# Genomic Study Analysis Regions - Genomics Reporting Implementation Guide v4.0.0-cibuild

* [**Table of Contents**](toc.md)
* [**Artifact List**](artifacts.md)
* **Genomic Study Analysis Regions**

## Extension: Genomic Study Analysis Regions 

| | | |
| :--- | :--- | :--- |
| *Official URL*:http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/genomic-study-analysis-regions | *Version*:4.0.0-cibuild | |
| *Standards status:*[Trial-use](http://hl7.org/fhir/R4/versions.html#std-process) | [Maturity Level](http://hl7.org/fhir/versions.html#maturity): 2 | *Computable Name*:GenomicStudyAnalysisRegions |

Defines the regions studied, regions called, and regions deemed uncallable (generally due to low coverage)

**Context of Use**

**Usage info**

**Usages:**

* Use this Extension: [Genomic Study Analysis](StructureDefinition-genomic-study-analysis.md)
* Examples for this Extension: [Procedure/PGXGenomicStudyAnalysis](Procedure-PGXGenomicStudyAnalysis.md), [Procedure/analysisTumorNormalDNA](Procedure-analysisTumorNormalDNA.md), [Procedure/analysisTumorRNA](Procedure-analysisTumorRNA.md), [Procedure/lungMass-analysis1](Procedure-lungMass-analysis1.md) and [Procedure/lungMass-analysis2](Procedure-lungMass-analysis2.md)

You can also check for [usages in the FHIR IG Statistics](https://packages2.fhir.org/xig/hl7.fhir.uv.genomics-reporting|current/StructureDefinition/genomic-study-analysis-regions)

### Formal Views of Extension Content

 [Description of Profiles, Differentials, Snapshots, and how the XML and JSON presentations work](http://build.fhir.org/ig/FHIR/ig-guidance/readingIgs.html#structure-definitions). 

 

Other representations of profile: [CSV](StructureDefinition-genomic-study-analysis-regions.csv), [Excel](StructureDefinition-genomic-study-analysis-regions.xlsx), [Schematron](StructureDefinition-genomic-study-analysis-regions.sch) 

