93200-4
Ehlers-Danlos syndrome multigene analysis in Blood or Tissue by Molecular genetics method
Active
Term 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).
Source: Regenstrief LOINC
Fully-Specified Name
- Component
- Ehlers-Danlos syndrome multigene analysis
- Property
- Find
- Time
- Pt
- System
- Bld/Tiss
- Scale
- Doc
- Method
- Molgen
Additional Names
- Short Name
- EDS Multigene Anl Bld/T
- Display Name
- Ehlers-Danlos syndrome multigene analysis Molgen Doc (Bld/Tiss)
- Consumer Name Alpha Get Info
- Ehlers-Danlos syndrome multigene analysis, Blood or tissue specimen
Basic Attributes
- Class
- MOLPATH
- Type
- Laboratory
- First Released
- Version 2.67
- Last Updated
- Version 2.67
- Order vs. Observation
- Both
Language Variants Get Info
Tag | Language | Translation |
---|---|---|
es-ES | Spanish (Spain) | Análisis multigénico del síndrome de Ehlers-Danlos: |
es-MX | Spanish (Mexico) | Análisis multigénico del síndrome de Ehlers-Danlos: |
fr-FR | French (France) | Analyse multigénique d'un syndrome d'Ehlers-Danlos: |
it-IT | Italian (Italy) | Sindrome di Ehlers-Danlos, analisi multigene: Synonyms: Analisi multigene di sindrome di sindrome di Ehlers-Danlos Genetica molecolare Osservazione Patologia molecolare Punto nel tempo (episodio) Sangue Sangue o Tessuto Tessuto & |
zh-CN | Chinese (China) | 埃勒斯-当洛斯综合征多基因分析: Synonyms: 临床文档型; |
LOINC Terminology Service (API) using HL7® FHIR® Get Info
Requests to this service require a free LOINC username and password. Below is a sample of the possible capabilities. See the LOINC Terminology Service documentation for more information.
- CodeSystem lookup
- https:
//fhir.loinc.org/CodeSystem/$lookup?system=http: //loinc.org&code=93200-4
LOINC Copyright
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