21742-2
WT1 gene mutations found [Identifier] in Blood or Tissue by Targeted gene mutation analysis Nominal
Active
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
LOINC Names Get Info
- Fully-Specified Name
- WT1 gene mutations:
Prid: Pt: Bld/Tiss: Nom: Targeted gene mutation analysis - Long Common Name
- WT1 gene mutations found [Identifier] in Blood or Tissue by Targeted gene mutation analysis Nominal
- Short Name
- WT1 gene Mut Bld/T Mut Anl
- Display Name
- WT1 gene mutations found Targeted gene mutation analysis Nom (Bld/Tiss)
- Consumer Name Alpha Get Info
- WT1 gene mutations found, Blood or tissue specimen
Part Model Get Info
- Component
- WT1 gene mutations
LP451941-1
- Analyte
- WT1 gene mutations
LP451941-1
- Component Numerator
- WT1 gene mutations
LP451941-1
- Component Numerator Core
- WT1 gene
LP19772-0
- Component Numerator Core Suffix
- mutations
LP452208-4
- Component Denominator
- NULL
- Component Denominator Core
- NULL
- Component Denominator Core Suffix
- NULL
- Challenge
- NULL
- Adjustment
- NULL
- Count
- NULL
- Property
- Prid
LP6850-4
- Time
- Pt
LP6960-1
- Time Core
- Pt
LP6960-1
- Time Modifier
- NULL
- System
- Bld/Tiss
LP7061-7
- System Core
- Bld/Tiss
LP7061-7
- Super System
- NULL
- Scale
- Nom
LP7750-5
- Method
- Targeted gene mutation analysis
LP95475-7
Basic Attributes
- Class
- MOLPATH.MUT
- Type
- Laboratory
- First Released
- Version 1.0m
- Last Updated
- Version 2.83 (NAM)
- Change Reason
- Based on LOINC Committee review (June 2016), "targeted" was added to the Component to clarify that this test is looking for a specific set of mutations as described in the LOINC User Guide under the Molecular Genetics section.
- Order vs. Observation
- Both
- Common Test Rank Get Info
- 16421
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| cs-CZ | Czech (Czechia) | Gen WT1 cílená mutační analýza: |
| el-GR | Greek (Greece) | Γονίδιο WT1 στοχευμένη ανάλυση μεταλλάξεων: Synonyms: MOLPATH MOLPATH.MUT Nom Prid Pt Αίμα Αίμα/Ιστός Γονίδιο Γονίδιο WT1 Ιστός Μοριακή γενετική στοχευμένη ανάλυση μεταλλάξεων |
| es-AR | Spanish (Argentina) | análisis de mutación del gen WT1: |
| es-ES | Spanish (Spain) | Gen WT1 Analisis de mutaciones: |
| es-MX | Spanish (Mexico) | Análisis de mutaciones dirigidas al gen WT1: |
| fr-FR | French (France) | WT1 gène mutation cible trouvée: |
| it-IT | Italian (Italy) | WT1, gene analisi di mutazione mirata: 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 분석: |
| nl-NL | Dutch (Netherlands) | WT1-gen doelgerichte mutatie-analyse: Synonyms: molgen targeted WT1 gen |
| pl-PL | Polish (Poland) | WT1 gen ukierunkowana analiza mutacji: Synonyms: Analiza mutacji genu WT1 diagnostyka molekularna Gen WT1 wynik kategorialny |
| pt-BR | Portuguese (Brazil) | WT1 análise de mutação genética: Synonyms: Wilms tumor 1; |
| ru-RU | Russian (Russian Federation) | WT1 ген исследование на мутацию: Synonyms: Кровь Кровь или Ткань Номинальный; |
| tr-TR | Turkish (Turkey) | WT1 geni Mutasyon analizi: |
| zh-CN | Chinese (China) | WT1 基因 突变分析: Synonyms: GUD GUD; |
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LOINC Copyright
Copyright © Regenstrief Institute, Inc. All Rights Reserved. To the extent included herein, the LOINC table and LOINC codes are copyright © Regenstrief Institute, Inc. and the Logical Observation Identifiers Names and Codes (LOINC) Committee. See https://