Clinical Genomics Resource Incubator
0.1.0-ci-build - CI Build
Clinical Genomics Resource Incubator
0.1.0-ci-build - 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
| Page standards status: Draft | Maturity Level: 1 |
<CodeSystem xmlns="http://hl7.org/fhir">
<id value="genomicstudy-methodtype"/>
<meta>
<lastUpdated value="2022-08-16T16:49:24-05:00"/>
<profile
value="http://hl7.org/fhir/StructureDefinition/shareablecodesystem"/>
</meta>
<language value="en"/>
<text>
<status value="generated"/>
<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>
</text>
<extension
url="http://hl7.org/fhir/StructureDefinition/structuredefinition-wg">
<valueCode value="cg"/>
</extension>
<extension
url="http://hl7.org/fhir/StructureDefinition/structuredefinition-standards-status">
<valueCode value="draft"/>
</extension>
<extension
url="http://hl7.org/fhir/StructureDefinition/structuredefinition-fmm">
<valueInteger value="1"/>
</extension>
<url
value="http://hl7.org/fhir/uv/cg-incubator/CodeSystem/genomicstudy-methodtype"/>
<identifier>
<system value="urn:ietf:rfc:3986"/>
<value value="urn:oid:2.16.840.1.113883.4.642.4.1979"/>
</identifier>
<version value="0.1.0-ci-build"/>
<name value="GenomicStudyMethodType"/>
<title value="Genomic Study Method Type"/>
<status value="draft"/>
<experimental value="true"/>
<date value="2022-08-16T16:49:24-05:00"/>
<publisher value="HL7 International / Clinical Genomics"/>
<contact>
<name value="HL7 International / Clinical Genomics"/>
<telecom>
<system value="url"/>
<value value="http://www.hl7.org/Special/committees/clingenomics"/>
</telecom>
<telecom>
<system value="email"/>
<value value="clingenomics@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/uv/cg-incubator/ValueSet/genomicstudy-methodtype"/>
<content value="complete"/>
<concept>
<code value="biochemical-genetics"/>
<display value="Biochemical Genetics"/>
<definition
value="Analysis of biochemical compounds and pathways to detect genetic metabolic disorders."/>
</concept>
<concept>
<code value="cytogenetics"/>
<display value="Cytogenetics"/>
<definition
value="Study of chromosome structure and number using microscopy-based methods."/>
</concept>
<concept>
<code value="molecular-genetics"/>
<display value="Molecular Genetics"/>
<definition
value="Analysis of DNA and genes using molecular techniques to identify variations and mutations."/>
</concept>
<concept>
<code value="analyte"/>
<display value="Analyte"/>
<definition
value="Analysis of biological analytes to detect genetic disorders."/>
</concept>
<concept>
<code value="chromosome-breakage-studies"/>
<display value="Chromosome breakage studies"/>
<definition
value="Tests to assess chromosome stability and fragility, often used to detect DNA repair disorders."/>
</concept>
<concept>
<code value="deletion-duplication-analysis"/>
<display value="Deletion/duplication analysis"/>
<definition
value="Detection of deletions and duplications in DNA sequences."/>
</concept>
<concept>
<code value="detection-of-homozygosity"/>
<display value="Detection of homozygosity"/>
<definition value="Identification of homozygous regions in the genome."/>
</concept>
<concept>
<code value="enzyme-assay"/>
<display value="Enzyme assay"/>
<definition
value="Measurement of enzyme activity to detect genetic metabolic disorders."/>
</concept>
<concept>
<code value="fish-interphase"/>
<display value="FISH-interphase"/>
<definition
value="Fluorescence in situ hybridization performed during interphase of the cell cycle."/>
</concept>
<concept>
<code value="fish-metaphase"/>
<display value="FISH-metaphase"/>
<definition
value="Fluorescence in situ hybridization performed during metaphase of the cell cycle."/>
</concept>
<concept>
<code value="flow-cytometry"/>
<display value="Flow cytometry"/>
<definition
value="Analysis of cells using flow cytometry to assess genetic disorders."/>
</concept>
<concept>
<code value="fish"/>
<display value="Fluorescence in situ hybridization (FISH)"/>
<definition
value="Visualization of specific DNA sequences using fluorescent probes."/>
</concept>
<concept>
<code value="immunohistochemistry"/>
<display value="Immunohistochemistry"/>
<definition
value="Detection of antigens in tissue samples using antibodies."/>
</concept>
<concept>
<code value="karyotyping"/>
<display value="Karyotyping"/>
<definition
value="Visual analysis of chromosome structure and number in metaphase cells."/>
</concept>
<concept>
<code value="linkage-analysis"/>
<display value="Linkage analysis"/>
