released | ||
| last updated | 2.68 | |
| last change type | ADD - added | |
Related Names | ||
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