NHS North West Genomics
2.2.0 - ci-build United Kingdom flag

NHS North West Genomics - Local Development build (v2.2.0) built by the FHIR (HL7® FHIR® Standard) Build Tools. See the Directory of published versions

: OMICS DSS ctDNA Test Results (R01)

Raw json | Download

{
  "resourceType" : "Bundle",
  "id" : "ctdna9737383222-testresults",
  "meta" : {
    "profile" : [
      🔗 "https://fhir.nwgenomics.nhs.uk/StructureDefinition/BundleMessage"
    ]
  },
  "language" : "en",
  "identifier" : {
    "value" : "urn:uuid:5adedb78-2232-417b-8563-5e14f83126b0"
  },
  "type" : "message",
  "timestamp" : "2026-08-27T09:41:20+00:00",
  "entry" : [
    {
      "fullUrl" : "urn:uuid:445c5d5b-c51d-4e4e-a6a9-b6280c24a1e3",
      "resource" : {
        "resourceType" : "MessageHeader",
        "language" : "en",
        "text" : {
          "status" : "generated",
          "div" : "<div xmlns=\"http://www.w3.org/1999/xhtml\"><a name=\"MessageHeader_null\"> </a><p class=\"res-header-id\"><b>Generated Narrative: MessageHeader </b></p><p><b>event</b>: <a href=\"http://terminology.hl7.org/7.3.0/CodeSystem-v2-0003.html#v2-0003-R01\">event: R01</a> (ORU/ACK - Unsolicited transmission of an observation message)</p><h3>Destinations</h3><table class=\"grid\"><tr><td style=\"display: none\">-</td><td><b>Endpoint</b></td><td><b>Receiver</b></td></tr><tr><td style=\"display: none\">*</td><td><a href=\"https://simplifier.net/resolve?scope=fhir.r4.ukcore.stu3.currentbuild@0.29.0-pre-release&amp;canonical=https://fhir.nwgenomics.nhs.uk/Endpoint/EPR\">https://fhir.nwgenomics.nhs.uk/Endpoint/EPR</a></td><td>Identifier: <a href=\"NamingSystem-ods-organization-code-namingsystem.html\" title=\"The identifier system for an Organisation registered with the Organisation Data Service (ODS).\">ODS Organisation Code</a>/RR8</td></tr></table><p><b>sender</b>: Identifier: <a href=\"NamingSystem-ods-organization-code-namingsystem.html\" title=\"The identifier system for an Organisation registered with the Organisation Data Service (ODS).\">ODS Organisation Code</a>/699X0</p><h3>Sources</h3><table class=\"grid\"><tr><td style=\"display: none\">-</td><td><b>Software</b></td><td><b>Endpoint</b></td></tr><tr><td style=\"display: none\">*</td><td>NW GLH</td><td><a href=\"https://simplifier.net/resolve?scope=fhir.r4.ukcore.stu3.currentbuild@0.29.0-pre-release&amp;canonical=https://fhir.nwgenomics.nhs.uk/Endpoint/HIVE\">https://fhir.nwgenomics.nhs.uk/Endpoint/HIVE</a></td></tr></table><p><b>focus</b>: <a href=\"Bundle-ctdna9737383222-testresults.html#urn-uuid-f3244cdf-95d8-4124-a026-46417a4fcf19\">Diagnostic Report for 'PACKAGE: M4.14 - Non-Small Cell Lung Cancer, Multi-target ctDNA combined Multi-target NGS panel - small variant (EGFR, ALK, BRAF, KRAS, MET exon 14 skipping and copy number variations) and structural variant (ROS1, RET, ALK, NTRK1, NTRK2, NTRK3, MET exon' for '-&gt;Rob LEEDS  Male, DoB: 1978-01-17 ( National Health Plan Identifier)'</a></p></div>"
        },
        "eventCoding" : {
          "system" : "http://terminology.hl7.org/CodeSystem/v2-0003",
          "code" : "R01"
        },
        "destination" : [
          {
            "endpoint" : "https://fhir.nwgenomics.nhs.uk/Endpoint/EPR",
            "receiver" : {
              "identifier" : {
                "system" : "https://fhir.nhs.uk/Id/ods-organization-code",
                "value" : "RR8"
              }
            }
          }
        ],
        "sender" : {
          "identifier" : {
            "system" : "https://fhir.nhs.uk/Id/ods-organization-code",
            "value" : "699X0"
          }
        },
        "source" : {
          "software" : "NW GLH",
          "endpoint" : "https://fhir.nwgenomics.nhs.uk/Endpoint/HIVE"
        },
        "focus" : [
          {
            "reference" : "urn:uuid:f3244cdf-95d8-4124-a026-46417a4fcf19"
          }
        ]
      }
    },
    {
      "fullUrl" : "urn:uuid:5ee15fbb-5332-41df-a6dc-a8d1be8f9fcb",
      "resource" : {
        "resourceType" : "Patient",
        "language" : "en",
        "text" : {
          "status" : "generated",
          "div" : "<div xmlns=\"http://www.w3.org/1999/xhtml\"><a name=\"Patient_null\"> </a><p class=\"res-header-id\"><b>Generated Narrative: Patient </b></p><p style=\"border: 1px #661aff solid; background-color: #e6e6ff; padding: 10px;\">Rob LEEDS  Male, DoB: 1978-01-17 ( National Health Plan Identifier)</p><hr/><table class=\"grid\"><tr><td style=\"background-color: #f3f5da\" title=\"Other Id (see the one above)\">Other Id:</td><td colspan=\"3\">Medical record number/RXR0817610</td></tr><tr><td style=\"background-color: #f3f5da\" title=\"Ways to contact the Patient\">Contact Detail</td><td colspan=\"3\">LS1 3EX </td></tr></table></div>"
        },
        "identifier" : [
          {
            "type" : {
              "coding" : [
                {
                  "system" : "http://terminology.hl7.org/CodeSystem/v2-0203",
                  "code" : "NH"
                }
              ]
            },
            "system" : "https://fhir.nhs.uk/Id/nhs-number",
            "value" : "9737383222"
          },
          {
            "type" : {
              "coding" : [
                {
                  "system" : "http://terminology.hl7.org/CodeSystem/v2-0203",
                  "code" : "MR"
                }
              ]
            },
            "value" : "RXR0817610",
            "assigner" : {
              "identifier" : {
                "system" : "https://fhir.nhs.uk/Id/ods-organization-code",
                "value" : "RR8"
              }
            }
          }
        ],
        "name" : [
          {
            "family" : "LEEDS",
            "given" : [
              "Rob"
            ]
          }
        ],
        "gender" : "male",
        "birthDate" : "1978-01-17",
        "address" : [
          {
            "postalCode" : "LS1 3EX"
          }
        ]
      }
    },
    {
      "fullUrl" : "urn:uuid:6f531758-c13f-4107-b15a-9d3f4b83a6e5",
      "resource" : {
        "resourceType" : "Encounter",
        "language" : "en",
        "text" : {
          "status" : "generated",
          "div" : "<div xmlns=\"http://www.w3.org/1999/xhtml\"><a name=\"Encounter_null\"> </a><p class=\"res-header-id\"><b>Generated Narrative: Encounter </b></p><p><b>identifier</b>: Account number/SP26-01847</p><p><b>status</b>: Finished</p><p><b>class</b>: <a href=\"http://terminology.hl7.org/7.3.0/CodeSystem-v3-ActCode.html#v3-ActCode-OBSENC\">ActCode: OBSENC</a> (observation encounter)</p><p><b>subject</b>: <a href=\"Bundle-ctdna9737383222-testresults.html#urn-uuid-5ee15fbb-5332-41df-a6dc-a8d1be8f9fcb\">Rob LEEDS  Male, DoB: 1978-01-17 ( National Health Plan Identifier)</a></p></div>"
        },
        "identifier" : [
          {
            "type" : {
              "coding" : [
                {
                  "system" : "http://terminology.hl7.org/CodeSystem/v2-0203",
                  "code" : "AN"
                }
              ]
            },
            "value" : "SP26-01847"
          }
        ],
        "status" : "finished",
        "class" : {
          "system" : "http://terminology.hl7.org/CodeSystem/v3-ActCode",
          "code" : "OBSENC"
        },
        "subject" : {
          "reference" : "urn:uuid:5ee15fbb-5332-41df-a6dc-a8d1be8f9fcb",
          "identifier" : {
            "type" : {
              "coding" : [
                {
                  "system" : "http://terminology.hl7.org/CodeSystem/v2-0203",
                  "code" : "NH"
                }
              ]
            },
            "system" : "https://fhir.nhs.uk/Id/nhs-number",
            "value" : "9737383222"
          }
        }
      }
    },
    {
      "fullUrl" : "urn:uuid:3e221516-d8e9-46c7-9756-d3f948dfe607",
      "resource" : {
        "resourceType" : "Organization",
        "language" : "en",
        "text" : {
          "status" : "generated",
          "div" : "<div xmlns=\"http://www.w3.org/1999/xhtml\"><a name=\"Organization_null\"> </a><p class=\"res-header-id\"><b>Generated Narrative: Organization </b></p><p><b>identifier</b>: <a href=\"NamingSystem-ods-organization-code-namingsystem.html\" title=\"The identifier system for an Organisation registered with the Organisation Data Service (ODS).\">ODS Organisation Code</a>/699X0</p><p><b>name</b>: NHS North West Genomics</p></div>"
        },
        "identifier" : [
          {
            "system" : "https://fhir.nhs.uk/Id/ods-organization-code",
            "value" : "699X0"
          }
        ],
        "name" : "NHS North West Genomics"
      }
    },
    {
      "fullUrl" : "urn:uuid:66446ddf-e567-4f0a-9964-c46ae4f3153e",
      "resource" : {
        "resourceType" : "ServiceRequest",
        "language" : "en",
        "text" : {
          "status" : "generated",
