Rekord LOINC: 75547-0

Tylko wersja angielska ACTIVE

Powrót do listy LOINC

Szczegóły rekordu LOINC

Informacje podstawowe

Kod LOINC:	`75547-0` FHIR
Long Common Name:	Noninvasive prenatal fetal aneuploidy and microdeletion panel based on Plasma cell-free+WBC DNA by Dosage of chromosome-specific circulating cell free (ccf) DNA
Short Name:	NIP aneu microdel pnl WBC.DNA+cfDNA
Status:	ACTIVE
Class Type:	1

Fully Specified Name (FSN)

EN Oryginalna wersja angielska

Noninvasive prenatal fetal aneuploidy and microdeletion panel : - : Pt : WBC.DNA+Plas.cfDNA : - : Dosage of chromosome specific cf DNA

Klasyfikacja

Class:	ENPANEL.MOLPATH
Consumer Name:	-
Order/Observation:	Order
Panel Type:	Panel

Informacje dodatkowe

Units Required:	-
Example Units:	-
UCUM Units:	-
Version Last Changed:	2.73

Definicja i opis

EN 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 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.

Powiązane nazwy

Chromosom; Chromosomes; Leukocytes; Molecular pathology; MOLPATH; NIP fet aneu microdel pnl; Pan; Panel.molpath; Panl; Pl; Plasma; Plsm; Pnl; Point in time; Random; Spec; WBC.DNA+cfDNA; WBCs; White blood cells

Struktura panelu

Ładowanie struktury panelu...