Preferred Label : Noninvasive prenatal fetal aneuploidy & 22q11.2 deletion panel:-:Pt:WBC.DNA Plas.cfDNA:-:Dosage
of chromosome specific cf DNA;
LOINC status : ACTIVE;
LOINC display name : Noninvasive prenatal fetal aneuploidy and 22q11.2 deletion panel Dosage of chromosome-specific
cfDNA (Plasma cell-free WBC DNA);
LOINC long common name : Noninvasive prenatal fetal aneuploidy and 22q11.2 deletion panel - Plasma cell-free
WBC DNA by Dosage of chromosome-specific cfDNA;
LOINC short name : NIP aneu 22q11.2 Pnl WBC.DNA cfDNA;
LOINC description : This panel includes quantitative and qualitative risk terms for aneuploidies, including
trisomy 13, 18 and 21, monosomy X, and triploidy, as well as the 22q11.2 microdeletion.
Noninvasive prenatal screening is used to assess fetal risk for various genetic conditions
without requiring invasive maternal procedures such as amniocentesis or chorionic
villus sampling. Cell-free DNA (cfDNA) in maternal plasma comes from both fetal and
maternal sources, and depending on the technology used, this DNA can be used to determine
fetal risk for a variety of conditions including aneuploidy (e.g., trisomy 21, monosomy
X) and microdeletions (e.g., 22q11.2 deletion). This panel was developed for, but
is not limited in use to, Natera's Panorama aneuploidy 22q11.2 deletion prenatal
test, which incorporates SNP analysis of maternal white blood cell DNA with combined
maternal and fetal cfDNA SNP analysis. Natera's proprietary informatics analysis method
(NATUS) effectively subtracts the maternal genotype from the cfDNA genotype and analyzes
the remaining fetal cfDNA genotype for certain aneuploidies and microdeletion syndromes.;
Origin ID : 96978-2;
UMLS CUI : C5452118;
Has component
- Has method
- Has system
- Has time aspect
- Panel of LOINC codes
- Semantic type(s)