          "div" : "<div xmlns=\"http://www.w3.org/1999/xhtml\"><a name=\"ServiceRequest_null\"> </a><p class=\"res-header-id\"><b>Generated Narrative: ServiceRequest </b></p><p><b>identifier</b>: Placer Identifier/1234-RR8, Filler Identifier/T26-59X2</p><p><b>status</b>: Completed</p><p><b>intent</b>: Order</p><p><b>category</b>: <span title=\"Codes:{http://snomed.info/sct 116148004}\">Molecular genetics procedure</span></p><p><b>code</b>: <span title=\"Codes:{https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory M4.14}\">Non-Small Cell Lung Cancer, Multi-target ctDNA combined Multi-target NGS panel - small variant (EGFR, ALK, BRAF, KRAS, MET exon 14 skipping and copy number variations) and structural variant (ROS1, RET, ALK, NTRK1, NTRK2, NTRK3, MET exon 14 skipping)</span></p><p><b>subject</b>: <a href=\"Bundle-ctdna9737383222-testresults.html#urn-uuid-5ee15fbb-5332-41df-a6dc-a8d1be8f9fcb\">Rob LEEDS  Male, DoB: 1978-01-17 ( National Health Plan Identifier)</a></p><p><b>encounter</b>: <a href=\"Bundle-ctdna9737383222-testresults.html#urn-uuid-6f531758-c13f-4107-b15a-9d3f4b83a6e5\">Encounter: identifier = Account number; status = finished; class = observation encounter (ActCode#OBSENC)</a></p><p><b>requester</b>: Leeds Teaching Hospitals NHS Trust (Identifier: <a href=\"NamingSystem-ods-organization-code-namingsystem.html\" title=\"The identifier system for an Organisation registered with the Organisation Data Service (ODS).\">ODS Organisation Code</a>/RR8)</p><p><b>reasonCode</b>: <span title=\"Codes:{https://fhir.nwgenomics.nhs.uk/CodeSystem/GenomicClinicalIndication M4}\">Non-Small Cell Lung Cancer</span></p></div>"
        },
        "identifier" : [
          {
            "type" : {
              "coding" : [
                {
                  "system" : "http://terminology.hl7.org/CodeSystem/v2-0203",
                  "code" : "PLAC"
                }
              ]
            },
            "value" : "1234-RR8",
            "assigner" : {
              "identifier" : {
                "system" : "https://fhir.nhs.uk/Id/ods-organization-code",
                "value" : "RR8"
              }
            }
          },
          {
            "type" : {
              "coding" : [
                {
                  "system" : "http://terminology.hl7.org/CodeSystem/v2-0203",
                  "code" : "FILL"
                }
              ]
            },
            "system" : "https://fhir.nwgenomics.nhs.uk/iGene/ReportIdentifier",
            "value" : "T26-59X2",
            "assigner" : {
              "identifier" : {
                "system" : "https://fhir.nhs.uk/Id/ods-organization-code",
                "value" : "699X0"
              }
            }
          }
        ],
        "status" : "completed",
        "intent" : "order",
        "category" : [
          {
            "coding" : [
              {
                "system" : "http://snomed.info/sct",
                "code" : "116148004"
              }
            ]
          }
        ],
        "code" : {
          "coding" : [
            {
              "system" : "https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory",
              "code" : "M4.14"
            }
          ]
        },
        "subject" : {
          "reference" : "urn:uuid:5ee15fbb-5332-41df-a6dc-a8d1be8f9fcb",
          "identifier" : {
            "type" : {
              "coding" : [
                {
                  "system" : "http://terminology.hl7.org/CodeSystem/v2-0203",
                  "code" : "NH"
                }
              ]
            },
            "system" : "https://fhir.nhs.uk/Id/nhs-number",
            "value" : "9737383222"
          }
        },
        "encounter" : {
          "reference" : "urn:uuid:6f531758-c13f-4107-b15a-9d3f4b83a6e5",
          "identifier" : {
            "type" : {
              "coding" : [
                {
                  "system" : "http://terminology.hl7.org/CodeSystem/v2-0203",
                  "code" : "AN"
                }
              ]
            },
            "value" : "SP26-01847"
          }
        },
        "requester" : {
          "type" : "Organization",
          "identifier" : {
            "system" : "https://fhir.nhs.uk/Id/ods-organization-code",
            "value" : "RR8"
          },
          "display" : "Leeds Teaching Hospitals NHS Trust"
        },
        "reasonCode" : [
          {
            "coding" : [
              {
                "system" : "https://fhir.nwgenomics.nhs.uk/CodeSystem/GenomicClinicalIndication",
                "code" : "M4"
              }
            ]
          }
        ]
      }
    },
    {
      "fullUrl" : "urn:uuid:2327bef8-dff6-4511-970b-0230095a2fef",
      "resource" : {
        "resourceType" : "Observation",
        "id" : "ctdna9737383222-seqv1",
        "meta" : {
          "profile" : [
            🔗 "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/variant"
          ]
        },
        "language" : "en",
        "text" : {
          "status" : "generated",
          "div" : "<div xmlns=\"http://www.w3.org/1999/xhtml\"><a name=\"Observation_ctdna9737383222-seqv1\"> </a><p class=\"res-header-id\"><b>Generated Narrative: Observation ctdna9737383222-seqv1</b></p><a name=\"ctdna9737383222-seqv1\"> </a><a name=\"hcctdna9737383222-seqv1\"> </a><div style=\"display: inline-block; background-color: #d9e0e7; padding: 6px; margin: 4px; border: 1px solid #8da1b4; border-radius: 5px; line-height: 60%\"><p style=\"margin-bottom: 0px\"/><p style=\"margin-bottom: 0px\">Profile: <a href=\"http://hl7.org/fhir/uv/genomics-reporting/STU3/StructureDefinition-variant.html\">Variant</a></p></div><p><b>status</b>: Final</p><p><b>category</b>: <span title=\"Codes:{http://terminology.hl7.org/CodeSystem/observation-category laboratory}\">Laboratory</span>, <span title=\"Codes:{http://terminology.hl7.org/CodeSystem/v2-0074 GE}\">Genetics</span></p><p><b>code</b>: <span title=\"Codes:{http://loinc.org 69548-6}\">Genetic variant assessment</span></p><p><b>subject</b>: <a href=\"Bundle-ctdna9737383222-testresults.html#urn-uuid-5ee15fbb-5332-41df-a6dc-a8d1be8f9fcb\">Rob LEEDS  Male, DoB: 1978-01-17 ( National Health Plan Identifier)</a></p><p><b>effective</b>: 2026-07-14 15:59:16+0000</p><p><b>performer</b>: <a href=\"Bundle-ctdna9737383222-testresults.html#urn-uuid-3e221516-d8e9-46c7-9756-d3f948dfe607\">Organization NHS North West Genomics</a></p><p><b>value</b>: <span title=\"Codes:{http://loinc.org LA9633-4}\">Present</span></p><p><b>method</b>: <span title=\"Codes:{http://loinc.org LA26398-0}\">Sequencing</span></p><blockquote><p><b>component</b></p><p><b>code</b>: <span title=\"Codes:{http://loinc.org 48018-6}\">Gene studied [ID]</span></p><p><b>value</b>: <span title=\"Codes:{http://www.genenames.org HGNC:1100}\">BRCA1</span></p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: <span title=\"Codes:{http://loinc.org 48002-0}\">Genomic source class [Type]</span></p><p><b>value</b>: <span title=\"Codes:{http://loinc.org LA6683-2}\">Germline</span></p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: <span title=\"Codes:{http://loinc.org 48013-7}\">Genomic reference sequence [ID]</span></p><p><b>value</b>: <span title=\"Codes:{http://www.ncbi.nlm.nih.gov/refseq NC_000017.10}\">NC_000017.10</span></p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: <span title=\"Codes:{http://loinc.org 92822-6}\">Genomic coordinate system [Type]</span></p><p><b>value</b>: <span title=\"Codes:{http://loinc.org LA30102-0}\">1-based character counting</span></p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: <span title=\"Codes:{http://loinc.org 69547-8}\">Genomic ref allele [ID]</span></p><p><b>value</b>: TCT</p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: <span title=\"Codes:{http://loinc.org 69551-0}\">Genomic alt allele [ID]</span></p><p><b>value</b>: T</p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: <span title=\"Codes:{http://loinc.org 48019-4}\">DNA change type</span></p><p><b>value</b>: <span title=\"Codes:{http://www.sequenceontology.org SO:0000159}\">deletion</span></p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: <span title=\"Codes:{http://loinc.org 51958-7}\">Transcript reference sequence [ID]</span></p><p><b>value</b>: <span title=\"Codes:{http://www.ncbi.nlm.nih.gov/refseq NM_007294.3}\">NM_007294.3</span></p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: <span title=\"Codes:{http://loinc.org 48004-6}\">DNA change (c.HGVS)</span></p><p><b>value</b>: <span title=\"Codes:{http://varnomen.hgvs.org NM_007294.3(BRCA1):c.68_69del}\">NM_007294.3(BRCA1):c.68_69del</span></p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: <span title=\"Codes:{http://loinc.org 48005-3}\">Amino acid change (pHGVS)</span></p><p><b>value</b>: <span title=\"Codes:{http://varnomen.hgvs.org p.(Glu23ValfsTer17)}\">p.(Glu23ValfsTer17)</span></p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: <span title=\"Codes:{http://loinc.org 81290-9}\">Genomic DNA change (gHGVS)</span></p><p><b>value</b>: <span title=\"Codes:{http://varnomen.hgvs.org g.41276047_41276048del}\">g.41276047_41276048del</span></p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: <span title=\"Codes:{http://loinc.org 53037-8}\">Genetic variation clinical significance [Imp]</span></p><p><b>value</b>: <span title=\"Codes:\">Pathogenic</span></p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: <span title=\"Codes:{http://loinc.org 94186-4}\">Origin of germline genetic variant [Type]</span></p><p><b>value</b>: <span title=\"Codes:{http://loinc.org LA26320-4}\">Maternal</span></p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: <span title=\"Codes:{http://loinc.org 81254-5}\">Genomic allele start-end</span></p><p><b>value</b>: 41276046-?</p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: <span title=\"Codes:{http://loinc.org 81258-6}\">Sample variant allelic frequency</span></p><p><b>value</b>: 0.33 decimal</p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: <span title=\"Codes:{http://loinc.org 53034-5}\">Allelic state</span></p><p><b>value</b>: <span title=\"Codes:{http://loinc.org LA6706-1}\">heterozygous</span></p></blockquote></div>"
