FHIR IG analytics| Package | fhir.nwgenomics.nhs.uk |
| Resource Type | Bundle |
| Id | Bundle-ctdna9737383222-testresults.json |
| FHIR Version | R4 |
No resources found
No resources found
No narrative content found in resource
FHIR
FHIRsmith{
"resourceType": "Bundle",
"id": "ctdna9737383222-testresults",
"meta": {
"profile": [
"https://fhir.nwgenomics.nhs.uk/StructureDefinition/BundleMessage"
]
},
"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",
"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/7.4.0/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&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&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 '->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",
"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",
"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/7.4.0/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",
"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",
"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"
]
},
"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"
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]
}
},
{
"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": {
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{
"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"
]
},
"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>: <DEL></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"
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]
},
{
"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"
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]
},
"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",
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}
]
},
"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"
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]
},
"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"
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},
{
"code": {
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{
"system": "http://loinc.org",
"code": "48004-6",
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}
]
},
"valueCodeableConcept": {
"coding": [
{
"system": "http://varnomen.hgvs.org",
"code": "NM_000138.4(FBN1):exon13_to_exon15del"
}
]
}
},
{
"code": {
"coding": [
{
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"code": "81290-9",
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}
]
},
"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"
]
},
"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>: <DEL></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]"
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]
},
"valueString": "T"
},
{
"code": {
"coding": [
{
"system": "http://loinc.org",
"code": "69551-0",
"display": "Genomic alt allele [ID]"
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]
},
"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"
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},
{
"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"
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]
},
"valueRange": {
"low": {
"value": 100652796
},
"high": {
"value": 153792676
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},
{
"code": {
"coding": [
{
"system": "http://loinc.org",
"code": "81258-6",
"display": "Sample variant allelic frequency"
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},
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"value": 0.33,
"unit": "decimal",
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{
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},
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"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"
]
},
"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>: <DEL></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",
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"code": "laboratory"
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{
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"code": "GE"
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}
],
"code": {
"coding": [
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},
"subject": {
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"performer": [
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],
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},
{
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},
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"coding": [
{
"system": "http://loinc.org",
"code": "LA30102-0",
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}
},
{
"code": {
"coding": [
{
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"code": "69547-8",
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},
"valueString": "T"
},
{
"code": {
"coding": [
{
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"valueString": "<DEL>"
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{
"code": {
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{
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"code": "SO:0000159",
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{
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},
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"text": "Pathogenic"
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},
{
"code": {
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{
"code": {
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},
"valueQuantity": {
"value": 0.33,
"unit": "decimal",
"system": "http://unitsofmeasure.org"
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]
}
},
{
"fullUrl": "urn:uuid:f3244cdf-95d8-4124-a026-46417a4fcf19",
"resource": {
"resourceType": "DiagnosticReport",
"meta": {
"profile": [
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]
},
"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>"
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"value": "T26-59X2",
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"identifier": {
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"value": "1234-RR8",
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"value": "RR8"
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}
],
"status": "final",
"category": [
{
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"coding": [
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{
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},
{
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"code": "51969-4",
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