35379-7
HNPCC genes mutations found [Identifier] in Blood or Tissue by Molecular genetics method Nominal
Active
Part Description
LP33199-8 HNPCC genes
Lynch syndrome (HNPCC or Hereditary nonpolyposis colorectal cancer ) is an autosomal dominant genetic condition which has a high risk of colon cancer as well as other cancers including endometrium, ovary, stomach, small intestine, hepatobiliary tract, upper urinary tract, brain, and skin. The increased risk for these cancers is due to inherited mutations that impair DNA mismatch repair.
HNPCC defects in DNA mismatch repair lead to microsatellite instability, also known as MSI-H, which is a hallmark of HNPCC. MSI is identifiable in cancer specimens in the pathology laboratory. Most cases result in changes in the lengths of dinucleotide repeats of the nucleobases cytosine and adenine (sequence: CACACACACA...).
HNPCC is known to be associated with mutations in genes involved in the DNA mismatch repair pathway:
MSH2
MLH1
MSH6
PMS2
PMS1
TGFBR2
MLH3
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Source: Wikipedia, Wikipedia
Fully-Specified Name
- Component
- HNPCC genes targeted mutation analysis
- Property
- Prid
- Time
- Pt
- System
- Bld/Tiss
- Scale
- Nom
- Method
- Molgen
Additional Names
- Short Name
- HNPCC genes Mut Anl Bld/T
- Display Name
- HNPCC genes targeted mutation analysis Molgen Nom (Bld/Tiss)
- Consumer Name Alpha Get Info
- HNPCC genes targeted mutation analysis, Blood or tissue specimen
Basic Attributes
- Class
- MOLPATH.MUT
- Type
- Laboratory
- First Released
- Version 2.13
- Last Updated
- Version 2.73
- Change Reason
- Changed "gene" to "genes" in Component since multiple genes to clarify that "HNPCC" is the disease acrynoym and not an approved HGNC gene name. This change also clarifies that multiple genes are being analyzed. 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
- 14276
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-ES | Spanish (Spain) | Gen HNPCC Analisis de mutaciones: |
| es-AR | Spanish (Argentina) | gen HNPCC: |
| es-MX | Spanish (Mexico) | Análisis de mutaciones dirigidas a genes HNPCC: |
| fr-FR | French (France) | HNPCC gènes mutation cible trouvée: |
| it-IT | Italian (Italy) | HNPCC, gene analisi di mutazione mirata: Synonyms: Gene HNPCC Genetica molecolare Mutazione genica Patologia molecolare Presenza o Identità Punto nel tempo (episodio) Sangue Sangue o Tessuto Tessuto & |
| ko-KR | Korean (Korea, Republic Of) | HNPCC 유전자 돌연변이 분석: |
| nl-NL | Dutch (Netherlands) | HNPCC-gen doelgerichte mutatie-analyse: Synonyms: HNPCC gen molgen targeted |
| pt-BR | Portuguese (Brazil) | HNPCC análise de mutação genética: Synonyms: Hereditary Nonpolyposis Colorectal Cancer; |
| ru-RU | Russian (Russian Federation) | HNPCC ген исследование на мутацию: Synonyms: Кровь Кровь или Ткань Номинальный; |
| tr-TR | Turkish (Turkey) | HNPCC geni Mutasyon analizi: |
| zh-CN | Chinese (China) | HNPCC 基因 突变分析: Synonyms: HNPCC; |
LOINC Terminology Service (API) using HL7® FHIR® Get Info
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- CodeSystem lookup
- https:
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