Genomics Reporting Implementation Guide
4.0.0-cibuild - CI Build 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-cibuild 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-cibuild
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-cibuild (CodeSystem)

This value set contains 81 concepts

SystemCodeDisplay (en)DefinitionJSONXML
http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/genomic-study-method-type-cs  biochemical-geneticsBiochemical GeneticsBiochemical Genetics
http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/genomic-study-method-type-cs  cytogeneticsCytogeneticsCytogenetics
http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/genomic-study-method-type-cs  molecular-geneticsMolecular GeneticsMolecular Genetics
http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/genomic-study-method-type-cs  analyteAnalyteAnalyte
http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/genomic-study-method-type-cs  chromosome-breakage-studiesChromosome breakage studiesChromosome breakage studies
http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/genomic-study-method-type-cs  deletion-duplication-analysisDeletion/duplication analysisDeletion/duplication analysis
http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/genomic-study-method-type-cs  detection-of-homozygosityDetection of homozygosityDetection of homozygosity
http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/genomic-study-method-type-cs  enzyme-assayEnzyme assayEnzyme assay
http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/genomic-study-method-type-cs  fish-interphaseFISH-interphaseFISH-interphase
http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/genomic-study-method-type-cs  fish-metaphaseFISH-metaphaseFISH-metaphase
http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/genomic-study-method-type-cs  flow-cytometryFlow cytometryFlow cytometry
http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/genomic-study-method-type-cs  fishFluorescence in situ hybridization (FISH)Fluorescence in situ hybridization (FISH)
http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/genomic-study-method-type-cs  immunohistochemistryImmunohistochemistryImmunohistochemistry
http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/genomic-study-method-type-cs  karyotypingKaryotypingKaryotyping
http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/genomic-study-method-type-cs  linkage-analysisLinkage analysisLinkage analysis
http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/genomic-study-method-type-cs  methylation-analysisMethylation analysisMethylation analysis
http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/genomic-study-method-type-cs  msiMicrosatellite instability testing (MSI)Microsatellite instability testing (MSI)
http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/genomic-study-method-type-cs  m-fishMulticolor FISH (M-FISH)Multicolor FISH (M-FISH)
http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/genomic-study-method-type-cs  mutation-scanning-of-select-exonsMutation scanning of select exonsMutation scanning of select exons
http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/genomic-study-method-type-cs  mutation-scanning-of-the-entire-coding-regionMutation scanning of the entire coding regionMutation scanning of the entire coding region
http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/genomic-study-method-type-cs  protein-analysisProtein analysisProtein analysis
http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/genomic-study-method-type-cs  protein-expressionProtein expressionProtein expression
http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/genomic-study-method-type-cs  rna-analysisRNA analysisRNA analysis
http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/genomic-study-method-type-cs  sequence-analysis-of-select-exonsSequence analysis of select exonsSequence analysis of select exons
http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/genomic-study-method-type-cs  sequence-analysis-of-the-entire-coding-regionSequence analysis of the entire coding regionSequence analysis of the entire coding region
http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/genomic-study-method-type-cs  sister-chromatid-exchangeSister chromatid exchangeSister chromatid exchange
http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/genomic-study-method-type-cs  targeted-variant-analysisTargeted variant analysisTargeted variant analysis
http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/genomic-study-method-type-cs  udpUniparental disomy study (UPD)Uniparental disomy study (UPD)
http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/genomic-study-method-type-cs  aspeAllele-specific primer extension (ASPE)Allele-specific primer extension (ASPE)
http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/genomic-study-method-type-cs  alternative-splicing-detectionAlternative splicing detectionAlternative splicing detection
http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/genomic-study-method-type-cs  bi-directional-sanger-sequence-analysisBi-directional Sanger Sequence AnalysisBi-directional Sanger Sequence Analysis
http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/genomic-study-method-type-cs  c-bandingC-bandingC-banding
http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/genomic-study-method-type-cs  ciaChemiluminescent Immunoassay (CIA)Chemiluminescent Immunoassay (CIA)
http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/genomic-study-method-type-cs  chromatin-immunoprecipitation-on-chipChromatin Immunoprecipitation on ChIPChromatin Immunoprecipitation on ChIP
http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/genomic-study-method-type-cs  comparative-genomic-hybridizationComparative Genomic HybridizationComparative Genomic Hybridization
http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/genomic-study-method-type-cs  damidDamIDDamID
http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/genomic-study-method-type-cs  digital-virtual-karyotypingDigital / Virtual karyotypingDigital / Virtual karyotyping
http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/genomic-study-method-type-cs  digital-microfluidic-microspheresDigital microfluidic microspheresDigital microfluidic microspheres
http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/genomic-study-method-type-cs  enzymatic-levelsEnzymatic levelsEnzymatic levels
