{ "resourceType" : "Bundle", "id" : "bundle-min", "meta" : { "profile" : ["http://example.org/StructureDefinition/Bundle-twngs"] }, "identifier" : { "system" : "http://example.org/identifier/ngs-case-number", "value" : "101202401021" }, "type" : "document", "timestamp" : "2024-06-13T10:00:00+08:00", "entry" : [{ "fullUrl" : "http://example.org/Composition/composition-min", "resource" : { "resourceType" : "Composition", "id" : "composition-min", "meta" : { "profile" : ["http://example.org/StructureDefinition/Composition-twngs"] }, "text" : { "status" : "generated", "div" : "

Generated Narrative: Composition composition-min

Profile: 基因定序檢測證明文件-Composition TWNGS

status: Final

type: 送核

category: 西醫一般案件

date: 2024-06-13

author: Organization: identifier = Provider number\u00a0(use:\u00a0official,\u00a0); type = Healthcare Provider

title: 次世代基因定序檢測證明文件

" }, "status" : "final", "type" : { "coding" : [{ "system" : "http://example.org/CodeSystem/nhi-apply-type-cs", "code" : "1" }] }, "category" : [{ "coding" : [{ "system" : "http://example.org/CodeSystem/nhi-case-classification-cs", "code" : "01" }] }], "subject" : { "reference" : "Patient/pat-min" }, "date" : "2024-06-13", "author" : [{ "reference" : "Organization/org-hosp-min" }], "title" : "次世代基因定序檢測證明文件", "section" : [{ "title" : "基因定序檢測相關資料", "entry" : [{ "reference" : "DiagnosticReport/diag-min" }, { "reference" : "Condition/con-min" }, { "reference" : "Organization/org-gene-min" }, { "reference" : "Specimen/spe-bld-min" }, { "reference" : "Device/dev-min" }, { "reference" : "DocumentReference/doc-gene-min" }, { "reference" : "Observation/obs-geneinfo-min" }, { "reference" : "Observation/obs-variant-min" }, { "reference" : "Observation/obs-fusion-min" }, { "reference" : "Observation/obs-cnv-min" }, { "reference" : "Observation/obs-biomarker-min" }, { "reference" : "Observation/obs-othvar-min" }, { "reference" : "ServiceRequest/serReq-min" }] }] } }, { "fullUrl" : "http://example.org/DiagnosticReport/diag-min", "resource" : { "resourceType" : "DiagnosticReport", "id" : "diag-min", "meta" : { "profile" : ["http://example.org/StructureDefinition/DiagnosticReport-twngs"] }, "text" : { "status" : "generated", "div" : "

Generated Narrative: DiagnosticReport diag-min

Profile: 基因定序檢測報告-DiagnosticReport TWNGS

XX 癌症基因檢測

Subject王大明 Male, DoB: 2001-01-01 ( Medical record number\u00a0(use:\u00a0official,\u00a0))
When For2024-05-07
Performer Organization XX檢驗實驗室

Report Details

CodeValueFlagsNoteWhen For
Genetic analysis reportFinal2024-01-01
Genetic variant assessmentFinal2024-01-01
FusionEML4::ALKFinal2024-01-01
Genomic structural variant copy number8 copy numberFinal, Amplification2024-01-01
BiomarkerFinal

HRD (Homologous Recombination Deficiency)-high HLA LOH (Human Leukocyte Antigen Loss of Heterozygosity) -HLA-A loss

\n
2024-01-01
Other Types of Variantcomplex rearrangementFinal2024-01-01
" }, "extension" : [{ "url" : "http://example.org/StructureDefinition/extension-DiagnosticReport-condition", "valueReference" : { "reference" : "Condition/con-min" } }], "basedOn" : [{ "reference" : "ServiceRequest/serReq-min" }], "status" : "final", "code" : { "coding" : [{ "system" : "http://loinc.org", "code" : "51969-4", "display" : "Genetic analysis report" }], "text" : "XX 癌症基因檢測" }, "subject" : { "reference" : "Patient/pat-min" }, "effectiveDateTime" : "2024-05-07", "performer" : [{ "reference" : "Organization/org-gene-min" }], "result" : [{ "reference" : "Observation/obs-geneinfo-min" }, { "reference" : "Observation/obs-variant-min" }, { "reference" : "Observation/obs-fusion-min" }, { "reference" : "Observation/obs-cnv-min" }, { "reference" : "Observation/obs-biomarker-min" }, { "reference" : "Observation/obs-othvar-min" }] } }, { "fullUrl" : "http://example.org/Condition/con-min", "resource" : { "resourceType" : "Condition", "id" : "con-min", "meta" : { "profile" : ["http://example.org/StructureDefinition/Condition-twngs"] }, "text" : { "status" : "generated", "div" : "

