92899-4  Fetal Chromosome region 11q23 deletion [Presence] based on Plasma cell-free DNA by SequencingFetal Chromosome region 11q23 deletion [Presence] based on Plasma cell-free DNA by SequencingFetal chromosome region 11q23 deletion: PrThr: Pt: Plas.cfDNA: Ord: Sequencing  

  Fully Specified Name: 
Component   Property   Time   System   Scale   Method
Fetal chromosome region 11q23 deletion  PrThr  Pt  Plas.cfDNA  Ord  Sequencing
  Long Common Name:  Fetal Chromosome region 11q23 deletion [Presence] based on Plasma cell-free DNA by Sequencing
  Short Name:  Fet Chr 11q23 Del Plas.cfDNA Ql
  Display Name:  Chromosome region 11q23 del Sequencing Ql (cfDNA)

  Part: Fetal chromosome region 11q23 deletion
  The CBL (Cbl proto-oncogene) gene [HGNC Gene ID:1541] is located on chromosome 11 at 11q23.3 This gene is a proto-oncogene that encodes a RING finger E3 ubiquitin ligase. The encoded protein is one of the enzymes required for targeting substrates for degradation by the proteasome. This protein mediates the transfer of ubiquitin from ubiquitin conjugating enzymes (E2) to specific substrates. This protein also contains an N-terminal phosphotyrosine binding domain that allows it to interact with numerous tyrosine-phosphorylated substrates and target them for proteasome degradation. As such it functions as a negative regulator of many signal transduction pathways. This gene has been found to be mutated or translocated in many cancers including acute myeloid leukemia, and expansion of CGG repeats in the 5 ' UTR has been associated with Jacobsen syndrome. Mutations in this gene are also the cause of Noonan syndrome-like disorder. [provided by RefSeq, Jul 2016] [NCBI Gene ID: 867]
  Part: 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]

  Class/Type: MOLPATH.DELDUP/Lab
  First Released in Version: 2.66
  Last Updated in Version: 2.66
  Order vs. Obs.: Both
  Status: Active.
Change Reason: Added "Fetal" to Component to clarify that the result is about the fetus.

Source: Regenstrief Institute
  SEQ#        Answer        Answer ID    
  1       Positive
http://snomed.info/sct ©: 10828004 Positive (qualifier value)    
  2       Negative
http://snomed.info/sct ©: 260385009 Negative (qualifier value)    


Part Type    Part No.  Part Name   
Component   LP343962-9  Fetal chromosome region 11q23 deletion 
Component   LP345007-1  Fetal chromosome region 11q23 
     Suffix   LP29253-9  deletion 
Property   LP217195-9  PrThr   [Presence or Threshold] 
Time   LP6960-1  Pt   [Point in time (spot)] 
System   LP185795-4  Plas.cfDNA   [Plasma cell-free DNA] 
Scale   LP7751-3  Ord 
Method   LP150045-5  Sequencing 
Fragments for synonyms   LP20948-3  Chromosome 

  Chr 11q23 MOLPATH QL
  Chr 11q23 del MOLPATH.DELDUP Qual
  Chromosom Ordinal Qualitative
  Chromosomes Pl Random
  Cyto loc Plasma Screen
  Del Plsm  
  Deletions Point in time  
  Molecular pathology PR  

  Change Type: ADD

  Detail Page Created On: 6/20/2019 8:58:28 AM
  Long Common Name: Fetal Chromosome region 11q23 deletion [Presence] based on Plasma cell-free DNA by Sequencing
  Shortname: Fet Chr 11q23 Del Plas.cfDNA Ql
  Fully Specified Name: Fetal chromosome region 11q23 deletion: PrThr: Pt: Plas.cfDNA: Ord: Sequencing
  Component Word Count: 5
  ID: 100479
  Status (Raw): ACTIVE

  Code System: http://snomed.info/sct
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