NHS North West Genomics
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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

: dWGS Sub-order - Singleton

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{
  "resourceType" : "Bundle",
  "id" : "dWGS-Singleton-r2026000201",
  "meta" : {
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  "type" : "message",
  "timestamp" : "2026-08-29T05:45:09+00:00",
  "entry" : [
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      "fullUrl" : "urn:uuid:7ae6e4d1-b8a6-4364-8c76-521ac72f8e6a",
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          "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-O21\">event: O21</a> (OML - Laboratory order)</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/RIE\">https://fhir.nwgenomics.nhs.uk/Endpoint/RIE</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>/699X0</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>/699C0</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>NE&amp;Y Genomics</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/NEYGenomics\">https://fhir.nwgenomics.nhs.uk/Endpoint/NEYGenomics</a></td></tr></table><p><b>focus</b>: <a href=\"Bundle-dWGS-Singleton-r2026000201.html#urn-uuid-d48710fc-4e15-459c-9aa8-51790c5abbc8\">ServiceRequest Acutely unwell children with a likely monogenic disorder (WGS)</a></p></div>"
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        "destination" : [
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            "endpoint" : "https://fhir.nwgenomics.nhs.uk/Endpoint/RIE",
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        "source" : {
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          "endpoint" : "https://fhir.nwgenomics.nhs.uk/Endpoint/NEYGenomics"
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        "focus" : [
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            "reference" : "urn:uuid:d48710fc-4e15-459c-9aa8-51790c5abbc8"
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    {
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      "resource" : {
        "resourceType" : "Patient",
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        "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  (no stated gender), 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\">Patient internal identifier/p2026000101</td></tr></table></div>"
        },
        "identifier" : [
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            "type" : {
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            "system" : "https://fhir.nhs.uk/Id/nhs-number",
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                {
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        "name" : [
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              "Rob"
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        "birthDate" : "1978-01-17"
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    {
      "fullUrl" : "urn:uuid:69e1c0a7-0582-49b3-a8f3-8352c317de5c",
      "resource" : {
        "resourceType" : "Specimen",
        "language" : "en",
        "text" : {
          "status" : "generated",
          "div" : "<div xmlns=\"http://www.w3.org/1999/xhtml\"><a name=\"Specimen_null\"> </a><p class=\"res-header-id\"><b>Generated Narrative: Specimen </b></p><p><b>identifier</b>: Placer Identifier/RR8-P0001, Filler Identifier/YNE26-P0001, Shipment Tracking Number/NEY-CONSIGN-2026-100</p><p><b>type</b>: <span title=\"Codes:{http://snomed.info/sct 258580003}\">Whole blood specimen (specimen)</span></p><p><b>subject</b>: <a href=\"Bundle-dWGS-Singleton-r2026000201.html#urn-uuid-63004dab-d363-4e39-acbb-88fb2c2b398d\">Rob Leeds  (no stated gender), DoB: 1978-01-17 ( National Health Plan Identifier)</a></p><p><b>receivedTime</b>: 2026-08-20 00:00:00+0000</p><h3>Collections</h3><table class=\"grid\"><tr><td style=\"display: none\">-</td><td><b>Collected[x]</b></td><td><b>Quantity</b></td><td><b>Method</b></td></tr><tr><td style=\"display: none\">*</td><td>2026-08-18 00:00:00+0000</td><td>120.0 uL<span style=\"background: LightGoldenRodYellow\"> (Details: UCUM  codeuL = 'uL')</span></td><td><span title=\"Codes:\">Qiagen</span></td></tr></table><h3>Containers</h3><table class=\"grid\"><tr><td style=\"display: none\">-</td><td><b>Identifier</b></td></tr><tr><td style=\"display: none\">*</td><td>Container Identifier/FX000000001</td></tr></table></div>"
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        "identifier" : [
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            "value" : "RR8-P0001",
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      "resource" : {
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        "language" : "en",
        "text" : {
          "status" : "generated",
