21733-1
RET gene mutations found [Identifier] in Blood or Tissue by Targeted gene mutation analysis Nominal
Active
Term Description
Hirschsprung disease;medullary thyroid carcinoma
Part Descriptions
LP19763-9 RET gene
Multiple Endocrine Neoplasia (MEN) is caused by mutations in the RET gene. The RET gene is located on the long arm of chromosome 10 at position 11.2. More than 25 mutations have been identified as causing type 2 MEN. Most of these mutations change a single amino acid in the RET protein. More than 90% of MEN type 2B is caused by the M918T mutation which replaces amino acid methionine with threonine at position 918. MEN2B mutations result in overactive RET protein that can transmit signals without first attaching to growth factors outside the cell. The overactive protein may trigger abnormal cell growth and division, leading to formation of endocrine tumors. MEN2B mutations are found in 100% of the cases of medullary carcinoma of the thyroid and 50% of cases of pheochromocytoma, as well as with mucosal neuromas and Marfanoid body habitus. Information from ARUP Laboratories and Genetics Home [email protected], accessed 2007 09 25.
Source: Regenstrief Institute
LP19763-9 RET gene
The RET gene (ret proto-oncogene) [HGNC Gene ID:9967] is located on chromosome 10q11.2. This gene, a member of the cadherin superfamily, encodes one of the receptor tyrosine kinases, which are cell-surface molecules that transduce signals for cell growth and differentiation. This gene plays a crucial role in neural crest development, and it can undergo oncogenic activation in vivo and in vitro by cytogenetic rearrangement. Mutations in this gene are associated with the disorders multiple endocrine neoplasia, type IIA, multiple endocrine neoplasia, type IIB, Hirschsprung disease, and medullary thyroid carcinoma. Two transcript variants encoding different isoforms have been found for this gene. Additional transcript variants have been described but their biological validity has not been confirmed. [provided by RefSeq, Jul 2008] [NCBI Gene ID:5979]
Source: National Center for Biotechnology Information (NCBI) Gene
LOINC Names Get Info
- Fully-Specified Name
- RET gene mutations:
Prid: Pt: Bld/Tiss: Nom: Targeted gene mutation analysis - Long Common Name
- RET gene mutations found [Identifier] in Blood or Tissue by Targeted gene mutation analysis Nominal
- Short Name
- RET gene Mut Bld/T Mut Anl
- Display Name
- RET gene mutations found Targeted gene mutation analysis Nom (Bld/Tiss)
- Consumer Name Alpha Get Info
- RET gene mutations found, Blood or tissue specimen
Part Model Get Info
- Component
- RET gene mutations
LP451937-9
- Analyte
- RET gene mutations
LP451937-9
- Component Numerator
- RET gene mutations
LP451937-9
- Component Numerator Core
- RET gene
LP19763-9
- 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
- 12356
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| cs-CZ | Czech (Czechia) | Gen RET cílená mutační analýza: |
| el-GR | Greek (Greece) | Γονίδιο RET στοχευμένη ανάλυση μεταλλάξεων: Synonyms: MOLPATH MOLPATH.MUT Nom Prid Pt Αίμα Αίμα/Ιστός Γονίδιο Γονίδιο RET Ιστός Μοριακή γενετική στοχευμένη ανάλυση μεταλλάξεων |
| es-AR | Spanish (Argentina) | análisis de mutación del gen RET: |
| es-ES | Spanish (Spain) | Gen RET Analisis de mutaciones: |
| es-MX | Spanish (Mexico) | Análisis de mutaciones dirigidas al gen RET: |
| fr-FR | French (France) | RET gène mutation cible trouvée: |
| it-IT | Italian (Italy) | RET, gene analisi di mutazione mirata: Synonyms: Gene RET Genetica molecolare Mutazione genica Patologia molecolare Presenza o Identità Punto nel tempo (episodio) Sangue Sangue o Tessuto Tessuto & |
| ko-KR | Korean (Korea, Republic Of) | RET 유전자 돌연변이 분석: |
| nl-NL | Dutch (Netherlands) | RET-gen doelgerichte mutatie-analyse: Synonyms: molgen RET gen targeted |
| pl-PL | Polish (Poland) | RET gen ukierunkowana analiza mutacji: Synonyms: Analiza mutacji genu RET diagnostyka molekularna Gen RET wynik kategorialny |
| pt-BR | Portuguese (Brazil) | RET análise de mutação genética: Synonyms: C-RET; |
| ru-RU | Russian (Russian Federation) | RET ген исследование на мутацию: Synonyms: Кровь Кровь или Ткань Номинальный; |
| tr-TR | Turkish (Turkey) | RET geni Mutasyon analizi: |
| zh-CN | Chinese (China) | RET 基因 突变分析: Synonyms: CDHF12; |
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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://