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

SystemCodeDisplay (en)JSONXML
http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/genomic-study-method-type-cs  biochemical-geneticsBiochemical Genetics
http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/genomic-study-method-type-cs  cytogeneticsCytogenetics
http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/genomic-study-method-type-cs  molecular-geneticsMolecular Genetics
http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/genomic-study-method-type-cs  analyteAnalyte
http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/genomic-study-method-type-cs  chromosome-breakage-studiesChromosome breakage studies
http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/genomic-study-method-type-cs  deletion-duplication-analysisDeletion/duplication analysis
http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/genomic-study-method-type-cs  detection-of-homozygosityDetection of homozygosity
http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/genomic-study-method-type-cs  enzyme-assayEnzyme assay
http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/genomic-study-method-type-cs  fish-interphaseFISH-interphase
http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/genomic-study-method-type-cs  fish-metaphaseFISH-metaphase
http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/genomic-study-method-type-cs  flow-cytometryFlow cytometry
http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/genomic-study-method-type-cs  fishFluorescence in situ hybridization (FISH)
http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/genomic-study-method-type-cs  immunohistochemistryImmunohistochemistry
http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/genomic-study-method-type-cs  karyotypingKaryotyping
http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/genomic-study-method-type-cs  linkage-analysisLinkage analysis
http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/genomic-study-method-type-cs  methylation-analysisMethylation analysis
http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/genomic-study-method-type-cs  msiMicrosatellite instability testing (MSI)
http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/genomic-study-method-type-cs  m-fishMulticolor FISH (M-FISH)
http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/genomic-study-method-type-cs  mutation-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 region
http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/genomic-study-method-type-cs  protein-analysisProtein analysis
http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/genomic-study-method-type-cs  protein-expressionProtein expression
http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/genomic-study-method-type-cs  rna-analysisRNA analysis
http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/genomic-study-method-type-cs  sequence-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 region
http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/genomic-study-method-type-cs  sister-chromatid-exchangeSister chromatid exchange
http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/genomic-study-method-type-cs  targeted-variant-analysisTargeted variant analysis
http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/genomic-study-method-type-cs  udpUniparental disomy study (UPD)
http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/genomic-study-method-type-cs  aspeAllele-specific primer extension (ASPE)
http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/genomic-study-method-type-cs  alternative-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 Analysis
http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/genomic-study-method-type-cs  c-bandingC-banding
http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/genomic-study-method-type-cs  ciaChemiluminescent Immunoassay (CIA)
http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/genomic-study-method-type-cs  chromatin-immunoprecipitation-on-chipChromatin Immunoprecipitation on ChIP
http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/genomic-study-method-type-cs  comparative-genomic-hybridizationComparative Genomic Hybridization
http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/genomic-study-method-type-cs  damidDamID
http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/genomic-study-method-type-cs  digital-virtual-karyotypingDigital / Virtual karyotyping
http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/genomic-study-method-type-cs  digital-microfluidic-microspheresDigital microfluidic microspheres
http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/genomic-study-method-type-cs  enzymatic-levelsEnzymatic levels
http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/genomic-study-method-type-cs  enzyme-activityEnzyme activity
http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/genomic-study-method-type-cs  elisaEnzyme-Linked Immunosorbent Assays (ELISA)
http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/genomic-study-method-type-cs  fluorometryFluorometry
http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/genomic-study-method-type-cs  fusion-genes-microarraysFusion genes microarrays
http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/genomic-study-method-type-cs  g-bandingG-banding
http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/genomic-study-method-type-cs  gc-msGas chromatographymass spectrometry (GC-MS)
http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/genomic-study-method-type-cs  gene-expression-profilingGene expression profiling
http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/genomic-study-method-type-cs  gene-idGeneID
http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/genomic-study-method-type-cs  gold-nanoparticle-probe-technologyGold nanoparticle probe technology
http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/genomic-study-method-type-cs  hplcHigh-performance liquid chromatography (HPLC)
http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/genomic-study-method-type-cs  lc-msLiquid 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)
http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/genomic-study-method-type-cs  metabolite-levelsMetabolite levels
http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/genomic-study-method-type-cs  methylation-specific-pcrMethylation-specific PCR
http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/genomic-study-method-type-cs  microarrayMicroarray
http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/genomic-study-method-type-cs  mlpaMultiplex 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)
http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/genomic-study-method-type-cs  olaOligonucleotide Ligation Assay (OLA)
http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/genomic-study-method-type-cs  oligonucleotide-hybridization-based-dna-sequencingOligonucleotide hybridization-based DNA sequencing
http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/genomic-study-method-type-cs  otherOther
http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/genomic-study-method-type-cs  pcrPCR
http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/genomic-study-method-type-cs  pcr-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 hybridization
http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/genomic-study-method-type-cs  protein-truncation-testProtein truncation test
http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/genomic-study-method-type-cs  pyrosequencingPyrosequencing
http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/genomic-study-method-type-cs  q-bandingQ-banding
http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/genomic-study-method-type-cs  qpcrQuantitative PCR (qPCR)
http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/genomic-study-method-type-cs  r-bandingR-banding
http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/genomic-study-method-type-cs  rflpRFLP
http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/genomic-study-method-type-cs  rt-lampRT-LAMP
http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/genomic-study-method-type-cs  rt-pcrRT-PCR
http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/genomic-study-method-type-cs  rt-pcr-with-gel-analysisRT-PCR with gel analysis
http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/genomic-study-method-type-cs  rt-qpcrRT-qPCR
http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/genomic-study-method-type-cs  snp-detectionSNP Detection
http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/genomic-study-method-type-cs  silver-stainingSilver staining
http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/genomic-study-method-type-cs  skySpectral karyotyping (SKY)
http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/genomic-study-method-type-cs  t-bandingT-banding
http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/genomic-study-method-type-cs  ms-msTandem 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 Blot
http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/genomic-study-method-type-cs  tiling-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 Blot
http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/genomic-study-method-type-cs  uni-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