Release 5

This page is part of the FHIR Specification (v5.0.0: R5 - STU). This is the current published version in it's permanent home (it will always be available at this URL). For a full list of available versions, see the Directory of published versions

4.3.2.427 CodeSystem http://hl7.org/fhir/genomicstudy-methodtype

Clinical Genomics icon Work Group Maturity Level: 1Trial Use Use Context: Country: World, Not yet ready for Production use
Official URL: http://hl7.org/fhir/genomicstudy-methodtype Version: 5.0.0
active as of 2022-08-17 Computable Name: GenomicStudyMethodType
Flags: Experimental, CaseSensitive, Complete. All codes ValueSet: Genomic Study Method Type OID: 2.16.840.1.113883.4.642.4.1979

This Code system is used in the following value sets:

4.3.2.427.1 Definition

The method type of the GenomicStudy analysis. These method types and relevant codes were pulled from National Library of Medicine-Genetic Testing Registry icon (NCBI-GTR) values of describing different testing methods on various levels: major method category icon, method category icon, and primary methodology icon

4.3.2.427.2 Content

This code system http://hl7.org/fhir/genomicstudy-methodtype defines the following codes:

CodeDisplayCopy
biochemical-genetics Biochemical Geneticsbtn btn
cytogenetics Cytogeneticsbtn btn
molecular-genetics Molecular Geneticsbtn btn
analyte Analytebtn btn
chromosome-breakage-studies Chromosome breakage studiesbtn btn
deletion-duplication-analysis Deletion/duplication analysisbtn btn
detection-of-homozygosity Detection of homozygositybtn btn
enzyme-assay Enzyme assaybtn btn
fish-interphase FISH-interphasebtn btn
fish-metaphase FISH-metaphasebtn btn
flow-cytometry Flow cytometrybtn btn
fish Fluorescence in situ hybridization (FISH)btn btn
immunohistochemistry Immunohistochemistrybtn btn
karyotyping Karyotypingbtn btn
linkage-analysis Linkage analysisbtn btn
methylation-analysis Methylation analysisbtn btn
msi Microsatellite instability testing (MSI)btn btn
m-fish Multicolor FISH (M-FISH)btn btn
mutation-scanning-of-select-exons Mutation scanning of select exonsbtn btn
mutation-scanning-of-the-entire-coding-region Mutation scanning of the entire coding regionbtn btn
protein-analysis Protein analysisbtn btn
protein-expression Protein expressionbtn btn
rna-analysis RNA analysisbtn btn
sequence-analysis-of-select-exons Sequence analysis of select exonsbtn btn
sequence-analysis-of-the-entire-coding-region Sequence analysis of the entire coding regionbtn btn
sister-chromatid-exchange Sister chromatid exchangebtn btn
targeted-variant-analysis Targeted variant analysisbtn btn
udp Uniparental disomy study (UPD)btn btn
aspe Allele-specific primer extension (ASPE)btn btn
alternative-splicing-detection Alternative splicing detectionbtn btn
bi-directional-sanger-sequence-analysis Bi-directional Sanger Sequence Analysisbtn btn
c-banding C-bandingbtn btn
cia Chemiluminescent Immunoassay (CIA)btn btn
chromatin-immunoprecipitation-on-chip Chromatin Immunoprecipitation on ChIPbtn btn
comparative-genomic-hybridization Comparative Genomic Hybridizationbtn btn
damid DamIDbtn btn
digital-virtual-karyotyping Digital / Virtual karyotypingbtn btn
digital-microfluidic-microspheres Digital microfluidic microspheresbtn btn
enzymatic-levels Enzymatic levelsbtn btn
enzyme-activity Enzyme activitybtn btn
elisa Enzyme-Linked Immunosorbent Assays (ELISA)btn btn
fluorometry Fluorometrybtn btn
fusion-genes-microarrays Fusion genes microarraysbtn btn
g-banding G-bandingbtn btn
gc-ms Gas chromatography–mass spectrometry (GC-MS)btn btn
gene-expression-profiling Gene expression profilingbtn btn
gene-id GeneIDbtn btn
gold-nanoparticle-probe-technology Gold nanoparticle probe technologybtn btn
hplc High-performance liquid chromatography (HPLC)btn btn
lc-ms Liquid chromatography mass spectrometry (LC-MS)btn btn
lc-ms-ms Liquid chromatography-tandem mass spectrometry (LC-MS/MS)btn btn
metabolite-levels Metabolite levelsbtn btn
methylation-specific-pcr Methylation-specific PCRbtn btn
microarray Microarraybtn btn
mlpa Multiplex Ligation-dependent Probe Amplification (MLPA)btn btn
ngs-mps Next-Generation (NGS)/Massively parallel sequencing (MPS)btn btn
ola Oligonucleotide Ligation Assay (OLA)btn btn
oligonucleotide-hybridization-based-dna-sequencing Oligonucleotide hybridization-based DNA sequencingbtn btn
other Otherbtn btn
pcr PCRbtn btn
pcr-with-allele-specific-hybridization PCR with allele specific hybridizationbtn btn
pcr-rflp-with-southern-hybridization PCR-RFLP with Southern hybridizationbtn btn
protein-truncation-test Protein truncation testbtn btn
pyrosequencing Pyrosequencingbtn btn
q-banding Q-bandingbtn btn
qpcr Quantitative PCR (qPCR)btn btn
r-banding R-bandingbtn btn
rflp RFLPbtn btn
rt-lamp RT-LAMPbtn btn
rt-pcr RT-PCRbtn btn
rt-pcr-with-gel-analysis RT-PCR with gel analysisbtn btn
rt-qpcr RT-qPCRbtn btn
snp-detection SNP Detectionbtn btn
silver-staining Silver stainingbtn btn
sky Spectral karyotyping (SKY)btn btn
t-banding T-bandingbtn btn
ms-ms Tandem mass spectrometry (MS/MS)btn btn
tetra-nucleotide-repeat-by-pcr-or-southern-blot Tetra-nucleotide repeat by PCR or Southern Blotbtn btn
tiling-arrays Tiling Arraysbtn btn
trinucleotide-repeat-by-pcr-or-southern-blot Trinucleotide repeat by PCR or Southern Blotbtn btn
uni-directional-sanger-sequencing Uni-directional Sanger sequencingbtn btn

 

See the full registry of code systems defined as part of FHIR.

Explanation of the columns that may appear on this page:

LevelA few code lists that FHIR defines are hierarchical - each code is assigned a level. See Code System for further information.
SourceThe source of the definition of the code (when the value set draws in codes defined elsewhere)
CodeThe code (used as the code in the resource instance). If the code is in italics, this indicates that the code is not selectable ('Abstract')
DisplayThe 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
DefinitionAn explanation of the meaning of the concept
CommentsAdditional notes about how to use the code