GenomicStudyMethodType

Genomic Study Method Type

activeExtensions for Using Data Elements from FHIR R5 in FHIR R40.1.0complete81 concepts

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

Metadata

hl7.org/fhir
Canonical URL
http://hl7.org/fhir/genomicstudy-methodtype
ID
genomicstudy-methodtype
Version
5.0.0
Publisher
Clinical Genomics
Case Sensitive
Yes

Concepts (81)

CodeDisplayDefinition
biochemical-geneticsBiochemical Genetics-
cytogeneticsCytogenetics-
molecular-geneticsMolecular Genetics-
analyteAnalyte-
chromosome-breakage-studiesChromosome breakage studies-
deletion-duplication-analysisDeletion/duplication analysis-
detection-of-homozygosityDetection of homozygosity-
enzyme-assayEnzyme assay-
fish-interphaseFISH-interphase-
fish-metaphaseFISH-metaphase-
flow-cytometryFlow cytometry-
fishFluorescence in situ hybridization (FISH)-
immunohistochemistryImmunohistochemistry-
karyotypingKaryotyping-
linkage-analysisLinkage analysis-
methylation-analysisMethylation analysis-
msiMicrosatellite instability testing (MSI)-
m-fishMulticolor FISH (M-FISH)-
mutation-scanning-of-select-exonsMutation scanning of select exons-
mutation-scanning-of-the-entire-coding-regionMutation scanning of the entire coding region-
protein-analysisProtein analysis-
protein-expressionProtein expression-
rna-analysisRNA analysis-
sequence-analysis-of-select-exonsSequence analysis of select exons-
sequence-analysis-of-the-entire-coding-regionSequence analysis of the entire coding region-
sister-chromatid-exchangeSister chromatid exchange-
targeted-variant-analysisTargeted variant analysis-
udpUniparental disomy study (UPD)-
aspeAllele-specific primer extension (ASPE)-
alternative-splicing-detectionAlternative splicing detection-
bi-directional-sanger-sequence-analysisBi-directional Sanger Sequence Analysis-
c-bandingC-banding-
ciaChemiluminescent Immunoassay (CIA)-
chromatin-immunoprecipitation-on-chipChromatin Immunoprecipitation on ChIP-
comparative-genomic-hybridizationComparative Genomic Hybridization-
damidDamID-
digital-virtual-karyotypingDigital / Virtual karyotyping-
digital-microfluidic-microspheresDigital microfluidic microspheres-
enzymatic-levelsEnzymatic levels-
enzyme-activityEnzyme activity-
elisaEnzyme-Linked Immunosorbent Assays (ELISA)-
fluorometryFluorometry-
fusion-genes-microarraysFusion genes microarrays-
g-bandingG-banding-
gc-msGas chromatography–mass spectrometry (GC-MS)-
gene-expression-profilingGene expression profiling-
gene-idGeneID-
gold-nanoparticle-probe-technologyGold nanoparticle probe technology-
hplcHigh-performance liquid chromatography (HPLC)-
lc-msLiquid chromatography mass spectrometry (LC-MS)-
lc-ms-msLiquid chromatography-tandem mass spectrometry (LC-MS/MS)-
metabolite-levelsMetabolite levels-
methylation-specific-pcrMethylation-specific PCR-
microarrayMicroarray-
mlpaMultiplex Ligation-dependent Probe Amplification (MLPA)-
ngs-mpsNext-Generation (NGS)/Massively parallel sequencing (MPS)-
olaOligonucleotide Ligation Assay (OLA)-
oligonucleotide-hybridization-based-dna-sequencingOligonucleotide hybridization-based DNA sequencing-
otherOther-
pcrPCR-
pcr-with-allele-specific-hybridizationPCR with allele specific hybridization-
pcr-rflp-with-southern-hybridizationPCR-RFLP with Southern hybridization-
protein-truncation-testProtein truncation test-
pyrosequencingPyrosequencing-
q-bandingQ-banding-
qpcrQuantitative PCR (qPCR)-
r-bandingR-banding-
rflpRFLP-
rt-lampRT-LAMP-
rt-pcrRT-PCR-
rt-pcr-with-gel-analysisRT-PCR with gel analysis-
rt-qpcrRT-qPCR-
snp-detectionSNP Detection-
silver-stainingSilver staining-
skySpectral karyotyping (SKY)-
t-bandingT-banding-
ms-msTandem mass spectrometry (MS/MS)-
tetra-nucleotide-repeat-by-pcr-or-southern-blotTetra-nucleotide repeat by PCR or Southern Blot-
tiling-arraysTiling Arrays-
trinucleotide-repeat-by-pcr-or-southern-blotTrinucleotide repeat by PCR or Southern Blot-
uni-directional-sanger-sequencingUni-directional Sanger sequencing-