臺灣次世代基因定序檢測實作指引
0.1.0 - ci-build
臺灣次世代基因定序檢測實作指引 - Local Development build (v0.1.0) built by the FHIR (HL7® FHIR® Standard) Build Tools. See the Directory of published versions
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"title" : "次世代基因定序檢測證明文件",
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{
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"div" : "<div xmlns=\"http://www.w3.org/1999/xhtml\"><a name=\"DiagnosticReport_diag-min\"> </a><p class=\"res-header-id\"><b>Generated Narrative: DiagnosticReport diag-min</b></p><a name=\"diag-min\"> </a><a name=\"hcdiag-min\"> </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=\"StructureDefinition-DiagnosticReport-twngs.html\">基因定序檢測報告-DiagnosticReport TWNGS</a></p></div><h2><span title=\"Codes:{http://loinc.org 51969-4}\">XX 癌症基因檢測</span> </h2><table class=\"grid\"><tr><td>Subject</td><td>王大明 Male, DoB: 2001-01-01 ( Medical record number\u00a0(use:\u00a0official,\u00a0))</td></tr><tr><td>When For</td><td>2024-05-07</td></tr><tr><td>Performer</td><td> <a href=\"Organization-org-gene-min.html\">Organization XX檢驗實驗室</a></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><td><b>Note</b></td><td><b>When For</b></td></tr><tr><td><a href=\"Observation-obs-geneinfo-min.html\"><span title=\"Codes:{http://loinc.org 51969-4}\">Genetic analysis report</span></a></td><td/><td>Final</td><td/><td>2024-01-01</td></tr><tr><td><a href=\"Observation-obs-variant-min.html\"><span title=\"Codes:{http://loinc.org 69548-6}\">Genetic variant assessment</span></a></td><td/><td>Final</td><td/><td>2024-01-01</td></tr><tr><td><a href=\"Observation-obs-fusion-min.html\"><span title=\"Codes:{http://example.org/CodeSystem/genomic-observation-type-cs fusion}\">Fusion</span></a></td><td>EML4::ALK</td><td>Final</td><td/><td>2024-01-01</td></tr><tr><td><a href=\"Observation-obs-cnv-min.html\"><span title=\"Codes:{http://loinc.org 82155-3}\">Genomic structural variant copy number</span></a></td><td>8 copy number</td><td>Final, <span title=\"Codes:{http://example.org/CodeSystem/cnv-interpretation-cs amplification}\">Amplification</span></td><td/><td>2024-01-01</td></tr><tr><td><a href=\"Observation-obs-biomarker-min.html\"><span title=\"Codes:{http://example.org/CodeSystem/genomic-observation-type-cs biomarker}\">Biomarker</span></a></td><td/><td>Final</td><td><blockquote><div><p>HRD (Homologous Recombination Deficiency)-high HLA LOH (Human Leukocyte Antigen Loss of Heterozygosity) -HLA-A loss</p>\n</div></blockquote></td><td>2024-01-01</td></tr><tr><td><a href=\"Observation-obs-othvar-min.html\"><span title=\"Codes:{http://example.org/CodeSystem/genomic-observation-type-cs othVar}\">Other Types of Variant</span></a></td><td>complex rearrangement</td><td>Final</td><td/><td>2024-01-01</td></tr></table></div>"
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"text" : "XX 癌症基因檢測"
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"text" : {
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"div" : "<div xmlns=\"http://www.w3.org/1999/xhtml\"><a name=\"Condition_con-min\"> </a><p class=\"res-header-id\"><b>Generated Narrative: Condition con-min</b></p><a name=\"con-min\"> </a><a name=\"hccon-min\"> </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=\"StructureDefinition-Condition-twngs.html\">基因定序檢測報告之疾病資訊-Condition TWNGS</a></p></div><p><b>clinicalStatus</b>: <span title=\"Codes:{http://terminology.hl7.org/CodeSystem/condition-clinical active}\">Active</span></p><p><b>category</b>: <span title=\"Codes:{http://terminology.hl7.org/CodeSystem/condition-category encounter-diagnosis}\">Encounter Diagnosis</span></p><p><b>code</b>: <span title=\"Codes:{https://twcore.mohw.gov.tw/ig/twcore/CodeSystem/icd-10-cm-2023-tw I50.812}\">慢性右心臟衰竭</span></p><p><b>subject</b>: <a href=\"Patient-pat-min.html\">王大明 Male, DoB: 2001-01-01 ( Medical record number\u00a0(use:\u00a0official,\u00a0))</a></p><p><b>recordedDate</b>: 2024-01-01</p><p><b>note</b>: </p><blockquote><div><p>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。</p>\n</div></blockquote></div>"
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"recordedDate" : "2024-01-01",
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"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。"
