This 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
<status value="active"/> <experimental value="true"/> <date value="2022-08-16T16:49:24-05:00"/> <publisher value="HL7 (FHIR Project)"/> <contact> <telecom> <system value="url"/> <value value="http://hl7.org/fhir"/> </telecom> <telecom> <system value="email"/> <value value="fhir@lists.hl7.org"/> </telecom> </contact> <description value="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)"/> <jurisdiction> <coding> <system value="http://unstats.un.org/unsd/methods/m49/m49.htm"/> <code value="001"/> <display value="World"/> </coding> </jurisdiction> <caseSensitive value="true"/> <valueSet value="http://hl7.org/fhir/ValueSet/genomicstudy-methodtype"/> <content value="complete"/> <concept> <code value="biochemical-genetics"/> <display value="Biochemical Genetics"/> </concept> <concept> <code value="cytogenetics"/> <display value="Cytogenetics"/> </concept> <concept> <code value="molecular-genetics"/> <display value="Molecular Genetics"/> </concept> <concept> <code value="analyte"/> <display value="Analyte"/> </concept> <concept> <code value="chromosome-breakage-studies"/> <display value="Chromosome breakage studies"/> </concept> <concept> <code value="deletion-duplication-analysis"/> <display value="Deletion/duplication analysis"/> </concept> <concept> <code value="detection-of-homozygosity"/> <display value="Detection of homozygosity"/> </concept> <concept> <code value="enzyme-assay"/> <display value="Enzyme assay"/> </concept> <concept> <code value="fish-interphase"/> <display value="FISH-interphase"/> </concept> <concept> <code value="fish-metaphase"/> <display value="FISH-metaphase"/> </concept> <concept> <code value="flow-cytometry"/> <display value="Flow cytometry"/> </concept> <concept> <code value="fish"/> <display value="Fluorescence in situ hybridization (FISH)"/> </concept> <concept> <code value="immunohistochemistry"/> <display value="Immunohistochemistry"/> </concept> <concept> <code value="karyotyping"/> <display value="Karyotyping"/> </concept> <concept> <code value="linkage-analysis"/> <display value="Linkage analysis"/> </concept> <concept> <code value="methylation-analysis"/> <display value="Methylation analysis"/> </concept> <concept> <code value="msi"/> <display value="Microsatellite instability testing (MSI)"/> </concept> <concept> <code value="m-fish"/> <display value="Multicolor FISH (M-FISH)"/> </concept> <concept> <code value="mutation-scanning-of-select-exons"/> <display value="Mutation scanning of select exons"/> </concept> <concept> <code value="mutation-scanning-of-the-entire-coding-region"/> <display value="Mutation scanning of the entire coding region"/> </concept> <concept> <code value="protein-analysis"/> <display value="Protein analysis"/> </concept> <concept> <code value="protein-expression"/> <display value="Protein expression"/> </concept> <concept> <code value="rna-analysis"/> <display value="RNA analysis"/> </concept> <concept> <code value="sequence-analysis-of-select-exons"/> <display value="Sequence analysis of select exons"/> </concept> <concept> <code value="sequence-analysis-of-the-entire-coding-region"/> <display value="Sequence analysis of the entire coding region"/> </concept> <concept> <code value="sister-chromatid-exchange"/> <display value="Sister chromatid exchange"/> </concept> <concept> <code value="targeted-variant-analysis"/> <display value="Targeted variant analysis"/> </concept> <concept> <code value="udp"/> <display value="Uniparental disomy study (UPD)"/> </concept> <concept> <code value="aspe"/> <display value="Allele-specific primer extension (ASPE)"/> </concept> <concept> <code value="alternative-splicing-detection"/> <display value="Alternative splicing detection"/> </concept> <concept> <code value="bi-directional-sanger-sequence-analysis"/> <display value="Bi-directional Sanger Sequence Analysis"/> </concept> <concept> <code value="c-banding"/> <display value="C-banding"/> </concept> <concept> <code value="cia"/> <display value="Chemiluminescent Immunoassay (CIA)"/> </concept> <concept> <code value="chromatin-immunoprecipitation-on-chip"/> <display value="Chromatin Immunoprecipitation on ChIP"/> </concept> <concept> <code value="comparative-genomic-hybridization"/> <display value="Comparative Genomic Hybridization"/> </concept> <concept> <code value="damid"/> <display value="DamID"/> </concept> <concept> <code