Genomic Study Method Type - TTL Representation - Clinical Genomics Resource Incubator v0.1.0-ci-build

Clinical Genomics Resource Incubator, published by HL7 International / Clinical Genomics. This guide is not an authorized publication; it is the continuous build for version 0.1.0-ci-build built by the FHIR (HL7® FHIR® Standard) CI Build. This version is based on the current content of https://github.com/HL7/cg-incubator/ and changes regularly. See the Directory of published versions
: Genomic Study Method Type

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@prefix fhir: <http://hl7.org/fhir/> .
@prefix owl: <http://www.w3.org/2002/07/owl#> .
@prefix rdf: <http://www.w3.org/1999/02/22-rdf-syntax-ns#> .
@prefix rdfs: <http://www.w3.org/2000/01/rdf-schema#> .
@prefix xsd: <http://www.w3.org/2001/XMLSchema#> .

# - resource -------------------------------------------------------------------

 a fhir:CodeSystem ;
  fhir:nodeRole fhir:treeRoot ;
  fhir:id [ fhir:v "genomicstudy-methodtype"] ; # 
  fhir:meta [
fhir:lastUpdated [ fhir:v "2022-08-16T16:49:24-05:00"^^xsd:dateTime ] ;
    ( fhir:profile [
fhir:v "http://hl7.org/fhir/StructureDefinition/shareablecodesystem"^^xsd:anyURI ;
fhir:l <http://hl7.org/fhir/StructureDefinition/shareablecodesystem>     ] )
  ] ; # 
  fhir:language [ fhir:v "en"] ; # 
  fhir:text [
fhir:status [ fhir:v "generated" ] ;
fhir:div [ fhir:v "<div xmlns=\"http://www.w3.org/1999/xhtml\"><p class=\"res-header-id\"><b>Generated Narrative: CodeSystem genomicstudy-methodtype</b></p><a name=\"genomicstudy-methodtype\"> </a><a name=\"hcgenomicstudy-methodtype\"> </a><div style=\"display: inline-block; background-color: #d9e0e7; padding: 6px; margin: 4px; border: 1px solid #8da1b4; border-radius: 5px; line-height: 60%\"><p style=\"margin-bottom: 0px\">Last updated: 2022-08-16 16:49:24-0500</p><p style=\"margin-bottom: 0px\">Profile: <a href=\"http://hl7.org/fhir/R5/shareablecodesystem.html\">Shareable CodeSystem</a></p></div><p>This case-sensitive code system <code>http://hl7.org/fhir/uv/cg-incubator/CodeSystem/genomicstudy-methodtype</code> defines the following codes:</p><table class=\"codes\"><tr><td style=\"white-space:nowrap\"><b>Code</b></td><td><b>Display</b></td><td><b>Definition</b></td></tr><tr><td style=\"white-space:nowrap\">biochemical-genetics<a name=\"genomicstudy-methodtype-biochemical-genetics\"> </a></td><td>Biochemical Genetics</td><td>Analysis of biochemical compounds and pathways to detect genetic metabolic disorders.</td></tr><tr><td style=\"white-space:nowrap\">cytogenetics<a name=\"genomicstudy-methodtype-cytogenetics\"> </a></td><td>Cytogenetics</td><td>Study of chromosome structure and number using microscopy-based methods.</td></tr><tr><td style=\"white-space:nowrap\">molecular-genetics<a name=\"genomicstudy-methodtype-molecular-genetics\"> </a></td><td>Molecular Genetics</td><td>Analysis of DNA and genes using molecular techniques to identify variations and mutations.</td></tr><tr><td style=\"white-space:nowrap\">analyte<a name=\"genomicstudy-methodtype-analyte\"> </a></td><td>Analyte</td><td>Analysis of biological analytes to detect genetic disorders.</td></tr><tr><td style=\"white-space:nowrap\">chromosome-breakage-studies<a name=\"genomicstudy-methodtype-chromosome-breakage-studies\"> </a></td><td>Chromosome breakage studies</td><td>Tests to assess chromosome stability and fragility, often used to detect DNA repair disorders.</td></tr><tr><td style=\"white-space:nowrap\">deletion-duplication-analysis<a name=\"genomicstudy-methodtype-deletion-duplication-analysis\"> </a></td><td>Deletion/duplication analysis</td><td>Detection of deletions and duplications in DNA sequences.</td></tr><tr><td style=\"white-space:nowrap\">detection-of-homozygosity<a name=\"genomicstudy-methodtype-detection-of-homozygosity\"> </a></td><td>Detection of homozygosity</td><td>Identification of homozygous regions in the genome.</td></tr><tr><td style=\"white-space:nowrap\">enzyme-assay<a name=\"genomicstudy-methodtype-enzyme-assay\"> </a></td><td>Enzyme assay</td><td>Measurement of enzyme activity to detect genetic metabolic disorders.</td></tr><tr><td style=\"white-space:nowrap\">fish-interphase<a name=\"genomicstudy-methodtype-fish-interphase\"> </a></td><td>FISH-interphase</td><td>Fluorescence in situ hybridization performed during interphase of the cell cycle.</td></tr><tr><td style=\"white-space:nowrap\">fish-metaphase<a name=\"genomicstudy-methodtype-fish-metaphase\"> </a></td><td>FISH-metaphase</td><td>Fluorescence in situ hybridization performed during metaphase of the cell cycle.</td></tr><tr><td style=\"white-space:nowrap\">flow-cytometry<a name=\"genomicstudy-methodtype-flow-cytometry\"> </a></td><td>Flow cytometry</td><td>Analysis of cells using flow cytometry to assess genetic disorders.</td></tr><tr><td style=\"white-space:nowrap\">fish<a name=\"genomicstudy-methodtype-fish\"> </a></td><td>Fluorescence in situ hybridization (FISH)</td><td>Visualization of specific DNA sequences using fluorescent probes.