24476-4

F2 gene mutations found [Identifier] in Blood or Tissue by Molecular genetics method Nominal

Active

Part Descriptions

LP14459-9   F2 gene
Factor II DNA analysis: a point mutation (G20210A) in the Factor II (prothrombin) gene is the second most common cause of inherited thrombosis. The mutation substitutes a guanine with an adenine at nucleotide 20210. Up to 20% of inherited thrombophilia is due to this mutation. Incidence is 1-2% among Caucasians and 0.1% in African Americans. Heterozygous carriers of this mutation have prothrombin levels 30% higher than normal and have an associated 3-fold increased risk for venous thrombosis. The prothrombin is cleaved to thrombin which acts like a serine protease in the coagulation cascade. This results in the production of fibrin and promotes clotting activity. Mutation has also been reported in patients with idiopathic portal vein thrombosis, patients using oral contraceptives, and pregnant patients with placental abruptions and fetal growth restrictions. Up to 40% of patients with Factor II mutation also carry the Factor V Leiden mutation. Source: Regenstrief Institute

LP14459-9   F2 gene
The F2 gene (coagulation factor II (thrombin)) [HGNC Gene ID:3535] is located on chromosome 11p11. Coagulation factor II is proteolytically cleaved to form thrombin in the first step of the coagulation cascade which ultimately results in the stemming of blood loss. F2 also plays a role in maintaining vascular integrity during development and postnatal life. Finally, peptides derived from the C-terminus of this protein have antimicrobial activity against E. coli and P. aeruginosa. Mutations in F2 leads to various forms of thrombosis and dysprothrombinemia. [provided by RefSeq, Nov 2014] [NCBI Gene ID:2147] Source: National Center for Biotechnology Information (NCBI) Gene

Fully-Specified Name

Component

F2 gene targeted mutation analysis

Property

Prid

Time

Pt

System

Bld/Tiss

Scale

Nom

Method

Molgen

Additional Names

Short Name

F2 gene Mut Anl Bld/T

Display Name

F2 gene targeted mutation analysis Molgen Nom (Bld/Tiss)

Consumer Name Alpha Get Info

F2 gene targeted mutation analysis, Blood or tissue specimen

Basic Attributes

Class

MOLPATH.MUT

Type

Laboratory

First Released

Version 1.0o

Last Updated

Version 2.73

Change Reason

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

2954

Language Variants Get Info

Related Names

• Blood
• Coagulation Factor 2 gene
• coagulation factor II (thrombin)
• Coagulation Factor II gene
• Genetics
• Heredity
• Heritable
• Identity or presence
• Inherited
• Molecular genetics
• Molecular pathology
• MOLPATH
• MOLPATH.MUTATIONS
• Mut
• Mut Anl
• Mutations
• Nominal
• PCR
• Point in time
• Prothrombin gene
• Prothrombin precursor
• PT
• Random
• RPRGL2
• THPH1
• Tissue
• Tissue, unspecified
• UniversalLabOrders
• WB
• Whole blood
• Whole blood or Tissue

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CodeSystem lookup

https://fhir.loinc.org/CodeSystem/$lookup?system=http://loinc.org&code=24476-4

LOINC Copyright

Copyright © 2024 Regenstrief Institute, Inc. All Rights Reserved. To the extent included herein, the LOINC table and LOINC codes are copyright © 1995-2024, Regenstrief Institute, Inc. and the Logical Observation Identifiers Names and Codes (LOINC) Committee. See https://loinc.org/license for the full LOINC copyright and license.