description: Genomic analysis summary report. The report may include one or more tests, with two distinct test types. The first type is a targeted mutation test, where a specific mutation on a specific gene is tested for. The result is either positive or negative for that mutation. The second type is a more general test for variants. This type of test returns the identity of variants found in a certain region of the genome.
package_name: hl7.fhir.us.mcode
derivation: constraint
name: GenomicsReport
type: DiagnosticReport
elements:
  category:
    array: true
    min: 2
    index: 0
    slicing:
      slices:
        GenomicsCategory:
          match: {}
          schema:
            pattern:
              type: CodeableConcept
              value:
                coding:
                - {code: GE, system: 'http://terminology.hl7.org/CodeSystem/v2-0074'}
            _required: true
            index: 1
          min: 1
          max: 1
  code:
    pattern:
      type: CodeableConcept
      value:
        coding:
        - {code: 81247-9, system: 'http://loinc.org'}
    index: 2
  specimen:
    type: Reference
    mustSupport: true
    refers: ['http://hl7.org/fhir/us/mcode/StructureDefinition/mcode-genomic-specimen']
    index: 3
  result:
    index: 4
    slicing:
      rules: open
      description: Slice based on the reference profile and code pattern
      discriminator:
      - {path: $this.resolve().code, type: pattern}
      min: null
      slices:
        GenomicVariant:
          match:
            $this:
              resolve(): {code: null}
          schema:
            short: Reference to Genomic Variant
            refers: ['http://hl7.org/fhir/us/mcode/StructureDefinition/mcode-genomic-variant']
            type: Reference
            mustSupport: true
            index: 5
          min: 0
          max: 1
        GenomicRegionStudied:
          match:
            $this:
              resolve(): {code: null}
          schema:
            short: Reference to Genomic Region Studied
            refers: ['http://hl7.org/fhir/us/mcode/StructureDefinition/mcode-genomic-region-studied']
            type: Reference
            mustSupport: true
            index: 6
          min: 0
          max: 1
package_version: 2.1.0
class: profile
kind: resource
url: http://hl7.org/fhir/us/mcode/StructureDefinition/mcode-genomics-report
base: http://hl7.org/fhir/us/core/StructureDefinition/us-core-diagnosticreport-lab
version: 2.1.0