</td></tr><tr><td style=\"white-space:nowrap\">immunohistochemistry<a name=\"genomicstudy-methodtype-immunohistochemistry\"> </a></td><td>Immunohistochemistry</td><td>Detection of antigens in tissue samples using antibodies.</td></tr><tr><td style=\"white-space:nowrap\">karyotyping<a name=\"genomicstudy-methodtype-karyotyping\"> </a></td><td>Karyotyping</td><td>Visual analysis of chromosome structure and number in metaphase cells.</td></tr><tr><td style=\"white-space:nowrap\">linkage-analysis<a name=\"genomicstudy-methodtype-linkage-analysis\"> </a></td><td>Linkage analysis</td><td>Analysis of genetic markers to identify disease-associated variants in families.</td></tr><tr><td style=\"white-space:nowrap\">methylation-analysis<a name=\"genomicstudy-methodtype-methylation-analysis\"> </a></td><td>Methylation analysis</td><td>Detection of DNA methylation patterns to assess epigenetic modifications.</td></tr><tr><td style=\"white-space:nowrap\">msi<a name=\"genomicstudy-methodtype-msi\"> </a></td><td>Microsatellite instability testing (MSI)</td><td>Detection of microsatellite instability to assess DNA mismatch repair function.</td></tr><tr><td style=\"white-space:nowrap\">m-fish<a name=\"genomicstudy-methodtype-m-fish\"> </a></td><td>Multicolor FISH (M-FISH)</td><td>Multiple fluorescent in situ hybridization using multiple probes and colors simultaneously.</td></tr><tr><td style=\"white-space:nowrap\">mutation-scanning-of-select-exons<a name=\"genomicstudy-methodtype-mutation-scanning-of-select-exons\"> </a></td><td>Mutation scanning of select exons</td><td>Screening for mutations in specific exons of targeted genes.</td></tr><tr><td style=\"white-space:nowrap\">mutation-scanning-of-the-entire-coding-region<a name=\"genomicstudy-methodtype-mutation-scanning-of-the-entire-coding-region\"> </a></td><td>Mutation scanning of the entire coding region</td><td>Comprehensive screening for mutations throughout the entire coding region of a gene.</td></tr><tr><td style=\"white-space:nowrap\">protein-analysis<a name=\"genomicstudy-methodtype-protein-analysis\"> </a></td><td>Protein analysis</td><td>Analysis of protein structure and function to detect genetic disorders affecting protein.</td></tr><tr><td style=\"white-space:nowrap\">protein-expression<a name=\"genomicstudy-methodtype-protein-expression\"> </a></td><td>Protein expression</td><td>Measurement of protein expression levels to assess genetic effects on protein production.</td></tr><tr><td style=\"white-space:nowrap\">rna-analysis<a name=\"genomicstudy-methodtype-rna-analysis\"> </a></td><td>RNA analysis</td><td>Analysis of RNA sequences and expression to detect genetic disorders.</td></tr><tr><td style=\"white-space:nowrap\">sequence-analysis-of-select-exons<a name=\"genomicstudy-methodtype-sequence-analysis-of-select-exons\"> </a></td><td>Sequence analysis of select exons</td><td>DNA sequencing of specific exons to identify mutations.</td></tr><tr><td style=\"white-space:nowrap\">sequence-analysis-of-the-entire-coding-region<a name=\"genomicstudy-methodtype-sequence-analysis-of-the-entire-coding-region\"> </a></td><td>Sequence analysis of the entire coding region</td><td>Comprehensive DNA sequencing of the entire coding region of a gene.</td></tr><tr><td style=\"white-space:nowrap\">sister-chromatid-exchange<a name=\"genomicstudy-methodtype-sister-chromatid-exchange\"> </a></td><td>Sister chromatid exchange</td><td>Assessment of sister chromatid exchange as an indicator of DNA damage and repair.</td></tr><tr><td style=\"white-space:nowrap\">targeted-variant-analysis<a name=\"genomicstudy-methodtype-targeted-variant-analysis\"> </a></td><td>Targeted variant analysis</td><td>Sequencing or genotyping of specific, pre-selected genetic variants.</td></tr><tr><td style=\"white-space:nowrap\">udp<a name=\"genomicstudy-methodtype-udp\"> </a></td><td>Uniparental disomy study (UPD)</td><td>Detection of regions where both chromosomes are inherited from a single parent.</td></tr><tr><td style=\"white-space:nowrap\">aspe<a name=\"genomicstudy-methodtype-aspe\"> </a></td><td>Allele-specific primer extension (ASPE)</td><td>Genotyping method using allele-specific primers to identify genetic variants.</td></tr><tr><td style=\"white-space:nowrap\">alternative-splicing-detection<a name=\"genomicstudy-methodtype-alternative-splicing-detection\"> </a></td><td>Alternative splicing detection</td><td>Detection and analysis of alternative splicing patterns in RNA.</td></tr><tr><td style=\"white-space:nowrap\">bi-directional-sanger-sequence-analysis<a name=\"genomicstudy-methodtype-bi-directional-sanger-sequence-analysis\"> </a></td><td>Bi-directional Sanger Sequence Analysis</td><td>DNA sequencing using Sanger method in both forward and reverse directions.</td></tr><tr><td style=\"white-space:nowrap\">c-banding<a name=\"genomicstudy-methodtype-c-banding\"> </a></td><td>C-banding</td><td>Chromosome banding technique visualizing constitutive heterochromatin.</td></tr><tr><td style=\"white-space:nowrap\">cia<a name=\"genomicstudy-methodtype-cia\"> </a></td><td>Chemiluminescent Immunoassay (CIA)</td><td>Immunoassay detecting antigens using chemiluminescent reaction.