        },
        "status" : "final",
        "category" : [
          {
            "coding" : [
              {
                "system" : "http://terminology.hl7.org/CodeSystem/observation-category",
                "code" : "laboratory"
              }
            ]
          },
          {
            "coding" : [
              {
                "system" : "http://terminology.hl7.org/CodeSystem/v2-0074",
                "code" : "GE"
              }
            ]
          }
        ],
        "code" : {
          "coding" : [
            {
              "system" : "http://loinc.org",
              "code" : "69548-6",
              "display" : "Genetic variant assessment"
            }
          ]
        },
        "subject" : {
          "reference" : "urn:uuid:5ee15fbb-5332-41df-a6dc-a8d1be8f9fcb"
        },
        "effectiveDateTime" : "2026-07-14T15:59:16+00:00",
        "performer" : [
          {
            "reference" : "urn:uuid:3e221516-d8e9-46c7-9756-d3f948dfe607"
          }
        ],
        "valueCodeableConcept" : {
          "coding" : [
            {
              "system" : "http://loinc.org",
              "code" : "LA9633-4",
              "display" : "Present"
            }
          ]
        },
        "method" : {
          "coding" : [
            {
              "system" : "http://loinc.org",
              "code" : "LA26398-0",
              "display" : "Sequencing"
            }
          ]
        },
        "component" : [
          {
            "code" : {
              "coding" : [
                {
                  "system" : "http://loinc.org",
                  "code" : "48018-6",
                  "display" : "Gene studied [ID]"
                }
              ]
            },
            "valueCodeableConcept" : {
              "coding" : [
                {
                  "system" : "http://www.genenames.org",
                  "code" : "HGNC:1100",
                  "display" : "BRCA1"
                }
              ]
            }
          },
          {
            "code" : {
              "coding" : [
                {
                  "system" : "http://loinc.org",
                  "code" : "48002-0",
                  "display" : "Genomic source class [Type]"
                }
              ]
            },
            "valueCodeableConcept" : {
              "coding" : [
                {
                  "system" : "http://loinc.org",
                  "code" : "LA6683-2",
                  "display" : "Germline"
                }
              ]
            }
          },
          {
            "code" : {
              "coding" : [
                {
                  "system" : "http://loinc.org",
                  "code" : "48013-7",
                  "display" : "Genomic reference sequence [ID]"
                }
              ]
            },
            "valueCodeableConcept" : {
              "coding" : [
                {
                  "system" : "http://www.ncbi.nlm.nih.gov/refseq",
                  "code" : "NC_000017.10"
                }
              ]
            }
          },
          {
            "code" : {
              "coding" : [
                {
                  "system" : "http://loinc.org",
                  "code" : "92822-6",
                  "display" : "Genomic coordinate system [Type]"
                }
              ]
            },
            "valueCodeableConcept" : {
              "coding" : [
                {
                  "system" : "http://loinc.org",
                  "code" : "LA30102-0",
                  "display" : "1-based character counting"
                }
              ]
            }
          },
          {
            "code" : {
              "coding" : [
                {
                  "system" : "http://loinc.org",
                  "code" : "69547-8",
                  "display" : "Genomic ref allele [ID]"
                }
              ]
            },
            "valueString" : "TCT"
          },
          {
            "code" : {
              "coding" : [
                {
                  "system" : "http://loinc.org",
                  "code" : "69551-0",
                  "display" : "Genomic alt allele [ID]"
                }
              ]
            },
            "valueString" : "T"
          },
          {
            "code" : {
              "coding" : [
                {
                  "system" : "http://loinc.org",
                  "code" : "48019-4",
                  "display" : "DNA change type"
                }
              ]
            },
            "valueCodeableConcept" : {
              "coding" : [
                {
                  "system" : "http://www.sequenceontology.org",
                  "code" : "SO:0000159",
                  "display" : "deletion"
                }
              ]
            }
          },
          {
            "code" : {
              "coding" : [
                {
                  "system" : "http://loinc.org",
                  "code" : "51958-7",
                  "display" : "Transcript reference sequence [ID]"
                }
              ]
            },
            "valueCodeableConcept" : {
              "coding" : [
                {
                  "system" : "http://www.ncbi.nlm.nih.gov/refseq",
                  "code" : "NM_007294.3"
                }
              ]
            }
          },
          {
            "code" : {
              "coding" : [
                {
                  "system" : "http://loinc.org",
                  "code" : "48004-6",
                  "display" : "DNA change (c.HGVS)"
                }
              ]
            },
            "valueCodeableConcept" : {
              "coding" : [
                {
                  "system" : "http://varnomen.hgvs.org",
                  "code" : "NM_007294.3(BRCA1):c.68_69del"
                }
              ]
            }
          },
          {
            "code" : {
              "coding" : [
                {
                  "system" : "http://loinc.org",
                  "code" : "48005-3",
                  "display" : "Amino acid change (pHGVS)"
                }
              ]
            },
            "valueCodeableConcept" : {
              "coding" : [
                {
                  "system" : "http://varnomen.hgvs.org",
                  "code" : "p.(Glu23ValfsTer17)"
                }
              ]
            }
          },
          {
            "code" : {
              "coding" : [
                {
                  "system" : "http://loinc.org",
                  "code" : "81290-9",
                  "display" : "Genomic DNA change (gHGVS)"
                }
              ]
            },
            "valueCodeableConcept" : {
              "coding" : [
                {
                  "system" : "http://varnomen.hgvs.org",
                  "code" : "g.41276047_41276048del"
                }
              ]
            }
          },
          {
            "code" : {
              "coding" : [
                {
                  "system" : "http://loinc.org",
                  "code" : "53037-8",
                  "display" : "Genetic variation clinical significance [Imp]"
                }
              ]
            },
            "valueCodeableConcept" : {
              "text" : "Pathogenic"
            }
          },
          {
            "code" : {
              "coding" : [
                {
                  "system" : "http://loinc.org",
                  "code" : "94186-4",
                  "display" : "Origin of germline genetic variant [Type]"
                }
              ]
            },
            "valueCodeableConcept" : {
              "coding" : [
                {
                  "system" : "http://loinc.org",
                  "code" : "LA26320-4",
                  "display" : "Maternal"
                }
              ]
            }
          },
          {
            "code" : {
              "coding" : [
                {
                  "system" : "http://loinc.org",
                  "code" : "81254-5",
                  "display" : "Genomic allele start-end"
                }
              ]
            },
