94210-2
LOINC Code
| LOINC code | 94210-2 | |
|---|---|---|
| name | ||
| description | Full gene mutation analysis of all 8 exons in the ARSB gene is performed for the confirmation of a diagnosis of mucopolysaccharidosis type VI, an autosomal recessive condition characterized by reduced or absent activity of the arylsulfatase B enzyme due to mutations in the ARSB gene.[GHR gene: ARSB] | |
| status | ACTIVE | |
Fully-Specified Name | ||
| component | ARSB 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 | arylsulfatase B; Blood; Document; Finding; Findings; full gene sequencing; Full Mut Anl; G4S; Genetics; Heredity; Heritable; high-throughput sequencing; HTS; Inherited; Molecular pathology; MOLPATH; MPS6; Mut; Mutations; Next generation sequencing; NGS; P | |
Basic Attributes | ||
| class | MOLPATH | |
| type | 1 Laboratory | |
| order vs. observation | ARSB Full Mut A | |
History/Usage | ||
| first released | ||
| last updated | 2.68 | |
| last change type | ADD - added | |
Related Names | ||
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