{ "resourceType" : "QuestionnaireResponse", "id" : "dWGS-Trio-r2026000203-p2026000104", "meta" : { "profile" : ["https://fhir.nwgenomics.nhs.uk/StructureDefinition/QuestionnaireResponse"] }, "language" : "en", "text" : { "status" : "generated", "div" : "

Generated Narrative: QuestionnaireResponse dWGS-Trio-r2026000203-p2026000104

Profile: QuestionnaireResponse

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LinkIDTextDefinitionAnswer\"doco\"
\".\"\".\" dWGS-Trio-r2026000203-p2026000104Questionnaire:North West Genomics dWGS Sub-Order Manifest
\".\"\".\"\".\" ReferralReferral / Sub-Order
\".\"\".\"\".\"\".\" dWGS/referral_idOriginal Order Placer Group Number (Referral ID)r2026000203
\".\"\".\"\".\"\".\" dWGS/clinical_indication_test_type_idTest CodeNHS England Genomic Test Code: R27.3 (Paediatric disorders (WGS))
\".\"\".\"\".\"\".\" dWGS/ordering_entity_idOriginal Ordering Facility CodeRNN
\".\"\".\"\".\"\".\" dWGS/glh_laboratory_idFiller Order Ordering Facility Code (GLH)699D0
\".\"\".\"\".\"\".\" dWGS/retrospective_sampleRetrospective Sample FlagNew
\".\"\".\"\".\"\".\" dWGS/clinical_informationClinical InformationPatient has intellectual disability
\".\"\".\"\".\"\".\" dWGS/approved_byApproved ByDuty Scientist on behalf of NEY GMS
\".\"\".\"\".\" PatientPatient
\".\"\".\"\".\"\".\" LN/45392-8Patient first nameGilly
\".\"\".\"\".\"\".\" LN/45394-4Patient surnameBrough
\".\"\".\"\".\"\".\" LN/21112-8Date of birth1989-07-01
\".\"\".\"\".\"\".\" LN/89061-6NHS Number9737383362
\".\"\".\"\".\"\".\" dWGS/patient_ngis_idPatient Identifier (NGIS)p2026000104
\".\"\".\"\".\" AskAtOrderEntryAsk At Order Entry Questions
\".\"\".\"\".\"\".\" NOS/FamilyStructureFamily StructureTrio
\".\"\".\"\".\"\".\" NOS/ParticipantTypeParticipant TypeProband
\".\"\".\"\".\" PrimarySpecimenPrimary Specimen (as received by GLH)
\".\"\".\"\".\"\".\" dWGS/primary_sample_received_dateSample Received Date2026-08-20T00:00:00+00:00
\".\"\".\"\".\"\".\" dWGS/primary_sample_id_as_received_by_glhReceived Sample IdentifierRNN-P0001
\".\"\".\"\".\"\".\" dWGS/primary_sample_id_in_glh_limsLIMS Sample IdentifierYNE26-P0004
\".\"\".\"\".\"\".\" dWGS/primary_sample_typeSample TypeGermline sample
\".\"\".\"\".\"\".\" LN/66746-9Sample Material TypeSNOMED CT: 258580003 (Whole blood specimen (specimen))
\".\"\".\"\".\"\".\" LN/33882-2Specimen Collection Date2026-08-18T00:00:00+00:00
\".\"\".\"\".\" DispatchedSpecimenDispatched Specimen (extracted DNA sent onward)
\".\"\".\"\".\"\".\" dWGS/dispatched_sample_id_in_glh_limsDispatched Sample IdentifierD26-2003
\".\"\".\"\".\"\".\" dWGS/dispatched_sample_lsidSpecimen BarcodeFX000000004
\".\"\".\"\".\"\".\" dWGS/dispatched_sample_typeDispatched Sample TypeGermline sample
\".\"\".\"\".\"\".\" dWGS/dispatched_sample_stateDispatched Material Type258566005|Deoxyribonucleic acid specimen (specimen)
\".\"\".\"\".\"\".\" dWGS/dispatched_sample_volume_ulSample Volume (uL)120.0
\".\"\".\"\".\"\".\" dWGS/dna_extraction_protocolDNA Extraction MethodQiagen
\".\"\".\"\".\"\".\" dWGS/glh_sample_consignment_numberConsignment NumberNEY-CONSIGN-2026-103
\".\"\".\"\".\" LaboratoryQCLaboratory QC and Logistics
\".\"\".\"\".\"\".\" dWGS/laboratory_remaining_volume_banked_ulRemaining Banked Volume (uL)400.0
