Rekord LOINC: 69484-4
Tylko wersja angielska ACTIVE
Szczegóły rekordu LOINC
Informacje podstawowe
| Kod LOINC: |
69484-4
FHIR
|
| Long Common Name: | FBN1 gene mutation analysis limited to known familial mutations in Blood or Tissue by Molecular genetics method |
| Short Name: | FBN1 gene Fam Mut Anl Bld/T |
| Status: | ACTIVE |
| Class Type: | 1 |
Fully Specified Name (FSN)
EN
Oryginalna wersja angielska
FBN1 gene mutation analysis limited to known familial mutations
:
Find
:
Pt
:
Bld/Tiss
:
Doc
:
Molgen
Klasyfikacja
| Class: |
ENMOLPATH.MUT
|
| Consumer Name: | - |
| Order/Observation: | Both |
| Panel Type: | - |
Informacje dodatkowe
| Units Required: | N |
| Example Units: | - |
| UCUM Units: | - |
| Version Last Changed: | 2.66 |
Definicja i opis
EN
This term is used for carrier or diagnostic testing for at-risk relatives of an affected individual who has a previously identified known genetic mutation within the FBN1 gene. Mutation analysis only includes testing for the known familial mutation(s).
Powiązane nazwy
ACMICD; Blood; Document; ECTOL1; Fam Mut Anl; FBN; fibrillin 1; Fibrillin 1 (Marfan syndrome); Finding; Findings; Genetics; GPHYSD2; Heredity; Heritable; Inherited; LMTED; LTD; MASS; MFS1; Molecular genetics; Molecular pathology; MOLPATH; MOLPATH.MUTATIONS; Mut; Mutation; Mutations; Muts; OCTD; PCR; Point in time; Random; SGS; SSKS; Tissue; Tissue, unspecified; WB; Weill-Marchesani syndrome; Whole blood; Whole blood or Tissue; WMS; WMS2