Preferred Label : Fetal microdeletions risk:Imp:Pt:Plas.cfDNA:Ord:Sequencing;
LOINC status : ACTIVE;
LOINC display name : Microdels risk Sequencing Ql (cfDNA) [Interp];
LOINC long common name : Fetal Microdeletions risk [interpretation] in Plasma cell-free DNA Qualitative by
Sequencing;
LOINC short name : Fet Microdel risk Plas.cfDNA Seq-Imp;
LOINC description : The interpretation (e.g. not detected, increased risk) of chromosomal microdeletions
present in fetal cell-free DNA from maternal plasma. This term was created for, but
not limited in use to, QNatal Advanced, a non-invasive prenatal test which uses massively
parallel sequencing to identify microdeletions in select chromosome regions, including
22q (DiGeorge syndrome), 15q (Prader-Willi/Angelman syndromes), 11q (Jacobsen syndrome),
8q (Langer-Giedion syndrome), 5p (Cri-du-chat syndrome), 4p (Wolf-Hirschhorn syndrome),
and 1p36 deletion syndrome.;
Origin ID : 79212-7;
UMLS CUI : C4070375;
Has component
- Has method
- Has property
- Has scale
- Has system
- Has time aspect
- Part of panel
- Semantic type(s)