</td></tr><tr><td style=\"white-space:nowrap\">chromatin-immunoprecipitation-on-chip<a name=\"genomicstudy-methodtype-chromatin-immunoprecipitation-on-chip\"> </a></td><td>Chromatin Immunoprecipitation on ChIP</td><td>ChIP-on-chip analysis combining chromatin immunoprecipitation with microarray.</td></tr><tr><td style=\"white-space:nowrap\">comparative-genomic-hybridization<a name=\"genomicstudy-methodtype-comparative-genomic-hybridization\"> </a></td><td>Comparative Genomic Hybridization</td><td>Detection of copy number variations by comparison of test and control DNA.</td></tr><tr><td style=\"white-space:nowrap\">damid<a name=\"genomicstudy-methodtype-damid\"> </a></td><td>DamID</td><td>DNA Adenine Methyltransferase Identification for mapping protein-DNA interactions.</td></tr><tr><td style=\"white-space:nowrap\">digital-virtual-karyotyping<a name=\"genomicstudy-methodtype-digital-virtual-karyotyping\"> </a></td><td>Digital / Virtual karyotyping</td><td>Computer-based analysis of chromosome patterns and abnormalities.</td></tr><tr><td style=\"white-space:nowrap\">digital-microfluidic-microspheres<a name=\"genomicstudy-methodtype-digital-microfluidic-microspheres\"> </a></td><td>Digital microfluidic microspheres</td><td>Microfluidic technology using digital control for genetic analysis.</td></tr><tr><td style=\"white-space:nowrap\">enzymatic-levels<a name=\"genomicstudy-methodtype-enzymatic-levels\"> </a></td><td>Enzymatic levels</td><td>Measurement of enzyme levels in biological samples.</td></tr><tr><td style=\"white-space:nowrap\">enzyme-activity<a name=\"genomicstudy-methodtype-enzyme-activity\"> </a></td><td>Enzyme activity</td><td>Measurement of enzyme activity levels in biological samples.</td></tr><tr><td style=\"white-space:nowrap\">elisa<a name=\"genomicstudy-methodtype-elisa\"> </a></td><td>Enzyme-Linked Immunosorbent Assays (ELISA)</td><td>Immunoassay for detecting antigens using enzyme-linked antibodies.</td></tr><tr><td style=\"white-space:nowrap\">fluorometry<a name=\"genomicstudy-methodtype-fluorometry\"> </a></td><td>Fluorometry</td><td>Measurement of fluorescence intensity to quantify biological molecules.</td></tr><tr><td style=\"white-space:nowrap\">fusion-genes-microarrays<a name=\"genomicstudy-methodtype-fusion-genes-microarrays\"> </a></td><td>Fusion genes microarrays</td><td>Microarray-based detection of gene fusion events.</td></tr><tr><td style=\"white-space:nowrap\">g-banding<a name=\"genomicstudy-methodtype-g-banding\"> </a></td><td>G-banding</td><td>Giemsa staining chromosome banding technique visualizing chromosome structure.</td></tr><tr><td style=\"white-space:nowrap\">gc-ms<a name=\"genomicstudy-methodtype-gc-ms\"> </a></td><td>Gas chromatography mass spectrometry (GC-MS)</td><td>Technique combining gas chromatography with mass spectrometry for chemical compound separation and identification.</td></tr><tr><td style=\"white-space:nowrap\">gene-expression-profiling<a name=\"genomicstudy-methodtype-gene-expression-profiling\"> </a></td><td>Gene expression profiling</td><td>Analysis of gene expression patterns using various molecular techniques.</td></tr><tr><td style=\"white-space:nowrap\">gene-id<a name=\"genomicstudy-methodtype-gene-id\"> </a></td><td>GeneID</td><td>Identification of genes through sequence comparison or database lookup.</td></tr><tr><td style=\"white-space:nowrap\">gold-nanoparticle-probe-technology<a name=\"genomicstudy-methodtype-gold-nanoparticle-probe-technology\"> </a></td><td>Gold nanoparticle probe technology</td><td>Molecular detection technique using gold nanoparticles as probes.</td></tr><tr><td style=\"white-space:nowrap\">hplc<a name=\"genomicstudy-methodtype-hplc\"> </a></td><td>High-performance liquid chromatography (HPLC)</td><td>Separation and analysis technique using high-pressure liquid chromatography.</td></tr><tr><td style=\"white-space:nowrap\">lc-ms<a name=\"genomicstudy-methodtype-lc-ms\"> </a></td><td>Liquid chromatography mass spectrometry (LC-MS)</td><td>Combined technique using liquid chromatography followed by mass spectrometry.</td></tr><tr><td style=\"white-space:nowrap\">lc-ms-ms<a name=\"genomicstudy-methodtype-lc-ms-ms\"> </a></td><td>Liquid chromatography-tandem mass spectrometry (LC-MS/MS)</td><td>Laboratory technique using liquid chromatography with tandem mass spectrometry.</td></tr><tr><td style=\"white-space:nowrap\">metabolite-levels<a name=\"genomicstudy-methodtype-metabolite-levels\"> </a></td><td>Metabolite levels</td><td>Measurement of metabolite concentrations in biological samples.</td></tr><tr><td style=\"white-space:nowrap\">methylation-specific-pcr<a name=\"genomicstudy-methodtype-methylation-specific-pcr\"> </a></td><td>Methylation-specific PCR</td><td>PCR-based technique detecting DNA methylation patterns at specific loci.</td></tr><tr><td style=\"white-space:nowrap\">microarray<a name=\"genomicstudy-methodtype-microarray\"> </a></td><td>Microarray</td><td>Molecular technique using arrays of probes to detect DNA sequences or expression levels.