91681-7
F9 gene mutation analysis limited to known familial mutations in Amniotic fluid or Chorionic villus sample by Molecular genetics method
Active
Part Description
LP34969-3 F9 gene
The F9 gene (coagulation factor IX) [HGNC Gene ID:3551] is located on chromosome Xq27.1-q27.2. This gene encodes vitamin K-dependent coagulation factor IX that circulates in the blood as an inactive zymogen. This factor is converted to an active form by factor XIa, which excises the activation peptide and thus generates a heavy chain and a light chain held together by one or more disulfide bonds. The role of this activated factor IX in the blood coagulation cascade is to activate factor X to its active form through interactions with Ca+2 ions, membrane phospholipids, and factor VIII. Alterations of this gene, including point mutations, insertions and deletions, cause factor IX deficiency, which is a recessive X-linked disorder, also called hemophilia B or Christmas disease. [provided by RefSeq, Jul 2008] [NCBI Gene ID:2158]
Source: National Center for Biotechnology Information (NCBI) Gene
Fully-Specified Name
- Component
- F9 gene mutation analysis limited to known familial mutations
- Property
- Find
- Time
- Pt
- System
- Amnio fld/CVS
- Scale
- Doc
- Method
- Molgen
Additional Names
- Short Name
- F9 gene Fam Mut Anl Amn/CVS
- Display Name
- F9 gene familial mut analysis Molgen Doc (Amnio fld/CVS)
- Consumer Name Alpha Get Info
- F9 gene familial variant analysis, Amnio Fld/CVS
Basic Attributes
- Class
- MOLPATH.MUT
- Type
- Laboratory
- First Released
- Version 2.66
- Last Updated
- Version 2.66
- Order vs. Observation
- Both
Language Variants Get Info
Tag | Language | Translation |
---|---|---|
es-ES | Spanish (Spain) | Gen F9 Análisis de mutaciones limitado al conocimiento de las mutaciones familiares: |
es-MX | Spanish (Mexico) | Análisis de mutación del gen F9 limitado a mutaciones familiares conocidas: |
fr-FR | French (France) | F9 gène mutation recherche limitée aux mutations familiales connues: |
it-IT | Italian (Italy) | F9, gene , analisi di mutazione limitata a mutazioni familiari note: Synonyms: Campione di villi coriali Gene F9 Genetica molecolare Liquido amniotico Mutazione genica Osservazione Patologia molecolare Prelievo del liquido amniotico o dei villi coriali Punto nel tempo (episodio) |
tr-TR | Turkish (Turkey) | F9 geni mutasyon analizi, bilinen ailesel mutasyonlarla sınırlandırılmış: Synonyms: Amniyon mayii |
zh-CN | Chinese (China) | F9 基因 局限于已知家族性突变的突变分析: Synonyms: Christmas 因子; |
LOINC Terminology Service (API) using HL7® FHIR® Get Info
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- CodeSystem lookup
- https:
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