{"caseSensitive":true,"concept":[{"code":"biochemical-genetics","display":"Biochemical Genetics"},{"code":"cytogenetics","display":"Cytogenetics"},{"code":"molecular-genetics","display":"Molecular Genetics"},{"code":"analyte","display":"Analyte"},{"code":"chromosome-breakage-studies","display":"Chromosome breakage studies"},{"code":"deletion-duplication-analysis","display":"Deletion/duplication analysis"},{"code":"detection-of-homozygosity","display":"Detection of homozygosity"},{"code":"enzyme-assay","display":"Enzyme assay"},{"code":"fish-interphase","display":"FISH-interphase"},{"code":"fish-metaphase","display":"FISH-metaphase"},{"code":"flow-cytometry","display":"Flow cytometry"},{"code":"fish","display":"Fluorescence in situ hybridization (FISH)"},{"code":"immunohistochemistry","display":"Immunohistochemistry"},{"code":"karyotyping","display":"Karyotyping"},{"code":"linkage-analysis","display":"Linkage analysis"},{"code":"methylation-analysis","display":"Methylation analysis"},{"code":"msi","display":"Microsatellite instability testing (MSI)"},{"code":"m-fish","display":"Multicolor FISH (M-FISH)"},{"code":"mutation-scanning-of-select-exons","display":"Mutation scanning of select exons"},{"code":"mutation-scanning-of-the-entire-coding-region","display":"Mutation scanning of the entire coding region"},{"code":"protein-analysis","display":"Protein analysis"},{"code":"protein-expression","display":"Protein expression"},{"code":"rna-analysis","display":"RNA analysis"},{"code":"sequence-analysis-of-select-exons","display":"Sequence analysis of select exons"},{"code":"sequence-analysis-of-the-entire-coding-region","display":"Sequence analysis of the entire coding region"},{"code":"sister-chromatid-exchange","display":"Sister chromatid exchange"},{"code":"targeted-variant-analysis","display":"Targeted variant analysis"},{"code":"udp","display":"Uniparental disomy study (UPD)"},{"code":"aspe","display":"Allele-specific primer extension (ASPE)"},{"code":"alternative-splicing-detection","display":"Alternative splicing detection"},{"code":"bi-directional-sanger-sequence-analysis","display":"Bi-directional Sanger Sequence Analysis"},{"code":"c-banding","display":"C-banding"},{"code":"cia","display":"Chemiluminescent Immunoassay (CIA)"},{"code":"chromatin-immunoprecipitation-on-chip","display":"Chromatin Immunoprecipitation on ChIP"},{"code":"comparative-genomic-hybridization","display":"Comparative Genomic Hybridization"},{"code":"damid","display":"DamID"},{"code":"digital-virtual-karyotyping","display":"Digital / Virtual karyotyping"},{"code":"digital-microfluidic-microspheres","display":"Digital microfluidic microspheres"},{"code":"enzymatic-levels","display":"Enzymatic levels"},{"code":"enzyme-activity","display":"Enzyme activity"},{"code":"elisa","display":"Enzyme-Linked Immunosorbent Assays (ELISA)"},{"code":"fluorometry","display":"Fluorometry"},{"code":"fusion-genes-microarrays","display":"Fusion genes microarrays"},{"code":"g-banding","display":"G-banding"},{"code":"gc-ms","display":"Gas chromatography–mass spectrometry (GC-MS)"},{"code":"gene-expression-profiling","display":"Gene expression profiling"},{"code":"gene-id","display":"GeneID"},{"code":"gold-nanoparticle-probe-technology","display":"Gold nanoparticle probe technology"},{"code":"hplc","display":"High-performance liquid chromatography (HPLC)"},{"code":"lc-ms","display":"Liquid chromatography mass spectrometry (LC-MS)"},{"code":"lc-ms-ms","display":"Liquid chromatography-tandem mass spectrometry (LC-MS/MS)"},{"code":"metabolite-levels","display":"Metabolite levels"},{"code":"methylation-specific-pcr","display":"Methylation-specific