<definition
value="Analysis of genetic markers to identify disease-associated variants in families."/>
</concept>
<concept>
<code value="methylation-analysis"/>
<display value="Methylation analysis"/>
<definition
value="Detection of DNA methylation patterns to assess epigenetic modifications."/>
</concept>
<concept>
<code value="msi"/>
<display value="Microsatellite instability testing (MSI)"/>
<definition
value="Detection of microsatellite instability to assess DNA mismatch repair function."/>
</concept>
<concept>
<code value="m-fish"/>
<display value="Multicolor FISH (M-FISH)"/>
<definition
value="Multiple fluorescent in situ hybridization using multiple probes and colors simultaneously."/>
</concept>
<concept>
<code value="mutation-scanning-of-select-exons"/>
<display value="Mutation scanning of select exons"/>
<definition
value="Screening for mutations in specific exons of targeted genes."/>
</concept>
<concept>
<code value="mutation-scanning-of-the-entire-coding-region"/>
<display value="Mutation scanning of the entire coding region"/>
<definition
value="Comprehensive screening for mutations throughout the entire coding region of a gene."/>
</concept>
<concept>
<code value="protein-analysis"/>
<display value="Protein analysis"/>
<definition
value="Analysis of protein structure and function to detect genetic disorders affecting protein."/>
</concept>
<concept>
<code value="protein-expression"/>
<display value="Protein expression"/>
<definition
value="Measurement of protein expression levels to assess genetic effects on protein production."/>
</concept>
<concept>
<code value="rna-analysis"/>
<display value="RNA analysis"/>
<definition
value="Analysis of RNA sequences and expression to detect genetic disorders."/>
</concept>
<concept>
<code value="sequence-analysis-of-select-exons"/>
<display value="Sequence analysis of select exons"/>
<definition
value="DNA sequencing of specific exons to identify mutations."/>
</concept>
<concept>
<code value="sequence-analysis-of-the-entire-coding-region"/>
<display value="Sequence analysis of the entire coding region"/>
<definition
value="Comprehensive DNA sequencing of the entire coding region of a gene."/>
</concept>
<concept>
<code value="sister-chromatid-exchange"/>
<display value="Sister chromatid exchange"/>
<definition
value="Assessment of sister chromatid exchange as an indicator of DNA damage and repair."/>
</concept>
<concept>
<code value="targeted-variant-analysis"/>
<display value="Targeted variant analysis"/>
<definition
value="Sequencing or genotyping of specific, pre-selected genetic variants."/>
</concept>
<concept>
<code value="udp"/>
<display value="Uniparental disomy study (UPD)"/>
<definition
value="Detection of regions where both chromosomes are inherited from a single parent."/>
</concept>
<concept>
<code value="aspe"/>
<display value="Allele-specific primer extension (ASPE)"/>
<definition
value="Genotyping method using allele-specific primers to identify genetic variants."/>
</concept>
<concept>
<code value="alternative-splicing-detection"/>
<display value="Alternative splicing detection"/>
<definition
value="Detection and analysis of alternative splicing patterns in RNA."/>
</concept>
<concept>
<code value="bi-directional-sanger-sequence-analysis"/>
<display value="Bi-directional Sanger Sequence Analysis"/>
<definition
value="DNA sequencing using Sanger method in both forward and reverse directions."/>
</concept>
<concept>
<code value="c-banding"/>
<display value="C-banding"/>
<definition
value="Chromosome banding technique visualizing constitutive heterochromatin."/>
</concept>
<concept>
<code value="cia"/>
<display value="Chemiluminescent Immunoassay (CIA)"/>
<definition
value="Immunoassay detecting antigens using chemiluminescent reaction."/>
</concept>
<concept>
<code value="chromatin-immunoprecipitation-on-chip"/>
<display value="Chromatin Immunoprecipitation on ChIP"/>
<definition
value="ChIP-on-chip analysis combining chromatin immunoprecipitation with microarray."/>
</concept>
<concept>
<code value="comparative-genomic-hybridization"/>
<display value="Comparative Genomic Hybridization"/>
<definition
value="Detection of copy number variations by comparison of test and control DNA."/>
</concept>
<concept>
<code value="damid"/>
<display value="DamID"/>
<definition
value="DNA Adenine Methyltransferase Identification for mapping protein-DNA interactions."/>
</concept>
<concept>
<code value="digital-virtual-karyotyping"/>
