Genomics Reporting Implementation Guide
3.0.0-ballot - Ballot International flag

This page is part of the Genetic Reporting Implementation Guide (v3.0.0-ballot: STU 3 Ballot 1) based on FHIR (HL7® FHIR® Standard) R4. The current version which supersedes this version is 2.0.0. For a full list of available versions, see the Directory of published versions

ValueSet: Genomic Study Method Type ValueSet (Experimental)

Official URL: http://hl7.org/fhir/uv/genomics-reporting/ValueSet/genomic-study-method-type-vs Version: 3.0.0-ballot
Active as of 2023-12-18 Computable Name: GenomicStudyMethodTypeVS

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

References

Logical Definition (CLD)

 

Expansion

Expansion based on codesystem Genomic Study Method Type CodeSystem v3.0.0-ballot (CodeSystem)

This value set contains 81 concepts

CodeSystemDisplay
  biochemical-geneticshttp://hl7.org/fhir/uv/genomics-reporting/CodeSystem/genomic-study-method-type-csBiochemical Genetics
  cytogeneticshttp://hl7.org/fhir/uv/genomics-reporting/CodeSystem/genomic-study-method-type-csCytogenetics
  molecular-geneticshttp://hl7.org/fhir/uv/genomics-reporting/CodeSystem/genomic-study-method-type-csMolecular Genetics
  analytehttp://hl7.org/fhir/uv/genomics-reporting/CodeSystem/genomic-study-method-type-csAnalyte
  chromosome-breakage-studieshttp://hl7.org/fhir/uv/genomics-reporting/CodeSystem/genomic-study-method-type-csChromosome breakage studies
  deletion-duplication-analysishttp://hl7.org/fhir/uv/genomics-reporting/CodeSystem/genomic-study-method-type-csDeletion/duplication analysis
  detection-of-homozygosityhttp://hl7.org/fhir/uv/genomics-reporting/CodeSystem/genomic-study-method-type-csDetection of homozygosity
  enzyme-assayhttp://hl7.org/fhir/uv/genomics-reporting/CodeSystem/genomic-study-method-type-csEnzyme assay
  fish-interphasehttp://hl7.org/fhir/uv/genomics-reporting/CodeSystem/genomic-study-method-type-csFISH-interphase
  fish-metaphasehttp://hl7.org/fhir/uv/genomics-reporting/CodeSystem/genomic-study-method-type-csFISH-metaphase
  flow-cytometryhttp://hl7.org/fhir/uv/genomics-reporting/CodeSystem/genomic-study-method-type-csFlow cytometry
  fishhttp://hl7.org/fhir/uv/genomics-reporting/CodeSystem/genomic-study-method-type-csFluorescence in situ hybridization (FISH)
  immunohistochemistryhttp://hl7.org/fhir/uv/genomics-reporting/CodeSystem/genomic-study-method-type-csImmunohistochemistry
  karyotypinghttp://hl7.org/fhir/uv/genomics-reporting/CodeSystem/genomic-study-method-type-csKaryotyping
  linkage-analysishttp://hl7.org/fhir/uv/genomics-reporting/CodeSystem/genomic-study-method-type-csLinkage analysis
  methylation-analysishttp://hl7.org/fhir/uv/genomics-reporting/CodeSystem/genomic-study-method-type-csMethylation analysis
  msihttp://hl7.org/fhir/uv/genomics-reporting/CodeSystem/genomic-study-method-type-csMicrosatellite instability testing (MSI)
  m-fishhttp://hl7.org/fhir/uv/genomics-reporting/CodeSystem/genomic-study-method-type-csMulticolor FISH (M-FISH)
  mutation-scanning-of-select-exonshttp://hl7.org/fhir/uv/genomics-reporting/CodeSystem/genomic-study-method-type-csMutation 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 region
  protein-analysishttp://hl7.org/fhir/uv/genomics-reporting/CodeSystem/genomic-study-method-type-csProtein analysis
  protein-expressionhttp://hl7.org/fhir/uv/genomics-reporting/CodeSystem/genomic-study-method-type-csProtein expression
