Ehlers-Danlos syndrome multigene analysis in Blood or Tissue by Molecular genetics method 93200-4
LOINC Code
| LOINC code | 93200-4 | ||
|---|---|---|---|
| name | Ehlers-Danlos syndrome multigene analysis in Blood or Tissue by Molecular genetics method | ||
| description | This test includes analysis of multiple genes associated with Ehlers-Danlos Syndrome by molecular genetic methods, such as next generation sequencing and deletion/duplication analysis. Targeted genes include, but are not limited to, ADAMTS2, ATP7A, CHST14, COL1A1, COL1A2, COL3A1, COL5A1, COL5A2, FKBP14, FLNA, and PLOD1. Other labs test more (or fewer) genes. The overall report typically includes the gene evaluated, variant(s) detected, interpretation, test methodology, and recommendations. Mayo website now lists 12 genes (previously 11). The count will likely increase (one lab does 18). | ||
| status | ACTIVE | ||
Fully-Specified Name | |||
| component | Ehlers-Danlos syndrome multigene 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 | 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 | EDS Multigene Anl Bld/T | ||
Basic Attributes | |||
| class | MOLPATH | ||
| type | 1 Laboratory | ||
| order vs. observation | Both | ||
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 | ADD - added | ||
Related Names | |||
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