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

Clinical Genomics icon Work Group  Maturity Level: 1 Trial Use Use Context: Country: World, Not yet ready for Production use
Official URL: http://hl7.org/fhir/genomicstudy-methodtype Version: 6.0.0-ballot2
active as of 2022-08-16 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:

4.3.2.433.1 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

4.3.2.433.2 Content

Generated Narrative: CodeSystem genomicstudy-methodtype

Last updated: 2024-11-07T09:43:37-05:00

Profile: Shareable CodeSystem

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

CodeDisplayCopy
biochemical-genetics Biochemical Genetics btn btn
cytogenetics Cytogenetics btn btn
molecular-genetics Molecular Genetics btn btn
analyte Analyte btn btn
chromosome-breakage-studies Chromosome breakage studies btn btn
deletion-duplication-analysis Deletion/duplication analysis btn btn
detection-of-homozygosity Detection of homozygosity btn btn
enzyme-assay Enzyme assay btn btn
fish-interphase FISH-interphase btn btn
fish-metaphase FISH-metaphase btn btn
flow-cytometry Flow cytometry btn btn
fish Fluorescence in situ hybridization (FISH) btn btn
immunohistochemistry Immunohistochemistry btn btn
karyotyping Karyotyping btn btn
linkage-analysis Linkage analysis btn btn
methylation-analysis Methylation analysis btn 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 exons btn btn
mutation-scanning-of-the-entire-coding-region Mutation scanning of the entire coding region btn btn
protein-analysis Protein analysis btn btn
protein-expression Protein expression btn btn
rna-analysis RNA analysis btn btn
sequence-analysis-of-select-exons Sequence analysis of select exons btn btn
sequence-analysis-of-the-entire-coding-region Sequence analysis of the entire coding region btn btn
sister-chromatid-exchange Sister chromatid exchange btn btn
targeted-variant-analysis Targeted variant analysis btn btn
udp Uniparental disomy study (UPD) btn btn
aspe Allele-specific primer extension (ASPE) btn btn
alternative-splicing-detection Alternative splicing detection btn btn
bi-directional-sanger-sequence-analysis Bi-directional Sanger Sequence Analysis btn btn
c-banding C-banding btn btn
cia Chemiluminescent Immunoassay (CIA) btn btn
chromatin-immunoprecipitation-on-chip Chromatin Immunoprecipitation on ChIP btn btn
comparative-genomic-hybridization Comparative Genomic Hybridization btn btn
damid DamID btn btn
digital-virtual-karyotyping Digital / Virtual karyotyping btn btn
digital-microfluidic-microspheres Digital microfluidic microspheres btn btn
enzymatic-levels Enzymatic levels btn btn
enzyme-activity Enzyme activity btn btn
elisa Enzyme-Linked Immunosorbent Assays (ELISA) btn btn
fluorometry Fluorometry btn btn
fusion-genes-microarrays Fusion genes microarrays btn btn
g-banding G-banding btn btn
gc-ms Gas chromatography–mass spectrometry (GC-MS) btn btn
gene-expression-profiling Gene expression profiling btn btn
gene-id GeneID btn btn
gold-nanoparticle-probe-technology Gold nanoparticle probe technology btn 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 levels btn btn
methylation-specific-pcr Methylation-specific PCR btn btn
microarray Microarray btn 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 sequencing btn btn
other Other btn btn
pcr PCR btn btn
pcr-with-allele-specific-hybridization PCR with allele specific hybridization btn btn
pcr-rflp-with-southern-hybridization PCR-RFLP with Southern hybridization btn btn
protein-truncation-test Protein truncation test btn btn
pyrosequencing Pyrosequencing btn btn
q-banding Q-banding btn btn
qpcr Quantitative PCR (qPCR) btn btn
r-banding R-banding btn btn
rflp RFLP btn btn
rt-lamp RT-LAMP btn btn
rt-pcr RT-PCR btn btn
rt-pcr-with-gel-analysis RT-PCR with gel analysis btn btn
rt-qpcr RT-qPCR btn btn
snp-detection SNP Detection btn btn
silver-staining Silver staining btn btn
sky Spectral karyotyping (SKY) btn btn
t-banding T-banding btn 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 Blot btn btn
tiling-arrays Tiling Arrays btn btn
trinucleotide-repeat-by-pcr-or-southern-blot Trinucleotide repeat by PCR or Southern Blot btn btn
uni-directional-sanger-sequencing Uni-directional Sanger sequencing btn btn

 

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

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. 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