  rna-analysishttp://hl7.org/fhir/uv/genomics-reporting/CodeSystem/genomic-study-method-type-csRNA analysis
  sequence-analysis-of-select-exonshttp://hl7.org/fhir/uv/genomics-reporting/CodeSystem/genomic-study-method-type-csSequence 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 region
  sister-chromatid-exchangehttp://hl7.org/fhir/uv/genomics-reporting/CodeSystem/genomic-study-method-type-csSister chromatid exchange
  targeted-variant-analysishttp://hl7.org/fhir/uv/genomics-reporting/CodeSystem/genomic-study-method-type-csTargeted variant analysis
  udphttp://hl7.org/fhir/uv/genomics-reporting/CodeSystem/genomic-study-method-type-csUniparental disomy study (UPD)
  aspehttp://hl7.org/fhir/uv/genomics-reporting/CodeSystem/genomic-study-method-type-csAllele-specific primer extension (ASPE)
  alternative-splicing-detectionhttp://hl7.org/fhir/uv/genomics-reporting/CodeSystem/genomic-study-method-type-csAlternative splicing detection
  bi-directional-sanger-sequence-analysishttp://hl7.org/fhir/uv/genomics-reporting/CodeSystem/genomic-study-method-type-csBi-directional Sanger Sequence Analysis
  c-bandinghttp://hl7.org/fhir/uv/genomics-reporting/CodeSystem/genomic-study-method-type-csC-banding
  ciahttp://hl7.org/fhir/uv/genomics-reporting/CodeSystem/genomic-study-method-type-csChemiluminescent Immunoassay (CIA)
  chromatin-immunoprecipitation-on-chiphttp://hl7.org/fhir/uv/genomics-reporting/CodeSystem/genomic-study-method-type-csChromatin Immunoprecipitation on ChIP
  comparative-genomic-hybridizationhttp://hl7.org/fhir/uv/genomics-reporting/CodeSystem/genomic-study-method-type-csComparative Genomic Hybridization
  damidhttp://hl7.org/fhir/uv/genomics-reporting/CodeSystem/genomic-study-method-type-csDamID
  digital-virtual-karyotypinghttp://hl7.org/fhir/uv/genomics-reporting/CodeSystem/genomic-study-method-type-csDigital / Virtual karyotyping
  digital-microfluidic-microsphereshttp://hl7.org/fhir/uv/genomics-reporting/CodeSystem/genomic-study-method-type-csDigital microfluidic microspheres
  enzymatic-levelshttp://hl7.org/fhir/uv/genomics-reporting/CodeSystem/genomic-study-method-type-csEnzymatic levels
  enzyme-activityhttp://hl7.org/fhir/uv/genomics-reporting/CodeSystem/genomic-study-method-type-csEnzyme activity
  elisahttp://hl7.org/fhir/uv/genomics-reporting/CodeSystem/genomic-study-method-type-csEnzyme-Linked Immunosorbent Assays (ELISA)
  fluorometryhttp://hl7.org/fhir/uv/genomics-reporting/CodeSystem/genomic-study-method-type-csFluorometry
  fusion-genes-microarrayshttp://hl7.org/fhir/uv/genomics-reporting/CodeSystem/genomic-study-method-type-csFusion genes microarrays
  g-bandinghttp://hl7.org/fhir/uv/genomics-reporting/CodeSystem/genomic-study-method-type-csG-banding
  gc-mshttp://hl7.org/fhir/uv/genomics-reporting/CodeSystem/genomic-study-method-type-csGas chromatographymass spectrometry (GC-MS)
  gene-expression-profilinghttp://hl7.org/fhir/uv/genomics-reporting/CodeSystem/genomic-study-method-type-csGene expression profiling
  gene-idhttp://hl7.org/fhir/uv/genomics-reporting/CodeSystem/genomic-study-method-type-csGeneID
  gold-nanoparticle-probe-technologyhttp://hl7.org/fhir/uv/genomics-reporting/CodeSystem/genomic-study-method-type-csGold nanoparticle probe technology
  hplchttp://hl7.org/fhir/uv/genomics-reporting/CodeSystem/genomic-study-method-type-csHigh-performance liquid chromatography (HPLC)
