CFTR gene & FMR1 gene CGG repeat & SMN1 gene mutation analysis:Find:Pt:Bld/Tiss:Doc:Molgen

Preferred Label : CFTR gene & FMR1 gene CGG repeat & SMN1 gene mutation analysis:Find:Pt:Bld/Tiss:Doc:Molgen;

LOINC status : ACTIVE;

LOINC display name : CFTR and FMR1 (CGG repeat) and SMN1 gene mutation analysis Molgen Doc (Bld/Tiss);

LOINC long common name : CFTR and FMR1 (CGG repeat) and SMN1 gene mutation analysis in Blood or Tissue by Molecular genetics method;

LOINC short name : CFTR FMR1 SMN1 Mut Anl Bld/T;

LOINC description : Reproductive carrier screening is performed during preconception or prenatally to determine the risk for passing on serious inherited genetic conditions to a child. Most carrier screening is for recessive disorders. This test includes screening for the following conditions: cystic fibrosis (CF, CFTR gene), fragile X (FXS, FMR1 gene), and spinal muscular atrophy (SMA, SMN1 gene).;

Details

Origin ID

98038-3;

UMLS CUI

C5452614;

Has component
- CFTR and FMR1 (CGG repeat) and SMN1 gene mutation analysis [LOINC component]
- CFTR gene [LOINC component]
- FMR1 gene [LOINC component]
- FMR1 gene CGG [LOINC component]
- Gene [LOINC component]
- SMN1 gene [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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