<display value="Digital / Virtual karyotyping"/>
<definition
value="Computer-based analysis of chromosome patterns and abnormalities."/>
</concept>
<concept>
<code value="digital-microfluidic-microspheres"/>
<display value="Digital microfluidic microspheres"/>
<definition
value="Microfluidic technology using digital control for genetic analysis."/>
</concept>
<concept>
<code value="enzymatic-levels"/>
<display value="Enzymatic levels"/>
<definition value="Measurement of enzyme levels in biological samples."/>
</concept>
<concept>
<code value="enzyme-activity"/>
<display value="Enzyme activity"/>
<definition
value="Measurement of enzyme activity levels in biological samples."/>
</concept>
<concept>
<code value="elisa"/>
<display value="Enzyme-Linked Immunosorbent Assays (ELISA)"/>
<definition
value="Immunoassay for detecting antigens using enzyme-linked antibodies."/>
</concept>
<concept>
<code value="fluorometry"/>
<display value="Fluorometry"/>
<definition
value="Measurement of fluorescence intensity to quantify biological molecules."/>
</concept>
<concept>
<code value="fusion-genes-microarrays"/>
<display value="Fusion genes microarrays"/>
<definition value="Microarray-based detection of gene fusion events."/>
</concept>
<concept>
<code value="g-banding"/>
<display value="G-banding"/>
<definition
value="Giemsa staining chromosome banding technique visualizing chromosome structure."/>
</concept>
<concept>
<code value="gc-ms"/>
<display value="Gas chromatography mass spectrometry (GC-MS)"/>
<definition
value="Technique combining gas chromatography with mass spectrometry for chemical compound separation and identification."/>
</concept>
<concept>
<code value="gene-expression-profiling"/>
<display value="Gene expression profiling"/>
<definition
value="Analysis of gene expression patterns using various molecular techniques."/>
</concept>
<concept>
<code value="gene-id"/>
<display value="GeneID"/>
<definition
value="Identification of genes through sequence comparison or database lookup."/>
</concept>
<concept>
<code value="gold-nanoparticle-probe-technology"/>
<display value="Gold nanoparticle probe technology"/>
<definition
value="Molecular detection technique using gold nanoparticles as probes."/>
</concept>
<concept>
<code value="hplc"/>
<display value="High-performance liquid chromatography (HPLC)"/>
<definition
value="Separation and analysis technique using high-pressure liquid chromatography."/>
</concept>
<concept>
<code value="lc-ms"/>
<display value="Liquid chromatography mass spectrometry (LC-MS)"/>
<definition
value="Combined technique using liquid chromatography followed by mass spectrometry."/>
</concept>
<concept>
<code value="lc-ms-ms"/>
<display
value="Liquid chromatography-tandem mass spectrometry (LC-MS/MS)"/>
<definition
value="Laboratory technique using liquid chromatography with tandem mass spectrometry."/>
</concept>
<concept>
<code value="metabolite-levels"/>
<display value="Metabolite levels"/>
<definition
value="Measurement of metabolite concentrations in biological samples."/>
</concept>
<concept>
<code value="methylation-specific-pcr"/>
<display value="Methylation-specific PCR"/>
<definition
value="PCR-based technique detecting DNA methylation patterns at specific loci."/>
</concept>
<concept>
<code value="microarray"/>
<display value="Microarray"/>
<definition
value="Molecular technique using arrays of probes to detect DNA sequences or expression levels."/>
</concept>
<concept>
<code value="mlpa"/>
<display value="Multiplex Ligation-dependent Probe Amplification (MLPA)"/>
<definition
value="Technique for detecting copy number variations and point mutations."/>
</concept>
<concept>
<code value="ngs-mps"/>
<display
value="Next-Generation (NGS)/Massively parallel sequencing (MPS)"/>
<definition
value="High-throughput sequencing technology for analyzing genetic variation."/>
</concept>
<concept>
<code value="ola"/>
<display value="Oligonucleotide Ligation Assay (OLA)"/>
<definition
value="DNA sequence detection method using complementary oligonucleotide ligation."/>
</concept>
<concept>
<code value="oligonucleotide-hybridization-based-dna-sequencing"/>
<display value="Oligonucleotide hybridization-based DNA sequencing"/>
<definition
value="DNA sequencing using hybridization with oligonucleotide probes."/>
</concept>
<concept>
<code value="other"/>
<display value="Other"/>
<definition
value="Other genetic testing method not listed in this code system."/>
</concept>
<concept>
<code value="pcr"/>
<display value="PCR"/>