            "valueRange" : {
              "low" : {
                "value" : 41276046
              }
            }
          },
          {
            "code" : {
              "coding" : [
                {
                  "system" : "http://loinc.org",
                  "code" : "81258-6",
                  "display" : "Sample variant allelic frequency"
                }
              ]
            },
            "valueQuantity" : {
              "value" : 0.33,
              "unit" : "decimal",
              "system" : "http://unitsofmeasure.org"
            }
          },
          {
            "code" : {
              "coding" : [
                {
                  "system" : "http://loinc.org",
                  "code" : "53034-5",
                  "display" : "Allelic state"
                }
              ]
            },
            "valueCodeableConcept" : {
              "coding" : [
                {
                  "system" : "http://loinc.org",
                  "code" : "LA6706-1",
                  "display" : "heterozygous"
                }
              ]
            }
          }
        ]
      }
    },
    {
      "fullUrl" : "urn:uuid:5e1692e3-7e9a-4bc2-b429-17c2e1b7cbec",
      "resource" : {
        "resourceType" : "Observation",
        "id" : "ctdna9737383222-icnv1",
        "meta" : {
          "profile" : [
            🔗 "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/variant"
          ]
        },
        "language" : "en",
        "text" : {
          "status" : "generated",
          "div" : "<div xmlns=\"http://www.w3.org/1999/xhtml\"><a name=\"Observation_ctdna9737383222-icnv1\"> </a><p class=\"res-header-id\"><b>Generated Narrative: Observation ctdna9737383222-icnv1</b></p><a name=\"ctdna9737383222-icnv1\"> </a><a name=\"hcctdna9737383222-icnv1\"> </a><div style=\"display: inline-block; background-color: #d9e0e7; padding: 6px; margin: 4px; border: 1px solid #8da1b4; border-radius: 5px; line-height: 60%\"><p style=\"margin-bottom: 0px\"/><p style=\"margin-bottom: 0px\">Profile: <a href=\"http://hl7.org/fhir/uv/genomics-reporting/STU3/StructureDefinition-variant.html\">Variant</a></p></div><p><b>status</b>: Final</p><p><b>category</b>: <span title=\"Codes:{http://terminology.hl7.org/CodeSystem/observation-category laboratory}\">Laboratory</span>, <span title=\"Codes:{http://terminology.hl7.org/CodeSystem/v2-0074 GE}\">Genetics</span></p><p><b>code</b>: <span title=\"Codes:{http://loinc.org 69548-6}\">Genetic variant assessment</span></p><p><b>subject</b>: <a href=\"Bundle-ctdna9737383222-testresults.html#urn-uuid-5ee15fbb-5332-41df-a6dc-a8d1be8f9fcb\">Rob LEEDS  Male, DoB: 1978-01-17 ( National Health Plan Identifier)</a></p><p><b>effective</b>: 2026-07-14 15:59:16+0000</p><p><b>performer</b>: <a href=\"Bundle-ctdna9737383222-testresults.html#urn-uuid-3e221516-d8e9-46c7-9756-d3f948dfe607\">Organization NHS North West Genomics</a></p><p><b>value</b>: <span title=\"Codes:{http://loinc.org LA9633-4}\">Present</span></p><p><b>method</b>: <span title=\"Codes:{http://loinc.org LA26398-0}\">Sequencing</span></p><blockquote><p><b>component</b></p><p><b>code</b>: <span title=\"Codes:{http://loinc.org 48018-6}\">Gene studied [ID]</span></p><p><b>value</b>: <span title=\"Codes:{http://www.genenames.org HGNC:3603}\">FBN1</span></p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: <span title=\"Codes:{http://loinc.org 48002-0}\">Genomic source class [Type]</span></p><p><b>value</b>: <span title=\"Codes:{http://loinc.org LA6683-2}\">Germline</span></p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: <span title=\"Codes:{http://loinc.org 48013-7}\">Genomic reference sequence [ID]</span></p><p><b>value</b>: <span title=\"Codes:{http://www.ncbi.nlm.nih.gov/refseq NC_000015.9}\">NC_000015.9</span></p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: <span title=\"Codes:{http://loinc.org 92822-6}\">Genomic coordinate system [Type]</span></p><p><b>value</b>: <span title=\"Codes:{http://loinc.org LA30102-0}\">1-based character counting</span></p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: <span title=\"Codes:{http://loinc.org 69547-8}\">Genomic ref allele [ID]</span></p><p><b>value</b>: C</p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: <span title=\"Codes:{http://loinc.org 69551-0}\">Genomic alt allele [ID]</span></p><p><b>value</b>: &lt;DEL&gt;</p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: <span title=\"Codes:{http://loinc.org 48019-4}\">DNA change type</span></p><p><b>value</b>: <span title=\"Codes:{http://www.sequenceontology.org SO:0001019}\">copy_number_variation</span></p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: <span title=\"Codes:{http://loinc.org 51958-7}\">Transcript reference sequence [ID]</span></p><p><b>value</b>: <span title=\"Codes:{http://www.ncbi.nlm.nih.gov/refseq NM_000138.4}\">NM_000138.4</span></p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: <span title=\"Codes:{http://loinc.org 48004-6}\">DNA change (c.HGVS)</span></p><p><b>value</b>: <span title=\"Codes:{http://varnomen.hgvs.org NM_000138.4(FBN1):exon13_to_exon15del}\">NM_000138.4(FBN1):exon13_to_exon15del</span></p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: <span title=\"Codes:{http://loinc.org 81290-9}\">Genomic DNA change (gHGVS)</span></p><p><b>value</b>: <span title=\"Codes:{http://varnomen.hgvs.org g.48797222_48802366del}\">g.48797222_48802366del</span></p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: <span title=\"Codes:{http://loinc.org 53037-8}\">Genetic variation clinical significance [Imp]</span></p><p><b>value</b>: <span title=\"Codes:\">Pathogenic</span></p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: <span title=\"Codes:{http://loinc.org 94186-4}\">Origin of germline genetic variant [Type]</span></p><p><b>value</b>: <span title=\"Codes:{http://loinc.org LA26320-4}\">Maternal</span></p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: <span title=\"Codes:{http://loinc.org 81302-2}\">Structural variant inner start and end</span></p><p><b>value</b>: 48797221-48802366</p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: <span title=\"Codes:{http://loinc.org 81258-6}\">Sample variant allelic frequency</span></p><p><b>value</b>: 0.33 decimal</p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: <span title=\"Codes:{http://loinc.org 82155-3}\">Genomic structural variant copy number</span></p><p><b>value</b>: 1 1<span style=\"background: LightGoldenRodYellow\"> (Details: UCUM  code1 = '1')</span></p></blockquote></div>"
        },
        "status" : "final",
        "category" : [
          {
            "coding" : [
              {
                "system" : "http://terminology.hl7.org/CodeSystem/observation-category",
                "code" : "laboratory"
              }
            ]
          },
          {
            "coding" : [
              {
                "system" : "http://terminology.hl7.org/CodeSystem/v2-0074",
                "code" : "GE"
              }
            ]
          }
        ],
        "code" : {
          "coding" : [
            {
              "system" : "http://loinc.org",
              "code" : "69548-6",
              "display" : "Genetic variant assessment"
            }
          ]
        },
        "subject" : {
          "reference" : "urn:uuid:5ee15fbb-5332-41df-a6dc-a8d1be8f9fcb"
        },
        "effectiveDateTime" : "2026-07-14T15:59:16+00:00",
        "performer" : [
          {
            "reference" : "urn:uuid:3e221516-d8e9-46c7-9756-d3f948dfe607"
          }
        ],
        "valueCodeableConcept" : {
          "coding" : [
            {
              "system" : "http://loinc.org",
              "code" : "LA9633-4",
              "display" : "Present"
            }
          ]
        },
        "method" : {
          "coding" : [
            {
              "system" : "http://loinc.org",
              "code" : "LA26398-0",
              "display" : "Sequencing"
            }
          ]
        },
        "component" : [
          {
            "code" : {
              "coding" : [
                {
                  "system" : "http://loinc.org",
                  "code" : "48018-6",
                  "display" : "Gene studied [ID]"
                }
              ]
            },
            "valueCodeableConcept" : {
              "coding" : [
                {
                  "system" : "http://www.genenames.org",
                  "code" : "HGNC:3603",
                  "display" : "FBN1"
                }
              ]
            }
          },
          {
            "code" : {
              "coding" : [
                {
                  "system" : "http://loinc.org",
                  "code" : "48002-0",
                  "display" : "Genomic source class [Type]"
                }
              ]
            },
            "valueCodeableConcept" : {
              "coding" : [
                {
                  "system" : "http://loinc.org",
                  "code" : "LA6683-2",
                  "display" : "Germline"
                }
              ]