http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/genomic-study-method-type-cs  enzyme-activityEnzyme activityEnzyme activity
http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/genomic-study-method-type-cs  elisaEnzyme-Linked Immunosorbent Assays (ELISA)Enzyme-Linked Immunosorbent Assays (ELISA)
http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/genomic-study-method-type-cs  fluorometryFluorometryFluorometry
http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/genomic-study-method-type-cs  fusion-genes-microarraysFusion genes microarraysFusion genes microarrays
http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/genomic-study-method-type-cs  g-bandingG-bandingG-banding
http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/genomic-study-method-type-cs  gc-msGas chromatographymass spectrometry (GC-MS)Gas chromatographymass spectrometry (GC-MS)
http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/genomic-study-method-type-cs  gene-expression-profilingGene expression profilingGene expression profiling
http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/genomic-study-method-type-cs  gene-idGeneIDGeneID
http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/genomic-study-method-type-cs  gold-nanoparticle-probe-technologyGold nanoparticle probe technologyGold nanoparticle probe technology
http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/genomic-study-method-type-cs  hplcHigh-performance liquid chromatography (HPLC)High-performance liquid chromatography (HPLC)
http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/genomic-study-method-type-cs  lc-msLiquid chromatography mass spectrometry (LC-MS)Liquid chromatography mass spectrometry (LC-MS)
http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/genomic-study-method-type-cs  lc-ms-msLiquid chromatography-tandem mass spectrometry (LC-MS/MS)Liquid chromatography-tandem mass spectrometry (LC-MS/MS)
http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/genomic-study-method-type-cs  metabolite-levelsMetabolite levelsMetabolite levels
http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/genomic-study-method-type-cs  methylation-specific-pcrMethylation-specific PCRMethylation-specific PCR
http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/genomic-study-method-type-cs  microarrayMicroarrayMicroarray
http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/genomic-study-method-type-cs  mlpaMultiplex Ligation-dependent Probe Amplification (MLPA)Multiplex Ligation-dependent Probe Amplification (MLPA)
http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/genomic-study-method-type-cs  ngs-mpsNext-Generation (NGS)/Massively parallel sequencing (MPS)Next-Generation (NGS)/Massively parallel sequencing (MPS)
http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/genomic-study-method-type-cs  olaOligonucleotide Ligation Assay (OLA)Oligonucleotide Ligation Assay (OLA)
http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/genomic-study-method-type-cs  oligonucleotide-hybridization-based-dna-sequencingOligonucleotide hybridization-based DNA sequencingOligonucleotide hybridization-based DNA sequencing
http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/genomic-study-method-type-cs  otherOtherOther
http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/genomic-study-method-type-cs  pcrPCRPCR
http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/genomic-study-method-type-cs  pcr-with-allele-specific-hybridizationPCR with allele specific hybridizationPCR with allele specific hybridization
http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/genomic-study-method-type-cs  pcr-rflp-with-southern-hybridizationPCR-RFLP with Southern hybridizationPCR-RFLP with Southern hybridization
http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/genomic-study-method-type-cs  protein-truncation-testProtein truncation testProtein truncation test
http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/genomic-study-method-type-cs  pyrosequencingPyrosequencingPyrosequencing
http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/genomic-study-method-type-cs  q-bandingQ-bandingQ-banding
http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/genomic-study-method-type-cs  qpcrQuantitative PCR (qPCR)Quantitative PCR (qPCR)
http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/genomic-study-method-type-cs  r-bandingR-bandingR-banding
http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/genomic-study-method-type-cs  rflpRFLPRFLP
http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/genomic-study-method-type-cs  rt-lampRT-LAMPRT-LAMP
http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/genomic-study-method-type-cs  rt-pcrRT-PCRRT-PCR
http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/genomic-study-method-type-cs  rt-pcr-with-gel-analysisRT-PCR with gel analysisRT-PCR with gel analysis
http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/genomic-study-method-type-cs  rt-qpcrRT-qPCRRT-qPCR
http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/genomic-study-method-type-cs  snp-detectionSNP DetectionSNP Detection
http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/genomic-study-method-type-cs  silver-stainingSilver stainingSilver staining
http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/genomic-study-method-type-cs  skySpectral karyotyping (SKY)Spectral karyotyping (SKY)
http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/genomic-study-method-type-cs  t-bandingT-bandingT-banding
http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/genomic-study-method-type-cs  ms-msTandem mass spectrometry (MS/MS)Tandem mass spectrometry (MS/MS)
http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/genomic-study-method-type-cs  tetra-nucleotide-repeat-by-pcr-or-southern-blotTetra-nucleotide repeat by PCR or Southern BlotTetra-nucleotide repeat by PCR or Southern Blot
http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/genomic-study-method-type-cs  tiling-arraysTiling ArraysTiling Arrays
http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/genomic-study-method-type-cs  trinucleotide-repeat-by-pcr-or-southern-blotTrinucleotide repeat by PCR or Southern BlotTrinucleotide repeat by PCR or Southern Blot
http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/genomic-study-method-type-cs  uni-directional-sanger-sequencingUni-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