<definition
value="Polymerase Chain Reaction for amplifying and detecting DNA sequences."/>
</concept>
<concept>
<code value="pcr-with-allele-specific-hybridization"/>
<display value="PCR with allele specific hybridization"/>
<definition
value="PCR technique combined with allele-specific probe hybridization for variant detection."/>
</concept>
<concept>
<code value="pcr-rflp-with-southern-hybridization"/>
<display value="PCR-RFLP with Southern hybridization"/>
<definition
value="Combination of PCR-RFLP and Southern blot analysis for genetic variation detection."/>
</concept>
<concept>
<code value="protein-truncation-test"/>
<display value="Protein truncation test"/>
<definition
value="Molecular technique detecting premature stop codons and truncated proteins."/>
</concept>
<concept>
<code value="pyrosequencing"/>
<display value="Pyrosequencing"/>
<definition
value="DNA sequencing method based on detection of pyrophosphate release during nucleotide incorporation."/>
</concept>
<concept>
<code value="q-banding"/>
<display value="Q-banding"/>
<definition
value="Quinacrine staining chromosome banding technique using fluorescent dye."/>
</concept>
<concept>
<code value="qpcr"/>
<display value="Quantitative PCR (qPCR)"/>
<definition
value="Real-time PCR technique for quantifying DNA or RNA sequences."/>
</concept>
<concept>
<code value="r-banding"/>
<display value="R-banding"/>
<definition
value="Reverse chromosome banding technique visualizing reverse of normal G-banding pattern."/>
</concept>
<concept>
<code value="rflp"/>
<display value="RFLP"/>
<definition
value="Restriction Fragment Length Polymorphism - technique detecting DNA variations via restriction mapping."/>
</concept>
<concept>
<code value="rt-lamp"/>
<display value="RT-LAMP"/>
<definition
value="Reverse transcription Loop-mediated Isothermal Amplification for RNA detection."/>
</concept>
<concept>
<code value="rt-pcr"/>
<display value="RT-PCR"/>
<definition
value="Reverse transcription PCR for detecting and amplifying RNA sequences."/>
</concept>
<concept>
<code value="rt-pcr-with-gel-analysis"/>
<display value="RT-PCR with gel analysis"/>
<definition
value="RT-PCR product analysis using gel electrophoresis for visualization and sizing."/>
</concept>
<concept>
<code value="rt-qpcr"/>
<display value="RT-qPCR"/>
<definition
value="Real-time reverse transcription PCR for quantitative RNA detection."/>
</concept>
<concept>
<code value="snp-detection"/>
<display value="SNP Detection"/>
<definition
value="Detection of single nucleotide polymorphisms through molecular testing."/>
</concept>
<concept>
<code value="silver-staining"/>
<display value="Silver staining"/>
<definition
value="Staining technique used in protein and DNA analysis for visualization."/>
</concept>
<concept>
<code value="sky"/>
<display value="Spectral karyotyping (SKY)"/>
<definition
value="Fluorescence in situ hybridization allowing simultaneous visualization of all chromosomes."/>
</concept>
<concept>
<code value="t-banding"/>
<display value="T-banding"/>
<definition
value="T-banding chromosome technique visualizing telomeres through staining."/>
</concept>
<concept>
<code value="ms-ms"/>
<display value="Tandem mass spectrometry (MS/MS)"/>
<definition
value="Tandem mass spectrometry technique for analyzing molecular structure and mass."/>
</concept>
<concept>
<code value="tetra-nucleotide-repeat-by-pcr-or-southern-blot"/>
<display value="Tetra-nucleotide repeat by PCR or Southern Blot"/>
<definition
value="Detection of tetra-nucleotide repeat expansions using PCR or Southern blot analysis."/>
</concept>
<concept>
<code value="tiling-arrays"/>
<display value="Tiling Arrays"/>
<definition
value="Microarray technology using overlapping probes to analyze genomic regions."/>
</concept>
<concept>
<code value="trinucleotide-repeat-by-pcr-or-southern-blot"/>
<display value="Trinucleotide repeat by PCR or Southern Blot"/>
<definition
value="Detection of trinucleotide repeat expansions using PCR or Southern blot analysis."/>
</concept>
<concept>
<code value="uni-directional-sanger-sequencing"/>
<display value="Uni-directional Sanger sequencing"/>
<definition
value="One-directional Sanger sequencing method for DNA sequence determination."/>
</concept>
</CodeSystem>
IG © 2026+ HL7 International / Clinical Genomics.
Package hl7.fhir.uv.cg-incubator#0.1.0-ci-build based on FHIR 6.0.0-ballot3.
Generated
2026-03-24
Links: Table of Contents |
QA Report
| Version History |
|
Propose a change