This page is part of the FHIR Specification (v5.0.0: R5 - STU). This is the current published version. For a full list of available versions, see the Directory of published versions
Clinical Genomics Work Group | Maturity Level: 1 | Trial Use | Use Context: Country: World, Not yet ready for Production use |
Official URL: http://hl7.org/fhir/ValueSet/genomicstudy-methodtype
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Version: 5.0.0 | |||
draft as of 2022-08-17 | Computable Name: GenomicStudyMethodType | |||
Flags: Experimental | OID: 2.16.840.1.113883.4.642.3.3085 |
This value set is used in the following places:
The method type of the GenomicStudy analysis.
http://hl7.org/fhir/genomicstudy-methodtype
This expansion generated 26 Mar 2023
This value set contains 81 concepts
Expansion based on Genomic Study Method Type v5.0.0 (CodeSystem)
Code | System | Display |
biochemical-genetics | http://hl7.org/fhir/genomicstudy-methodtype | Biochemical Genetics |
cytogenetics | http://hl7.org/fhir/genomicstudy-methodtype | Cytogenetics |
molecular-genetics | http://hl7.org/fhir/genomicstudy-methodtype | Molecular Genetics |
analyte | http://hl7.org/fhir/genomicstudy-methodtype | Analyte |
chromosome-breakage-studies | http://hl7.org/fhir/genomicstudy-methodtype | Chromosome breakage studies |
deletion-duplication-analysis | http://hl7.org/fhir/genomicstudy-methodtype | Deletion/duplication analysis |
detection-of-homozygosity | http://hl7.org/fhir/genomicstudy-methodtype | Detection of homozygosity |
enzyme-assay | http://hl7.org/fhir/genomicstudy-methodtype | Enzyme assay |
fish-interphase | http://hl7.org/fhir/genomicstudy-methodtype | FISH-interphase |
fish-metaphase | http://hl7.org/fhir/genomicstudy-methodtype | FISH-metaphase |
flow-cytometry | http://hl7.org/fhir/genomicstudy-methodtype | Flow cytometry |
fish | http://hl7.org/fhir/genomicstudy-methodtype | Fluorescence in situ hybridization (FISH) |
immunohistochemistry | http://hl7.org/fhir/genomicstudy-methodtype | Immunohistochemistry |
karyotyping | http://hl7.org/fhir/genomicstudy-methodtype | Karyotyping |
linkage-analysis | http://hl7.org/fhir/genomicstudy-methodtype | Linkage analysis |
methylation-analysis | http://hl7.org/fhir/genomicstudy-methodtype | Methylation analysis |
msi | http://hl7.org/fhir/genomicstudy-methodtype | Microsatellite instability testing (MSI) |
m-fish | http://hl7.org/fhir/genomicstudy-methodtype | Multicolor FISH (M-FISH) |
mutation-scanning-of-select-exons | http://hl7.org/fhir/genomicstudy-methodtype | Mutation scanning of select exons |
mutation-scanning-of-the-entire-coding-region | http://hl7.org/fhir/genomicstudy-methodtype | Mutation scanning of the entire coding region |
protein-analysis | http://hl7.org/fhir/genomicstudy-methodtype | Protein analysis |
protein-expression | http://hl7.org/fhir/genomicstudy-methodtype | Protein expression |
rna-analysis | http://hl7.org/fhir/genomicstudy-methodtype | RNA analysis |
sequence-analysis-of-select-exons | http://hl7.org/fhir/genomicstudy-methodtype | Sequence analysis of select exons |
sequence-analysis-of-the-entire-coding-region | http://hl7.org/fhir/genomicstudy-methodtype | Sequence analysis of the entire coding region |
sister-chromatid-exchange | http://hl7.org/fhir/genomicstudy-methodtype | Sister chromatid exchange |
targeted-variant-analysis | http://hl7.org/fhir/genomicstudy-methodtype | Targeted variant analysis |
udp | http://hl7.org/fhir/genomicstudy-methodtype | Uniparental disomy study (UPD) |
aspe | http://hl7.org/fhir/genomicstudy-methodtype | Allele-specific primer extension (ASPE) |
alternative-splicing-detection | http://hl7.org/fhir/genomicstudy-methodtype | Alternative splicing detection |
bi-directional-sanger-sequence-analysis | http://hl7.org/fhir/genomicstudy-methodtype | Bi-directional Sanger Sequence Analysis |
c-banding | http://hl7.org/fhir/genomicstudy-methodtype | C-banding |
cia | http://hl7.org/fhir/genomicstudy-methodtype | Chemiluminescent Immunoassay (CIA) |
chromatin-immunoprecipitation-on-chip | http://hl7.org/fhir/genomicstudy-methodtype | Chromatin Immunoprecipitation on ChIP |
comparative-genomic-hybridization | http://hl7.org/fhir/genomicstudy-methodtype | Comparative Genomic Hybridization |
