Genomics Reporting Implementation Guide
3.0.1-SNAPSHOT - 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 3.0.1-SNAPSHOT built by the FHIR (HL7® FHIR® Standard) CI Build. This version is based on the current content of and changes regularly. See the Directory of published versions

ValueSet: Genomic Study Method Type ValueSet

Official URL: Version: 3.0.1-SNAPSHOT
Active as of 2024-07-15 Computable Name: GenomicStudyMethodTypeVS

Backport of


Logical Definition (CLD)

Generated Narrative: ValueSet genomic-study-method-type-vs



Generated Narrative: ValueSet

Expansion based on codesystem Genomic Study Method Type CodeSystem v3.0.1-SNAPSHOT (CodeSystem)

This value set contains 81 concepts

  biochemical-genetics Genetics
  molecular-genetics Genetics
  chromosome-breakage-studies breakage studies
  deletion-duplication-analysis analysis
  detection-of-homozygosity of homozygosity
  enzyme-assay assay
  flow-cytometry cytometry
  fish in situ hybridization (FISH)
  linkage-analysis analysis
  methylation-analysis analysis
  msi instability testing (MSI)
  m-fish FISH (M-FISH)
  mutation-scanning-of-select-exons scanning of select exons
  mutation-scanning-of-the-entire-coding-region scanning of the entire coding region
  protein-analysis analysis
  protein-expression expression
  rna-analysis analysis
  sequence-analysis-of-select-exons analysis of select exons
  sequence-analysis-of-the-entire-coding-region analysis of the entire coding region
  sister-chromatid-exchange chromatid exchange
  targeted-variant-analysis variant analysis
  udp disomy study (UPD)
  aspe primer extension (ASPE)
  alternative-splicing-detection splicing detection
  bi-directional-sanger-sequence-analysis Sanger Sequence Analysis
  cia Immunoassay (CIA)
  chromatin-immunoprecipitation-on-chip Immunoprecipitation on ChIP
  comparative-genomic-hybridization Genomic Hybridization
  digital-virtual-karyotyping / Virtual karyotyping
  digital-microfluidic-microspheres microfluidic microspheres
  enzymatic-levels levels
  enzyme-activity activity
  elisa Immunosorbent Assays (ELISA)
  fusion-genes-microarrays genes microarrays
  gc-ms chromatographymass spectrometry (GC-MS)
  gene-expression-profiling expression profiling
  gold-nanoparticle-probe-technology nanoparticle probe technology
  hplc liquid chromatography (HPLC)
  lc-ms chromatography mass spectrometry (LC-MS)
  lc-ms-ms chromatography-tandem mass spectrometry (LC-MS/MS)
  metabolite-levels levels
  methylation-specific-pcr PCR
  mlpa Ligation-dependent Probe Amplification (MLPA)
  ngs-mps (NGS)/Massively parallel sequencing (MPS)
  ola Ligation Assay (OLA)
  oligonucleotide-hybridization-based-dna-sequencing hybridization-based DNA sequencing
  pcr-with-allele-specific-hybridization with allele specific hybridization
  pcr-rflp-with-southern-hybridization with Southern hybridization
  protein-truncation-test truncation test
  qpcr PCR (qPCR)
  rt-pcr-with-gel-analysis with gel analysis
  snp-detection Detection
  silver-staining staining
  sky karyotyping (SKY)
  ms-ms mass spectrometry (MS/MS)
  tetra-nucleotide-repeat-by-pcr-or-southern-blot repeat by PCR or Southern Blot
  tiling-arrays Arrays
  trinucleotide-repeat-by-pcr-or-southern-blot repeat by PCR or Southern Blot
  uni-directional-sanger-sequencing 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