Generated Narrative: Condition con-min

Profile: 基因定序檢測報告之疾病資訊-Condition TWNGS

clinicalStatus: Active

category: Encounter Diagnosis

code: 慢性右心臟衰竭

subject: 王大明 Male, DoB: 2001-01-01 ( Medical record number\u00a0(use:\u00a0official,\u00a0))

recordedDate: 2024-01-01

note:

Adenocarcinoma, descending colon, cT3N2M1a, cStage IVA, KRAS G12V, with multiple liver metastases, status post FOLFIRI。附件附上病人診斷之相關資料，惠請委員核准Avastin之初申請，以利後續合併FOLFIRI之治療，謝謝。

\n
" }, "clinicalStatus" : { "coding" : [{ "system" : "http://terminology.hl7.org/CodeSystem/condition-clinical", "code" : "active" }] }, "category" : [{ "coding" : [{ "system" : "http://terminology.hl7.org/CodeSystem/condition-category", "code" : "encounter-diagnosis" }] }], "code" : { "coding" : [{ "system" : "https://twcore.mohw.gov.tw/ig/twcore/CodeSystem/icd-10-cm-2023-tw", "code" : "I50.812", "display" : "慢性右心臟衰竭" }] }, "subject" : { "reference" : "Patient/pat-min" }, "recordedDate" : "2024-01-01", "note" : [{ "text" : "Adenocarcinoma, descending colon, cT3N2M1a, cStage IVA, KRAS G12V, with multiple liver metastases, status post FOLFIRI。附件附上病人診斷之相關資料，惠請委員核准Avastin之初申請，以利後續合併FOLFIRI之治療，謝謝。" }] } }, { "fullUrl" : "http://example.org/Patient/pat-min", "resource" : { "resourceType" : "Patient", "id" : "pat-min", "meta" : { "profile" : ["http://example.org/StructureDefinition/Patient-twngs"] }, "text" : { "status" : "generated", "div" : "

Generated Narrative: Patient pat-min

Profile: 病人資訊-Patient TWNGS

王大明 Male, DoB: 2001-01-01 ( Medical record number\u00a0(use:\u00a0official,\u00a0))

Other Ids:National Person Identifier where the xxx is the ISO table 3166 3-character (alphabetic) country code/A123456789\u00a0(use:\u00a0official,\u00a0)
" }, "identifier" : [{ "use" : "official", "type" : { "coding" : [{ "system" : "http://terminology.hl7.org/CodeSystem/v2-0203", "code" : "NNxxx" }] }, "system" : "http://www.moi.gov.tw", "value" : "A123456789" }, { "use" : "official", "type" : { "coding" : [{ "system" : "http://terminology.hl7.org/CodeSystem/v2-0203", "code" : "MR" }] }, "system" : "https://tpech.gov.taipei", "value" : "123456" }], "name" : [{ "use" : "usual", "text" : "王大明" }], "gender" : "male", "birthDate" : "2001-01-01" } }, { "fullUrl" : "http://example.org/Organization/org-hosp-min", "resource" : { "resourceType" : "Organization", "id" : "org-hosp-min", "meta" : { "profile" : ["http://example.org/StructureDefinition/Organization-twngs"] }, "text" : { "status" : "generated", "div" : "

Generated Narrative: Organization org-hosp-min

Profile: 醫事機構-Organization TWNGS

identifier: Provider number/1145010010\u00a0(use:\u00a0official,\u00a0)

type: Healthcare Provider

" }, "identifier" : [{ "use" : "official", "type" : { "coding" : [{ "system" : "http://terminology.hl7.org/CodeSystem/v2-0203", "code" : "PRN" }] }, "system" : "http://example.org/CodeSystem/organization-identifier-tw", "value" : "1145010010" }], "type" : [{ "coding" : [{ "system" : "http://terminology.hl7.org/CodeSystem/organization-type", "code" : "prov" }] }] } }, { "fullUrl" : "http://example.org/Organization/org-gene-min", "resource" : { "resourceType" : "Organization", "id" : "org-gene-min", "meta" : { "profile" : ["http://example.org/StructureDefinition/Organization-gene-twngs"] }, "text" : { "status" : "generated", "div" : "