</td></tr><tr><td style=\"white-space:nowrap\">mlpa<a name=\"genomicstudy-methodtype-mlpa\"> </a></td><td>Multiplex Ligation-dependent Probe Amplification (MLPA)</td><td>Technique for detecting copy number variations and point mutations.</td></tr><tr><td style=\"white-space:nowrap\">ngs-mps<a name=\"genomicstudy-methodtype-ngs-mps\"> </a></td><td>Next-Generation (NGS)/Massively parallel sequencing (MPS)</td><td>High-throughput sequencing technology for analyzing genetic variation.</td></tr><tr><td style=\"white-space:nowrap\">ola<a name=\"genomicstudy-methodtype-ola\"> </a></td><td>Oligonucleotide Ligation Assay (OLA)</td><td>DNA sequence detection method using complementary oligonucleotide ligation.</td></tr><tr><td style=\"white-space:nowrap\">oligonucleotide-hybridization-based-dna-sequencing<a name=\"genomicstudy-methodtype-oligonucleotide-hybridization-based-dna-sequencing\"> </a></td><td>Oligonucleotide hybridization-based DNA sequencing</td><td>DNA sequencing using hybridization with oligonucleotide probes.</td></tr><tr><td style=\"white-space:nowrap\">other<a name=\"genomicstudy-methodtype-other\"> </a></td><td>Other</td><td>Other genetic testing method not listed in this code system.</td></tr><tr><td style=\"white-space:nowrap\">pcr<a name=\"genomicstudy-methodtype-pcr\"> </a></td><td>PCR</td><td>Polymerase Chain Reaction for amplifying and detecting DNA sequences.</td></tr><tr><td style=\"white-space:nowrap\">pcr-with-allele-specific-hybridization<a name=\"genomicstudy-methodtype-pcr-with-allele-specific-hybridization\"> </a></td><td>PCR with allele specific hybridization</td><td>PCR technique combined with allele-specific probe hybridization for variant detection.</td></tr><tr><td style=\"white-space:nowrap\">pcr-rflp-with-southern-hybridization<a name=\"genomicstudy-methodtype-pcr-rflp-with-southern-hybridization\"> </a></td><td>PCR-RFLP with Southern hybridization</td><td>Combination of PCR-RFLP and Southern blot analysis for genetic variation detection.</td></tr><tr><td style=\"white-space:nowrap\">protein-truncation-test<a name=\"genomicstudy-methodtype-protein-truncation-test\"> </a></td><td>Protein truncation test</td><td>Molecular technique detecting premature stop codons and truncated proteins.</td></tr><tr><td style=\"white-space:nowrap\">pyrosequencing<a name=\"genomicstudy-methodtype-pyrosequencing\"> </a></td><td>Pyrosequencing</td><td>DNA sequencing method based on detection of pyrophosphate release during nucleotide incorporation.</td></tr><tr><td style=\"white-space:nowrap\">q-banding<a name=\"genomicstudy-methodtype-q-banding\"> </a></td><td>Q-banding</td><td>Quinacrine staining chromosome banding technique using fluorescent dye.</td></tr><tr><td style=\"white-space:nowrap\">qpcr<a name=\"genomicstudy-methodtype-qpcr\"> </a></td><td>Quantitative PCR (qPCR)</td><td>Real-time PCR technique for quantifying DNA or RNA sequences.</td></tr><tr><td style=\"white-space:nowrap\">r-banding<a name=\"genomicstudy-methodtype-r-banding\"> </a></td><td>R-banding</td><td>Reverse chromosome banding technique visualizing reverse of normal G-banding pattern.</td></tr><tr><td style=\"white-space:nowrap\">rflp<a name=\"genomicstudy-methodtype-rflp\"> </a></td><td>RFLP</td><td>Restriction Fragment Length Polymorphism - technique detecting DNA variations via restriction mapping.</td></tr><tr><td style=\"white-space:nowrap\">rt-lamp<a name=\"genomicstudy-methodtype-rt-lamp\"> </a></td><td>RT-LAMP</td><td>Reverse transcription Loop-mediated Isothermal Amplification for RNA detection.</td></tr><tr><td style=\"white-space:nowrap\">rt-pcr<a name=\"genomicstudy-methodtype-rt-pcr\"> </a></td><td>RT-PCR</td><td>Reverse transcription PCR for detecting and amplifying RNA sequences.</td></tr><tr><td style=\"white-space:nowrap\">rt-pcr-with-gel-analysis<a name=\"genomicstudy-methodtype-rt-pcr-with-gel-analysis\"> </a></td><td>RT-PCR with gel analysis</td><td>RT-PCR product analysis using gel electrophoresis for visualization and sizing.</td></tr><tr><td style=\"white-space:nowrap\">rt-qpcr<a name=\"genomicstudy-methodtype-rt-qpcr\"> </a></td><td>RT-qPCR</td><td>Real-time reverse transcription PCR for quantitative RNA detection.</td></tr><tr><td style=\"white-space:nowrap\">snp-detection<a name=\"genomicstudy-methodtype-snp-detection\"> </a></td><td>SNP Detection</td><td>Detection of single nucleotide polymorphisms through molecular testing.</td></tr><tr><td style=\"white-space:nowrap\">silver-staining<a name=\"genomicstudy-methodtype-silver-staining\"> </a></td><td>Silver staining</td><td>Staining technique used in protein and DNA analysis for visualization.</td></tr><tr><td style=\"white-space:nowrap\">sky<a name=\"genomicstudy-methodtype-sky\"> </a></td><td>Spectral karyotyping (SKY)</td><td>Fluorescence in situ hybridization allowing simultaneous visualization of all chromosomes.</td></tr><tr><td style=\"white-space:nowrap\">t-banding<a name=\"genomicstudy-methodtype-t-banding\"> </a></td><td>T-banding</td><td>T-banding chromosome technique visualizing telomeres through staining.</td></tr><tr><td style=\"white-space:nowrap\">ms-ms<a name=\"genomicstudy-methodtype-ms-ms\"> </a></td><td>Tandem mass spectrometry (MS/MS)</td><td>Tandem mass spectrometry technique for analyzing molecular structure and mass.