#### Terminology Bindings

#### Constraints



## Resource Content

```json
{
  "resourceType" : "StructureDefinition",
  "id" : "genomic-study-analysis-regions",
  "extension" : [
    {
      "url" : "http://hl7.org/fhir/StructureDefinition/structuredefinition-wg",
      "valueCode" : "cg"
    },
    {
      "url" : "http://hl7.org/fhir/StructureDefinition/structuredefinition-fmm",
      "valueInteger" : 2,
      "_valueInteger" : {
        "extension" : [
          {
            "url" : "http://hl7.org/fhir/StructureDefinition/structuredefinition-conformance-derivedFrom",
            "valueCanonical" : "http://hl7.org/fhir/uv/genomics-reporting/ImplementationGuide/genomics-reporting"
          }
        ]
      }
    },
    {
      "url" : "http://hl7.org/fhir/StructureDefinition/structuredefinition-standards-status",
      "valueCode" : "trial-use",
      "_valueCode" : {
        "extension" : [
          {
            "url" : "http://hl7.org/fhir/StructureDefinition/structuredefinition-conformance-derivedFrom",
            "valueCanonical" : "http://hl7.org/fhir/uv/genomics-reporting/ImplementationGuide/genomics-reporting"
          }
        ]
      }
    }
  ],
  "url" : "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/genomic-study-analysis-regions",
  "version" : "4.0.0-cibuild",
  "name" : "GenomicStudyAnalysisRegions",
  "title" : "Genomic Study Analysis Regions",
  "status" : "active",
  "date" : "2025-11-08T00:09:50+00:00",
  "publisher" : "HL7 International / Clinical Genomics",
  "contact" : [
    {
      "name" : "HL7 International / Clinical Genomics",
      "telecom" : [
        {
          "system" : "url",
          "value" : "http://www.hl7.org/Special/committees/clingenomics"
        },
        {
          "system" : "email",
          "value" : "cg@lists.HL7.org"
        }
      ]
    }
  ],
  "description" : "Defines the regions studied, regions called, and regions deemed uncallable (generally due to low coverage)",
  "jurisdiction" : [
    {
      "coding" : [
        {
          "system" : "http://unstats.un.org/unsd/methods/m49/m49.htm",
          "code" : "001",
          "display" : "World"
        }
      ]
    }
  ],
  "fhirVersion" : "4.0.1",
  "mapping" : [
    {
      "identity" : "rim",
      "uri" : "http://hl7.org/v3",
      "name" : "RIM Mapping"
    }
  ],
  "kind" : "complex-type",
  "abstract" : false,
  "context" : [
    {
      "type" : "element",
      "expression" : "Procedure"
    }
  ],
  "type" : "Extension",
  "baseDefinition" : "http://hl7.org/fhir/StructureDefinition/Extension",
  "derivation" : "constraint",
  "differential" : {
    "element" : [
      {
        "id" : "Extension",
        "path" : "Extension",
        "short" : "Genomic Study Analysis Regions",
        "definition" : "Defines the regions studied, regions called, and regions deemed uncallable (generally due to low coverage)"
      },
      {
        "id" : "Extension.extension:description",
        "path" : "Extension.extension",
        "sliceName" : "description",
        "short" : "Regions Studied Description",
        "definition" : "Freetext description of the regions studied for the sequencing test",
        "min" : 0,
        "max" : "1"
      },
      {
        "id" : "Extension.extension:description.extension",
        "path" : "Extension.extension.extension",
        "max" : "0"
      },
      {
        "id" : "Extension.extension:description.url",
        "path" : "Extension.extension.url",
        "fixedUri" : "description"
      },
      {
        "id" : "Extension.extension:description.value[x]",
        "path" : "Extension.extension.value[x]",
        "type" : [
          {
            "code" : "string"
          }
        ]
      },
      {
        "id" : "Extension.extension:studied",
        "path" : "Extension.extension",
        "sliceName" : "studied",
        "short" : "Genes or Regions Studied (GenomicStudy.analysis.regionsStudied)",
        "definition" : "The genes or regions that were studied in the analysis.",
        "requirements" : "Shared as a coded list of HGNC gene symbols or a BED file. For coded genes, the HGNC gene symbol is to be used as display text and the HGNC gene ID used as the code. If no HGNC code issued for this gene yet, NCBI gene IDs SHALL be used. If details beyond a coded list of genes are needed, a BED file SHALL be used to further describe the regions studied in the analysis.",
        "min" : 0,
        "max" : "*"
      },
      {
        "id" : "Extension.extension:studied.extension",
        "path" : "Extension.extension.extension",
        "max" : "0"
      },
      {
        "id" : "Extension.extension:studied.url",
        "path" : "Extension.extension.url",
        "fixedUri" : "studied"
      },
      {
        "id" : "Extension.extension:studied.value[x]",
        "path" : "Extension.extension.value[x]",
        "short" : "Gene codes or BED file",
        "min" : 1,
        "type" : [
          {
            "code" : "CodeableConcept"
          },
          {
            "code" : "Reference",
            "targetProfile" : [
              "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/genomic-data-file"
            ]
          }
        ],
        "binding" : {
          "strength" : "extensible",
          "valueSet" : "http://hl7.org/fhir/uv/genomics-reporting/ValueSet/hgnc-vs"
        }
      },
      {
        "id" : "Extension.extension:called",
        "path" : "Extension.extension",
        "sliceName" : "called",
        "short" : "Genes or Regions Called (GenomicStudy.analysis.regionsCalled)",
        "definition" : "The genes or regions that were studied for the analysis with sufficient coverage and quality to be called.",
        "requirements" : "Shared as a coded list of HGNC gene symbols or a BED file. For coded genes, the HGNC gene symbol is to be used as display text and the HGNC gene ID used as the code. If no HGNC code issued for this gene yet, NCBI gene IDs SHALL be used. If details beyond a coded list of genes are needed, a BED file SHALL be used to further describe the regions deemed callable.",
        "min" : 0,
        "max" : "*"
      },
      {
        "id" : "Extension.extension:called.extension",
        "path" : "Extension.extension.extension",
        "max" : "0"
      },
      {
        "id" : "Extension.extension:called.url",
        "path" : "Extension.extension.url",
        "fixedUri" : "called"
      },
      {
        "id" : "Extension.extension:called.value[x]",
        "path" : "Extension.extension.value[x]",
        "short" : "Gene codes or BED file",
        "min" : 1,
        "type" : [
          {
            "code" : "CodeableConcept"
          },
          {
            "code" : "Reference",
            "targetProfile" : [
              "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/genomic-data-file"
            ]
          }
        ],
        "binding" : {
          "strength" : "extensible",
          "valueSet" : "http://hl7.org/fhir/uv/genomics-reporting/ValueSet/hgnc-vs"
        }
      },
      {
        "id" : "Extension.extension:uncalled",
        "path" : "Extension.extension",
        "sliceName" : "uncalled",
        "short" : "Genes or Regions Uncalled",
        "definition" : "The genes or regions that were studied for the analysis but were deemed uncallable.",
        "requirements" : "Shared as a coded list of HGNC gene symbols or a BED file. For coded genes, the HGNC gene symbol is to be used as display text and the HGNC gene ID used as the code. If no HGNC code issued for this gene yet, NCBI gene IDs SHALL be used. If details beyond a coded list of genes are needed, a BED file SHALL be used to further describe the regions deemed uncallable.",
        "min" : 0,
        "max" : "*"
      },
      {
        "id" : "Extension.extension:uncalled.extension",
        "path" : "Extension.extension.extension",
        "max" : "0"
      },
      {
        "id" : "Extension.extension:uncalled.url",
        "path" : "Extension.extension.url",
        "fixedUri" : "uncalled"
      },
      {
        "id" : "Extension.extension:uncalled.value[x]",
        "path" : "Extension.extension.value[x]",
        "short" : "Gene codes or BED file",
        "min" : 1,
        "type" : [
          {
            "code" : "CodeableConcept"
          },
          {
            "code" : "Reference",
            "targetProfile" : [
              "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/genomic-data-file"
            ]
          }
        ],
        "binding" : {
          "strength" : "extensible",
          "valueSet" : "http://hl7.org/fhir/uv/genomics-reporting/ValueSet/hgnc-vs"
        }
      },
      {
        "id" : "Extension.url",
        "path" : "Extension.url",
        "fixedUri" : "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/genomic-study-analysis-regions"
      },
      {
        "id" : "Extension.value[x]",
        "path" : "Extension.value[x]",
        "max" : "0"
      }
    ]
  }
}

```