Generated Narrative: Organization org-gene-min

Profile: 基因檢測機構-Organization Gene TWNGS

identifier: https://dep.mohw.gov.tw/2023LDTB0002

name: XX檢驗實驗室

" }, "identifier" : [{ "system" : "https://dep.mohw.gov.tw", "value" : "2023LDTB0002" }], "name" : "XX檢驗實驗室" } }, { "fullUrl" : "http://example.org/Specimen/spe-bld-min", "resource" : { "resourceType" : "Specimen", "id" : "spe-bld-min", "meta" : { "profile" : ["http://example.org/StructureDefinition/Specimen-twngs"] }, "text" : { "status" : "generated", "div" : "

Generated Narrative: Specimen spe-bld-min

Profile: 基因檢測檢體-Specimen TWNGS

identifier: 123-4567

type: Bld

subject: 王大明 Male, DoB: 2001-01-01 ( Medical record number\u00a0(use:\u00a0official,\u00a0))

Collections

-Collected[x]QuantityBodySite
*2025-06-0740 %周邊全血
" }, "identifier" : [{ "value" : "123-4567" }], "type" : { "coding" : [{ "system" : "http://loinc.org", "code" : "LP7057-5", "display" : "Bld" }] }, "subject" : { "reference" : "Patient/pat-min" }, "collection" : { "collectedDateTime" : "2025-06-07", "quantity" : { "value" : 40, "unit" : "%" }, "bodySite" : { "text" : "周邊全血" } } } }, { "fullUrl" : "http://example.org/Device/dev-min", "resource" : { "resourceType" : "Device", "id" : "dev-min", "meta" : { "profile" : ["http://example.org/StructureDefinition/Device-twngs"] }, "text" : { "status" : "generated", "div" : "

Generated Narrative: Device dev-min

Profile: 基因定序檢測裝置-Device TWNGS

DeviceNames

-NameType
*illuminaUser Friendly name

modelNumber: HiSeq 4000 System

" }, "deviceName" : [{ "name" : "illumina", "type" : "user-friendly-name" }], "modelNumber" : "HiSeq 4000 System" } }, { "fullUrl" : "http://example.org/DocumentReference/doc-gene-min", "resource" : { "resourceType" : "DocumentReference", "id" : "doc-gene-min", "meta" : { "profile" : ["http://example.org/StructureDefinition/DocumentReference-twngs"] }, "text" : { "status" : "generated", "div" : "

Generated Narrative: DocumentReference doc-gene-min

Profile: 基因報告-DocumentReference TWNGS

status: Current

subject: 王大明 Male, DoB: 2001-01-01 ( Medical record number\u00a0(use:\u00a0official,\u00a0))

content

Attachments

-ContentTypeUrlTitle
*application/pdffile://GenReport01.pdfBRCA 基因檢測
" }, "status" : "current", "subject" : { "reference" : "Patient/pat-min" }, "content" : [{ "attachment" : { "contentType" : "application/pdf", "url" : "file://GenReport01.pdf", "title" : "BRCA 基因檢測" } }] } }, { "fullUrl" : "http://example.org/Observation/obs-geneinfo-min", "resource" : { "resourceType" : "Observation", "id" : "obs-geneinfo-min", "meta" : { "profile" : ["http://example.org/StructureDefinition/Observation-geneInfo-twngs"] }, "text" : { "status" : "generated", "div" : "

Generated Narrative: Observation obs-geneinfo-min

Profile: 基因資訊-Observation GeneInfo TWNGS

identifier: http://example.org/identifier/case-number/123456

status: Final

code: Genetic analysis report

subject: 王大明 Male, DoB: 2001-01-01 ( Medical record number\u00a0(use:\u00a0official,\u00a0))

effective: 2024-01-01

specimen: Specimen: identifier = 123-4567; type = Bld

device: Device: modelNumber = HiSeq 4000 System

derivedFrom: DocumentReference: status = current

component

code: 完整基因清單

value: HGNC:583,HGNC:3236,HGNC:7127,HGNC:8975,HGNC:8979,HGNC:7029,HGNC:20709,HGNC:1100,HGNC:3765,HGNC:11998,HGNC:1097,HGNC:427,HGNC:9588,HGNC:3430,HGNC:1316