            }
          },
          {
            "code" : {
              "coding" : [
                {
                  "system" : "http://loinc.org",
                  "code" : "48013-7",
                  "display" : "Genomic reference sequence [ID]"
                }
              ]
            },
            "valueCodeableConcept" : {
              "coding" : [
                {
                  "system" : "http://www.ncbi.nlm.nih.gov/refseq",
                  "code" : "NC_000015.9"
                }
              ]
            }
          },
          {
            "code" : {
              "coding" : [
                {
                  "system" : "http://loinc.org",
                  "code" : "92822-6",
                  "display" : "Genomic coordinate system [Type]"
                }
              ]
            },
            "valueCodeableConcept" : {
              "coding" : [
                {
                  "system" : "http://loinc.org",
                  "code" : "LA30102-0",
                  "display" : "1-based character counting"
                }
              ]
            }
          },
          {
            "code" : {
              "coding" : [
                {
                  "system" : "http://loinc.org",
                  "code" : "69547-8",
                  "display" : "Genomic ref allele [ID]"
                }
              ]
            },
            "valueString" : "C"
          },
          {
            "code" : {
              "coding" : [
                {
                  "system" : "http://loinc.org",
                  "code" : "69551-0",
                  "display" : "Genomic alt allele [ID]"
                }
              ]
            },
            "valueString" : "<DEL>"
          },
          {
            "code" : {
              "coding" : [
                {
                  "system" : "http://loinc.org",
                  "code" : "48019-4",
                  "display" : "DNA change type"
                }
              ]
            },
            "valueCodeableConcept" : {
              "coding" : [
                {
                  "system" : "http://www.sequenceontology.org",
                  "code" : "SO:0001019",
                  "display" : "copy_number_variation"
                }
              ]
            }
          },
          {
            "code" : {
              "coding" : [
                {
                  "system" : "http://loinc.org",
                  "code" : "51958-7",
                  "display" : "Transcript reference sequence [ID]"
                }
              ]
            },
            "valueCodeableConcept" : {
              "coding" : [
                {
                  "system" : "http://www.ncbi.nlm.nih.gov/refseq",
                  "code" : "NM_000138.4"
                }
              ]
            }
          },
          {
            "code" : {
              "coding" : [
                {
                  "system" : "http://loinc.org",
                  "code" : "48004-6",
                  "display" : "DNA change (c.HGVS)"
                }
              ]
            },
            "valueCodeableConcept" : {
              "coding" : [
                {
                  "system" : "http://varnomen.hgvs.org",
                  "code" : "NM_000138.4(FBN1):exon13_to_exon15del"
                }
              ]
            }
          },
          {
            "code" : {
              "coding" : [
                {
                  "system" : "http://loinc.org",
                  "code" : "81290-9",
                  "display" : "Genomic DNA change (gHGVS)"
                }
              ]
            },
            "valueCodeableConcept" : {
              "coding" : [
                {
                  "system" : "http://varnomen.hgvs.org",
                  "code" : "g.48797222_48802366del"
                }
              ]
            }
          },
          {
            "code" : {
              "coding" : [
                {
                  "system" : "http://loinc.org",
                  "code" : "53037-8",
                  "display" : "Genetic variation clinical significance [Imp]"
                }
              ]
            },
            "valueCodeableConcept" : {
              "text" : "Pathogenic"
            }
          },
          {
            "code" : {
              "coding" : [
                {
                  "system" : "http://loinc.org",
                  "code" : "94186-4",
                  "display" : "Origin of germline genetic variant [Type]"
                }
              ]
            },
            "valueCodeableConcept" : {
              "coding" : [
                {
                  "system" : "http://loinc.org",
                  "code" : "LA26320-4",
                  "display" : "Maternal"
                }
              ]
            }
          },
          {
            "code" : {
              "coding" : [
                {
                  "system" : "http://loinc.org",
                  "code" : "81302-2",
                  "display" : "Structural variant inner start and end"
                }
              ]
            },
            "valueRange" : {
              "low" : {
                "value" : 48797221
              },
              "high" : {
                "value" : 48802366
              }
            }
          },
          {
            "code" : {
              "coding" : [
                {
                  "system" : "http://loinc.org",
                  "code" : "81258-6",
                  "display" : "Sample variant allelic frequency"
                }
              ]
            },
            "valueQuantity" : {
              "value" : 0.33,
              "unit" : "decimal",
              "system" : "http://unitsofmeasure.org"
            }
          },
          {
            "code" : {
              "coding" : [
                {
                  "system" : "http://loinc.org",
                  "code" : "82155-3",
                  "display" : "Genomic structural variant copy number"
                }
              ]
            },
            "valueQuantity" : {
              "value" : 1,
              "system" : "http://unitsofmeasure.org",
              "code" : "1"
            }
          }
        ]
      }
    },
    {
      "fullUrl" : "urn:uuid:5862205e-6077-40b2-8e63-c0a6b9f55984",
      "resource" : {
        "resourceType" : "Observation",
        "id" : "ctdna9737383222-mcnv1",
        "meta" : {
          "profile" : [
            🔗 "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/variant"
          ]
        },
        "language" : "en",
        "text" : {
          "status" : "generated",
          "div" : "<div xmlns=\"http://www.w3.org/1999/xhtml\"><a name=\"Observation_ctdna9737383222-mcnv1\"> </a><p class=\"res-header-id\"><b>Generated Narrative: Observation ctdna9737383222-mcnv1</b></p><a name=\"ctdna9737383222-mcnv1\"> </a><a name=\"hcctdna9737383222-mcnv1\"> </a><div style=\"display: inline-block; background-color: #d9e0e7; padding: 6px; margin: 4px; border: 1px solid #8da1b4; border-radius: 5px; line-height: 60%\"><p style=\"margin-bottom: 0px\"/><p style=\"margin-bottom: 0px\">Profile: <a href=\"http://hl7.org/fhir/uv/genomics-reporting/STU3/StructureDefinition-variant.html\">Variant</a></p></div><p><b>status</b>: Final</p><p><b>category</b>: <span title=\"Codes:{http://terminology.hl7.org/CodeSystem/observation-category laboratory}\">Laboratory</span>, <span title=\"Codes:{http://terminology.hl7.org/CodeSystem/v2-0074 GE}\">Genetics</span></p><p><b>code</b>: <span title=\"Codes:{http://loinc.org 69548-6}\">Genetic variant assessment</span></p><p><b>subject</b>: <a href=\"Bundle-ctdna9737383222-testresults.html#urn-uuid-5ee15fbb-5332-41df-a6dc-a8d1be8f9fcb\">Rob LEEDS  Male, DoB: 1978-01-17 ( National Health Plan Identifier)</a></p><p><b>effective</b>: 2026-07-14 15:59:16+0000</p><p><b>performer</b>: <a href=\"Bundle-ctdna9737383222-testresults.html#urn-uuid-3e221516-d8e9-46c7-9756-d3f948dfe607\">Organization NHS North West Genomics</a></p><p><b>value</b>: <span title=\"Codes:{http://loinc.org LA9633-4}\">Present</span></p><p><b>method</b>: <span title=\"Codes:{http://loinc.org LA26398-0}\">Sequencing</span></p><blockquote><p><b>component</b></p><p><b>code</b>: <span title=\"Codes:{http://loinc.org 48002-0}\">Genomic source class [Type]</span></p><p><b>value</b>: <span title=\"Codes:{http://loinc.org LA6683-2}\">Germline</span></p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: <span title=\"Codes:{http://loinc.org 48013-7}\">Genomic reference sequence [ID]</span></p><p><b>value</b>: <span title=\"Codes:{http://www.ncbi.nlm.nih.gov/refseq NC_000023.10}\">NC_000023.10</span></p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: <span title=\"Codes:{http://loinc.org 92822-6}\">Genomic coordinate system [Type]</span></p><p><b>value</b>: <span title=\"Codes:{http://loinc.org LA30102-0}\">1-based character counting</span></p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: <span title=\"Codes:{http://loinc.org 