</td></tr><tr><td style=\"white-space:nowrap\">tetra-nucleotide-repeat-by-pcr-or-southern-blot<a name=\"genomicstudy-methodtype-tetra-nucleotide-repeat-by-pcr-or-southern-blot\"> </a></td><td>Tetra-nucleotide repeat by PCR or Southern Blot</td><td>Detection of tetra-nucleotide repeat expansions using PCR or Southern blot analysis.</td></tr><tr><td style=\"white-space:nowrap\">tiling-arrays<a name=\"genomicstudy-methodtype-tiling-arrays\"> </a></td><td>Tiling Arrays</td><td>Microarray technology using overlapping probes to analyze genomic regions.</td></tr><tr><td style=\"white-space:nowrap\">trinucleotide-repeat-by-pcr-or-southern-blot<a name=\"genomicstudy-methodtype-trinucleotide-repeat-by-pcr-or-southern-blot\"> </a></td><td>Trinucleotide repeat by PCR or Southern Blot</td><td>Detection of trinucleotide repeat expansions using PCR or Southern blot analysis.</td></tr><tr><td style=\"white-space:nowrap\">uni-directional-sanger-sequencing<a name=\"genomicstudy-methodtype-uni-directional-sanger-sequencing\"> </a></td><td>Uni-directional Sanger sequencing</td><td>One-directional Sanger sequencing method for DNA sequence determination.</td></tr></table></div>"^^rdf:XMLLiteral ]
  ] ; # 
  fhir:extension ( [
fhir:url [
fhir:v "http://hl7.org/fhir/StructureDefinition/structuredefinition-wg"^^xsd:anyURI ;
fhir:l <http://hl7.org/fhir/StructureDefinition/structuredefinition-wg>     ] ;
fhir:value [
a fhir:Code ;
fhir:v "cg"     ]
  ] [
fhir:url [
fhir:v "http://hl7.org/fhir/StructureDefinition/structuredefinition-standards-status"^^xsd:anyURI ;
fhir:l <http://hl7.org/fhir/StructureDefinition/structuredefinition-standards-status>     ] ;
fhir:value [
a fhir:Code ;
fhir:v "draft"     ]
  ] [
fhir:url [
fhir:v "http://hl7.org/fhir/StructureDefinition/structuredefinition-fmm"^^xsd:anyURI ;
fhir:l <http://hl7.org/fhir/StructureDefinition/structuredefinition-fmm>     ] ;
fhir:value [
a fhir:Integer ;
fhir:v 1     ]
  ] ) ; # 
  fhir:url [
fhir:v "http://hl7.org/fhir/uv/cg-incubator/CodeSystem/genomicstudy-methodtype"^^xsd:anyURI ;
fhir:l <http://hl7.org/fhir/uv/cg-incubator/CodeSystem/genomicstudy-methodtype>
  ] ; # 
  fhir:identifier ( [
fhir:system [
fhir:v "urn:ietf:rfc:3986"^^xsd:anyURI ;
fhir:l <urn:ietf:rfc:3986>     ] ;
fhir:value [ fhir:v "urn:oid:2.16.840.1.113883.4.642.4.1979" ]
  ] ) ; # 
  fhir:version [ fhir:v "0.1.0-ci-build"] ; # 
  fhir:name [ fhir:v "GenomicStudyMethodType"] ; # 
  fhir:title [ fhir:v "Genomic Study Method Type"] ; # 
  fhir:status [ fhir:v "draft"] ; # 
  fhir:experimental [ fhir:v true] ; # 
  fhir:date [ fhir:v "2022-08-16T16:49:24-05:00"^^xsd:dateTime] ; # 
  fhir:publisher [ fhir:v "HL7 International / Clinical Genomics"] ; # 
  fhir:contact ( [
fhir:name [ fhir:v "HL7 International / Clinical Genomics" ] ;
    ( fhir:telecom [
fhir:system [ fhir:v "url" ] ;
fhir:value [ fhir:v "http://www.hl7.org/Special/committees/clingenomics" ]     ] [
fhir:system [ fhir:v "email" ] ;
fhir:value [ fhir:v "clingenomics@lists.hl7.org" ]     ] )
  ] ) ; # 
  fhir:description [ fhir:v "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)"] ; # 
  fhir:jurisdiction ( [
    ( fhir:coding [
fhir:system [
fhir:v "http://unstats.un.org/unsd/methods/m49/m49.htm"^^xsd:anyURI ;
fhir:l <http://unstats.un.org/unsd/methods/m49/m49.htm>       ] ;
fhir:code [ fhir:v "001" ] ;
fhir:display [ fhir:v "World" ]     ] )
  ] ) ; # 
  fhir:caseSensitive [ fhir:v true] ; # 
  fhir:valueSet [
fhir:v "http://hl7.org/fhir/uv/cg-incubator/ValueSet/genomicstudy-methodtype"^^xsd:anyURI ;
fhir:l <http://hl7.org/fhir/uv/cg-incubator/ValueSet/genomicstudy-methodtype>
  ] ; # 
  fhir:content [ fhir:v "complete"] ; # 
  fhir:concept ( [
fhir:code [ fhir:v "biochemical-genetics" ] ;
fhir:display [ fhir:v "Biochemical Genetics" ] ;
fhir:definition [ fhir:v "Analysis of biochemical compounds and pathways to detect genetic metabolic disorders." ]
  ] [
fhir:code [ fhir:v "cytogenetics" ] ;
fhir:display [ fhir:v "Cytogenetics" ] ;
fhir:definition [ fhir:v "Study of chromosome structure and number using microscopy-based methods." ]
  ] [
fhir:code [ fhir:v "molecular-genetics" ] ;
fhir:display [ fhir:v "Molecular Genetics" ] ;
fhir:definition [ fhir:v "Analysis of DNA and genes using molecular techniques to identify variations and mutations." ]
  ] [
fhir:code [ fhir:v "analyte" ] ;
fhir:display [ fhir:v "Analyte" ] ;
fhir:definition [ fhir:v "Analysis of biological analytes to detect genetic disorders." ]
  ] [
fhir:code [ fhir:v "chromosome-breakage-studies" ] ;
fhir:display [ fhir:v "Chromosome breakage studies" ] ;
fhir:definition [ fhir:v "Tests to assess chromosome stability and fragility, often used to detect DNA repair disorders." ]
  ] [
fhir:code [ fhir:v "deletion-duplication-analysis" ] ;
fhir:display [ fhir:v "Deletion/duplication analysis" ] ;
fhir:definition [ fhir:v "Detection of deletions and duplications in DNA sequences." ]
  ] [
fhir:code [ fhir:v "detection-of-homozygosity" ] ;
fhir:display [ fhir:v "Detection of homozygosity" ] ;
fhir:definition [ fhir:v "Identification of homozygous regions in the genome." ]
