94235-9

F7 gene full mutation analysis in Blood or Tissue by Sequencing

Active

Term Description

Full gene sequence analysis of the F7 gene to identify a pathogenic mutation associated with Factor VII deficiency (F7D), a rare bleeding disorder.[GHR gene: F7]
Source: Regenstrief LOINC

Part Descriptions

LP150045-5   Sequencing
Sequencing is a method used to determine the sequence of individual genes, larger genetic regions (i.e. clusters of genes or operons), full chromosomes or entire genomes. Historically, most sequencing has been performed using the chain termination method developed by Frederick Sanger in 1977. PMID: 271968 Sequencing technologies have improved dramatically, making them cheaper, faster, and more accurate. Next-generation sequencing (NGS), also known as high-throughput sequencing, deep sequencing, and second-generation sequencing, is a type of technology that uses parallel sequencing of multiple small fragments of DNA to determine sequence. This "high-throughput" technology has increased the speed and amount of DNA sequenced at a significantly reduced cost. PMID: 18576944 Several NGS platforms (ie, sequencing instruments and associated reagents) have been developed. Third-generation sequencing is another methodology currently under development that uses parallel sequencing similar to NGS. In contrast to NGS, third-generation sequencing uses single DNA molecules rather than amplified DNA as a template. PMID: 20858600 Source: Regenstrief LOINC

LP19700-1   F7 gene
The F7 gene (coagulation factor VII (serum prothrombin conversion accelerator)) [HGNC Gene ID:3544] is located on chromosome 13q34. This gene encodes coagulation factor VII which is a vitamin K-dependent factor essential for hemostasis. This factor circulates in the blood in a zymogen form, and is converted to an active form by either factor IXa, factor Xa, factor XIIa, or thrombin by minor proteolysis. Upon activation of the factor VII, a heavy chain containing a catalytic domain and a light chain containing 2 EGF-like domains are generated, and two chains are held together by a disulfide bond. In the presence of factor III and calcium ions, the activated factor then further activates the coagulation cascade by converting factor IX to factor IXa and/or factor X to factor Xa. Defects in this gene can cause coagulopathy. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, May 2012] [NCBI Gene ID:2155] Source: National Center for Biotechnology Information (NCBI) Gene

Fully-Specified Name

Component

F7 gene full mutation analysis

Property

Find

Time

Pt

System

Bld/Tiss

Scale

Doc

Method

Sequencing

Additional Names

Short Name

F7 gene Full Mut Anl Bld/T Seq

Display Name

F7 gene full mutation analysis Sequencing Doc (Bld/Tiss)

Consumer Name Alpha Get Info

F7 gene variant analysis, Blood or tissue specimen

Basic Attributes

Class

MOLPATH

Type

Laboratory

First Released

Version 2.68

Last Updated

Version 2.68

Order vs. Observation

Both

Language Variants Get Info

Related Names

• Blood
• CF gene
• coagulation factor VII (serum prothrombin conversion accelerator)
• Coagulation factor VII gene
• Document
• Factor 7
• Factor VII
• Finding
• Findings
• full gene sequencing
• Full Mut Anl
• Genetics
• Heredity
• Heritable
• high-throughput sequencing
• HTS
• Inherited
• Molecular pathology
• MOLPATH
• Mut
• Mutations
• Next generation sequencing
• NGS
• Point in time
• Random
• sequencing of entire coding region
• Serum prothrombin conversion accelerator
• SPCA
• Tissue
• Tissue, unspecified
• WB
• Whole blood
• Whole blood or Tissue

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