Rekord LOINC: 94587-3
Tylko wersja angielska ACTIVE
Szczegóły rekordu LOINC
Informacje podstawowe
| Kod LOINC: |
94587-3
FHIR
|
| Long Common Name: | Germline disorder chromosome analysis in Amniotic fluid or Chorionic villus sample by Mate pair sequencing |
| Short Name: | Germline chromo analy Amn/CVS MPSeq |
| Status: | ACTIVE |
| Class Type: | 1 |
Fully Specified Name (FSN)
Klasyfikacja
| Class: |
ENMOLPATH
|
| Consumer Name: | - |
| Order/Observation: | Both |
| Panel Type: | - |
Informacje dodatkowe
| Units Required: | - |
| Example Units: | - |
| UCUM Units: | - |
| Version Last Changed: | 2.68 |
Definicja i opis
This term is used for the order & overall report for chromosome analysis by sequencing methods, such as mate pair sequencing, for the detection of germline (congenital) chromosome abnormalities in amniotic fluid or chorionic villus sampling (CVS) specimens. Results may include the overall findings, the result in ISCN format, testing methods, interpretation, recommendations, and references. Testing is performed when previous cytogenetic studies are unsuccessful or detect a chromosome abnormality of unknown significance. Results provide diagnostic, prognostic, and therapeutic information for patient care.
Powiązane nazwy
AF; Amn; Amn fl; Amn/CVS; Amnio; Amniotic flu; Amniotic fluid; Chorionic villi; Chorionic villus sample; Chrom analy; Chromosom; Chromosomes; Cytogenetics; Document; Finding; Findings; Genetics; Germline disorder chromo analy; Heredity; Heritable; high-throughput sequencing; HTS; Inherited; Karyotype; Molecular pathology; MOLPATH; MPSeq; Next generation sequencing; NGS; Point in time; Random