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Narrative

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Source1

{
  "resourceType": "Procedure",
  "id": "PrenatalGenomicStudyAnalysisPrimaryHyperoxaluriaCouple",
  "meta": {
    "versionId": "1",
    "lastUpdated": "2024-10-02T03:41:34.767+00:00",
    "source": "#JVN7S7CW0og8nwN0",
    "profile": [
      "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/genomic-study-analysis"
    ]
  },
  "text": {
    "status": "extensions",
    "div": "<!-- snip (see above) -->"
  },
  "extension": [
    {
      "url": "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/genomic-study-analysis-genomic-source-class",
      "valueCodeableConcept": {
        "coding": [
          {
            "system": "http://loinc.org",
            "code": "LA6683-2",
            "display": "Germline"
          }
        ]
      }
    },
    {
      "url": "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/genomic-study-analysis-genome-build",
      "valueCodeableConcept": {
        "coding": [
          {
            "system": "http://loinc.org",
            "code": "LA14029-5",
            "display": "GRCh37"
          }
        ]
      }
    },
    {
      "extension": [
        {
          "url": "description",
          "valueString": "Exons sequenced"
        },
        {
          "url": "studied",
          "valueCodeableConcept": {
            "coding": [
              {
                "system": "http://www.ncbi.nlm.nih.gov/refseq",
                "code": "NM_000030",
                "display": "Exons: NM_000030:1-11"
              }
            ]
          }
        }
      ],
      "url": "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/genomic-study-analysis-regions"
    },
    {
      "extension": [
        {
          "url": "description",
          "valueString": "Genes studied"
        },
        {
          "url": "studied",
          "valueCodeableConcept": {
            "coding": [
              {
                "system": "http://www.genenames.org",
                "code": "HGNC:341",
                "display": "AGXT"
              }
            ]
          }
        }
      ],
      "url": "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/genomic-study-analysis-regions"
    },
    {
      "url": "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/genomic-study-analysis-method-type",
      "valueCodeableConcept": {
        "coding": [
          {
            "system": "http://loinc.org",
            "code": "101397-8",
            "display": "Copy number variation analysis in Blood or Tissue by Sequencing"
          }
        ]
      }
    },
    {
      "url": "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/genomic-study-analysis-method-type",
      "valueCodeableConcept": {
        "coding": [
          {
            "system": "http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/genomic-study-method-type-cs",
            "code": "sequence-analysis-of-select-exons",
            "display": "Sequence analysis of select exons"
          }
        ]
      }
    }
  ],
  "status": "completed",
  "subject": {
    "reference": "Group/PrenatalGroupPatientFemaleandPatientMale"
  },
  "performedDateTime": "2024-06-26",
  "note": [
    {
      "text": "primary hyperoxaluria type 1 - AGXT. Autosomal recessive inheritance. sequencing with copy number analysis. Detection rate: Northern European >99%"
    },
    {
      "text": "No disease-causing mutations were detected in any other gene tested for primary hyperoxaluria type 1"
    },
    {
      "text": "Report content approved by PractitionerJane Smith, PhD, FACMG, CGMB on Jun 26, 2024"
    },
    {
      "text": "Report content approved by Krista Moyer, MGC on Jun 26, 2024"
    }
  ]
}