69547-8}\">Genomic ref allele [ID]</span></p><p><b>value</b>: T</p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: <span title=\"Codes:{http://loinc.org 69551-0}\">Genomic alt allele [ID]</span></p><p><b>value</b>: &lt;DEL&gt;</p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: <span title=\"Codes:{http://loinc.org 48019-4}\">DNA change type</span></p><p><b>value</b>: <span title=\"Codes:{http://www.sequenceontology.org SO:0001019}\">copy_number_variation</span></p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: <span title=\"Codes:{http://loinc.org 81290-9}\">Genomic DNA change (gHGVS)</span></p><p><b>value</b>: <span title=\"Codes:{http://varnomen.hgvs.org g.100652797_153792676del}\">g.100652797_153792676del</span></p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: <span title=\"Codes:{http://loinc.org 48001-2}\">Cytogenetic (chromosome) location</span></p><p><b>value</b>: <span title=\"Codes:\">Xq22.1-q28</span></p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: <span title=\"Codes:{http://loinc.org 53037-8}\">Genetic variation clinical significance [Imp]</span></p><p><b>value</b>: <span title=\"Codes:\">Pathogenic</span></p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: <span title=\"Codes:{http://loinc.org 94186-4}\">Origin of germline genetic variant [Type]</span></p><p><b>value</b>: <span title=\"Codes:{http://loinc.org LA26320-4}\">Maternal</span></p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: <span title=\"Codes:{http://loinc.org 81302-2}\">Structural variant inner start and end</span></p><p><b>value</b>: 100652796-153792676</p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: <span title=\"Codes:{http://loinc.org 81258-6}\">Sample variant allelic frequency</span></p><p><b>value</b>: 0.33 decimal</p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: <span title=\"Codes:{http://loinc.org 82155-3}\">Genomic structural variant copy number</span></p><p><b>value</b>: 1 1<span style=\"background: LightGoldenRodYellow\"> (Details: UCUM  code1 = '1')</span></p></blockquote></div>"
        },
        "status" : "final",
        "category" : [
          {
            "coding" : [
              {
                "system" : "http://terminology.hl7.org/CodeSystem/observation-category",
                "code" : "laboratory"
              }
            ]
          },
          {
            "coding" : [
              {
                "system" : "http://terminology.hl7.org/CodeSystem/v2-0074",
                "code" : "GE"
              }
            ]
          }
        ],
        "code" : {
          "coding" : [
            {
              "system" : "http://loinc.org",
              "code" : "69548-6",
              "display" : "Genetic variant assessment"
            }
          ]
        },
        "subject" : {
          "reference" : "urn:uuid:5ee15fbb-5332-41df-a6dc-a8d1be8f9fcb"
        },
        "effectiveDateTime" : "2026-07-14T15:59:16+00:00",
        "performer" : [
          {
            "reference" : "urn:uuid:3e221516-d8e9-46c7-9756-d3f948dfe607"
          }
        ],
        "valueCodeableConcept" : {
          "coding" : [
            {
              "system" : "http://loinc.org",
              "code" : "LA9633-4",
              "display" : "Present"
            }
          ]
        },
        "method" : {
          "coding" : [
            {
              "system" : "http://loinc.org",
              "code" : "LA26398-0",
              "display" : "Sequencing"
            }
          ]
        },
        "component" : [
          {
            "code" : {
              "coding" : [
                {
                  "system" : "http://loinc.org",
                  "code" : "48002-0",
                  "display" : "Genomic source class [Type]"
                }
              ]
            },
            "valueCodeableConcept" : {
              "coding" : [
                {
                  "system" : "http://loinc.org",
                  "code" : "LA6683-2",
                  "display" : "Germline"
                }
              ]
            }
          },
          {
            "code" : {
              "coding" : [
                {
                  "system" : "http://loinc.org",
                  "code" : "48013-7",
                  "display" : "Genomic reference sequence [ID]"
                }
              ]
            },
            "valueCodeableConcept" : {
              "coding" : [
                {
                  "system" : "http://www.ncbi.nlm.nih.gov/refseq",
                  "code" : "NC_000023.10"
                }
              ]
            }
          },
          {
            "code" : {
              "coding" : [
                {
                  "system" : "http://loinc.org",
                  "code" : "92822-6",
                  "display" : "Genomic coordinate system [Type]"
                }
              ]
            },
            "valueCodeableConcept" : {
              "coding" : [
                {
                  "system" : "http://loinc.org",
                  "code" : "LA30102-0",
                  "display" : "1-based character counting"
                }
              ]
            }
          },
          {
            "code" : {
              "coding" : [
                {
                  "system" : "http://loinc.org",
                  "code" : "69547-8",
                  "display" : "Genomic ref allele [ID]"
                }
              ]
            },
            "valueString" : "T"
          },
          {
            "code" : {
              "coding" : [
                {
                  "system" : "http://loinc.org",
                  "code" : "69551-0",
                  "display" : "Genomic alt allele [ID]"
                }
              ]
            },
            "valueString" : "<DEL>"
          },
          {
            "code" : {
              "coding" : [
                {
                  "system" : "http://loinc.org",
                  "code" : "48019-4",
                  "display" : "DNA change type"
                }
              ]
            },
            "valueCodeableConcept" : {
              "coding" : [
                {
                  "system" : "http://www.sequenceontology.org",
                  "code" : "SO:0001019",
                  "display" : "copy_number_variation"
                }
              ]
            }
          },
          {
            "code" : {
              "coding" : [
                {
                  "system" : "http://loinc.org",
                  "code" : "81290-9",
                  "display" : "Genomic DNA change (gHGVS)"
                }
              ]
            },
            "valueCodeableConcept" : {
              "coding" : [
                {
                  "system" : "http://varnomen.hgvs.org",
                  "code" : "g.100652797_153792676del"
                }
              ]
            }
          },
          {
            "code" : {
              "coding" : [
                {
                  "system" : "http://loinc.org",
                  "code" : "48001-2",
                  "display" : "Cytogenetic (chromosome) location"
                }
              ]
            },
            "valueCodeableConcept" : {
              "text" : "Xq22.1-q28"
            }
          },
          {
            "code" : {
              "coding" : [
                {
                  "system" : "http://loinc.org",
                  "code" : "53037-8",
                  "display" : "Genetic variation clinical significance [Imp]"
                }
              ]
            },
            "valueCodeableConcept" : {
              "text" : "Pathogenic"
            }
          },
          {
            "code" : {
              "coding" : [
                {
                  "system" : "http://loinc.org",
                  "code" : "94186-4",
                  "display" : "Origin of germline genetic variant [Type]"
                }
              ]
            },
            "valueCodeableConcept" : {
              "coding" : [
                {
                  "system" : "http://loinc.org",
                  "code" : "LA26320-4",
                  "display" : "Maternal"
                }
              ]
            }
          },
          {
            "code" : {
              "coding" : [
                {
                  "system" : "http://loinc.org",
                  "code" : "81302-2",
                  "display" : "Structural variant inner start and end"
                }
              ]
            },
            "valueRange" : {
              "low" : {
                "value" : 100652796
              },
              "high" : {
                "value" : 153792676
              }
            }
          },
          {
            "code" : {
              "coding" : [
                {
                  "system" : "http://loinc.org",
                  "code" : "81258-6",
                  "display" : "Sample variant allelic frequency"
                }
              ]
            },
            "valueQuantity" : {
