21743-0
WT1 gene mutations tested for in Blood or Tissue by Molecular genetics method Nominal
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Part Descriptions
LP19772-0 WT1 gene
WT1 gene encodes a transcription factor that contains four zinc-finger motifs at the C-terminus and a proline/glutamine-rich DNA-binding domain at the N-terminus. It has an important role in cell growth and differentiation. Initially isolated as the gene responsible for Wilms' tumor, it is implicated in several cancers. WT1 is expressed at high levels in most acute myeloid leukemias, AML (and in ALL too), making it a tumor marker for leukemic blasts. It is also expressed at high levels in solid tumors. The WT1 gene expression is used as a specific molecular marker to improve diagnosis, prognosis and follow-up of adult acute myeloid leukemia (AML) patients. Early decreased expression of WT1 copy number in peripheral blood predicts better outcome for AML patients. Regarding mutations, multiple transcript variants, resulting from alternative splicing at two coding exons, have been well characterized. There is also evidence for the use of non-AUG (CUG) translation initiation site upstream of, and in-frame with the first AUG, leading to additional isoforms. Authors of PMID: 7926762 also provide evidence that WT1 mRNA undergoes RNA editing in human and rat, and that this process is tissue-restricted and developmentally regulated.
Source: Regenstrief LOINC
LP19772-0 WT1 gene
The WT1 gene (Wilms tumor 1) [HGNC Gene ID:12796] is located on chromosome 11p13. This gene encodes a transcription factor that contains four zinc-finger motifs at the C-terminus and a proline/glutamine-rich DNA-binding domain at the N-terminus. It has an essential role in the normal development of the urogenital system, and it is mutated in a small subset of patients with Wilm's tumors. This gene exhibits complex tissue-specific and polymorphic imprinting pattern, with biallelic, and monoallelic expression from the maternal and paternal alleles in different tissues. Multiple transcript variants have been described. In several variants, there is evidence for the use of a non-AUG (CUG) translation initiation site upstream of and in-frame with the first AUG. Authors of PMID: 7926762 also provide evidence that WT1 mRNA undergoes RNA editing in human and rat, and that this process is tissue-restricted and developmentally regulated. [provided by RefSeq, Oct 2010] [NCBI Gene ID:7490]
Source: National Center for Biotechnology Information (NCBI) Gene
Fully-Specified Name
- Component
- WT1 gene mutations tested for
- Property
- Prid
- Time
- Pt
- System
- Bld/Tiss
- Scale
- Nom
- Method
- Molgen
Additional Names
- Long Common Name
- WT1 gene mutations tested for in Blood or Tissue by Molecular genetics method Nominal
- Short Name
- WT1 gene Mut Tested Bld/T
- Display Name
- WT1 gene mutations tested for Molgen Nom (Bld/Tiss)
- Consumer Name Alpha Get Info
- WT1 gene variants tested for, Blood or tissue specimen
Basic Attributes
- Class
- MOLPATH.MUT
- Type
- Laboratory
- First Released
- Version 1.0m
- Last Updated
- Version 2.13
- Order vs. Observation
- Observation
Language Variants Get Info
Tag | Language | Translation |
---|---|---|
es-AR | Spanish (Argentina) | determinación de mutaciones del gen WT1: |
es-ES | Spanish (Spain) | Gen WT1 Análisis de mutaciones para...: |
es-MX | Spanish (Mexico) | Mutaciones del gen WT1 analizadas para: |
fr-FR | French (France) | WT1 gène mutations recherchées: |
it-IT | Italian (Italy) | WT1, gene, mutazioni testate per: Synonyms: Gene WT1 Genetica molecolare Mutazione genica Patologia molecolare Presenza o Identità Punto nel tempo (episodio) Sangue Sangue o Tessuto Tessuto & |
ko-KR | Korean (Korea, Republic Of) | WT1 유전자 돌연변이 검사용: |
nl-NL | Dutch (Netherlands) | WT1-gen geteste mutaties: Synonyms: molgen WT1 gen |
pt-BR | Portuguese (Brazil) | WT1 teste para mutação do gene: Synonyms: Wilms tumor 1; |
ru-RU | Russian (Russian Federation) | WT1 ген мутации тестирован на: Synonyms: Кровь Кровь или Ткань Номинальный; |
tr-TR | Turkish (Turkey) | WT1 geni mutasyonlar, test edilen: |
zh-CN | Chinese (China) | WT1 基因 已测试的突变: Synonyms: GUD GUD; |
LOINC Terminology Service (API) using HL7® FHIR® Get Info
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- CodeSystem lookup
- https:
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