Release 5 Ballot

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

Clinical Genomics Work Group Maturity Level: 0Trial Use Use Context: Any

This is a code system defined by the FHIR project.

Summary

Defining URL:http://hl7.org/fhir/genomicstudy-methodtype
Version:5.0.0-ballot
Name:GenomicStudyMethodType
Title:GenomicStudyMethodType
Status:draft
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

Committee:Clinical Genomics Work Group
OID:2.16.840.1.113883.4.642.4.1979 (for OID based terminology systems)
Flags:CaseSensitive, Complete
All codes ValueSet:GenomicStudyMethodType

This Code system is used in the following value sets:

4.3.2.490.1 Content

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

CodeDisplayCopy
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 

 

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