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TX: CodeSystem genomicstudy-methodtype

Properties

Profile http://hl7.org/fhir/StructureDefinition/shareablecodesystem
Defining URL http://hl7.org/fhir/genomicstudy-methodtype
Version 5.0.0
Name GenomicStudyMethodType
Title Genomic Study Method Type
Status active
Definition

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

Publisher HL7 (FHIR Project)
Committee cg
EXT_FMM_LEVEL 1
Value Set Genomic Study Method Type

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

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