\".\"\".\"\".\"\".\" dWGS/glh_concentration_ng_ulDNA Concentration (ng/uL)85.5
\".\"\".\"\".\"\".\" dWGS/glh_od260_280DNA Purity (OD260/280)1.85
\".\"\".\"\".\"\".\" dWGS/glh_din_valueDNA Integrity Number8.2
\".\"\".\"\".\"\".\" dWGS/glh_percentage_dna_over_23kbDNA Fragment Size (% over 23kb)92.0
\".\"\".\"\".\"\".\" dWGS/glh_qc_statusQC StatusPass
\".\"\".\"\".\"\".\" dWGS/glh_sample_dispatch_dateDispatch Date2026-08-26
\".\"\".\"\".\"\".\" dWGS/plating_organisationPlating Organisation699X0
\".\"\".\"\".\"\".\" dWGS/gmc_rack_idRack IdentifierRACK-2026-01
\".\"\".\"\".\"\".\" dWGS/gmc_rack_wellRack Well PositionA04
\".\"\".\"\".\"\".\" dWGS/prolonged_sample_storageSample Storage MethodFrozen

\"doco\" Documentation for this format
" }, "questionnaire" : "https://fhir.nwgenomics.nhs.uk/Questionnaire/dWGSSubOrder", "status" : "completed", "subject" : { "identifier" : { "type" : { "coding" : [{ "system" : "http://terminology.hl7.org/CodeSystem/v2-0203", "code" : "NH" }] }, "system" : "https://fhir.nhs.uk/Id/nhs-number", "value" : "9737383362" }, "display" : "Gilly Brough" }, "authored" : "2026-08-20T00:00:00+00:00", "item" : [{ "linkId" : "Referral", "text" : "Referral / Sub-Order", "item" : [{ "linkId" : "dWGS/referral_id", "text" : "Original Order Placer Group Number (Referral ID)", "answer" : [{ "valueString" : "r2026000203" }] }, { "linkId" : "dWGS/clinical_indication_test_type_id", "text" : "Test Code", "answer" : [{ "valueCoding" : { "system" : "https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory", "code" : "R27.3" } }] }, { "linkId" : "dWGS/ordering_entity_id", "text" : "Original Ordering Facility Code", "answer" : [{ "valueString" : "RNN" }] }, { "linkId" : "dWGS/glh_laboratory_id", "text" : "Filler Order Ordering Facility Code (GLH)", "answer" : [{ "valueString" : "699D0" }] }, { "linkId" : "dWGS/retrospective_sample", "text" : "Retrospective Sample Flag", "answer" : [{ "valueString" : "New" }] }, { "linkId" : "dWGS/clinical_information", "text" : "Clinical Information", "answer" : [{ "valueString" : "Patient has intellectual disability" }] }, { "linkId" : "dWGS/approved_by", "text" : "Approved By", "answer" : [{ "valueString" : "Duty Scientist on behalf of NEY GMS" }] }] }, { "linkId" : "Patient", "text" : "Patient", "item" : [{ "linkId" : "LN/45392-8", "text" : "Patient first name", "answer" : [{ "valueString" : "Gilly" }] }, { "linkId" : "LN/45394-4", "text" : "Patient surname", "answer" : [{ "valueString" : "Brough" }] }, { "linkId" : "LN/21112-8", "text" : "Date of birth", "answer" : [{ "valueDate" : "1989-07-01" }] }, { "linkId" : "LN/89061-6", "text" : "NHS Number", "answer" : [{ "valueString" : "9737383362" }] }, { "linkId" : "dWGS/patient_ngis_id", "text" : "Patient Identifier (NGIS)", "answer" : [{ "valueString" : "p2026000104" }] }] }, { "linkId" : "AskAtOrderEntry", "text" : "Ask At Order Entry Questions", "item" : [{ "linkId" : "NOS/FamilyStructure", "text" : "Family Structure", "answer" : [{ "valueString" : "Trio" }] }, { "linkId" : "NOS/ParticipantType", "text" : "Participant Type", "answer" : [{ "valueString" : "Proband" }] }] }, { "linkId" : "PrimarySpecimen", "text" : "Primary Specimen (as received by GLH)", "item" : [{ "linkId" : "dWGS/primary_sample_received_date", "text" : "Sample Received