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4.4.1.527 ValueSet http://hl7.org/fhir/ValueSet/genomicstudy-methodtype

Clinical Genomics icon Work Group  Maturity Level: 1 Trial Use Use Context: Country: World
Official URL: http://hl7.org/fhir/ValueSet/genomicstudy-methodtype Version: 6.0.0-ballot3
draft as of 2022-08-16 Computable Name: GenomicStudyMethodType
Flags: OID: 2.16.840.1.113883.4.642.3.3085

This value set is used in the following places:

4.4.1.527.1 Definition

The method type of the GenomicStudy analysis.

4.4.1.527.2 Content Logical Definition

Generated Narrative: ValueSet genomicstudy-methodtype

Last updated: 2025-10-14T02:54:10.839+11:00

Profile: Shareable ValueSet

 

4.4.1.527.3 Expansion

This expansion generated 13 Oct 2025

ValueSet

Expansion performed internally based on codesystem Genomic Study Method Type v6.0.0-ballot3 (CodeSystem)

This value set contains 81 concepts

SystemCodeDisplayDefinition
http://hl7.org/fhir/genomicstudy-methodtype   biochemical-genetics Biochemical Genetics
http://hl7.org/fhir/genomicstudy-methodtype   cytogenetics Cytogenetics
http://hl7.org/fhir/genomicstudy-methodtype   molecular-genetics Molecular Genetics
http://hl7.org/fhir/genomicstudy-methodtype   analyte Analyte
http://hl7.org/fhir/genomicstudy-methodtype   chromosome-breakage-studies Chromosome breakage studies
http://hl7.org/fhir/genomicstudy-methodtype   deletion-duplication-analysis Deletion/duplication analysis
http://hl7.org/fhir/genomicstudy-methodtype   detection-of-homozygosity Detection of homozygosity
http://hl7.org/fhir/genomicstudy-methodtype   enzyme-assay Enzyme assay
http://hl7.org/fhir/genomicstudy-methodtype   fish-interphase FISH-interphase
http://hl7.org/fhir/genomicstudy-methodtype   fish-metaphase FISH-metaphase
http://hl7.org/fhir/genomicstudy-methodtype   flow-cytometry Flow cytometry
http://hl7.org/fhir/genomicstudy-methodtype   fish Fluorescence in situ hybridization (FISH)
http://hl7.org/fhir/genomicstudy-methodtype   immunohistochemistry Immunohistochemistry
http://hl7.org/fhir/genomicstudy-methodtype   karyotyping Karyotyping
http://hl7.org/fhir/genomicstudy-methodtype   linkage-analysis Linkage analysis
http://hl7.org/fhir/genomicstudy-methodtype   methylation-analysis Methylation analysis
http://hl7.org/fhir/genomicstudy-methodtype   msi Microsatellite instability testing (MSI)
http://hl7.org/fhir/genomicstudy-methodtype   m-fish Multicolor FISH (M-FISH)
http://hl7.org/fhir/genomicstudy-methodtype   mutation-scanning-of-select-exons Mutation scanning of select exons
http://hl7.org/fhir/genomicstudy-methodtype   mutation-scanning-of-the-entire-coding-region Mutation scanning of the entire coding region
http://hl7.org/fhir/genomicstudy-methodtype   protein-analysis Protein analysis
http://hl7.org/fhir/genomicstudy-methodtype   protein-expression Protein expression
http://hl7.org/fhir/genomicstudy-methodtype   rna-analysis RNA analysis
http://hl7.org/fhir/genomicstudy-methodtype   sequence-analysis-of-select-exons Sequence analysis of select exons
http://hl7.org/fhir/genomicstudy-methodtype   sequence-analysis-of-the-entire-coding-region Sequence analysis of the entire coding region
http://hl7.org/fhir/genomicstudy-methodtype   sister-chromatid-exchange Sister chromatid exchange
http://hl7.org/fhir/genomicstudy-methodtype   targeted-variant-analysis Targeted variant analysis
http://hl7.org/fhir/genomicstudy-methodtype   udp Uniparental disomy study (UPD)
http://hl7.org/fhir/genomicstudy-methodtype   aspe Allele-specific primer extension (ASPE)
http://hl7.org/fhir/genomicstudy-methodtype   alternative-splicing-detection Alternative splicing detection
http://hl7.org/fhir/genomicstudy-methodtype   bi-directional-sanger-sequence-analysis Bi-directional Sanger Sequence Analysis
http://hl7.org/fhir/genomicstudy-methodtype   c-banding C-banding
http://hl7.org/fhir/genomicstudy-methodtype   cia Chemiluminescent Immunoassay (CIA)
http://hl7.org/fhir/genomicstudy-methodtype   chromatin-immunoprecipitation-on-chip Chromatin Immunoprecipitation on ChIP
http://hl7.org/fhir/genomicstudy-methodtype   comparative-genomic-hybridization Comparative Genomic Hybridization
http://hl7.org/fhir/genomicstudy-methodtype   damid DamID
http://hl7.org/fhir/genomicstudy-methodtype   digital-virtual-karyotyping Digital / Virtual karyotyping
http://hl7.org/fhir/genomicstudy-methodtype   digital-microfluidic-microspheres Digital microfluidic microspheres
