94224-3
RET gene full mutation analysis in Blood or Tissue by Sequencing
Active
Term Description
Testing includes full sequencing of the RET gene, including all exons 1-20, to identify pathogenic or likely pathogenic mutations associated with various conditions, including multiple endocrine neoplasia type A or B, Hirschsprung disease, or congenital central hypoventilation syndrome.[GHR gene:RET]
Source: Regenstrief LOINC
Part Descriptions
LP150045-5 Sequencing
Sequencing is a method used to determine the sequence of individual genes, larger genetic regions (i.e. clusters of genes or operons), full chromosomes or entire genomes. Historically, most sequencing has been performed using the chain termination method developed by Frederick Sanger in 1977. PMID: 271968 Sequencing technologies have improved dramatically, making them cheaper, faster, and more accurate. Next-generation sequencing (NGS), also known as high-throughput sequencing, deep sequencing, and second-generation sequencing, is a type of technology that uses parallel sequencing of multiple small fragments of DNA to determine sequence. This "high-throughput" technology has increased the speed and amount of DNA sequenced at a significantly reduced cost. PMID: 18576944 Several NGS platforms (ie, sequencing instruments and associated reagents) have been developed. Third-generation sequencing is another methodology currently under development that uses parallel sequencing similar to NGS. In contrast to NGS, third-generation sequencing uses single DNA molecules rather than amplified DNA as a template. PMID: 20858600
Source: Regenstrief LOINC
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 full mutation analysis
- Property
- Find
- Time
- Pt
- System
- Bld/Tiss
- Scale
- Doc
- Method
- Sequencing
Additional Names
- Long Common Name
- RET gene full mutation analysis in Blood or Tissue by Sequencing
- Short Name
- RET gene Full Mut Anl Bld/T Seq
- Display Name
- RET gene full mutation analysis Sequencing 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 2.68
- Last Updated
- Version 2.68
- Order vs. Observation
- Both
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-ES | Spanish (Spain) | Gen RET Análisis de mutación completa: |
| es-MX | Spanish (Mexico) | Análisis de mutación completa del gen RET: |
| fr-FR | French (France) | RET gène analyse complète des mutations: |
| it-IT | Italian (Italy) | RET, gene Analisi di mutazione completa: Synonyms: Gene RET Osservazione Patologia molecolare Punto nel tempo (episodio) Sangue Sangue o Tessuto Tessuto & |
| nl-NL | Dutch (Netherlands) | RET-gen volledige mutatie-analyse: Synonyms: RET gen |
| tr-TR | Turkish (Turkey) | RET geni tam mutasyon analizi: Synonyms: Dizi tayini |
| zh-CN | Chinese (China) | RET 基因 全面突变分析: Synonyms: CDHF12; |
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LOINC Copyright
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