Ehlers-Danlos syndrome multigene analysis:Find:Pt:Bld/Tiss:Doc:Molgen

Preferred Label : Ehlers-Danlos syndrome multigene analysis:Find:Pt:Bld/Tiss:Doc:Molgen;

LOINC status : ACTIVE;

LOINC display name : Ehlers-Danlos syndrome multigene analysis Molgen Doc (Bld/Tiss);

LOINC long common name : Ehlers-Danlos syndrome multigene analysis in Blood or Tissue by Molecular genetics method;

LOINC short name : EDS Multigene Anl Bld/T;

LOINC 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).;

Details

Origin ID

93200-4;

UMLS CUI

C5211638;

Has component
- Ehlers-Danlos syndrome multigene analysis [LOINC component]
Has method
- Molecular genetics [LOINC method]
Has property
- Finding [LOINC Property]
Has scale
- Doc [LOINC scale]
Has system
- Blood [LOINC System]
- Blood or Tissue [LOINC System]
- Tissue and Smears [LOINC System]
Has time aspect
- Point in time (spot) [LOINC time aspect]
Semantic type(s)
- Clinical Attribute [UMLS semantic type]

Keyword's position in hierarchy(ies) :

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