Snapshot 3: Connectathon 32 Base

This page is part of the FHIR Specification (v5.0.0-snapshot3: R5 Snapshot #3, to support Connectathon 32). The current version which supercedes this version is 5.0.0. For a full list of available versions, see the Directory of published versions

4.4.1.690 ValueSet http://hl7.org/fhir/ValueSet/genomicstudy-methodtype

Clinical Genomics icon Work Group Maturity Level: 1Trial Use Use Context: Country: World, Not yet ready for Production use, Not yet ready for Production use
Official URL: http://hl7.org/fhir/ValueSet/genomicstudy-methodtype Version: 5.0.0-snapshot3
draft as of 2022-08-17 Computable Name: GenomicStudyMethodType
Flags: Experimental OID: 2.16.840.1.113883.4.642.3.3085

This value set is used in the following places:

4.4.1.690.1 Definition

The method type of the GenomicStudy analysis.

4.4.1.690.2 Content Logical Definition

 

4.4.1.690.3 Expansion

This expansion generated 14 Dec 2022

This value set contains 81 concepts

Expansion based on GenomicStudyMethodType v5.0.0-snapshot3 (CodeSystem)

CodeSystemDisplay
  biochemical-geneticshttp://hl7.org/fhir/genomicstudy-methodtypeBiochemical Genetics
  cytogeneticshttp://hl7.org/fhir/genomicstudy-methodtypeCytogenetics
  molecular-geneticshttp://hl7.org/fhir/genomicstudy-methodtypeMolecular Genetics
  analytehttp://hl7.org/fhir/genomicstudy-methodtypeAnalyte
  chromosome-breakage-studieshttp://hl7.org/fhir/genomicstudy-methodtypeChromosome breakage studies
  deletion-duplication-analysishttp://hl7.org/fhir/genomicstudy-methodtypeDeletion/duplication analysis
  detection-of-homozygosityhttp://hl7.org/fhir/genomicstudy-methodtypeDetection of homozygosity
  enzyme-assayhttp://hl7.org/fhir/genomicstudy-methodtypeEnzyme assay
  fish-interphasehttp://hl7.org/fhir/genomicstudy-methodtypeFISH-interphase
  fish-metaphasehttp://hl7.org/fhir/genomicstudy-methodtypeFISH-metaphase
  flow-cytometryhttp://hl7.org/fhir/genomicstudy-methodtypeFlow cytometry
  fishhttp://hl7.org/fhir/genomicstudy-methodtypeFluorescence in situ hybridization (FISH)
  immunohistochemistryhttp://hl7.org/fhir/genomicstudy-methodtypeImmunohistochemistry
  karyotypinghttp://hl7.org/fhir/genomicstudy-methodtypeKaryotyping
  linkage-analysishttp://hl7.org/fhir/genomicstudy-methodtypeLinkage analysis
  methylation-analysishttp://hl7.org/fhir/genomicstudy-methodtypeMethylation analysis
  msihttp://hl7.org/fhir/genomicstudy-methodtypeMicrosatellite instability testing (MSI)
  m-fishhttp://hl7.org/fhir/genomicstudy-methodtypeMulticolor FISH (M-FISH)
  mutation-scanning-of-select-exonshttp://hl7.org/fhir/genomicstudy-methodtypeMutation scanning of select exons
  mutation-scanning-of-the-entire-coding-regionhttp://hl7.org/fhir/genomicstudy-methodtypeMutation scanning of the entire coding region
  protein-analysishttp://hl7.org/fhir/genomicstudy-methodtypeProtein analysis
  protein-expressionhttp://hl7.org/fhir/genomicstudy-methodtypeProtein expression
  rna-analysishttp://hl7.org/fhir/genomicstudy-methodtypeRNA analysis
  sequence-analysis-of-select-exonshttp://hl7.org/fhir/genomicstudy-methodtypeSequence analysis of select exons
  sequence-analysis-of-the-entire-coding-regionhttp://hl7.org/fhir/genomicstudy-methodtypeSequence analysis of the entire coding region
  sister-chromatid-exchangehttp://hl7.org/fhir/genomicstudy-methodtypeSister chromatid exchange
  targeted-variant-analysishttp://hl7.org/fhir/genomicstudy-methodtypeTargeted variant analysis
  udphttp://hl7.org/fhir/genomicstudy-methodtypeUniparental disomy study (UPD)
  aspehttp://hl7.org/fhir/genomicstudy-methodtypeAllele-specific primer extension (ASPE)
  alternative-splicing-detectionhttp://hl7.org/fhir/genomicstudy-methodtypeAlternative splicing detection
  bi-directional-sanger-sequence-analysishttp://hl7.org/fhir/genomicstudy-methodtypeBi-directional Sanger Sequence Analysis
  c-bandinghttp://hl7.org/fhir/genomicstudy-methodtypeC-banding
  ciahttp://hl7.org/fhir/genomicstudy-methodtypeChemiluminescent Immunoassay (CIA)
  chromatin-immunoprecipitation-on-chiphttp://hl7.org/fhir/genomicstudy-methodtypeChromatin Immunoprecipitation on ChIP
  comparative-genomic-hybridizationhttp://hl7.org/fhir/genomicstudy-methodtypeComparative Genomic Hybridization
  damidhttp://hl7.org/fhir/genomicstudy-methodtypeDamID
  digital-virtual-karyotypinghttp://hl7.org/fhir/genomicstudy-methodtypeDigital / Virtual karyotyping
  digital-microfluidic-microsphereshttp://hl7.org/fhir/genomicstudy-methodtypeDigital microfluidic microspheres
  enzymatic-levelshttp://hl7.org/fhir/genomicstudy-methodtypeEnzymatic levels
