94469-4
F2 gene.c.20210G>A and c.1691G>A panel - Blood or Tissue by Molecular genetics method
Active
24475-6 F2 gene c.20210G>A [Genotype] in Blood or Tissue by Molecular genetics method Nominal
Term Description
Factor II (Prothrombin) 20210G>A assays allow for the detection and genotyping of a single point mutation (G to A at position 20210) of the Factor II (F2) gene from DNA isolated typically from whole blood.
Source: Regenstrief LOINC
Part Descriptions
LP14458-1 F2 gene.c.20210G>A
The factor II prothrombin 20210A mutation is a common genetic risk factor for thrombosis; it is associated with increased prothrombin levels. Increased prothrombin levels lead to increased thrombin generation and thus more fibrin clots. It is an autosomal dominant disorder, with heterozygotes having a 3-11 fold increased risk for thrombosis. Information from ARUP Laboratories 2007 01 08
Source: Regenstrief Institute
Fully-Specified Name
- Component
- F2 gene.c.20210G>A
- Property
- Geno
- Time
- Pt
- System
- Bld/Tiss
- Scale
- Nom
- Method
- Molgen
Additional Names
- Short Name
- F2 c.20210G>A Geno Bld/T
- Display Name
- F2 gene c.20210G>A genotype Molgen (Bld/Tiss)
- Consumer Name Alpha Get Info
- F2 gene c.20210G>A genotype, Blood or tissue specimen
Basic Attributes
- Class
- MOLPATH.MUT
- Type
- Laboratory
- First Released
- Version 1.0o
- Last Updated
- Version 2.73
- Change Reason
- Release 2.67: SCALE_TYP: Updated Scale from Ord to Nom based on the current LOINC naming model for concepts used to report the patient's genotype for a specific variant; PROPERTY: Updated Property from PrThr to Geno based on the current LOINC naming model for concepts used to report the patient's genotype for a specific variant; Previous Releases: Changed 'p' to 'c' in Component since this variant is described at the coding level (vs. protein level). Edited to term to harmonize with current recommended HGVS nomenclature.; Converted the answers in the description to an answer list.; The PrThr property is used for LOINC terms whose results are reported using an ordered categorical scale, regardless of whether or not an internal threshold was used to make that determination. This change was approved by the Laboratory LOINC Committee in June 2016. Updated Answer list to reflect that this term should be used to report the presence or absence of a single point mutation. This change was approved by the Laboratory LOINC Committee in December 2018.
- Order vs. Observation
- Both
- Common Test Rank Get Info
- 2177
Example Answer List LL2478-7
| Answer | Code | Score | Answer ID |
|---|---|---|---|
| G/G (wild type) | LA19932-5 | ||
| G/A (heterozygous) | LA19933-3 | ||
| A/A (homozygous) | LA19934-1 |
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 94469-4 | F2 gene.c.20210G>A and c.1691G>A panel - Blood or Tissue by Molecular genetics method |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| de-AT | German (Austria) | Synonyms: Prothr.-Mut.20210G>A |
| de-DE | German (Germany) | F2-Gen.c.20210G>A: |
| es-AR | Spanish (Argentina) | gen F2.P.G20210A: |
| es-MX | Spanish (Mexico) | F2 gene.c.20210G> A: |
| es-ES | Spanish (Spain) | Gen F2 polimorfismo G21210A: |
| fr-FR | French (France) | F2 gène mutation c.20210G>A: |
| it-IT | Italian (Italy) | F2, gene.p.G20210A: Synonyms: Gene F2 Gene F2 p.G20210A Genetica molecolare Genotipo Mutazione genica Patologia molecolare Punto nel tempo (episodio) Sangue Sangue o Tessuto Tessuto & |
| ko-KR | Korean (Korea, Republic Of) | F2 유전자.p.G20210A: |
| nl-NL | Dutch (Netherlands) | F2-gen.c.20210G>A: Synonyms: f2 gen f2 gen.c.20210G> |
| pt-BR | Portuguese (Brazil) | F2 gene.p.G20210A: Synonyms: ; |
| zh-CN | Chinese (China) | F2 基因.c.20210G>A: Synonyms: A 型 C 型; |
91712-0 F5 gene c.1691G>A [Genotype] in Blood or Tissue by Molecular genetics method Nominal
Part Descriptions
LP309968-8 F5 gene.c.1691G>A
A guanine to adenine change at nucleotide 1691 in the Factor V gene (F5 c.1691G>A) is responsible for Factor V Leiden (FVL), a disorder associated with an increased risk of thrombosis. Normally, Factor V is a procoagulant and converts prothrombin to thrombin, and activated protein C (APC) regulates coagulation by inhibiting Factor V. The F5 c.1691G>A mutation eliminates the Factor V cleavage site where APC normally acts. Patients who are heterozygous for one copy of F5 c.1691G>A have a 7-fold increased lifetime risk of thrombosis, while those who have two copies of the mutation have 20- to 80- times the lifetime risk compared to those that have two normal copies. [NCBI Books: NBK534802]
Source: Regenstrief LOINC
Fully-Specified Name
- Component
- F5 gene.c.1691G>A
- Property
- Geno
- Time
- Pt
- System
- Bld/Tiss
- Scale
- Nom
- Method
- Molgen
Additional Names
- Short Name
- F5 c.1691G>A Geno Bld/T
- Display Name
- F5 gene c.1691G>A genotype Molgen (Bld/Tiss)
- Consumer Name Alpha Get Info
- F5 gene c.1691G>A variant analysis genotype, Blood or tissue specimen
Basic Attributes
- Class
- MOLPATH.MUT
- Type
- Laboratory
- First Released
- Version 2.66
- Last Updated
- Version 2.68
- Order vs. Observation
- Both
Example Answer List LL4021-3
| Answer | Code | Score | Answer ID |
|---|---|---|---|
| G/G (wild type) | LA19932-5 | ||
| G/A (heterozygous) | LA19933-3 | ||
| A/A (homozygous) | LA19934-1 |
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 94469-4 | F2 gene.c.20210G>A and c.1691G>A panel - Blood or Tissue by Molecular genetics method |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| de-DE | German (Germany) | F5-Gen.c.1691G>A: |
| es-MX | Spanish (Mexico) | Gen F5 c.1691G> A: |
| es-ES | Spanish (Spain) | Gen F5 c.1691G> A: |
| fr-FR | French (France) | F5 gène.c.1691G>A: |
| it-IT | Italian (Italy) | F5, gene.c.1691G>A: Synonyms: Gene F5 Gene F5 c.1691G> |
| nl-NL | Dutch (Netherlands) | F5-gen c.1691G>A: Synonyms: f5 gen molgen |
| zh-CN | Chinese (China) | F5 基因.c.1691G>A: Synonyms: A 型 APC; |