value="digital-virtual-karyotyping"/> <display value="Digital / Virtual karyotyping"/> </concept> <concept> <code value="digital-microfluidic-microspheres"/> <display value="Digital microfluidic microspheres"/> </concept> <concept> <code value="enzymatic-levels"/> <display value="Enzymatic levels"/> </concept> <concept> <code value="enzyme-activity"/> <display value="Enzyme activity"/> </concept> <concept> <code value="elisa"/> <display value="Enzyme-Linked Immunosorbent Assays (ELISA)"/> </concept> <concept> <code value="fluorometry"/> <display value="Fluorometry"/> </concept> <concept> <code value="fusion-genes-microarrays"/> <display value="Fusion genes microarrays"/> </concept> <concept> <code value="g-banding"/> <display value="G-banding"/> </concept> <concept> <code value="gc-ms"/> <display value="Gas chromatography–mass spectrometry (GC-MS)"/> </concept> <concept> <code value="gene-expression-profiling"/> <display value="Gene expression profiling"/> </concept> <concept> <code value="gene-id"/> <display value="GeneID"/> </concept> <concept> <code value="gold-nanoparticle-probe-technology"/> <display value="Gold nanoparticle probe technology"/> </concept> <concept> <code value="hplc"/> <display value="High-performance liquid chromatography (HPLC)"/> </concept> <concept> <code value="lc-ms"/> <display value="Liquid chromatography mass spectrometry (LC-MS)"/> </concept> <concept> <code value="lc-ms-ms"/> <display value="Liquid chromatography-tandem mass spectrometry (LC-MS/MS)"/> </concept> <concept> <code value="metabolite-levels"/> <display value="Metabolite levels"/> </concept> <concept> <code value="methylation-specific-pcr"/> <display value="Methylation-specific PCR"/> </concept> <concept> <code value="microarray"/> <display value="Microarray"/> </concept> <concept> <code value="mlpa"/> <display value="Multiplex Ligation-dependent Probe Amplification (MLPA)"/> </concept> <concept> <code value="ngs-mps"/> <display value="Next-Generation (NGS)/Massively parallel sequencing (MPS)"/> </concept> <concept> <code value="ola"/> <display value="Oligonucleotide Ligation Assay (OLA)"/> </concept> <concept> <code value="oligonucleotide-hybridization-based-dna-sequencing"/> <display value="Oligonucleotide hybridization-based DNA sequencing"/> </concept> <concept> <code value="other"/> <display value="Other"/> </concept> <concept> <code value="pcr"/> <display value="PCR"/> </concept> <concept> <code value="pcr-with-allele-specific-hybridization"/> <display value="PCR with allele specific hybridization"/> </concept> <concept> <code value="pcr-rflp-with-southern-hybridization"/> <display value="PCR-RFLP with Southern hybridization"/> </concept> <concept> <code value="protein-truncation-test"/> <display value="Protein truncation test"/> </concept> <concept> <code value="pyrosequencing"/> <display value="Pyrosequencing"/> </concept> <concept> <code value="q-banding"/> <display value="Q-banding"/> </concept> <concept> <code value="qpcr"/> <display value="Quantitative PCR (qPCR)"/> </concept> <concept> <code value="r-banding"/> <display value="R-banding"/> </concept> <concept> <code value="rflp"/> <display value="RFLP"/> </concept> <concept> <code value="rt-lamp"/> <display value="RT-LAMP"/> </concept> <concept> <code value="rt-pcr"/> <display value="RT-PCR"/> </concept> <concept> <code value="rt-pcr-with-gel-analysis"/> <display value="RT-PCR with gel analysis"/> </concept> <concept> <code value="rt-qpcr"/> <display value="RT-qPCR"/> </concept> <concept> <code value="snp-detection"/> <display value="SNP Detection"/> </concept> <concept> <code value="silver-staining"/> <display value="Silver staining"/> </concept> <concept> <code value="sky"/> <display value="Spectral karyotyping (SKY)"/> </concept> <concept> <code value="t-banding"/> <display value="T-banding"/> </concept> <concept> <code value="ms-ms"/> <display value="Tandem mass spectrometry (MS/MS)"/> </concept> <concept> <code value="tetra-nucleotide-repeat-by-pcr-or-southern-blot"/> <display value="Tetra-nucleotide repeat by PCR or Southern Blot"/> </concept> <concept> <code value="tiling-arrays"/> <display value="Tiling Arrays"/> </concept> <concept> <code value="trinucleotide-repeat-by-pcr-or-southern-blot"/> <display value="Trinucleotide repeat by PCR or Southern Blot"/> </concept> <concept> <code value="uni-directional-sanger-sequencing"/> <display value="Uni-directional Sanger sequencing"/> </concept> </CodeSystem>