component

code: 檢測目標基因個數

value: 15

component

code: 建庫試劑組廠牌

value: Ion Xpress™ Plus Fragment Library Kit

component

code: 定序總讀數

value: 2654265

component

code: 平均測序深度

value: 456 x

component

code: 人類參考基因組版本

value: GRCh38

component

code: 對準成功率

value: 96.4 % (Details: UCUM code% = '%')

component

code: 腫瘤基因檢測數據判讀

value: present

component

code: 基因臨床判讀結果

value: 文字描述臨床判讀結果

" }, "identifier" : [{ "system" : "http://example.org/identifier/case-number", "value" : "123456" }], "status" : "final", "code" : { "coding" : [{ "system" : "http://loinc.org", "code" : "51969-4" }] }, "subject" : { "reference" : "Patient/pat-min" }, "effectiveDateTime" : "2024-01-01", "specimen" : { "reference" : "Specimen/spe-bld-min" }, "device" : { "reference" : "Device/dev-min" }, "derivedFrom" : [{ "reference" : "DocumentReference/doc-gene-min" }], "component" : [{ "code" : { "coding" : [{ "system" : "http://example.org/CodeSystem/gene-test-info-cs", "code" : "testGeneList" }] }, "valueString" : "HGNC:583,HGNC:3236,HGNC:7127,HGNC:8975,HGNC:8979,HGNC:7029,HGNC:20709,HGNC:1100,HGNC:3765,HGNC:11998,HGNC:1097,HGNC:427,HGNC:9588,HGNC:3430,HGNC:1316" }, { "code" : { "coding" : [{ "system" : "http://example.org/CodeSystem/gene-test-info-cs", "code" : "testTargetGeneNumber" }] }, "valueQuantity" : { "value" : 15 } }, { "code" : { "coding" : [{ "system" : "http://example.org/CodeSystem/gene-test-info-cs", "code" : "ngsLibraryPrepKit" }] }, "valueString" : "Ion Xpress™ Plus Fragment Library Kit" }, { "code" : { "coding" : [{ "system" : "http://example.org/CodeSystem/gene-test-info-cs", "code" : "geneTestTotalReads" }] }, "valueQuantity" : { "value" : 2654265 } }, { "code" : { "coding" : [{ "system" : "http://example.org/CodeSystem/gene-test-info-cs", "code" : "geneTestMeanDepth" }] }, "valueQuantity" : { "value" : 456, "unit" : "x" } }, { "code" : { "coding" : [{ "system" : "http://example.org/CodeSystem/gene-test-info-cs", "code" : "refSeqAssemblyVersion" }] }, "valueString" : "GRCh38" }, { "code" : { "coding" : [{ "system" : "http://example.org/CodeSystem/gene-test-info-cs", "code" : "percentMappedReads" }] }, "valueQuantity" : { "value" : 96.4, "unit" : "%", "system" : "http://unitsofmeasure.org", "code" : "%" } }, { "code" : { "coding" : [{ "system" : "http://example.org/CodeSystem/gene-test-info-cs", "code" : "tumorGeneVarAssessment" }] }, "valueCodeableConcept" : { "coding" : [{ "system" : "http://example.org/CodeSystem/tumor-gene-test-assessment-cs", "code" : "present" }] } }, { "code" : { "coding" : [{ "system" : "http://example.org/CodeSystem/gene-test-info-cs", "code" : "clinicalInterpretation" }] }, "valueString" : "文字描述臨床判讀結果" }] } }, { "fullUrl" : "http://example.org/Observation/obs-variant-min", "resource" : { "resourceType" : "Observation", "id" : "obs-variant-min", "meta" : { "profile" : ["http://example.org/StructureDefinition/Observation-variant-twngs"] }, "text" : { "status" : "generated", "div" : "

