Rekord LOINC: 97656-3
Dostępne tłumaczenie polskie ACTIVE
Tłumaczenie polskie
Szczegóły rekordu LOINC
Informacje podstawowe
| Kod LOINC: |
97656-3
FHIR
|
| Long Common Name: | Hereditary cancer multigene analysis in Blood or Tissue by Molecular genetics method |
| Short Name: | Hereditary Cancer Multigene Anl 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
Multigene testing for heritable germline mutations in genes associated with cancer in various organ systems, including breast and gynecologic (breast, ovarian, uterine), gastrointestinal (colorectal, gastric, pancreatic), endocrine (thyroid, paraganglioma/pheochromocytoma, parathyroid, pituitary), genitourinary (renal/urinary tract, prostate), skin (melanoma, basal cell carcinoma), brain/nervous system, and bone/soft tissue (sarcoma) & blood (myelodysplastic syndrome/leukemia). Testing is performed to confirm a diagnosis and help guide treatment and management decisions. Identification of a disease-causing variants may also used to inform at-risk relatives. Approximately 5-10 percent of cancers are thought to be hereditary.[PMID: 15637391] This test is not appropriate for the detection of somatic mutations in tumor tissue since it is focused on heritable germline mutations.
Powiązane nazwy
Analiza wielogenowa w kierunku nowotworów dziedzicznych diagnostyka molekularna