  ] [
fhir:code [ fhir:v "enzyme-assay" ] ;
fhir:display [ fhir:v "Enzyme assay" ] ;
fhir:definition [ fhir:v "Measurement of enzyme activity to detect genetic metabolic disorders." ]
  ] [
fhir:code [ fhir:v "fish-interphase" ] ;
fhir:display [ fhir:v "FISH-interphase" ] ;
fhir:definition [ fhir:v "Fluorescence in situ hybridization performed during interphase of the cell cycle." ]
  ] [
fhir:code [ fhir:v "fish-metaphase" ] ;
fhir:display [ fhir:v "FISH-metaphase" ] ;
fhir:definition [ fhir:v "Fluorescence in situ hybridization performed during metaphase of the cell cycle." ]
  ] [
fhir:code [ fhir:v "flow-cytometry" ] ;
fhir:display [ fhir:v "Flow cytometry" ] ;
fhir:definition [ fhir:v "Analysis of cells using flow cytometry to assess genetic disorders." ]
  ] [
fhir:code [ fhir:v "fish" ] ;
fhir:display [ fhir:v "Fluorescence in situ hybridization (FISH)" ] ;
fhir:definition [ fhir:v "Visualization of specific DNA sequences using fluorescent probes." ]
  ] [
fhir:code [ fhir:v "immunohistochemistry" ] ;
fhir:display [ fhir:v "Immunohistochemistry" ] ;
fhir:definition [ fhir:v "Detection of antigens in tissue samples using antibodies." ]
  ] [
fhir:code [ fhir:v "karyotyping" ] ;
fhir:display [ fhir:v "Karyotyping" ] ;
fhir:definition [ fhir:v "Visual analysis of chromosome structure and number in metaphase cells." ]
  ] [
fhir:code [ fhir:v "linkage-analysis" ] ;
fhir:display [ fhir:v "Linkage analysis" ] ;
fhir:definition [ fhir:v "Analysis of genetic markers to identify disease-associated variants in families." ]
  ] [
fhir:code [ fhir:v "methylation-analysis" ] ;
fhir:display [ fhir:v "Methylation analysis" ] ;
fhir:definition [ fhir:v "Detection of DNA methylation patterns to assess epigenetic modifications." ]
  ] [
fhir:code [ fhir:v "msi" ] ;
fhir:display [ fhir:v "Microsatellite instability testing (MSI)" ] ;
fhir:definition [ fhir:v "Detection of microsatellite instability to assess DNA mismatch repair function." ]
  ] [
fhir:code [ fhir:v "m-fish" ] ;
fhir:display [ fhir:v "Multicolor FISH (M-FISH)" ] ;
fhir:definition [ fhir:v "Multiple fluorescent in situ hybridization using multiple probes and colors simultaneously." ]
  ] [
fhir:code [ fhir:v "mutation-scanning-of-select-exons" ] ;
fhir:display [ fhir:v "Mutation scanning of select exons" ] ;
fhir:definition [ fhir:v "Screening for mutations in specific exons of targeted genes." ]
  ] [
fhir:code [ fhir:v "mutation-scanning-of-the-entire-coding-region" ] ;
fhir:display [ fhir:v "Mutation scanning of the entire coding region" ] ;
fhir:definition [ fhir:v "Comprehensive screening for mutations throughout the entire coding region of a gene." ]
  ] [
fhir:code [ fhir:v "protein-analysis" ] ;
fhir:display [ fhir:v "Protein analysis" ] ;
fhir:definition [ fhir:v "Analysis of protein structure and function to detect genetic disorders affecting protein." ]
  ] [
fhir:code [ fhir:v "protein-expression" ] ;
fhir:display [ fhir:v "Protein expression" ] ;
fhir:definition [ fhir:v "Measurement of protein expression levels to assess genetic effects on protein production." ]
  ] [
fhir:code [ fhir:v "rna-analysis" ] ;
fhir:display [ fhir:v "RNA analysis" ] ;
fhir:definition [ fhir:v "Analysis of RNA sequences and expression to detect genetic disorders." ]
  ] [
fhir:code [ fhir:v "sequence-analysis-of-select-exons" ] ;
fhir:display [ fhir:v "Sequence analysis of select exons" ] ;
fhir:definition [ fhir:v "DNA sequencing of specific exons to identify mutations." ]
  ] [
fhir:code [ fhir:v "sequence-analysis-of-the-entire-coding-region" ] ;
fhir:display [ fhir:v "Sequence analysis of the entire coding region" ] ;
fhir:definition [ fhir:v "Comprehensive DNA sequencing of the entire coding region of a gene." ]
  ] [
fhir:code [ fhir:v "sister-chromatid-exchange" ] ;
fhir:display [ fhir:v "Sister chromatid exchange" ] ;
fhir:definition [ fhir:v "Assessment of sister chromatid exchange as an indicator of DNA damage and repair." ]
  ] [
fhir:code [ fhir:v "targeted-variant-analysis" ] ;
fhir:display [ fhir:v "Targeted variant analysis" ] ;
fhir:definition [ fhir:v "Sequencing or genotyping of specific, pre-selected genetic variants." ]
  ] [
fhir:code [ fhir:v "udp" ] ;
fhir:display [ fhir:v "Uniparental disomy study (UPD)" ] ;
fhir:definition [ fhir:v "Detection of regions where both chromosomes are inherited from a single parent." ]
  ] [
fhir:code [ fhir:v "aspe" ] ;
fhir:display [ fhir:v "Allele-specific primer extension (ASPE)" ] ;
fhir:definition [ fhir:v "Genotyping method using allele-specific primers to identify genetic variants." ]
  ] [
fhir:code [ fhir:v "alternative-splicing-detection" ] ;
fhir:display [ fhir:v "Alternative splicing detection" ] ;
fhir:definition [ fhir:v "Detection and analysis of alternative splicing patterns in RNA." ]
  ] [
fhir:code [ fhir:v "bi-directional-sanger-sequence-analysis" ] ;
fhir:display [ fhir:v "Bi-directional Sanger Sequence Analysis" ] ;
fhir:definition [ fhir:v "DNA sequencing using Sanger method in both forward and reverse directions." ]
  ] [
fhir:code [ fhir:v "c-banding" ] ;
