FXN gene.GAA repeats:PrThr:Pt:Amnio fld/CVS:Ord:Molgen

Preferred Label : FXN gene.GAA repeats:PrThr:Pt:Amnio fld/CVS:Ord:Molgen;

LOINC status : ACTIVE;

LOINC display name : FXN gene GAA repeats Molgen Ql (Amnio fld/CVS);

LOINC long common name : FXN gene GAA repeats [Presence] in Amniotic fluid or Chorionic villus sample by Molecular genetics method;

LOINC short name : FXN gene GAA Rpt Amn/CVS Ql;

LOINC description : Prenatal diagnosis of Friedreich's Ataxia (FRDA) by detecting the presence of a GAA expansion in the FXN gene in amniotic fluid or chorionic villus sample (CVS). This test may be performed when there is a family history of a GAA expansion, primarily if both parents are known carriers.;

Details

Origin ID

75392-1;

UMLS CUI

C3870432;

Has component
- FXN gene [LOINC component]
- FXN gene GAA repeats [LOINC component]
- Gene [LOINC component]
Has method
- Molecular genetics [LOINC method]
Has property
- Presence or Threshold [LOINC Property]
Has scale
- Ord [LOINC scale]
Has system
- Amniotic fluid [LOINC System]
- Amniotic fluid or Chorionic villus sample [LOINC System]
- Chorionic villus sample [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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