Date", "answer" : [{ "valueDateTime" : "2026-08-20T00:00:00+00:00" }] }, { "linkId" : "dWGS/primary_sample_id_as_received_by_glh", "text" : "Received Sample Identifier", "answer" : [{ "valueString" : "RNN-P0001" }] }, { "linkId" : "dWGS/primary_sample_id_in_glh_lims", "text" : "LIMS Sample Identifier", "answer" : [{ "valueString" : "YNE26-P0004" }] }, { "linkId" : "dWGS/primary_sample_type", "text" : "Sample Type", "answer" : [{ "valueString" : "Germline sample" }] }, { "linkId" : "LN/66746-9", "text" : "Sample Material Type", "answer" : [{ "valueCoding" : { "system" : "http://snomed.info/sct", "code" : "258580003", "display" : "Whole blood specimen (specimen)" } }] }, { "linkId" : "LN/33882-2", "text" : "Specimen Collection Date", "answer" : [{ "valueDateTime" : "2026-08-18T00:00:00+00:00" }] }] }, { "linkId" : "DispatchedSpecimen", "text" : "Dispatched Specimen (extracted DNA sent onward)", "item" : [{ "linkId" : "dWGS/dispatched_sample_id_in_glh_lims", "text" : "Dispatched Sample Identifier", "answer" : [{ "valueString" : "D26-2003" }] }, { "linkId" : "dWGS/dispatched_sample_lsid", "text" : "Specimen Barcode", "answer" : [{ "valueString" : "FX000000004" }] }, { "linkId" : "dWGS/dispatched_sample_type", "text" : "Dispatched Sample Type", "answer" : [{ "valueString" : "Germline sample" }] }, { "linkId" : "dWGS/dispatched_sample_state", "text" : "Dispatched Material Type", "answer" : [{ "valueString" : "258566005|Deoxyribonucleic acid specimen (specimen)" }] }, { "linkId" : "dWGS/dispatched_sample_volume_ul", "text" : "Sample Volume (uL)", "answer" : [{ "valueDecimal" : 120.0 }] }, { "linkId" : "dWGS/dna_extraction_protocol", "text" : "DNA Extraction Method", "answer" : [{ "valueString" : "Qiagen" }] }, { "linkId" : "dWGS/glh_sample_consignment_number", "text" : "Consignment Number", "answer" : [{ "valueString" : "NEY-CONSIGN-2026-103" }] }] }, { "linkId" : "LaboratoryQC", "text" : "Laboratory QC and Logistics", "item" : [{ "linkId" : "dWGS/laboratory_remaining_volume_banked_ul", "text" : "Remaining Banked Volume (uL)", "answer" : [{ "valueDecimal" : 400.0 }] }, { "linkId" : "dWGS/glh_concentration_ng_ul", "text" : "DNA Concentration (ng/uL)", "answer" : [{ "valueDecimal" : 85.5 }] }, { "linkId" : "dWGS/glh_od260_280", "text" : "DNA Purity (OD260/280)", "answer" : [{ "valueDecimal" : 1.85 }] }, { "linkId" : "dWGS/glh_din_value", "text" : "DNA Integrity Number", "answer" : [{ "valueDecimal" : 8.2 }] }, { "linkId" : "dWGS/glh_percentage_dna_over_23kb", "text" : "DNA Fragment Size (% over 23kb)", "answer" : [{ "valueDecimal" : 92.0 }] }, { "linkId" : "dWGS/glh_qc_status", "text" : "QC Status", "answer" : [{ "valueString" : "Pass" }] }, { "linkId" : "dWGS/glh_sample_dispatch_date", "text" : "Dispatch Date", "answer" : [{ "valueDate" : "2026-08-26" }] }, { "linkId" : "dWGS/plating_organisation", "text" : "Plating Organisation", "answer" : [{ "valueString" : "699X0" }] }, { "linkId" : "dWGS/gmc_rack_id", "text" : "Rack Identifier", "answer" : [{ "valueString" : "RACK-2026-01" }] }, { "linkId" : "dWGS/gmc_rack_well", "text" : "Rack Well Position", "answer" : [{ "valueString" : "A04" }] }, { "linkId" : "dWGS/prolonged_sample_storage", "text" : "Sample Storage Method", "answer" : [{ "valueString" : "Frozen" }] }] }] }