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"div" : "<div xmlns=\"http://www.w3.org/1999/xhtml\"><a name=\"Patient_pat-min\"> </a><p class=\"res-header-id\"><b>Generated Narrative: Patient pat-min</b></p><a name=\"pat-min\"> </a><a name=\"hcpat-min\"> </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=\"StructureDefinition-Patient-twngs.html\">病人資訊-Patient TWNGS</a></p></div><p style=\"border: 1px #661aff solid; background-color: #e6e6ff; padding: 10px;\">王大明 Male, DoB: 2001-01-01 ( Medical record number\u00a0(use:\u00a0official,\u00a0))</p><hr/><table class=\"grid\"><tr><td style=\"background-color: #f3f5da\" title=\"Other Ids (see the one above)\">Other Ids:</td><td colspan=\"3\">National Person Identifier where the xxx is the ISO table 3166 3-character (alphabetic) country code/A123456789\u00a0(use:\u00a0official,\u00a0)</td></tr></table></div>"
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"value" : "123456"
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"name" : [
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"text" : "王大明"
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"gender" : "male",
"birthDate" : "2001-01-01"
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{
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"resource" : {
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"div" : "<div xmlns=\"http://www.w3.org/1999/xhtml\"><a name=\"Organization_org-hosp-min\"> </a><p class=\"res-header-id\"><b>Generated Narrative: Organization org-hosp-min</b></p><a name=\"org-hosp-min\"> </a><a name=\"hcorg-hosp-min\"> </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=\"StructureDefinition-Organization-twngs.html\">醫事機構-Organization TWNGS</a></p></div><p><b>identifier</b>: Provider number/1145010010\u00a0(use:\u00a0official,\u00a0)</p><p><b>type</b>: <span title=\"Codes:{http://terminology.hl7.org/CodeSystem/organization-type prov}\">Healthcare Provider</span></p></div>"
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{
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"resource" : {
"resourceType" : "Organization",
"id" : "org-gene-min",
"meta" : {
"profile" : [
🔗 "http://example.org/StructureDefinition/Organization-gene-twngs"
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"text" : {
"status" : "generated",
"div" : "<div xmlns=\"http://www.w3.org/1999/xhtml\"><a name=\"Organization_org-gene-min\"> </a><p class=\"res-header-id\"><b>Generated Narrative: Organization org-gene-min</b></p><a name=\"org-gene-min\"> </a><a name=\"hcorg-gene-min\"> </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=\"StructureDefinition-Organization-gene-twngs.html\">基因檢測機構-Organization Gene TWNGS</a></p></div><p><b>identifier</b>: <code>https://dep.mohw.gov.tw</code>/2023LDTB0002</p><p><b>name</b>: XX檢驗實驗室</p></div>"
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"identifier" : [
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"value" : "2023LDTB0002"
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"name" : "XX檢驗實驗室"
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{
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"resource" : {
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"id" : "spe-bld-min",
"meta" : {
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"text" : {
"status" : "generated",
"div" : "<div xmlns=\"http://www.w3.org/1999/xhtml\"><a name=\"Specimen_spe-bld-min\"> </a><p class=\"res-header-id\"><b>Generated Narrative: Specimen spe-bld-min</b></p><a name=\"spe-bld-min\"> </a><a name=\"hcspe-bld-min\"> </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=\"StructureDefinition-Specimen-twngs.html\">基因檢測檢體-Specimen TWNGS</a></p></div><p><b>identifier</b>: 123-4567</p><p><b>type</b>: <span title=\"Codes:{http://loinc.org LP7057-5}\">Bld</span></p><p><b>subject</b>: <a href=\"Patient-pat-min.html\">王大明 Male, DoB: 2001-01-01 ( Medical record number\u00a0(use:\u00a0official,\u00a0))</a></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>BodySite</b></td></tr><tr><td style=\"display: none\">*</td><td>2025-06-07</td><td>40 %</td><td><span title=\"Codes:\">周邊全血</span></td></tr></table></div>"
},
"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"
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"text" : {
"status" : "generated",
"div" : "<div xmlns=\"http://www.w3.org/1999/xhtml\"><a name=\"Device_dev-min\"> </a><p class=\"res-header-id\"><b>Generated Narrative: Device dev-min</b></p><a name=\"dev-min\"> </a><a name=\"hcdev-min\"> </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=\"StructureDefinition-Device-twngs.html\">基因定序檢測裝置-Device TWNGS</a></p></div><h3>DeviceNames</h3><table class=\"grid\"><tr><td style=\"display: none\">-</td><td><b>Name</b></td><td><b>Type</b></td></tr><tr><td style=\"display: none\">*</td><td>illumina</td><td>User Friendly name</td></tr></table><p><b>modelNumber</b>: HiSeq 4000 System</p></div>"
