Rekord LOINC: 79212-7
Tylko wersja angielska ACTIVE
Szczegóły rekordu LOINC
Informacje podstawowe
| Kod LOINC: |
79212-7
FHIR
|
| Long Common Name: | Fetal Microdeletions risk [interpretation] in Plasma cell-free DNA Qualitative by Sequencing |
| Short Name: | Fet Microdel risk Plas.cfDNA Seq-Imp |
| Status: | ACTIVE |
| Class Type: | 1 |
Fully Specified Name (FSN)
EN
Oryginalna wersja angielska
Fetal microdeletions risk
:
Imp
:
Pt
:
Plas.cfDNA
:
Ord
:
Sequencing
Klasyfikacja
| Class: |
ENMOLPATH
|
| Consumer Name: | - |
| Order/Observation: | Observation |
| Panel Type: | - |
Informacje dodatkowe
| Units Required: | - |
| Example Units: | - |
| UCUM Units: | - |
| Version Last Changed: | 2.66 |
Definicja i opis
EN
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.
Powiązane nazwy
Genetics; Heredity; Heritable; high-throughput sequencing; HTS; Impression; Impression/interpretation of study; Impressions; Inherited; Interp; Interpretation; Microdel risk; Molecular pathology; MOLPATH; Next generation sequencing; NGS; Ordinal; Pl; Plasma; Plsm; Point in time; QL; Qual; Qualitative; Random; Screen