101386-1
RET gene deletion+duplication and full mutation analysis in Blood or Tissue by Molecular genetics method
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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 Reference@ghr.nlm.nih.gov, 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
Fully-Specified Name
- Component
- RET gene deletion+duplication & full mutation analysis
- Property
- Find
- Time
- Pt
- System
- Bld/Tiss
- Scale
- Doc
- Method
- Molgen
Additional Names
- Short Name
- RET gene Del+Dup + Full Mut Anl Bld/T
- Display Name
- RET gene del+dup and full mutation analysis Molgen Doc (Bld/Tiss)
- Consumer Name Alpha Get Info
- RET gene variant analysis, Blood or tissue specimen
Basic Attributes
- Class
- MOLPATH
- Type
- Laboratory
- First Released
- Version 2.74
- Last Updated
- Version 2.75
- Order vs. Observation
- Both
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-ES | Spanish (Spain) | Gen RET estudio delecion+duplicacion y estudio mutacional completo: |
| fr-FR | French (France) | RET gène délétion+duplication et gène analyse complète des mutations: |
| it-IT | Italian (Italy) | RET, gene Delezione+duplicazione & analisi di mutazione completa: Synonyms: delezione e duplicazione Gene RET Genetica molecolare Osservazione Patologia molecolare Punto nel tempo (episodio) Sangue Sangue o Tessuto Tessuto & |
| nl-NL | Dutch (Netherlands) | RET-gen deletie + duplicatie & volledige mutatie analyse: Synonyms: molgen RET gen |
| tr-TR | Turkish (Turkey) | RET geni delesyon+duplikasyon ve tam mutasyon analizi: Synonyms: çiftleme |
| zh-CN | Chinese (China) | RET 基因 缺失+重复与全面的突变分析: Synonyms: CDHF12; |
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LOINC Copyright
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