damid | http://hl7.org/fhir/genomicstudy-methodtype | DamID |
digital-virtual-karyotyping | http://hl7.org/fhir/genomicstudy-methodtype | Digital / Virtual karyotyping |
digital-microfluidic-microspheres | http://hl7.org/fhir/genomicstudy-methodtype | Digital microfluidic microspheres |
enzymatic-levels | http://hl7.org/fhir/genomicstudy-methodtype | Enzymatic levels |
enzyme-activity | http://hl7.org/fhir/genomicstudy-methodtype | Enzyme activity |
elisa | http://hl7.org/fhir/genomicstudy-methodtype | Enzyme-Linked Immunosorbent Assays (ELISA) |
fluorometry | http://hl7.org/fhir/genomicstudy-methodtype | Fluorometry |
fusion-genes-microarrays | http://hl7.org/fhir/genomicstudy-methodtype | Fusion genes microarrays |
g-banding | http://hl7.org/fhir/genomicstudy-methodtype | G-banding |
gc-ms | http://hl7.org/fhir/genomicstudy-methodtype | Gas chromatography–mass spectrometry (GC-MS) |
gene-expression-profiling | http://hl7.org/fhir/genomicstudy-methodtype | Gene expression profiling |
gene-id | http://hl7.org/fhir/genomicstudy-methodtype | GeneID |
gold-nanoparticle-probe-technology | http://hl7.org/fhir/genomicstudy-methodtype | Gold nanoparticle probe technology |
hplc | http://hl7.org/fhir/genomicstudy-methodtype | High-performance liquid chromatography (HPLC) |
lc-ms | http://hl7.org/fhir/genomicstudy-methodtype | Liquid chromatography mass spectrometry (LC-MS) |
lc-ms-ms | http://hl7.org/fhir/genomicstudy-methodtype | Liquid chromatography-tandem mass spectrometry (LC-MS/MS) |
metabolite-levels | http://hl7.org/fhir/genomicstudy-methodtype | Metabolite levels |
methylation-specific-pcr | http://hl7.org/fhir/genomicstudy-methodtype | Methylation-specific PCR |
microarray | http://hl7.org/fhir/genomicstudy-methodtype | Microarray |
mlpa | http://hl7.org/fhir/genomicstudy-methodtype | Multiplex Ligation-dependent Probe Amplification (MLPA) |
ngs-mps | http://hl7.org/fhir/genomicstudy-methodtype | Next-Generation (NGS)/Massively parallel sequencing (MPS) |
ola | http://hl7.org/fhir/genomicstudy-methodtype | Oligonucleotide Ligation Assay (OLA) |
oligonucleotide-hybridization-based-dna-sequencing | http://hl7.org/fhir/genomicstudy-methodtype | Oligonucleotide hybridization-based DNA sequencing |
other | http://hl7.org/fhir/genomicstudy-methodtype | Other |
pcr | http://hl7.org/fhir/genomicstudy-methodtype | PCR |
pcr-with-allele-specific-hybridization | http://hl7.org/fhir/genomicstudy-methodtype | PCR with allele specific hybridization |
pcr-rflp-with-southern-hybridization | http://hl7.org/fhir/genomicstudy-methodtype | PCR-RFLP with Southern hybridization |
protein-truncation-test | http://hl7.org/fhir/genomicstudy-methodtype | Protein truncation test |
pyrosequencing | http://hl7.org/fhir/genomicstudy-methodtype | Pyrosequencing |
q-banding | http://hl7.org/fhir/genomicstudy-methodtype | Q-banding |
qpcr | http://hl7.org/fhir/genomicstudy-methodtype | Quantitative PCR (qPCR) |
r-banding | http://hl7.org/fhir/genomicstudy-methodtype | R-banding |
rflp | http://hl7.org/fhir/genomicstudy-methodtype | RFLP |
rt-lamp | http://hl7.org/fhir/genomicstudy-methodtype | RT-LAMP |
rt-pcr | http://hl7.org/fhir/genomicstudy-methodtype | RT-PCR |
rt-pcr-with-gel-analysis | http://hl7.org/fhir/genomicstudy-methodtype | RT-PCR with gel analysis |
rt-qpcr | http://hl7.org/fhir/genomicstudy-methodtype | RT-qPCR |
snp-detection | http://hl7.org/fhir/genomicstudy-methodtype | SNP Detection |
silver-staining | http://hl7.org/fhir/genomicstudy-methodtype | Silver staining |
sky | http://hl7.org/fhir/genomicstudy-methodtype | Spectral karyotyping (SKY) |
t-banding | http://hl7.org/fhir/genomicstudy-methodtype | T-banding |
ms-ms | http://hl7.org/fhir/genomicstudy-methodtype | Tandem mass spectrometry (MS/MS) |
tetra-nucleotide-repeat-by-pcr-or-southern-blot | http://hl7.org/fhir/genomicstudy-methodtype | Tetra-nucleotide repeat by PCR or Southern Blot |
tiling-arrays | http://hl7.org/fhir/genomicstudy-methodtype | Tiling Arrays |
trinucleotide-repeat-by-pcr-or-southern-blot | http://hl7.org/fhir/genomicstudy-methodtype | Trinucleotide repeat by PCR or Southern Blot |
uni-directional-sanger-sequencing | http://hl7.org/fhir/genomicstudy-methodtype | 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 |