},
"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" : "<div xmlns=\"http://www.w3.org/1999/xhtml\"><a name=\"DocumentReference_doc-gene-min\"> </a><p class=\"res-header-id\"><b>Generated Narrative: DocumentReference doc-gene-min</b></p><a name=\"doc-gene-min\"> </a><a name=\"hcdoc-gene-min\"> </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=\"StructureDefinition-DocumentReference-twngs.html\">基因報告-DocumentReference TWNGS</a></p></div><p><b>status</b>: Current</p><p><b>subject</b>: <a href=\"Patient-pat-min.html\">王大明 Male, DoB: 2001-01-01 ( Medical record number\u00a0(use:\u00a0official,\u00a0))</a></p><blockquote><p><b>content</b></p><h3>Attachments</h3><table class=\"grid\"><tr><td style=\"display: none\">-</td><td><b>ContentType</b></td><td><b>Url</b></td><td><b>Title</b></td></tr><tr><td style=\"display: none\">*</td><td>application/pdf</td><td>file://GenReport01.pdf</td><td>BRCA 基因檢測</td></tr></table></blockquote></div>"
},
"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"
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},
"text" : {
"status" : "generated",
"div" : "<div xmlns=\"http://www.w3.org/1999/xhtml\"><a name=\"Observation_obs-geneinfo-min\"> </a><p class=\"res-header-id\"><b>Generated Narrative: Observation obs-geneinfo-min</b></p><a name=\"obs-geneinfo-min\"> </a><a name=\"hcobs-geneinfo-min\"> </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=\"StructureDefinition-Observation-geneInfo-twngs.html\">基因資訊-Observation GeneInfo TWNGS</a></p></div><p><b>identifier</b>: <code>http://example.org/identifier/case-number</code>/123456</p><p><b>status</b>: Final</p><p><b>code</b>: <span title=\"Codes:{http://loinc.org 51969-4}\">Genetic analysis report</span></p><p><b>subject</b>: <a href=\"Patient-pat-min.html\">王大明 Male, DoB: 2001-01-01 ( Medical record number\u00a0(use:\u00a0official,\u00a0))</a></p><p><b>effective</b>: 2024-01-01</p><p><b>specimen</b>: <a href=\"Specimen-spe-bld-min.html\">Specimen: identifier = 123-4567; type = Bld</a></p><p><b>device</b>: <a href=\"Device-dev-min.html\">Device: modelNumber = HiSeq 4000 System</a></p><p><b>derivedFrom</b>: <a href=\"DocumentReference-doc-gene-min.html\">DocumentReference: status = current</a></p><blockquote><p><b>component</b></p><p><b>code</b>: <span title=\"Codes:{http://example.org/CodeSystem/gene-test-info-cs testGeneList}\">完整基因清單</span></p><p><b>value</b>: 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</p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: <span title=\"Codes:{http://example.org/CodeSystem/gene-test-info-cs testTargetGeneNumber}\">檢測目標基因個數</span></p><p><b>value</b>: 15</p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: <span title=\"Codes:{http://example.org/CodeSystem/gene-test-info-cs ngsLibraryPrepKit}\">建庫試劑組廠牌</span></p><p><b>value</b>: Ion Xpress™ Plus Fragment Library Kit</p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: <span title=\"Codes:{http://example.org/CodeSystem/gene-test-info-cs geneTestTotalReads}\">定序總讀數</span></p><p><b>value</b>: 2654265</p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: <span title=\"Codes:{http://example.org/CodeSystem/gene-test-info-cs geneTestMeanDepth}\">平均測序深度</span></p><p><b>value</b>: 456 x</p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: <span title=\"Codes:{http://example.org/CodeSystem/gene-test-info-cs refSeqAssemblyVersion}\">人類參考基因組版本</span></p><p><b>value</b>: GRCh38</p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: <span title=\"Codes:{http://example.org/CodeSystem/gene-test-info-cs percentMappedReads}\">對準成功率</span></p><p><b>value</b>: 96.4 %<span style=\"background: LightGoldenRodYellow\"> (Details: UCUM code% = '%')</span></p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: <span title=\"Codes:{http://example.org/CodeSystem/gene-test-info-cs tumorGeneVarAssessment}\">腫瘤基因檢測數據判讀</span></p><p><b>value</b>: <span title=\"Codes:{http://example.org/CodeSystem/tumor-gene-test-assessment-cs present}\">present</span></p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: <span title=\"Codes:{http://example.org/CodeSystem/gene-test-info-cs clinicalInterpretation}\">基因臨床判讀結果</span></p><p><b>value</b>: 文字描述臨床判讀結果</p></blockquote></div>"
},
