FHIRsmith: Procedure/Procedure-PrenatalGenomicStudyCouple.json

FHIR IG analytics

Package	fhir.gdx
Resource Type	Procedure
Id	Procedure-PrenatalGenomicStudyCouple.json
FHIR Version	R4

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Narrative

Note: links and images are rebased to the (stated) source

Generated Narrative: Procedure PrenatalGenomicStudyCouple

version: 2; Last updated: 2024-10-02 03:41:34+0000;

Information Source: #JVN7S7CW0og8nwN0

Profile: Genomic Study

Genomic Study Analysis Extension: Procedure: extension = Germline,GRCh37,,,Copy number variation analysis in Blood or Tissue by Sequencing,Sequence analysis of select exons; status = completed; performed[x] = 2024-06-26; note = factor XI deficiency - F11. Autosomal recessive inheritance. sequencing with copy number analysis. Detection rate: Northern European >99%,No disease-causing mutations were detected in any other gene tested for factor XI deficiency,Report content approved by PractitionerJane Smith, PhD, FACMG, CGMB on Jun 26, 2024,Report content approved by Krista Moyer, MGC on Jun 26, 2024

Genomic Study Analysis Extension: Procedure: extension = Germline,GRCh37,,,Copy number variation analysis in Blood or Tissue by Sequencing,Sequence analysis of select exons; status = completed; performed[x] = 2024-06-26; note = glycogen storage disease type III - AGL. Autosomal recessive inheritance. sequencing with copy number analysis. Detection rate: Northern European >99%,No disease-causing mutations were detected in any other gene tested for glycogen storage disease type III,Report content approved by PractitionerJane Smith, PhD, FACMG, CGMB on Jun 26, 2024,Report content approved by Krista Moyer, MGC on Jun 26, 2024

Genomic Study Analysis Extension: Procedure: extension = Germline,GRCh37,,Sequence analysis of select exons; status = completed; performed[x] = 2024-06-26; note = HFE-associated hereditary hemochromatosis - HFE. Autosomal recessive inheritance. targeted genotyping. Detection rate: Not calculated due to rarity of disease in this individual's reported ethnicity,No disease-causing mutations were detected in any other gene tested for HFE-associated hereditary hemochromatosis,Report content approved by PractitionerJane Smith, PhD, FACMG, CGMB on Jun 26, 2024,Report content approved by Krista Moyer, MGC on Jun 26, 2024

Genomic Study Analysis Extension: Procedure: extension = Germline,GRCh37,,,Copy number variation analysis in Blood or Tissue by Sequencing,Sequence analysis of select exons; status = completed; performed[x] = 2024-06-26; note = primary hyperoxaluria type 1 - AGXT. Autosomal recessive inheritance. sequencing with copy number analysis. Detection rate: Northern European >99%,No disease-causing mutations were detected in any other gene tested for primary hyperoxaluria type 1,Report content approved by PractitionerJane Smith, PhD, FACMG, CGMB on Jun 26, 2024,Report content approved by Krista Moyer, MGC on Jun 26, 2024

status: Completed

category: Laboratory

subject: Group: type = person; actual = true

performed: 2024-06-26

reasonCode: Pregnant - planned (finding)

note:

The <b>Organization Prenatal Carrier Screen</b> utilizes sequencing, maximizing coverage across all DNA regions tested, to help you learn about your chance to have a child with a genetic disease.

Source1

{
  "resourceType": "Procedure",
  "id": "PrenatalGenomicStudyCouple",
  "meta": {
    "versionId": "2",
    "lastUpdated": "2024-10-02T03:41:34.767+00:00",
    "source": "#JVN7S7CW0og8nwN0",
    "profile": [
      "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/genomic-study"
    ]
  },
  "text": {
    "status": "extensions",
    "div": "<!-- snip (see above) -->"
  },
  "extension": [
    {
      "url": "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/genomic-study-analysis-ext",
      "valueReference": {
        "reference": "Procedure/PrenatalGenomicStudyAnalysisFactorXiDeficiencyCouple"
      }
    },
    {
      "url": "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/genomic-study-analysis-ext",
      "valueReference": {
        "reference": "Procedure/PrenatalGenomicStudyAnalysisGlycogenStorageDiseaseCouple"
      }
    },
    {
      "url": "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/genomic-study-analysis-ext",
      "valueReference": {
        "reference": "Procedure/PrenatalGenomicStudyAnalysisHereditaryHemochromatoCouple"
      }
    },
    {
      "url": "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/genomic-study-analysis-ext",
      "valueReference": {
        "reference": "Procedure/PrenatalGenomicStudyAnalysisPrimaryHyperoxaluriaCouple"
      }
    }
  ],
  "status": "completed",
  "category": {
    "coding": [
      {
        "system": "http://terminology.hl7.org/CodeSystem/observation-category",
        "code": "laboratory"
      }
    ]
  },
  "subject": {
    "reference": "Group/PrenatalGroupPatientFemaleandPatientMale"
  },
  "performedDateTime": "2024-06-26",
  "reasonCode": [
    {
      "coding": [
        {
          "system": "http://snomed.info/sct",
          "code": "169565003",
          "display": "Pregnant - planned (finding)"
        }
      ]
    }
  ],
  "note": [
    {
      "text": "The <b>Organization Prenatal Carrier Screen</b> utilizes sequencing, maximizing coverage across all DNA regions tested, to help you learn about your chance to have a child with a genetic disease."
    }
  ]
}