Rekord LOINC: 97565-6
Dostępne tłumaczenie polskie ACTIVE
Tłumaczenie polskie
Szczegóły rekordu LOINC
Informacje podstawowe
| Kod LOINC: |
97565-6
FHIR
|
| Long Common Name: | B-cell primary immunodeficiency multigene analysis in Blood or Tissue by Molecular genetics method |
| Short Name: | B-cell PI multigene Bld/T |
| Status: | ACTIVE |
| Class Type: | 1 |
Fully Specified Name (FSN)
Klasyfikacja
| Class: |
PLpatologia molekularna
ENMOLPATH
|
| Consumer Name: | - |
| Order/Observation: | Both |
| Panel Type: | - |
Informacje dodatkowe
| Units Required: | N |
| Example Units: | - |
| UCUM Units: | - |
| Version Last Changed: | 2.70 |
Definicja i opis
This test includes analysis of multiple genes associated with primary B-cell disorders/humoral immunodeficiencies. Testing is performed for patients with a personal or family history to establish a diagnosis and determine appropriate management of disease based on the gene involved. Targeted genes include, but are not limited to, AICDA, BLNK, BTK, CD79A, CD79B (B29), CARD11, CD19, CD27, CD40, CD40LG, CD81, CR2 (CD21), CXCR4, GATA2, ICOS, IGHM, IGLL1 (Lambda5), IKZF1 (IKAROS), LRBA, LRRC8A, MALT1, MS4A1 (CD20), NFKB2, PIK3R1, PIK3CD, PLCG2, PRKCD, RNF168, SH2D1A, TCF3 (E47), TNFRSF13B (TACI), TNFRSF13C, TNFSF12 (TWEAK), and UNG. The overall collection of information typically includes the gene evaluated, variant(s) detected, interpretation, test methodology, and recommendations.
Powiązane nazwy
Analiza wielogenowa w kierunku niedoborów odporności humoralnej diagnostyka molekularna