PCR"},{"code":"microarray","display":"Microarray"},{"code":"mlpa","display":"Multiplex Ligation-dependent Probe Amplification (MLPA)"},{"code":"ngs-mps","display":"Next-Generation (NGS)/Massively parallel sequencing (MPS)"},{"code":"ola","display":"Oligonucleotide Ligation Assay (OLA)"},{"code":"oligonucleotide-hybridization-based-dna-sequencing","display":"Oligonucleotide hybridization-based DNA sequencing"},{"code":"other","display":"Other"},{"code":"pcr","display":"PCR"},{"code":"pcr-with-allele-specific-hybridization","display":"PCR with allele specific hybridization"},{"code":"pcr-rflp-with-southern-hybridization","display":"PCR-RFLP with Southern hybridization"},{"code":"protein-truncation-test","display":"Protein truncation test"},{"code":"pyrosequencing","display":"Pyrosequencing"},{"code":"q-banding","display":"Q-banding"},{"code":"qpcr","display":"Quantitative PCR (qPCR)"},{"code":"r-banding","display":"R-banding"},{"code":"rflp","display":"RFLP"},{"code":"rt-lamp","display":"RT-LAMP"},{"code":"rt-pcr","display":"RT-PCR"},{"code":"rt-pcr-with-gel-analysis","display":"RT-PCR with gel analysis"},{"code":"rt-qpcr","display":"RT-qPCR"},{"code":"snp-detection","display":"SNP Detection"},{"code":"silver-staining","display":"Silver staining"},{"code":"sky","display":"Spectral karyotyping (SKY)"},{"code":"t-banding","display":"T-banding"},{"code":"ms-ms","display":"Tandem mass spectrometry (MS/MS)"},{"code":"tetra-nucleotide-repeat-by-pcr-or-southern-blot","display":"Tetra-nucleotide repeat by PCR or Southern Blot"},{"code":"tiling-arrays","display":"Tiling Arrays"},{"code":"trinucleotide-repeat-by-pcr-or-southern-blot","display":"Trinucleotide repeat by PCR or Southern Blot"},{"code":"uni-directional-sanger-sequencing","display":"Uni-directional Sanger sequencing"}],"contact":[{"telecom":[{"system":"url","value":"http://hl7.org/fhir"},{"system":"email","value":"fhir@lists.hl7.org"}]}],"content":"complete","date":"2022-08-16T16:49:24-05:00","description":"The method type of the GenomicStudy analysis. These method types and relevant codes were pulled from [National Library of Medicine-Genetic Testing Registry](https://www.ncbi.nlm.nih.gov/gtr/) (NCBI-GTR) values of describing different testing methods on various levels: [major method category](https://ftp.ncbi.nlm.nih.gov/pub/GTR/standard_terms/Major_method_category.txt), [method category](https://ftp.ncbi.nlm.nih.gov/pub/GTR/standard_terms/Method_category.txt), and [primary methodology](https://ftp.ncbi.nlm.nih.gov/pub/GTR/standard_terms/Primary_test_methodology.txt)","experimental":true,"extension":[{"url":"http://hl7.org/fhir/StructureDefinition/structuredefinition-wg","valueCode":"cg"},{"url":"http://hl7.org/fhir/StructureDefinition/structuredefinition-standards-status","valueCode":"trial-use"},{"url":"http://hl7.org/fhir/StructureDefinition/structuredefinition-fmm","valueInteger":1}],"id":"genomicstudy-methodtype","identifier":[{"system":"urn:ietf:rfc:3986","value":"urn:oid:2.16.840.1.113883.4.642.4.1979"}],"jurisdiction":[{"coding":[{"code":"001","display":"World","system":"http://unstats.un.org/unsd/methods/m49/m49.htm"}]}],"meta":{"lastUpdated":"2023-03-25T23:21:02-05:00","profile":["http://hl7.org/fhir/StructureDefinition/shareablecodesystem"]},"name":"GenomicStudyMethodType","publisher":"HL7 (FHIR Project)","resourceType":"CodeSystem","status":"active","text":{"div":"

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

CodeDisplay
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
","status":"generated"},"title":"Genomic Study Method Type","url":"http://hl7.org/fhir/genomicstudy-methodtype","valueSet":"http://hl7.org/fhir/ValueSet/genomicstudy-methodtype","version":"5.0.0"}