Generated Narrative: Observation obs-variant-min

Profile: 短序列DNA變異資訊-Observation Variant TWNGS

status: Final

code: Genetic variant assessment

subject: 王大明 Male, DoB: 2001-01-01 ( Medical record number\u00a0(use:\u00a0official,\u00a0))

effective: 2024-01-01

specimen: Specimen: identifier = 123-4567; type = Bld

device: Device: modelNumber = HiSeq 4000 System

derivedFrom: DocumentReference: status = current

component

code: 轉錄本資料庫名稱

value: RefSeq

component

code: 轉錄本參考資料庫版本

value: 115

component

code: Transcript reference sequence [ID]

value: NM_000038.6

component

code: DNA change (c.HGVS)

value: c.4393_4394del

component

code: Gene studied [ID]

value: APC

component

code: Amino acid change (pHGVS)

value: p.Ser1465fs

component

code: Sample variant allelic frequency [NFr]

value: 48.9 % (Details: UCUM code% = '%')

component

code: DNA change type

value: Deletion

component

code: Genomic reference sequence [ID]

value: NC_000005.10

component

code: Genomic DNA change (gHGVS)

value: g.112839979_112839980del

component

code: 蛋白質參考序列編號

value: NP_000029.2

component

code: 胺基酸變異類型

value: Frameshift

component

code: Allelic read depth

value: 440

component

code: 變異區測序總讀數

value: 900

" }, "status" : "final", "code" : { "coding" : [{ "system" : "http://loinc.org", "code" : "69548-6" }] }, "subject" : { "reference" : "Patient/pat-min" }, "effectiveDateTime" : "2024-01-01", "specimen" : { "reference" : "Specimen/spe-bld-min" }, "device" : { "reference" : "Device/dev-min" }, "derivedFrom" : [{ "reference" : "DocumentReference/doc-gene-min" }], "component" : [{ "code" : { "coding" : [{ "system" : "http://example.org/CodeSystem/genomic-variant-cs", "code" : "transcriptDB" }] }, "valueString" : "RefSeq" }, { "code" : { "coding" : [{ "system" : "http://example.org/CodeSystem/genomic-variant-cs", "code" : "transcriptDBVersion" }] }, "valueString" : "115" }, { "code" : { "coding" : [{ "system" : "http://loinc.org", "code" : "51958-7" }] }, "valueString" : "NM_000038.6" }, { "code" : { "coding" : [{ "system" : "http://loinc.org", "code" : "48004-6" }] }, "valueString" : "c.4393_4394del" }, { "code" : { "coding" : [{ "system" : "http://loinc.org", "code" : "48018-6" }] }, "valueString" : "APC" }, { "code" : { "coding" : [{ "system" : "http://loinc.org", "code" : "48005-3" }] }, "valueString" : "p.Ser1465fs" }, { "code" : { "coding" : [{ "system" : "http://loinc.org", "code" : "81258-6" }] }, "valueQuantity" : { "value" : 48.9, "unit" : "%", "system" : "http://unitsofmeasure.org", "code" : "%" } }, { "code" : { "coding" : [{ "system" : "http://loinc.org", "code" : "48019-4" }] }, "valueCodeableConcept" : { "coding" : [{ "system" : "http://loinc.org", "code" : "LA6692-3" }] } }, { "code" : { "coding" : [{ "system" : "http://loinc.org", "code" : "48013-7" }] }, "valueString" : "NC_000005.10" }, { "code" : { "coding" : [{ "system" : "http://loinc.org", "code" : "81290-9" }] }, "valueString" : "g.112839979_112839980del" }, { "code" : { "coding" : [{ "system" : "http://example.org/CodeSystem/genomic-variant-cs", "code" : "proteinRefId" }] }, "valueString" : "NP_000029.2" }, { "code" : { "coding" : [{ "system" : "http://example.org/CodeSystem/genomic-variant-cs", "code" : "aminoAcidChangeType" }] }, "valueCodeableConcept" : { "coding" : [{ "system" : "http://loinc.org", "code" : "LA6694-9" }] } }, { "code" : { "coding" : [{ "system" : "http://loinc.org", "code" : "82121-5" }] }, "valueQuantity" : { "value" : 440 } }, { "code" : { "coding" : [{ "system" : "http://example.org/CodeSystem/genomic-variant-cs", "code" : "totalReadDepth" }] }, "valueQuantity" : { "value" : 900 } }] } }, { "fullUrl" : "http://example.org/Observation/obs-fusion-min", "resource" : { "resourceType" : "Observation", "id" : "obs-fusion-min", "meta" : { "profile" : ["http://example.org/StructureDefinition/Observation-fusion-twngs"] }, "text" : { "status" : "generated", "div" : "

