Genomics Reporting Implementation Guide
4.0.0-ballot - STU 4 ballot International flag

Genomics Reporting Implementation Guide, published by HL7 International / Clinical Genomics. This guide is not an authorized publication; it is the continuous build for version 4.0.0-ballot built by the FHIR (HL7® FHIR® Standard) CI Build. This version is based on the current content of https://github.com/HL7/genomics-reporting/ and changes regularly. See the Directory of published versions

ValueSet: Genomic Study Method Type ValueSet

Official URL: http://hl7.org/fhir/uv/genomics-reporting/ValueSet/genomic-study-method-type-vs Version: 4.0.0-ballot
Standards status: Trial-use Maturity Level: 2 Computable Name: GenomicStudyMethodTypeVS

Backport of http://hl7.org/fhir/ValueSet/genomicstudy-methodtype

References

Logical Definition (CLD)

 

Expansion

Expansion performed internally based on codesystem Genomic Study Method Type CodeSystem v4.0.0-ballot (CodeSystem)

This value set contains 81 concepts

CodeSystemDisplay (en-US)Definition
  biochemical-geneticshttp://hl7.org/fhir/uv/genomics-reporting/CodeSystem/genomic-study-method-type-csBiochemical GeneticsBiochemical Genetics
  cytogeneticshttp://hl7.org/fhir/uv/genomics-reporting/CodeSystem/genomic-study-method-type-csCytogeneticsCytogenetics
  molecular-geneticshttp://hl7.org/fhir/uv/genomics-reporting/CodeSystem/genomic-study-method-type-csMolecular GeneticsMolecular Genetics
  analytehttp://hl7.org/fhir/uv/genomics-reporting/CodeSystem/genomic-study-method-type-csAnalyteAnalyte
  chromosome-breakage-studieshttp://hl7.org/fhir/uv/genomics-reporting/CodeSystem/genomic-study-method-type-csChromosome breakage studiesChromosome breakage studies
  deletion-duplication-analysishttp://hl7.org/fhir/uv/genomics-reporting/CodeSystem/genomic-study-method-type-csDeletion/duplication analysisDeletion/duplication analysis
  detection-of-homozygosityhttp://hl7.org/fhir/uv/genomics-reporting/CodeSystem/genomic-study-method-type-csDetection of homozygosityDetection of homozygosity
  enzyme-assayhttp://hl7.org/fhir/uv/genomics-reporting/CodeSystem/genomic-study-method-type-csEnzyme assayEnzyme assay
  fish-interphasehttp://hl7.org/fhir/uv/genomics-reporting/CodeSystem/genomic-study-method-type-csFISH-interphaseFISH-interphase
  fish-metaphasehttp://hl7.org/fhir/uv/genomics-reporting/CodeSystem/genomic-study-method-type-csFISH-metaphaseFISH-metaphase
  flow-cytometryhttp://hl7.org/fhir/uv/genomics-reporting/CodeSystem/genomic-study-method-type-csFlow cytometryFlow cytometry
  fishhttp://hl7.org/fhir/uv/genomics-reporting/CodeSystem/genomic-study-method-type-csFluorescence in situ hybridization (FISH)Fluorescence in situ hybridization (FISH)
  immunohistochemistryhttp://hl7.org/fhir/uv/genomics-reporting/CodeSystem/genomic-study-method-type-csImmunohistochemistryImmunohistochemistry
  karyotypinghttp://hl7.org/fhir/uv/genomics-reporting/CodeSystem/genomic-study-method-type-csKaryotypingKaryotyping
  linkage-analysishttp://hl7.org/fhir/uv/genomics-reporting/CodeSystem/genomic-study-method-type-csLinkage analysisLinkage analysis
  methylation-analysishttp://hl7.org/fhir/uv/genomics-reporting/CodeSystem/genomic-study-method-type-csMethylation analysisMethylation analysis
  msihttp://hl7.org/fhir/uv/genomics-reporting/CodeSystem/genomic-study-method-type-csMicrosatellite instability testing (MSI)Microsatellite instability testing (MSI)