fhir:display [ fhir:v "C-banding" ] ;
fhir:definition [ fhir:v "Chromosome banding technique visualizing constitutive heterochromatin." ]
  ] [
fhir:code [ fhir:v "cia" ] ;
fhir:display [ fhir:v "Chemiluminescent Immunoassay (CIA)" ] ;
fhir:definition [ fhir:v "Immunoassay detecting antigens using chemiluminescent reaction." ]
  ] [
fhir:code [ fhir:v "chromatin-immunoprecipitation-on-chip" ] ;
fhir:display [ fhir:v "Chromatin Immunoprecipitation on ChIP" ] ;
fhir:definition [ fhir:v "ChIP-on-chip analysis combining chromatin immunoprecipitation with microarray." ]
  ] [
fhir:code [ fhir:v "comparative-genomic-hybridization" ] ;
fhir:display [ fhir:v "Comparative Genomic Hybridization" ] ;
fhir:definition [ fhir:v "Detection of copy number variations by comparison of test and control DNA." ]
  ] [
fhir:code [ fhir:v "damid" ] ;
fhir:display [ fhir:v "DamID" ] ;
fhir:definition [ fhir:v "DNA Adenine Methyltransferase Identification for mapping protein-DNA interactions." ]
  ] [
fhir:code [ fhir:v "digital-virtual-karyotyping" ] ;
fhir:display [ fhir:v "Digital / Virtual karyotyping" ] ;
fhir:definition [ fhir:v "Computer-based analysis of chromosome patterns and abnormalities." ]
  ] [
fhir:code [ fhir:v "digital-microfluidic-microspheres" ] ;
fhir:display [ fhir:v "Digital microfluidic microspheres" ] ;
fhir:definition [ fhir:v "Microfluidic technology using digital control for genetic analysis." ]
  ] [
fhir:code [ fhir:v "enzymatic-levels" ] ;
fhir:display [ fhir:v "Enzymatic levels" ] ;
fhir:definition [ fhir:v "Measurement of enzyme levels in biological samples." ]
  ] [
fhir:code [ fhir:v "enzyme-activity" ] ;
fhir:display [ fhir:v "Enzyme activity" ] ;
fhir:definition [ fhir:v "Measurement of enzyme activity levels in biological samples." ]
  ] [
fhir:code [ fhir:v "elisa" ] ;
fhir:display [ fhir:v "Enzyme-Linked Immunosorbent Assays (ELISA)" ] ;
fhir:definition [ fhir:v "Immunoassay for detecting antigens using enzyme-linked antibodies." ]
  ] [
fhir:code [ fhir:v "fluorometry" ] ;
fhir:display [ fhir:v "Fluorometry" ] ;
fhir:definition [ fhir:v "Measurement of fluorescence intensity to quantify biological molecules." ]
  ] [
fhir:code [ fhir:v "fusion-genes-microarrays" ] ;
fhir:display [ fhir:v "Fusion genes microarrays" ] ;
fhir:definition [ fhir:v "Microarray-based detection of gene fusion events." ]
  ] [
fhir:code [ fhir:v "g-banding" ] ;
fhir:display [ fhir:v "G-banding" ] ;
fhir:definition [ fhir:v "Giemsa staining chromosome banding technique visualizing chromosome structure." ]
  ] [
fhir:code [ fhir:v "gc-ms" ] ;
fhir:display [ fhir:v "Gas chromatography mass spectrometry (GC-MS)" ] ;
fhir:definition [ fhir:v "Technique combining gas chromatography with mass spectrometry for chemical compound separation and identification." ]
  ] [
fhir:code [ fhir:v "gene-expression-profiling" ] ;
fhir:display [ fhir:v "Gene expression profiling" ] ;
fhir:definition [ fhir:v "Analysis of gene expression patterns using various molecular techniques." ]
  ] [
fhir:code [ fhir:v "gene-id" ] ;
fhir:display [ fhir:v "GeneID" ] ;
fhir:definition [ fhir:v "Identification of genes through sequence comparison or database lookup." ]
  ] [
fhir:code [ fhir:v "gold-nanoparticle-probe-technology" ] ;
fhir:display [ fhir:v "Gold nanoparticle probe technology" ] ;
fhir:definition [ fhir:v "Molecular detection technique using gold nanoparticles as probes." ]
  ] [
fhir:code [ fhir:v "hplc" ] ;
fhir:display [ fhir:v "High-performance liquid chromatography (HPLC)" ] ;
fhir:definition [ fhir:v "Separation and analysis technique using high-pressure liquid chromatography." ]
  ] [
fhir:code [ fhir:v "lc-ms" ] ;
fhir:display [ fhir:v "Liquid chromatography mass spectrometry (LC-MS)" ] ;
fhir:definition [ fhir:v "Combined technique using liquid chromatography followed by mass spectrometry." ]
  ] [
fhir:code [ fhir:v "lc-ms-ms" ] ;
fhir:display [ fhir:v "Liquid chromatography-tandem mass spectrometry (LC-MS/MS)" ] ;
fhir:definition [ fhir:v "Laboratory technique using liquid chromatography with tandem mass spectrometry." ]
  ] [
fhir:code [ fhir:v "metabolite-levels" ] ;
fhir:display [ fhir:v "Metabolite levels" ] ;
fhir:definition [ fhir:v "Measurement of metabolite concentrations in biological samples." ]
  ] [
fhir:code [ fhir:v "methylation-specific-pcr" ] ;
fhir:display [ fhir:v "Methylation-specific PCR" ] ;
fhir:definition [ fhir:v "PCR-based technique detecting DNA methylation patterns at specific loci." ]
  ] [
fhir:code [ fhir:v "microarray" ] ;
fhir:display [ fhir:v "Microarray" ] ;
fhir:definition [ fhir:v "Molecular technique using arrays of probes to detect DNA sequences or expression levels." ]
  ] [
fhir:code [ fhir:v "mlpa" ] ;
fhir:display [ fhir:v "Multiplex Ligation-dependent Probe Amplification (MLPA)" ] ;
fhir:definition [ fhir:v "Technique for detecting copy number variations and point mutations." ]
  ] [
fhir:code [ fhir:v "ngs-mps" ] ;
fhir:display [ fhir:v "Next-Generation (NGS)/Massively parallel sequencing (MPS)" ] ;
fhir:definition [ fhir:v "High-throughput sequencing technology for analyzing genetic variation." ]
  ] [
fhir:code [ fhir:v "ola" ] ;
