Genomics Reporting Implementation Guide
4.0.0-ballot - STU 4 ballot International flag

Genomics Reporting Implementation Guide, published by HL7 International / Clinical Genomics. This guide is not an authorized publication; it is the continuous build for version 4.0.0-ballot built by the FHIR (HL7® FHIR® Standard) CI Build. This version is based on the current content of https://github.com/HL7/genomics-reporting/ and changes regularly. See the Directory of published versions

CodeSystem: Genomic Study Method Type CodeSystem (Experimental)

Official URL: http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/genomic-study-method-type-cs Version: 4.0.0-ballot
Standards status: Informative Computable Name: GenomicStudyMethodTypeCS

Backport of http://hl7.org/fhir/genomicstudy-methodtype

This Code system is referenced in the content logical definition of the following value sets:

This case-sensitive code system http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/genomic-study-method-type-cs defines the following codes:

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