  m-fishhttp://hl7.org/fhir/uv/genomics-reporting/CodeSystem/genomic-study-method-type-csMulticolor FISH (M-FISH)Multicolor FISH (M-FISH)
  mutation-scanning-of-select-exonshttp://hl7.org/fhir/uv/genomics-reporting/CodeSystem/genomic-study-method-type-csMutation scanning of select exonsMutation scanning of select exons
  mutation-scanning-of-the-entire-coding-regionhttp://hl7.org/fhir/uv/genomics-reporting/CodeSystem/genomic-study-method-type-csMutation scanning of the entire coding regionMutation scanning of the entire coding region
  protein-analysishttp://hl7.org/fhir/uv/genomics-reporting/CodeSystem/genomic-study-method-type-csProtein analysisProtein analysis
  protein-expressionhttp://hl7.org/fhir/uv/genomics-reporting/CodeSystem/genomic-study-method-type-csProtein expressionProtein expression
  rna-analysishttp://hl7.org/fhir/uv/genomics-reporting/CodeSystem/genomic-study-method-type-csRNA analysisRNA analysis
  sequence-analysis-of-select-exonshttp://hl7.org/fhir/uv/genomics-reporting/CodeSystem/genomic-study-method-type-csSequence analysis of select exonsSequence analysis of select exons
  sequence-analysis-of-the-entire-coding-regionhttp://hl7.org/fhir/uv/genomics-reporting/CodeSystem/genomic-study-method-type-csSequence analysis of the entire coding regionSequence analysis of the entire coding region
  sister-chromatid-exchangehttp://hl7.org/fhir/uv/genomics-reporting/CodeSystem/genomic-study-method-type-csSister chromatid exchangeSister chromatid exchange
  targeted-variant-analysishttp://hl7.org/fhir/uv/genomics-reporting/CodeSystem/genomic-study-method-type-csTargeted variant analysisTargeted variant analysis
  udphttp://hl7.org/fhir/uv/genomics-reporting/CodeSystem/genomic-study-method-type-csUniparental disomy study (UPD)Uniparental disomy study (UPD)
  aspehttp://hl7.org/fhir/uv/genomics-reporting/CodeSystem/genomic-study-method-type-csAllele-specific primer extension (ASPE)Allele-specific primer extension (ASPE)
  alternative-splicing-detectionhttp://hl7.org/fhir/uv/genomics-reporting/CodeSystem/genomic-study-method-type-csAlternative splicing detectionAlternative splicing detection
  bi-directional-sanger-sequence-analysishttp://hl7.org/fhir/uv/genomics-reporting/CodeSystem/genomic-study-method-type-csBi-directional Sanger Sequence AnalysisBi-directional Sanger Sequence Analysis
  c-bandinghttp://hl7.org/fhir/uv/genomics-reporting/CodeSystem/genomic-study-method-type-csC-bandingC-banding
  ciahttp://hl7.org/fhir/uv/genomics-reporting/CodeSystem/genomic-study-method-type-csChemiluminescent Immunoassay (CIA)Chemiluminescent Immunoassay (CIA)
  chromatin-immunoprecipitation-on-chiphttp://hl7.org/fhir/uv/genomics-reporting/CodeSystem/genomic-study-method-type-csChromatin Immunoprecipitation on ChIPChromatin Immunoprecipitation on ChIP
  comparative-genomic-hybridizationhttp://hl7.org/fhir/uv/genomics-reporting/CodeSystem/genomic-study-method-type-csComparative Genomic HybridizationComparative Genomic Hybridization
  damidhttp://hl7.org/fhir/uv/genomics-reporting/CodeSystem/genomic-study-method-type-csDamIDDamID
  digital-virtual-karyotypinghttp://hl7.org/fhir/uv/genomics-reporting/CodeSystem/genomic-study-method-type-csDigital / Virtual karyotypingDigital / Virtual karyotyping
  digital-microfluidic-microsphereshttp://hl7.org/fhir/uv/genomics-reporting/CodeSystem/genomic-study-method-type-csDigital microfluidic microspheresDigital microfluidic microspheres