Generated Narrative: Observation obs-fusion-min

Profile: 基因融合資訊-Observation Fusion TWNGS

status: Final

code: Fusion

subject: 王大明 Male, DoB: 2001-01-01 ( Medical record number\u00a0(use:\u00a0official,\u00a0))

effective: 2024-01-01

value: EML4::ALK

specimen: Specimen: identifier = 123-4567; type = Bld

device: Device: modelNumber = HiSeq 4000 System

derivedFrom: DocumentReference: status = current

Components

-CodeValue[x]
*Sample variant allelic frequency [NFr]16.7 % (Details: UCUM code% = '%')
" }, "status" : "final", "code" : { "coding" : [{ "system" : "http://example.org/CodeSystem/genomic-observation-type-cs", "code" : "fusion" }] }, "subject" : { "reference" : "Patient/pat-min" }, "effectiveDateTime" : "2024-01-01", "valueString" : "EML4::ALK", "specimen" : { "reference" : "Specimen/spe-bld-min" }, "device" : { "reference" : "Device/dev-min" }, "derivedFrom" : [{ "reference" : "DocumentReference/doc-gene-min" }], "component" : [{ "code" : { "coding" : [{ "system" : "http://loinc.org", "code" : "81258-6" }] }, "valueQuantity" : { "value" : 16.7, "unit" : "%", "system" : "http://unitsofmeasure.org", "code" : "%" } }] } }, { "fullUrl" : "http://example.org/Observation/obs-cnv-min", "resource" : { "resourceType" : "Observation", "id" : "obs-cnv-min", "meta" : { "profile" : ["http://example.org/StructureDefinition/Observation-cnv-twngs"] }, "text" : { "status" : "generated", "div" : "

Generated Narrative: Observation obs-cnv-min

Profile: 拷貝數變異資訊-Observation CNV TWNGS

status: Final

code: Genomic structural variant copy number

subject: 王大明 Male, DoB: 2001-01-01 ( Medical record number\u00a0(use:\u00a0official,\u00a0))

effective: 2024-01-01

value: 8 copy number

interpretation: Amplification

specimen: Specimen: identifier = 123-4567; type = Bld

device: Device: modelNumber = HiSeq 4000 System

derivedFrom: DocumentReference: status = current

Components

-CodeValue[x]
*Gene studied [ID]HER2
" }, "status" : "final", "code" : { "coding" : [{ "system" : "http://loinc.org", "code" : "82155-3" }] }, "subject" : { "reference" : "Patient/pat-min" }, "effectiveDateTime" : "2024-01-01", "valueQuantity" : { "value" : 8, "unit" : "copy number" }, "interpretation" : [{ "coding" : [{ "system" : "http://example.org/CodeSystem/cnv-interpretation-cs", "code" : "amplification" }] }], "specimen" : { "reference" : "Specimen/spe-bld-min" }, "device" : { "reference" : "Device/dev-min" }, "derivedFrom" : [{ "reference" : "DocumentReference/doc-gene-min" }], "component" : [{ "code" : { "coding" : [{ "system" : "http://loinc.org", "code" : "48018-6" }] }, "valueString" : "HER2" }] } }, { "fullUrl" : "http://example.org/Observation/obs-biomarker-min", "resource" : { "resourceType" : "Observation", "id" : "obs-biomarker-min", "meta" : { "profile" : ["http://example.org/StructureDefinition/Observation-biomarker-twngs"] }, "text" : { "status" : "generated", "div" : "

Generated Narrative: Observation obs-biomarker-min

Profile: 基因生物標記資訊-Observation Biomarker TWNGS

status: Final

code: Biomarker

subject: 王大明 Male, DoB: 2001-01-01 ( Medical record number\u00a0(use:\u00a0official,\u00a0))

effective: 2024-01-01

note:

HRD (Homologous Recombination Deficiency)-high HLA LOH (Human Leukocyte Antigen Loss of Heterozygosity) -HLA-A loss

