Genomic Study Method Type VS - 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

ValueSet: Genomic Study Method Type VS (Experimental)

Official URL: http://hl7.org/fhir/uv/cg-incubator/ValueSet/genomicstudy-methodtype	Version: 0.1.0-ci-build	Highlight text changes?
Standards status: Draft Draft as of 2022-08-16	Maturity Level: 1	Computable Name: GenomicStudyMethodTypeVS
Other Identifiers: OID:2.16.840.1.113883.4.642.3.3085

The method type of the GenomicStudy analysis.

References

Logical Definition (CLD)

Last updated: 2020-12-28 16:55:11+1100

Profile: Shareable ValueSet

Include all codes defined in http://hl7.org/fhir/uv/cg-incubator/CodeSystem/genomicstudy-methodtype version 📦0.1.0-ci-build

Expansion

Expansion performed internally based on codesystem Genomic Study Method Type v0.1.0-ci-build (CodeSystem)

This value set contains 81 concepts

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

Description of the above table(s).