Rekord LOINC: 96977-4
Tylko wersja angielska ACTIVE
Szczegóły rekordu LOINC
Informacje podstawowe
| Kod LOINC: |
96977-4
FHIR
|
| Long Common Name: | Noninvasive prenatal fetal aneuploidy panel - Plasma cell-free+WBC DNA by Dosage of chromosome-specific cfDNA |
| Short Name: | NIP fet aneu Pnl WBC.DNA+cfDNA |
| Status: | ACTIVE |
| Class Type: | 1 |
Fully Specified Name (FSN)
Klasyfikacja
| Class: |
ENPANEL.MOLPATH
|
| Consumer Name: | - |
| Order/Observation: | Order |
| Panel Type: | Panel |
Informacje dodatkowe
| Units Required: | N |
| Example Units: | - |
| UCUM Units: | - |
| Version Last Changed: | 2.70 |
Definicja i opis
This panel includes quantitative and qualitative risk terms for aneuploidies, including trisomy 13, 18 and 21, monosomy X, and triploidy. 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 only 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; Gyn; Gynecology; Leukocytes; Molecular pathology; MOLPATH; NIP fet aneu Pnl; NIPS; Non-invasive prenatal screening; Noninvasive prenatal testing; NPT; OB; ObGyn; Obstetrics; 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...