              "value" : 0.33,
              "unit" : "decimal",
              "system" : "http://unitsofmeasure.org"
            }
          },
          {
            "code" : {
              "coding" : [
                {
                  "system" : "http://loinc.org",
                  "code" : "82155-3",
                  "display" : "Genomic structural variant copy number"
                }
              ]
            },
            "valueQuantity" : {
              "value" : 1,
              "system" : "http://unitsofmeasure.org",
              "code" : "1"
            }
          }
        ]
      }
    },
    {
      "fullUrl" : "urn:uuid:135cec6d-0120-48eb-ada1-375160163885",
      "resource" : {
        "resourceType" : "Observation",
        "id" : "ctdna9737383222-sv1",
        "meta" : {
          "profile" : [
            🔗 "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/variant"
          ]
        },
        "language" : "en",
        "text" : {
          "status" : "generated",
          "div" : "<div xmlns=\"http://www.w3.org/1999/xhtml\"><a name=\"Observation_ctdna9737383222-sv1\"> </a><p class=\"res-header-id\"><b>Generated Narrative: Observation ctdna9737383222-sv1</b></p><a name=\"ctdna9737383222-sv1\"> </a><a name=\"hcctdna9737383222-sv1\"> </a><div style=\"display: inline-block; background-color: #d9e0e7; padding: 6px; margin: 4px; border: 1px solid #8da1b4; border-radius: 5px; line-height: 60%\"><p style=\"margin-bottom: 0px\"/><p style=\"margin-bottom: 0px\">Profile: <a href=\"http://hl7.org/fhir/uv/genomics-reporting/STU3/StructureDefinition-variant.html\">Variant</a></p></div><p><b>status</b>: Final</p><p><b>category</b>: <span title=\"Codes:{http://terminology.hl7.org/CodeSystem/observation-category laboratory}\">Laboratory</span>, <span title=\"Codes:{http://terminology.hl7.org/CodeSystem/v2-0074 GE}\">Genetics</span></p><p><b>code</b>: <span title=\"Codes:{http://loinc.org 69548-6}\">Genetic variant assessment</span></p><p><b>subject</b>: <a href=\"Bundle-ctdna9737383222-testresults.html#urn-uuid-5ee15fbb-5332-41df-a6dc-a8d1be8f9fcb\">Rob LEEDS  Male, DoB: 1978-01-17 ( National Health Plan Identifier)</a></p><p><b>effective</b>: 2026-07-14 15:59:16+0000</p><p><b>performer</b>: <a href=\"Bundle-ctdna9737383222-testresults.html#urn-uuid-3e221516-d8e9-46c7-9756-d3f948dfe607\">Organization NHS North West Genomics</a></p><p><b>value</b>: <span title=\"Codes:{http://loinc.org LA9633-4}\">Present</span></p><p><b>method</b>: <span title=\"Codes:{http://loinc.org LA26398-0}\">Sequencing</span></p><blockquote><p><b>component</b></p><p><b>code</b>: <span title=\"Codes:{http://loinc.org 48013-7}\">Genomic reference sequence [ID]</span></p><p><b>value</b>: <span title=\"Codes:{http://www.ncbi.nlm.nih.gov/refseq NC_000023.10}\">NC_000023.10</span></p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: <span title=\"Codes:{http://loinc.org 92822-6}\">Genomic coordinate system [Type]</span></p><p><b>value</b>: <span title=\"Codes:{http://loinc.org LA30102-0}\">1-based character counting</span></p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: <span title=\"Codes:{http://loinc.org 69547-8}\">Genomic ref allele [ID]</span></p><p><b>value</b>: T</p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: <span title=\"Codes:{http://loinc.org 69551-0}\">Genomic alt allele [ID]</span></p><p><b>value</b>: &lt;DEL&gt;</p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: <span title=\"Codes:{http://loinc.org 48019-4}\">DNA change type</span></p><p><b>value</b>: <span title=\"Codes:{http://www.sequenceontology.org SO:0000159}\">deletion</span></p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: <span title=\"Codes:{http://loinc.org 81290-9}\">Genomic DNA change (gHGVS)</span></p><p><b>value</b>: <span title=\"Codes:{http://varnomen.hgvs.org g.100652797_153792676del}\">g.100652797_153792676del</span></p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: <span title=\"Codes:{http://loinc.org 53037-8}\">Genetic variation clinical significance [Imp]</span></p><p><b>value</b>: <span title=\"Codes:\">Pathogenic</span></p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: <span title=\"Codes:{http://loinc.org 81302-2}\">Structural variant inner start and end</span></p><p><b>value</b>: 100652796-153792676</p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: <span title=\"Codes:{http://loinc.org 81258-6}\">Sample variant allelic frequency</span></p><p><b>value</b>: 0.33 decimal</p></blockquote></div>"
        },
        "status" : "final",
        "category" : [
          {
            "coding" : [
              {
                "system" : "http://terminology.hl7.org/CodeSystem/observation-category",
                "code" : "laboratory"
              }
            ]
          },
          {
            "coding" : [
              {
                "system" : "http://terminology.hl7.org/CodeSystem/v2-0074",
                "code" : "GE"
              }
            ]
          }
        ],
        "code" : {
          "coding" : [
            {
              "system" : "http://loinc.org",
              "code" : "69548-6",
              "display" : "Genetic variant assessment"
            }
          ]
        },
        "subject" : {
          "reference" : "urn:uuid:5ee15fbb-5332-41df-a6dc-a8d1be8f9fcb"
        },
        "effectiveDateTime" : "2026-07-14T15:59:16+00:00",
        "performer" : [
          {
            "reference" : "urn:uuid:3e221516-d8e9-46c7-9756-d3f948dfe607"
          }
        ],
        "valueCodeableConcept" : {
          "coding" : [
            {
              "system" : "http://loinc.org",
              "code" : "LA9633-4",
              "display" : "Present"
            }
          ]
        },
        "method" : {
          "coding" : [
            {
              "system" : "http://loinc.org",
              "code" : "LA26398-0",
              "display" : "Sequencing"
            }
          ]
        },
        "component" : [
          {
            "code" : {
              "coding" : [
                {
                  "system" : "http://loinc.org",
                  "code" : "48013-7",
                  "display" : "Genomic reference sequence [ID]"
                }
              ]
            },
            "valueCodeableConcept" : {
              "coding" : [
                {
                  "system" : "http://www.ncbi.nlm.nih.gov/refseq",
                  "code" : "NC_000023.10"
                }
              ]
            }
          },
          {
            "code" : {
              "coding" : [
                {
                  "system" : "http://loinc.org",
                  "code" : "92822-6",
                  "display" : "Genomic coordinate system [Type]"
                }
              ]
            },
            "valueCodeableConcept" : {
              "coding" : [
                {
                  "system" : "http://loinc.org",
                  "code" : "LA30102-0",
                  "display" : "1-based character counting"
                }
              ]
            }
          },
          {
            "code" : {
              "coding" : [
                {
                  "system" : "http://loinc.org",
                  "code" : "69547-8",
                  "display" : "Genomic ref allele [ID]"
                }
              ]
            },
            "valueString" : "T"
          },
          {
            "code" : {
              "coding" : [
                {
                  "system" : "http://loinc.org",
                  "code" : "69551-0",
                  "display" : "Genomic alt allele [ID]"
                }
              ]
            },
            "valueString" : "<DEL>"
          },
          {
            "code" : {
              "coding" : [
                {
                  "system" : "http://loinc.org",
                  "code" : "48019-4",
                  "display" : "DNA change type"
                }
              ]
            },
            "valueCodeableConcept" : {
              "coding" : [
                {
                  "system" : "http://www.sequenceontology.org",
                  "code" : "SO:0000159",
                  "display" : "deletion"
                }
              ]
            }
          },
          {
            "code" : {
              "coding" : [
                {
                  "system" : "http://loinc.org",
                  "code" : "81290-9",
                  "display" : "Genomic DNA change (gHGVS)"
                }
              ]
            },
            "valueCodeableConcept" : {
              "coding" : [
                {
                  "system" : "http://varnomen.hgvs.org",
                  "code" : "g.100652797_153792676del"
                }
              ]
            }
          },
          {
            "code" : {
              "coding" : [
                {
                  "system" : "http://loinc.org",
                  "code" : "53037-8",
                  "display" : "Genetic variation clinical significance [Imp]"
                }
