Rekord LOINC: 99971-4
Dostępne tłumaczenie polskie ACTIVE
Tłumaczenie polskie
Szczegóły rekordu LOINC
Informacje podstawowe
| Kod LOINC: |
99971-4
FHIR
|
| Long Common Name: | Hemophagocytic lymphohistiocytosis multigene analysis in Blood or Tissue by Molecular genetics method |
| Short Name: | HLH multigene analysis 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: | 2.72 |
Definicja i opis
Multigene analysis for hemophagocytic lymphohistiocytosis (HLH), a syndrome characterized by hyperactivation of the immune system, excessive cytokine secretion and severe systemic inflammation. HLH is classified as familial (FHL) when associated with mutations in specific genes, such as PRF1, UNC13D, STX11, and STXBP2 genes.[PMID: 33746956] Testing is performed for diagnostic, prognostic, and therapeutic assessment in patients with HLH.
Powiązane nazwy
Analiza wielogenowa w zespole hemofagocytowym (HLH) diagnostyka molekularna