  enzyme-activityhttp://hl7.org/fhir/genomicstudy-methodtypeEnzyme activity
  elisahttp://hl7.org/fhir/genomicstudy-methodtypeEnzyme-Linked Immunosorbent Assays (ELISA)
  fluorometryhttp://hl7.org/fhir/genomicstudy-methodtypeFluorometry
  fusion-genes-microarrayshttp://hl7.org/fhir/genomicstudy-methodtypeFusion genes microarrays
  g-bandinghttp://hl7.org/fhir/genomicstudy-methodtypeG-banding
  gc-mshttp://hl7.org/fhir/genomicstudy-methodtypeGas chromatography–mass spectrometry (GC-MS)
  gene-expression-profilinghttp://hl7.org/fhir/genomicstudy-methodtypeGene expression profiling
  gene-idhttp://hl7.org/fhir/genomicstudy-methodtypeGeneID
  gold-nanoparticle-probe-technologyhttp://hl7.org/fhir/genomicstudy-methodtypeGold nanoparticle probe technology
  hplchttp://hl7.org/fhir/genomicstudy-methodtypeHigh-performance liquid chromatography (HPLC)
  lc-mshttp://hl7.org/fhir/genomicstudy-methodtypeLiquid chromatography mass spectrometry (LC-MS)
  lc-ms-mshttp://hl7.org/fhir/genomicstudy-methodtypeLiquid chromatography-tandem mass spectrometry (LC-MS/MS)
  metabolite-levelshttp://hl7.org/fhir/genomicstudy-methodtypeMetabolite levels
  methylation-specific-pcrhttp://hl7.org/fhir/genomicstudy-methodtypeMethylation-specific PCR
  microarrayhttp://hl7.org/fhir/genomicstudy-methodtypeMicroarray
  mlpahttp://hl7.org/fhir/genomicstudy-methodtypeMultiplex Ligation-dependent Probe Amplification (MLPA)
  ngs-mpshttp://hl7.org/fhir/genomicstudy-methodtypeNext-Generation (NGS)/Massively parallel sequencing (MPS)
  olahttp://hl7.org/fhir/genomicstudy-methodtypeOligonucleotide Ligation Assay (OLA)
  oligonucleotide-hybridization-based-dna-sequencinghttp://hl7.org/fhir/genomicstudy-methodtypeOligonucleotide hybridization-based DNA sequencing
  otherhttp://hl7.org/fhir/genomicstudy-methodtypeOther
  pcrhttp://hl7.org/fhir/genomicstudy-methodtypePCR
  pcr-with-allele-specific-hybridizationhttp://hl7.org/fhir/genomicstudy-methodtypePCR with allele specific hybridization
  pcr-rflp-with-southern-hybridizationhttp://hl7.org/fhir/genomicstudy-methodtypePCR-RFLP with Southern hybridization
  protein-truncation-testhttp://hl7.org/fhir/genomicstudy-methodtypeProtein truncation test
  pyrosequencinghttp://hl7.org/fhir/genomicstudy-methodtypePyrosequencing
  q-bandinghttp://hl7.org/fhir/genomicstudy-methodtypeQ-banding
  qpcrhttp://hl7.org/fhir/genomicstudy-methodtypeQuantitative PCR (qPCR)
  r-bandinghttp://hl7.org/fhir/genomicstudy-methodtypeR-banding
  rflphttp://hl7.org/fhir/genomicstudy-methodtypeRFLP
  rt-lamphttp://hl7.org/fhir/genomicstudy-methodtypeRT-LAMP
  rt-pcrhttp://hl7.org/fhir/genomicstudy-methodtypeRT-PCR
  rt-pcr-with-gel-analysishttp://hl7.org/fhir/genomicstudy-methodtypeRT-PCR with gel analysis
  rt-qpcrhttp://hl7.org/fhir/genomicstudy-methodtypeRT-qPCR
  snp-detectionhttp://hl7.org/fhir/genomicstudy-methodtypeSNP Detection
  silver-staininghttp://hl7.org/fhir/genomicstudy-methodtypeSilver staining
  skyhttp://hl7.org/fhir/genomicstudy-methodtypeSpectral karyotyping (SKY)
  t-bandinghttp://hl7.org/fhir/genomicstudy-methodtypeT-banding
  ms-mshttp://hl7.org/fhir/genomicstudy-methodtypeTandem mass spectrometry (MS/MS)
  tetra-nucleotide-repeat-by-pcr-or-southern-blothttp://hl7.org/fhir/genomicstudy-methodtypeTetra-nucleotide repeat by PCR or Southern Blot
  tiling-arrayshttp://hl7.org/fhir/genomicstudy-methodtypeTiling Arrays
  trinucleotide-repeat-by-pcr-or-southern-blothttp://hl7.org/fhir/genomicstudy-methodtypeTrinucleotide repeat by PCR or Southern Blot
  uni-directional-sanger-sequencinghttp://hl7.org/fhir/genomicstudy-methodtypeUni-directional Sanger sequencing

 

See the full registry of value sets defined as part of FHIR.

Explanation of the columns that may appear on this page:

LvlA few code lists that FHIR defines are hierarchical - each code is assigned a level. For value sets, levels are mostly used to organize codes for user convenience, but may follow code system hierarchy - see Code System for further information
SourceThe source of the definition of the code (when the value set draws in codes defined elsewhere)
CodeThe code (used as the code in the resource instance). If the code is in italics, this indicates that the code is not selectable ('Abstract')
DisplayThe display (used in the display element of a Coding). If there is no display, implementers should not simply display the code, but map the concept into their application
DefinitionAn explanation of the meaning of the concept
CommentsAdditional notes about how to use the code