  enzymatic-levelshttp://hl7.org/fhir/uv/genomics-reporting/CodeSystem/genomic-study-method-type-csEnzymatic levelsEnzymatic levels
  enzyme-activityhttp://hl7.org/fhir/uv/genomics-reporting/CodeSystem/genomic-study-method-type-csEnzyme activityEnzyme activity
  elisahttp://hl7.org/fhir/uv/genomics-reporting/CodeSystem/genomic-study-method-type-csEnzyme-Linked Immunosorbent Assays (ELISA)Enzyme-Linked Immunosorbent Assays (ELISA)
  fluorometryhttp://hl7.org/fhir/uv/genomics-reporting/CodeSystem/genomic-study-method-type-csFluorometryFluorometry
  fusion-genes-microarrayshttp://hl7.org/fhir/uv/genomics-reporting/CodeSystem/genomic-study-method-type-csFusion genes microarraysFusion genes microarrays
  g-bandinghttp://hl7.org/fhir/uv/genomics-reporting/CodeSystem/genomic-study-method-type-csG-bandingG-banding
  gc-mshttp://hl7.org/fhir/uv/genomics-reporting/CodeSystem/genomic-study-method-type-csGas chromatographymass spectrometry (GC-MS)Gas chromatographymass spectrometry (GC-MS)
  gene-expression-profilinghttp://hl7.org/fhir/uv/genomics-reporting/CodeSystem/genomic-study-method-type-csGene expression profilingGene expression profiling
  gene-idhttp://hl7.org/fhir/uv/genomics-reporting/CodeSystem/genomic-study-method-type-csGeneIDGeneID
  gold-nanoparticle-probe-technologyhttp://hl7.org/fhir/uv/genomics-reporting/CodeSystem/genomic-study-method-type-csGold nanoparticle probe technologyGold nanoparticle probe technology
  hplchttp://hl7.org/fhir/uv/genomics-reporting/CodeSystem/genomic-study-method-type-csHigh-performance liquid chromatography (HPLC)High-performance liquid chromatography (HPLC)
  lc-mshttp://hl7.org/fhir/uv/genomics-reporting/CodeSystem/genomic-study-method-type-csLiquid chromatography mass spectrometry (LC-MS)Liquid chromatography mass spectrometry (LC-MS)
  lc-ms-mshttp://hl7.org/fhir/uv/genomics-reporting/CodeSystem/genomic-study-method-type-csLiquid chromatography-tandem mass spectrometry (LC-MS/MS)Liquid chromatography-tandem mass spectrometry (LC-MS/MS)
  metabolite-levelshttp://hl7.org/fhir/uv/genomics-reporting/CodeSystem/genomic-study-method-type-csMetabolite levelsMetabolite levels
  methylation-specific-pcrhttp://hl7.org/fhir/uv/genomics-reporting/CodeSystem/genomic-study-method-type-csMethylation-specific PCRMethylation-specific PCR
  microarrayhttp://hl7.org/fhir/uv/genomics-reporting/CodeSystem/genomic-study-method-type-csMicroarrayMicroarray
  mlpahttp://hl7.org/fhir/uv/genomics-reporting/CodeSystem/genomic-study-method-type-csMultiplex Ligation-dependent Probe Amplification (MLPA)Multiplex Ligation-dependent Probe Amplification (MLPA)
  ngs-mpshttp://hl7.org/fhir/uv/genomics-reporting/CodeSystem/genomic-study-method-type-csNext-Generation (NGS)/Massively parallel sequencing (MPS)Next-Generation (NGS)/Massively parallel sequencing (MPS)
  olahttp://hl7.org/fhir/uv/genomics-reporting/CodeSystem/genomic-study-method-type-csOligonucleotide Ligation Assay (OLA)Oligonucleotide Ligation Assay (OLA)
  oligonucleotide-hybridization-based-dna-sequencinghttp://hl7.org/fhir/uv/genomics-reporting/CodeSystem/genomic-study-method-type-csOligonucleotide hybridization-based DNA sequencingOligonucleotide hybridization-based DNA sequencing
  otherhttp://hl7.org/fhir/uv/genomics-reporting/CodeSystem/genomic-study-method-type-csOtherOther
  pcrhttp://hl7.org/fhir/uv/genomics-reporting/CodeSystem/genomic-study-method-type-csPCRPCR
  pcr-with-allele-specific-hybridizationhttp://hl7.org/fhir/uv/genomics-reporting/CodeSystem/genomic-study-method-type-csPCR with allele specific hybridizationPCR with allele specific hybridization
