95786-0
Gene XXX mutation analysis limited to known familial mutations in Blood or Tissue by Molecular genetics method
Active
Term Description
Carrier or diagnostic testing for at-risk relatives of an affected individual who has a previously identified known genetic mutation. Mutation analysis only includes testing for the known familial mutation(s). To report the gene(s) tested, use Gene studied [ID] [LOINC: 48018-6]. To report the specific variant(s) tested, use the gene mutations tested term [LOINC: 36908-2].
Source: Regenstrief LOINC
Fully-Specified Name
- Component
- Gene XXX mutation analysis limited to known familial mutations
- Property
- Find
- Time
- Pt
- System
- Bld/Tiss
- Scale
- Doc
- Method
- Molgen
Additional Names
- Short Name
- Gene XXX Fam Mut Anl Bld/T
- Display Name
- Unsp gene familial mut analysis Molgen Doc (Bld/Tiss)
- Consumer Name Alpha Get Info
- Unsp gene familial variant analysis, Blood or tissue specimen
Basic Attributes
- Class
- MOLPATH
- Type
- Laboratory
- First Released
- Version 2.69
- Last Updated
- Version 2.69
- Order vs. Observation
- Both
Language Variants Get Info
Tag | Language | Translation |
---|---|---|
es-ES | Spanish (Spain) | Gen XXX Análisis de mutaciones limitado al conocimiento de las mutaciones familiares: |
es-MX | Spanish (Mexico) | Análisis de mutaciones del gen XXX limitado a mutaciones familiares conocidas: |
fr-FR | French (France) | Gène XXX gène mutation recherche limitée aux mutations familiales connues: |
it-IT | Italian (Italy) | Gene XXX , analisi di mutazione limitata a mutazioni familiari note: Synonyms: Genetica molecolare Osservazione Patologia molecolare Punto nel tempo (episodio) Sangue Sangue o Tessuto Tessuto & |
nl-NL | Dutch (Netherlands) | gen XXX mutatieanalyse gelimiteerd tot bekende familiaire mutaties: Synonyms: molgen |
ru-RU | Russian (Russian Federation) | Ген XXX исследование на мутацию, ограниченный известными семейными мутациями: Synonyms: Документ Кровь Кровь или Ткань Ткань и мазки Точка во времени; |
tr-TR | Turkish (Turkey) | Gen XXX mutasyon analizi, bilinen ailesel mutasyonlarla sınırlandırılmış: |
zh-CN | Chinese (China) | 基因 XXX 局限于已知家族性突变的突变分析: Synonyms: XXX 基因; |
LOINC Terminology Service (API) using HL7® FHIR® Get Info
Requests to this service require a free LOINC username and password. Below is a sample of the possible capabilities. See the LOINC Terminology Service documentation for more information.
- CodeSystem lookup
- https:
//fhir.loinc.org/CodeSystem/$lookup?system=http: //loinc.org&code=95786-0
LOINC Copyright
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