fhir:display [ fhir:v "Oligonucleotide Ligation Assay (OLA)" ] ;
fhir:definition [ fhir:v "DNA sequence detection method using complementary oligonucleotide ligation." ]
  ] [
fhir:code [ fhir:v "oligonucleotide-hybridization-based-dna-sequencing" ] ;
fhir:display [ fhir:v "Oligonucleotide hybridization-based DNA sequencing" ] ;
fhir:definition [ fhir:v "DNA sequencing using hybridization with oligonucleotide probes." ]
  ] [
fhir:code [ fhir:v "other" ] ;
fhir:display [ fhir:v "Other" ] ;
fhir:definition [ fhir:v "Other genetic testing method not listed in this code system." ]
  ] [
fhir:code [ fhir:v "pcr" ] ;
fhir:display [ fhir:v "PCR" ] ;
fhir:definition [ fhir:v "Polymerase Chain Reaction for amplifying and detecting DNA sequences." ]
  ] [
fhir:code [ fhir:v "pcr-with-allele-specific-hybridization" ] ;
fhir:display [ fhir:v "PCR with allele specific hybridization" ] ;
fhir:definition [ fhir:v "PCR technique combined with allele-specific probe hybridization for variant detection." ]
  ] [
fhir:code [ fhir:v "pcr-rflp-with-southern-hybridization" ] ;
fhir:display [ fhir:v "PCR-RFLP with Southern hybridization" ] ;
fhir:definition [ fhir:v "Combination of PCR-RFLP and Southern blot analysis for genetic variation detection." ]
  ] [
fhir:code [ fhir:v "protein-truncation-test" ] ;
fhir:display [ fhir:v "Protein truncation test" ] ;
fhir:definition [ fhir:v "Molecular technique detecting premature stop codons and truncated proteins." ]
  ] [
fhir:code [ fhir:v "pyrosequencing" ] ;
fhir:display [ fhir:v "Pyrosequencing" ] ;
fhir:definition [ fhir:v "DNA sequencing method based on detection of pyrophosphate release during nucleotide incorporation." ]
  ] [
fhir:code [ fhir:v "q-banding" ] ;
fhir:display [ fhir:v "Q-banding" ] ;
fhir:definition [ fhir:v "Quinacrine staining chromosome banding technique using fluorescent dye." ]
  ] [
fhir:code [ fhir:v "qpcr" ] ;
fhir:display [ fhir:v "Quantitative PCR (qPCR)" ] ;
fhir:definition [ fhir:v "Real-time PCR technique for quantifying DNA or RNA sequences." ]
  ] [
fhir:code [ fhir:v "r-banding" ] ;
fhir:display [ fhir:v "R-banding" ] ;
fhir:definition [ fhir:v "Reverse chromosome banding technique visualizing reverse of normal G-banding pattern." ]
  ] [
fhir:code [ fhir:v "rflp" ] ;
fhir:display [ fhir:v "RFLP" ] ;
fhir:definition [ fhir:v "Restriction Fragment Length Polymorphism - technique detecting DNA variations via restriction mapping." ]
  ] [
fhir:code [ fhir:v "rt-lamp" ] ;
fhir:display [ fhir:v "RT-LAMP" ] ;
fhir:definition [ fhir:v "Reverse transcription Loop-mediated Isothermal Amplification for RNA detection." ]
  ] [
fhir:code [ fhir:v "rt-pcr" ] ;
fhir:display [ fhir:v "RT-PCR" ] ;
fhir:definition [ fhir:v "Reverse transcription PCR for detecting and amplifying RNA sequences." ]
  ] [
fhir:code [ fhir:v "rt-pcr-with-gel-analysis" ] ;
fhir:display [ fhir:v "RT-PCR with gel analysis" ] ;
fhir:definition [ fhir:v "RT-PCR product analysis using gel electrophoresis for visualization and sizing." ]
  ] [
fhir:code [ fhir:v "rt-qpcr" ] ;
fhir:display [ fhir:v "RT-qPCR" ] ;
fhir:definition [ fhir:v "Real-time reverse transcription PCR for quantitative RNA detection." ]
  ] [
fhir:code [ fhir:v "snp-detection" ] ;
fhir:display [ fhir:v "SNP Detection" ] ;
fhir:definition [ fhir:v "Detection of single nucleotide polymorphisms through molecular testing." ]
  ] [
fhir:code [ fhir:v "silver-staining" ] ;
fhir:display [ fhir:v "Silver staining" ] ;
fhir:definition [ fhir:v "Staining technique used in protein and DNA analysis for visualization." ]
  ] [
fhir:code [ fhir:v "sky" ] ;
fhir:display [ fhir:v "Spectral karyotyping (SKY)" ] ;
fhir:definition [ fhir:v "Fluorescence in situ hybridization allowing simultaneous visualization of all chromosomes." ]
  ] [
fhir:code [ fhir:v "t-banding" ] ;
fhir:display [ fhir:v "T-banding" ] ;
fhir:definition [ fhir:v "T-banding chromosome technique visualizing telomeres through staining." ]
  ] [
fhir:code [ fhir:v "ms-ms" ] ;
fhir:display [ fhir:v "Tandem mass spectrometry (MS/MS)" ] ;
fhir:definition [ fhir:v "Tandem mass spectrometry technique for analyzing molecular structure and mass." ]
  ] [
fhir:code [ fhir:v "tetra-nucleotide-repeat-by-pcr-or-southern-blot" ] ;
fhir:display [ fhir:v "Tetra-nucleotide repeat by PCR or Southern Blot" ] ;
fhir:definition [ fhir:v "Detection of tetra-nucleotide repeat expansions using PCR or Southern blot analysis." ]
  ] [
fhir:code [ fhir:v "tiling-arrays" ] ;
fhir:display [ fhir:v "Tiling Arrays" ] ;
fhir:definition [ fhir:v "Microarray technology using overlapping probes to analyze genomic regions." ]
  ] [
fhir:code [ fhir:v "trinucleotide-repeat-by-pcr-or-southern-blot" ] ;
fhir:display [ fhir:v "Trinucleotide repeat by PCR or Southern Blot" ] ;
fhir:definition [ fhir:v "Detection of trinucleotide repeat expansions using PCR or Southern blot analysis." ]
  ] [
fhir:code [ fhir:v "uni-directional-sanger-sequencing" ] ;
fhir:display [ fhir:v "Uni-directional Sanger sequencing" ] ;
fhir:definition [ fhir:v "One-directional Sanger sequencing method for DNA sequence determination." ]
  ] ) . #