  pcr-rflp-with-southern-hybridizationhttp://hl7.org/fhir/uv/genomics-reporting/CodeSystem/genomic-study-method-type-csPCR-RFLP with Southern hybridizationPCR-RFLP with Southern hybridization
  protein-truncation-testhttp://hl7.org/fhir/uv/genomics-reporting/CodeSystem/genomic-study-method-type-csProtein truncation testProtein truncation test
  pyrosequencinghttp://hl7.org/fhir/uv/genomics-reporting/CodeSystem/genomic-study-method-type-csPyrosequencingPyrosequencing
  q-bandinghttp://hl7.org/fhir/uv/genomics-reporting/CodeSystem/genomic-study-method-type-csQ-bandingQ-banding
  qpcrhttp://hl7.org/fhir/uv/genomics-reporting/CodeSystem/genomic-study-method-type-csQuantitative PCR (qPCR)Quantitative PCR (qPCR)
  r-bandinghttp://hl7.org/fhir/uv/genomics-reporting/CodeSystem/genomic-study-method-type-csR-bandingR-banding
  rflphttp://hl7.org/fhir/uv/genomics-reporting/CodeSystem/genomic-study-method-type-csRFLPRFLP
  rt-lamphttp://hl7.org/fhir/uv/genomics-reporting/CodeSystem/genomic-study-method-type-csRT-LAMPRT-LAMP
  rt-pcrhttp://hl7.org/fhir/uv/genomics-reporting/CodeSystem/genomic-study-method-type-csRT-PCRRT-PCR
  rt-pcr-with-gel-analysishttp://hl7.org/fhir/uv/genomics-reporting/CodeSystem/genomic-study-method-type-csRT-PCR with gel analysisRT-PCR with gel analysis
  rt-qpcrhttp://hl7.org/fhir/uv/genomics-reporting/CodeSystem/genomic-study-method-type-csRT-qPCRRT-qPCR
  snp-detectionhttp://hl7.org/fhir/uv/genomics-reporting/CodeSystem/genomic-study-method-type-csSNP DetectionSNP Detection
  silver-staininghttp://hl7.org/fhir/uv/genomics-reporting/CodeSystem/genomic-study-method-type-csSilver stainingSilver staining
  skyhttp://hl7.org/fhir/uv/genomics-reporting/CodeSystem/genomic-study-method-type-csSpectral karyotyping (SKY)Spectral karyotyping (SKY)
  t-bandinghttp://hl7.org/fhir/uv/genomics-reporting/CodeSystem/genomic-study-method-type-csT-bandingT-banding
  ms-mshttp://hl7.org/fhir/uv/genomics-reporting/CodeSystem/genomic-study-method-type-csTandem mass spectrometry (MS/MS)Tandem mass spectrometry (MS/MS)
  tetra-nucleotide-repeat-by-pcr-or-southern-blothttp://hl7.org/fhir/uv/genomics-reporting/CodeSystem/genomic-study-method-type-csTetra-nucleotide repeat by PCR or Southern BlotTetra-nucleotide repeat by PCR or Southern Blot
  tiling-arrayshttp://hl7.org/fhir/uv/genomics-reporting/CodeSystem/genomic-study-method-type-csTiling ArraysTiling Arrays
  trinucleotide-repeat-by-pcr-or-southern-blothttp://hl7.org/fhir/uv/genomics-reporting/CodeSystem/genomic-study-method-type-csTrinucleotide repeat by PCR or Southern BlotTrinucleotide repeat by PCR or Southern Blot
  uni-directional-sanger-sequencinghttp://hl7.org/fhir/uv/genomics-reporting/CodeSystem/genomic-study-method-type-csUni-directional Sanger sequencingUni-directional Sanger sequencing

Explanation of the columns that may appear on this page:

Level A few code lists that FHIR defines are hierarchical - each code is assigned a level. In this scheme, some codes are under other codes, and imply that the code they are under also applies
System The source of the definition of the code (when the value set draws in codes defined elsewhere)
Code The code (used as the code in the resource instance)
Display The 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
Definition An explanation of the meaning of the concept
Comments Additional notes about how to use the code