  lc-mshttp://hl7.org/fhir/uv/genomics-reporting/CodeSystem/genomic-study-method-type-csLiquid 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)
  metabolite-levelshttp://hl7.org/fhir/uv/genomics-reporting/CodeSystem/genomic-study-method-type-csMetabolite levels
  methylation-specific-pcrhttp://hl7.org/fhir/uv/genomics-reporting/CodeSystem/genomic-study-method-type-csMethylation-specific PCR
  microarrayhttp://hl7.org/fhir/uv/genomics-reporting/CodeSystem/genomic-study-method-type-csMicroarray
  mlpahttp://hl7.org/fhir/uv/genomics-reporting/CodeSystem/genomic-study-method-type-csMultiplex 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)
  olahttp://hl7.org/fhir/uv/genomics-reporting/CodeSystem/genomic-study-method-type-csOligonucleotide Ligation Assay (OLA)
  oligonucleotide-hybridization-based-dna-sequencinghttp://hl7.org/fhir/uv/genomics-reporting/CodeSystem/genomic-study-method-type-csOligonucleotide hybridization-based DNA sequencing
  otherhttp://hl7.org/fhir/uv/genomics-reporting/CodeSystem/genomic-study-method-type-csOther
  pcrhttp://hl7.org/fhir/uv/genomics-reporting/CodeSystem/genomic-study-method-type-csPCR
  pcr-with-allele-specific-hybridizationhttp://hl7.org/fhir/uv/genomics-reporting/CodeSystem/genomic-study-method-type-csPCR with allele specific hybridization
  pcr-rflp-with-southern-hybridizationhttp://hl7.org/fhir/uv/genomics-reporting/CodeSystem/genomic-study-method-type-csPCR-RFLP with Southern hybridization
  protein-truncation-testhttp://hl7.org/fhir/uv/genomics-reporting/CodeSystem/genomic-study-method-type-csProtein truncation test
  pyrosequencinghttp://hl7.org/fhir/uv/genomics-reporting/CodeSystem/genomic-study-method-type-csPyrosequencing
  q-bandinghttp://hl7.org/fhir/uv/genomics-reporting/CodeSystem/genomic-study-method-type-csQ-banding
  qpcrhttp://hl7.org/fhir/uv/genomics-reporting/CodeSystem/genomic-study-method-type-csQuantitative PCR (qPCR)
  r-bandinghttp://hl7.org/fhir/uv/genomics-reporting/CodeSystem/genomic-study-method-type-csR-banding
  rflphttp://hl7.org/fhir/uv/genomics-reporting/CodeSystem/genomic-study-method-type-csRFLP
  rt-lamphttp://hl7.org/fhir/uv/genomics-reporting/CodeSystem/genomic-study-method-type-csRT-LAMP
  rt-pcrhttp://hl7.org/fhir/uv/genomics-reporting/CodeSystem/genomic-study-method-type-csRT-PCR
  rt-pcr-with-gel-analysishttp://hl7.org/fhir/uv/genomics-reporting/CodeSystem/genomic-study-method-type-csRT-PCR with gel analysis
  rt-qpcrhttp://hl7.org/fhir/uv/genomics-reporting/CodeSystem/genomic-study-method-type-csRT-qPCR
  snp-detectionhttp://hl7.org/fhir/uv/genomics-reporting/CodeSystem/genomic-study-method-type-csSNP Detection
  silver-staininghttp://hl7.org/fhir/uv/genomics-reporting/CodeSystem/genomic-study-method-type-csSilver staining
  skyhttp://hl7.org/fhir/uv/genomics-reporting/CodeSystem/genomic-study-method-type-csSpectral karyotyping (SKY)
  t-bandinghttp://hl7.org/fhir/uv/genomics-reporting/CodeSystem/genomic-study-method-type-csT-banding
  ms-mshttp://hl7.org/fhir/uv/genomics-reporting/CodeSystem/genomic-study-method-type-csTandem 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 Blot
  tiling-arrayshttp://hl7.org/fhir/uv/genomics-reporting/CodeSystem/genomic-study-method-type-csTiling 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 Blot
  uni-directional-sanger-sequencinghttp://hl7.org/fhir/uv/genomics-reporting/CodeSystem/genomic-study-method-type-csUni-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