          "div" : "<div xmlns=\"http://www.w3.org/1999/xhtml\"><a name=\"Observation_null\"> </a><p class=\"res-header-id\"><b>Generated Narrative: Observation </b></p><p><b>status</b>: Final</p><p><b>category</b>: <span title=\"Codes:{http://terminology.hl7.org/CodeSystem/observation-category exam}\">Exam</span></p><p><b>code</b>: <span title=\"Codes:\">Family Structure</span></p><p><b>subject</b>: <a href=\"Bundle-dWGS-Singleton-r2026000201.html#urn-uuid-63004dab-d363-4e39-acbb-88fb2c2b398d\">Rob Leeds  (no stated gender), DoB: 1978-01-17 ( National Health Plan Identifier)</a></p><p><b>value</b>: <span title=\"Codes:\">Singleton</span></p></div>"
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        "status" : "final",
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        "subject" : {
          "reference" : "urn:uuid:63004dab-d363-4e39-acbb-88fb2c2b398d"
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        "valueCodeableConcept" : {
          "text" : "Singleton"
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    {
      "fullUrl" : "urn:uuid:92aea5db-001f-453e-b27d-1bab08980673",
      "resource" : {
        "resourceType" : "Observation",
        "language" : "en",
        "text" : {
          "status" : "generated",
          "div" : "<div xmlns=\"http://www.w3.org/1999/xhtml\"><a name=\"Observation_null\"> </a><p class=\"res-header-id\"><b>Generated Narrative: Observation </b></p><p><b>status</b>: Final</p><p><b>category</b>: <span title=\"Codes:{http://terminology.hl7.org/CodeSystem/observation-category exam}\">Exam</span></p><p><b>code</b>: <span title=\"Codes:\">Participant Type</span></p><p><b>subject</b>: <a href=\"Bundle-dWGS-Singleton-r2026000201.html#urn-uuid-63004dab-d363-4e39-acbb-88fb2c2b398d\">Rob Leeds  (no stated gender), DoB: 1978-01-17 ( National Health Plan Identifier)</a></p><p><b>value</b>: <span title=\"Codes:\">Proband</span></p></div>"
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        "status" : "final",
        "category" : [
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        "subject" : {
          "reference" : "urn:uuid:63004dab-d363-4e39-acbb-88fb2c2b398d"
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          "text" : "Proband"
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    },
    {
      "fullUrl" : "urn:uuid:d48710fc-4e15-459c-9aa8-51790c5abbc8",
      "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>: Filler Identifier/r2026000201-p2026000101</p><p><b>requisition</b>: r2026000201</p><p><b>status</b>: Active</p><p><b>intent</b>: Filler 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 R14.1}\">Acutely unwell children with a likely monogenic disorder (WGS)</span></p><p><b>subject</b>: <a href=\"Bundle-dWGS-Singleton-r2026000201.html#urn-uuid-63004dab-d363-4e39-acbb-88fb2c2b398d\">Rob Leeds  (no stated gender), DoB: 1978-01-17 ( National Health Plan Identifier)</a></p><p><b>requester</b>: The Leeds Genetics Laboratory (NE&amp;Y Genomics) (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>/699C0)</p><p><b>supportingInfo</b>: </p><ul><li><a href=\"Bundle-dWGS-Singleton-r2026000201.html#urn-uuid-90544717-e678-4a50-b07a-90176ae2fd16\">Observation </a></li><li><a href=\"Bundle-dWGS-Singleton-r2026000201.html#urn-uuid-92aea5db-001f-453e-b27d-1bab08980673\">Observation </a></li></ul><p><b>specimen</b>: <a href=\"Bundle-dWGS-Singleton-r2026000201.html#urn-uuid-69e1c0a7-0582-49b3-a8f3-8352c317de5c\">Specimen: identifier = Placer Identifier,Filler Identifier,Shipment Tracking Number; type = Whole blood specimen (specimen); receivedTime = 2026-08-20 00:00:00+0000</a></p><p><b>note</b>: </p><blockquote><div><p>Suspected inherited neurodevelopmental condition.</p>\n</div></blockquote></div>"
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            "value" : "r2026000201-p2026000101",
            "assigner" : {
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        "code" : {
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          "type" : "Organization",
          "identifier" : {
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            "value" : "699C0"
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          "display" : "The Leeds Genetics Laboratory (NE&Y Genomics)"
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            "reference" : "urn:uuid:90544717-e678-4a50-b07a-90176ae2fd16",
            "type" : "Observation"
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            "reference" : "urn:uuid:92aea5db-001f-453e-b27d-1bab08980673",
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        "specimen" : [
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        ],
        "note" : [
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            "text" : "Suspected inherited neurodevelopmental condition."
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}