http://hl7.org/fhir/genomicstudy-methodtype   enzymatic-levels Enzymatic levels
http://hl7.org/fhir/genomicstudy-methodtype   enzyme-activity Enzyme activity
http://hl7.org/fhir/genomicstudy-methodtype   elisa Enzyme-Linked Immunosorbent Assays (ELISA)
http://hl7.org/fhir/genomicstudy-methodtype   fluorometry Fluorometry
http://hl7.org/fhir/genomicstudy-methodtype   fusion-genes-microarrays Fusion genes microarrays
http://hl7.org/fhir/genomicstudy-methodtype   g-banding G-banding
http://hl7.org/fhir/genomicstudy-methodtype   gc-ms Gas chromatography–mass spectrometry (GC-MS)
http://hl7.org/fhir/genomicstudy-methodtype   gene-expression-profiling Gene expression profiling
http://hl7.org/fhir/genomicstudy-methodtype   gene-id GeneID
http://hl7.org/fhir/genomicstudy-methodtype   gold-nanoparticle-probe-technology Gold nanoparticle probe technology
http://hl7.org/fhir/genomicstudy-methodtype   hplc High-performance liquid chromatography (HPLC)
http://hl7.org/fhir/genomicstudy-methodtype   lc-ms Liquid chromatography mass spectrometry (LC-MS)
http://hl7.org/fhir/genomicstudy-methodtype   lc-ms-ms Liquid chromatography-tandem mass spectrometry (LC-MS/MS)
http://hl7.org/fhir/genomicstudy-methodtype   metabolite-levels Metabolite levels
http://hl7.org/fhir/genomicstudy-methodtype   methylation-specific-pcr Methylation-specific PCR
http://hl7.org/fhir/genomicstudy-methodtype   microarray Microarray
http://hl7.org/fhir/genomicstudy-methodtype   mlpa Multiplex Ligation-dependent Probe Amplification (MLPA)
http://hl7.org/fhir/genomicstudy-methodtype   ngs-mps Next-Generation (NGS)/Massively parallel sequencing (MPS)
http://hl7.org/fhir/genomicstudy-methodtype   ola Oligonucleotide Ligation Assay (OLA)
http://hl7.org/fhir/genomicstudy-methodtype   oligonucleotide-hybridization-based-dna-sequencing Oligonucleotide hybridization-based DNA sequencing
http://hl7.org/fhir/genomicstudy-methodtype   other Other
http://hl7.org/fhir/genomicstudy-methodtype   pcr PCR
http://hl7.org/fhir/genomicstudy-methodtype   pcr-with-allele-specific-hybridization PCR with allele specific hybridization
http://hl7.org/fhir/genomicstudy-methodtype   pcr-rflp-with-southern-hybridization PCR-RFLP with Southern hybridization
http://hl7.org/fhir/genomicstudy-methodtype   protein-truncation-test Protein truncation test
http://hl7.org/fhir/genomicstudy-methodtype   pyrosequencing Pyrosequencing
http://hl7.org/fhir/genomicstudy-methodtype   q-banding Q-banding
http://hl7.org/fhir/genomicstudy-methodtype   qpcr Quantitative PCR (qPCR)
http://hl7.org/fhir/genomicstudy-methodtype   r-banding R-banding
http://hl7.org/fhir/genomicstudy-methodtype   rflp RFLP
http://hl7.org/fhir/genomicstudy-methodtype   rt-lamp RT-LAMP
http://hl7.org/fhir/genomicstudy-methodtype   rt-pcr RT-PCR
http://hl7.org/fhir/genomicstudy-methodtype   rt-pcr-with-gel-analysis RT-PCR with gel analysis
http://hl7.org/fhir/genomicstudy-methodtype   rt-qpcr RT-qPCR
http://hl7.org/fhir/genomicstudy-methodtype   snp-detection SNP Detection
http://hl7.org/fhir/genomicstudy-methodtype   silver-staining Silver staining
http://hl7.org/fhir/genomicstudy-methodtype   sky Spectral karyotyping (SKY)
http://hl7.org/fhir/genomicstudy-methodtype   t-banding T-banding
http://hl7.org/fhir/genomicstudy-methodtype   ms-ms Tandem mass spectrometry (MS/MS)
http://hl7.org/fhir/genomicstudy-methodtype   tetra-nucleotide-repeat-by-pcr-or-southern-blot Tetra-nucleotide repeat by PCR or Southern Blot
http://hl7.org/fhir/genomicstudy-methodtype   tiling-arrays Tiling Arrays
http://hl7.org/fhir/genomicstudy-methodtype   trinucleotide-repeat-by-pcr-or-southern-blot Trinucleotide repeat by PCR or Southern Blot
http://hl7.org/fhir/genomicstudy-methodtype   uni-directional-sanger-sequencing Uni-directional Sanger sequencing

 

See the full registry of value sets defined as part of FHIR.

Explanation of the columns that may appear on this page:

Lvl A few code lists that FHIR defines are hierarchical - each code is assigned a level. For value sets, levels are mostly used to organize codes for user convenience, but may follow code system hierarchy - see Code System for further information
Source 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). If the code is in italics, this indicates that the code is not selectable ('Abstract')
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