              ]
            },
            "valueCodeableConcept" : {
              "text" : "Pathogenic"
            }
          },
          {
            "code" : {
              "coding" : [
                {
                  "system" : "http://loinc.org",
                  "code" : "81302-2",
                  "display" : "Structural variant inner start and end"
                }
              ]
            },
            "valueRange" : {
              "low" : {
                "value" : 100652796
              },
              "high" : {
                "value" : 153792676
              }
            }
          },
          {
            "code" : {
              "coding" : [
                {
                  "system" : "http://loinc.org",
                  "code" : "81258-6",
                  "display" : "Sample variant allelic frequency"
                }
              ]
            },
            "valueQuantity" : {
              "value" : 0.33,
              "unit" : "decimal",
              "system" : "http://unitsofmeasure.org"
            }
          }
        ]
      }
    },
    {
      "fullUrl" : "urn:uuid:f3244cdf-95d8-4124-a026-46417a4fcf19",
      "resource" : {
        "resourceType" : "DiagnosticReport",
        "meta" : {
          "profile" : [
            🔗 "https://fhir.nwgenomics.nhs.uk/StructureDefinition/DiagnosticReport"🔗 ,
            "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/genomic-report"
          ]
        },
        "language" : "en",
        "text" : {
          "status" : "generated",
          "div" : "<div xmlns=\"http://www.w3.org/1999/xhtml\"><a name=\"DiagnosticReport_null\"> </a><p class=\"res-header-id\"><b>Generated Narrative: DiagnosticReport </b></p><div style=\"display: inline-block; background-color: #d9e0e7; padding: 6px; margin: 4px; border: 1px solid #8da1b4; border-radius: 5px; line-height: 60%\"><p style=\"margin-bottom: 0px\"/><p style=\"margin-bottom: 0px\">Profiles: <a href=\"StructureDefinition-DiagnosticReport.html\">Diagnostic Report</a>, <a href=\"http://hl7.org/fhir/uv/genomics-reporting/STU3/StructureDefinition-genomic-report.html\">Genomic Report</a></p></div><h2><span title=\"Codes:{https://fhir.nwgenomics.nhs.uk/CodeSystem/IGEAP ctDNA_M4}, {https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory M4.14}, {http://loinc.org 51969-4}\">PACKAGE: M4.14 - Non-Small Cell Lung Cancer, Multi-target ctDNA combined Multi-target NGS panel - small variant (EGFR, ALK, BRAF, KRAS, MET exon 14 skipping and copy number variations) and structural variant (ROS1, RET, ALK, NTRK1, NTRK2, NTRK3, MET exon</span> (<span title=\"Codes:{http://terminology.hl7.org/CodeSystem/v2-0074 GE}\">Genetics</span>) </h2><table class=\"grid\"><tr><td>Subject</td><td>Rob LEEDS  Male, DoB: 1978-01-17 ( National Health Plan Identifier)</td></tr><tr><td>Relevant Time</td><td>2026-07-14 15:59:16+0000</td></tr><tr><td>Reported</td><td>2026-07-14 15:59:16+0000</td></tr><tr><td>Performer</td><td> <a href=\"Bundle-ctdna9737383222-testresults.html#urn-uuid-3e221516-d8e9-46c7-9756-d3f948dfe607\">NHS North West Genomics</a></td></tr><tr><td>Identifier</td><td> Filler Identifier/T26-59X2</td></tr></table><p><b>Report Details</b></p><table class=\"grid\"><tr><td><b>Code</b></td><td><b>Value</b></td><td><b>Flags</b></td></tr><tr><td><a href=\"Bundle-ctdna9737383222-testresults.html#urn-uuid-2327bef8-dff6-4511-970b-0230095a2fef\"><span title=\"Codes:{http://loinc.org 69548-6}\">Genetic variant assessment</span></a></td><td><span title=\"Codes:{http://loinc.org LA9633-4}\">Present</span></td><td>Final</td></tr><tr><td><a href=\"Bundle-ctdna9737383222-testresults.html#urn-uuid-5e1692e3-7e9a-4bc2-b429-17c2e1b7cbec\"><span title=\"Codes:{http://loinc.org 69548-6}\">Genetic variant assessment</span></a></td><td><span title=\"Codes:{http://loinc.org LA9633-4}\">Present</span></td><td>Final</td></tr><tr><td><a href=\"Bundle-ctdna9737383222-testresults.html#urn-uuid-5862205e-6077-40b2-8e63-c0a6b9f55984\"><span title=\"Codes:{http://loinc.org 69548-6}\">Genetic variant assessment</span></a></td><td><span title=\"Codes:{http://loinc.org LA9633-4}\">Present</span></td><td>Final</td></tr><tr><td><a href=\"Bundle-ctdna9737383222-testresults.html#urn-uuid-135cec6d-0120-48eb-ada1-375160163885\"><span title=\"Codes:{http://loinc.org 69548-6}\">Genetic variant assessment</span></a></td><td><span title=\"Codes:{http://loinc.org LA9633-4}\">Present</span></td><td>Final</td></tr></table></div>"
        },
        "identifier" : [
          {
            "type" : {
              "coding" : [
                {
                  "system" : "http://terminology.hl7.org/CodeSystem/v2-0203",
                  "code" : "FILL"
                }
              ]
            },
            "system" : "https://fhir.nwgenomics.nhs.uk/iGene/ReportIdentifier",
            "value" : "T26-59X2",
            "assigner" : {
              "identifier" : {
                "system" : "https://fhir.nhs.uk/Id/ods-organization-code",
                "value" : "699X0"
              }
            }
          }
        ],
        "basedOn" : [
          {
            "reference" : "urn:uuid:66446ddf-e567-4f0a-9964-c46ae4f3153e",
            "type" : "ServiceRequest",
            "identifier" : {
              "type" : {
                "coding" : [
                  {
                    "system" : "http://terminology.hl7.org/CodeSystem/v2-0203",
                    "code" : "PLAC"
                  }
                ]
              },
              "value" : "1234-RR8",
              "assigner" : {
                "identifier" : {
                  "system" : "https://fhir.nhs.uk/Id/ods-organization-code",
                  "value" : "RR8"
                }
              }
            }
          }
        ],
        "status" : "final",
        "category" : [
          {
            "coding" : [
              {
                "system" : "http://terminology.hl7.org/CodeSystem/v2-0074",
                "code" : "GE"
              }
            ]
          }
        ],
        "code" : {
          "coding" : [
            {
              "system" : "https://fhir.nwgenomics.nhs.uk/CodeSystem/IGEAP",
              "code" : "ctDNA_M4",
              "display" : "PACKAGE: M4.14 - Non-Small Cell Lung Cancer, Multi-target ctDNA combined Multi-target NGS panel - small variant (EGFR, ALK, BRAF, KRAS, MET exon 14 skipping and copy number variations) and structural variant (ROS1, RET, ALK, NTRK1, NTRK2, NTRK3, MET exon"
            },
            {
              "system" : "https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory",
              "code" : "M4.14",
              "display" : "PACKAGE: M4.14 - Non-Small Cell Lung Cancer, Multi-target ctDNA combined Multi-target NGS panel - small variant (EGFR, ALK, BRAF, KRAS, MET exon 14 skipping and copy number variations) and structural variant (ROS1, RET, ALK, NTRK1, NTRK2, NTRK3, MET exon"
            },
            {
              "system" : "http://loinc.org",
              "code" : "51969-4",
              "display" : "Genetic analysis report"
            }
          ]
        },
        "subject" : {
          "reference" : "urn:uuid:5ee15fbb-5332-41df-a6dc-a8d1be8f9fcb",
          "identifier" : {
            "type" : {
              "coding" : [
                {
                  "system" : "http://terminology.hl7.org/CodeSystem/v2-0203",
                  "code" : "NH"
                }
              ]
            },
            "system" : "https://fhir.nhs.uk/Id/nhs-number",
            "value" : "9737383222"
          }
        },
        "encounter" : {
          "reference" : "urn:uuid:6f531758-c13f-4107-b15a-9d3f4b83a6e5",
          "identifier" : {
            "type" : {
              "coding" : [
                {
                  "system" : "http://terminology.hl7.org/CodeSystem/v2-0203",
                  "code" : "AN"
                }
              ]
            },
            "value" : "SP26-01847"
          }
        },
        "effectiveDateTime" : "2026-07-14T15:59:16+00:00",
        "issued" : "2026-07-14T15:59:16+00:00",
        "performer" : [
          {
            "reference" : "urn:uuid:3e221516-d8e9-46c7-9756-d3f948dfe607",
            "type" : "Organization",
            "identifier" : {
              "system" : "https://fhir.nhs.uk/Id/ods-organization-code",
              "value" : "699X0"
            },
            "display" : "NHS North West Genomics"
          }
        ],
        "result" : [
          {
            "reference" : "urn:uuid:2327bef8-dff6-4511-970b-0230095a2fef",
            "type" : "Observation"
          },
          {
            "reference" : "urn:uuid:5e1692e3-7e9a-4bc2-b429-17c2e1b7cbec",
            "type" : "Observation"
          },
          {
            "reference" : "urn:uuid:5862205e-6077-40b2-8e63-c0a6b9f55984",
            "type" : "Observation"
          },
          {
            "reference" : "urn:uuid:135cec6d-0120-48eb-ada1-375160163885",
            "type" : "Observation"
          }
        ]
      }
    }
  ]
}