\n

specimen: Specimen: identifier = 123-4567; type = Bld

device: Device: modelNumber = HiSeq 4000 System

derivedFrom: DocumentReference: status = current

component

code: MSI Score

value: 30 % (Details: UCUM code% = '%')

component

code: Microsatellite instability [Interpretation] in Cancer specimen Qualitative

value: MSI-H

component

code: Mutations/Megabase [# Ratio] in Tumor

value: 10 Muts/Mb

component

code: Tumor mutation burden [Interpretation]

value: Low

" }, "status" : "final", "code" : { "coding" : [{ "system" : "http://example.org/CodeSystem/genomic-observation-type-cs", "code" : "biomarker" }] }, "subject" : { "reference" : "Patient/pat-min" }, "effectiveDateTime" : "2024-01-01", "note" : [{ "text" : "HRD (Homologous Recombination Deficiency)-high HLA LOH (Human Leukocyte Antigen Loss of Heterozygosity) -HLA-A loss" }], "specimen" : { "reference" : "Specimen/spe-bld-min" }, "device" : { "reference" : "Device/dev-min" }, "derivedFrom" : [{ "reference" : "DocumentReference/doc-gene-min" }], "component" : [{ "code" : { "coding" : [{ "system" : "http://example.org/CodeSystem/genomic-observation-type-cs", "code" : "msiScore" }] }, "valueQuantity" : { "value" : 30, "unit" : "%", "system" : "http://unitsofmeasure.org", "code" : "%" } }, { "code" : { "coding" : [{ "system" : "http://loinc.org", "code" : "81695-9" }] }, "valueCodeableConcept" : { "coding" : [{ "system" : "http://loinc.org", "code" : "LA26203-2" }], "text" : "MSI-H" } }, { "code" : { "coding" : [{ "system" : "http://loinc.org", "code" : "94076-7" }] }, "valueQuantity" : { "value" : 10, "unit" : "Muts/Mb" } }, { "code" : { "coding" : [{ "system" : "http://loinc.org", "code" : "94077-5" }] }, "valueCodeableConcept" : { "coding" : [{ "system" : "http://loinc.org", "code" : "LA9194-7" }], "text" : "Low" } }] } }, { "fullUrl" : "http://example.org/Observation/obs-othvar-min", "resource" : { "resourceType" : "Observation", "id" : "obs-othvar-min", "meta" : { "profile" : ["http://example.org/StructureDefinition/Observation-othvar-twngs"] }, "text" : { "status" : "generated", "div" : "

Generated Narrative: Observation obs-othvar-min

Profile: 其他變異影響之基因-Observation Other Variant TWNGS

status: Final

code: Other Types of Variant

subject: 王大明 Male, DoB: 2001-01-01 ( Medical record number\u00a0(use:\u00a0official,\u00a0))

effective: 2024-01-01

value: complex rearrangement

specimen: Specimen: identifier = 123-4567; type = Bld

device: Device: modelNumber = HiSeq 4000 System

derivedFrom: DocumentReference: status = current

Components

-CodeValue[x]
*Gene studied [ID]MYC
" }, "status" : "final", "code" : { "coding" : [{ "system" : "http://example.org/CodeSystem/genomic-observation-type-cs", "code" : "othVar" }] }, "subject" : { "reference" : "Patient/pat-min" }, "effectiveDateTime" : "2024-01-01", "valueString" : "complex rearrangement", "specimen" : { "reference" : "Specimen/spe-bld-min" }, "device" : { "reference" : "Device/dev-min" }, "derivedFrom" : [{ "reference" : "DocumentReference/doc-gene-min" }], "component" : [{ "code" : { "coding" : [{ "system" : "http://loinc.org", "code" : "48018-6" }] }, "valueString" : "MYC" }] } }, { "fullUrl" : "http://example.org/ServiceRequest/serReq-min", "resource" : { "resourceType" : "ServiceRequest", "id" : "serReq-min", "meta" : { "profile" : ["http://example.org/StructureDefinition/ServiceRequest-twngs"] }, "text" : { "status" : "generated", "div" : "

Generated Narrative: ServiceRequest serReq-min

Profile: 基因定序檢測申請項目-ServiceRequest TWNGS

status: Active

intent: Plan

code: 實體腫瘤次世代基因定序－BRCA1/2基因檢測

subject: 王大明 Male, DoB: 2001-01-01 ( Medical record number\u00a0(use:\u00a0official,\u00a0))

" }, "status" : "active", "intent" : "plan", "code" : { "coding" : [{ "system" : "https://twcore.mohw.gov.tw/ig/twcore/CodeSystem/medical-service-payment-tw", "code" : "30301B", "display" : "實體腫瘤次世代基因定序－BRCA1/2基因檢測" }] }, "subject" : { "reference" : "Patient/pat-min" } } }] }