"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" : "<div xmlns=\"http://www.w3.org/1999/xhtml\"><a name=\"Observation_obs-variant-min\"> </a><p class=\"res-header-id\"><b>Generated Narrative: Observation obs-variant-min</b></p><a name=\"obs-variant-min\"> </a><a name=\"hcobs-variant-min\"> </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=\"StructureDefinition-Observation-variant-twngs.html\">短序列DNA變異資訊-Observation Variant TWNGS</a></p></div><p><b>status</b>: Final</p><p><b>code</b>: <span title=\"Codes:{http://loinc.org 69548-6}\">Genetic variant assessment</span></p><p><b>subject</b>: <a href=\"Patient-pat-min.html\">王大明 Male, DoB: 2001-01-01 ( Medical record number\u00a0(use:\u00a0official,\u00a0))</a></p><p><b>effective</b>: 2024-01-01</p><p><b>specimen</b>: <a href=\"Specimen-spe-bld-min.html\">Specimen: identifier = 123-4567; type = Bld</a></p><p><b>device</b>: <a href=\"Device-dev-min.html\">Device: modelNumber = HiSeq 4000 System</a></p><p><b>derivedFrom</b>: <a href=\"DocumentReference-doc-gene-min.html\">DocumentReference: status = current</a></p><blockquote><p><b>component</b></p><p><b>code</b>: <span title=\"Codes:{http://example.org/CodeSystem/genomic-variant-cs transcriptDB}\">轉錄本資料庫名稱</span></p><p><b>value</b>: RefSeq</p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: <span title=\"Codes:{http://example.org/CodeSystem/genomic-variant-cs transcriptDBVersion}\">轉錄本參考資料庫版本</span></p><p><b>value</b>: 115</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>: NM_000038.6</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>: c.4393_4394del</p></blockquote><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>: APC</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>: p.Ser1465fs</p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: <span title=\"Codes:{http://loinc.org 81258-6}\">Sample variant allelic frequency [NFr]</span></p><p><b>value</b>: 48.9 %<span style=\"background: LightGoldenRodYellow\"> (Details: UCUM code% = '%')</span></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://loinc.org LA6692-3}\">Deletion</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>: NC_000005.10</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>: g.112839979_112839980del</p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: <span title=\"Codes:{http://example.org/CodeSystem/genomic-variant-cs proteinRefId}\">蛋白質參考序列編號</span></p><p><b>value</b>: NP_000029.2</p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: <span title=\"Codes:{http://example.org/CodeSystem/genomic-variant-cs aminoAcidChangeType}\">胺基酸變異類型</span></p><p><b>value</b>: <span title=\"Codes:{http://loinc.org LA6694-9}\">Frameshift</span></p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: <span title=\"Codes:{http://loinc.org 82121-5}\">Allelic read depth</span></p><p><b>value</b>: 440</p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: <span title=\"Codes:{http://example.org/CodeSystem/genomic-variant-cs totalReadDepth}\">變異區測序總讀數</span></p><p><b>value</b>: 900</p></blockquote></div>"
},
"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" : "<div xmlns=\"http://www.w3.org/1999/xhtml\"><a name=\"Observation_obs-fusion-min\"> </a><p class=\"res-header-id\"><b>Generated Narrative: Observation obs-fusion-min</b></p><a name=\"obs-fusion-min\"> </a><a name=\"hcobs-fusion-min\"> </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=\"StructureDefinition-Observation-fusion-twngs.html\">基因融合資訊-Observation Fusion TWNGS</a></p></div><p><b>status</b>: Final</p><p><b>code</b>: <span title=\"Codes:{http://example.org/CodeSystem/genomic-observation-type-cs fusion}\">Fusion</span></p><p><b>subject</b>: <a href=\"Patient-pat-min.html\">王大明 Male, DoB: 2001-01-01 ( Medical record number\u00a0(use:\u00a0official,\u00a0))</a></p><p><b>effective</b>: 2024-01-01</p><p><b>value</b>: EML4::ALK</p><p><b>specimen</b>: <a href=\"Specimen-spe-bld-min.html\">Specimen: identifier = 123-4567; type = Bld</a></p><p><b>device</b>: <a href=\"Device-dev-min.html\">Device: modelNumber = HiSeq 4000 System</a></p><p><b>derivedFrom</b>: <a href=\"DocumentReference-doc-gene-min.html\">DocumentReference: status = current</a></p><h3>Components</h3><table class=\"grid\"><tr><td style=\"display: none\">-</td><td><b>Code</b></td><td><b>Value[x]</b></td></tr><tr><td style=\"display: none\">*</td><td><span title=\"Codes:{http://loinc.org 81258-6}\">Sample variant allelic frequency [NFr]</span></td><td>16.7 %<span style=\"background: LightGoldenRodYellow\"> (Details: UCUM code% = '%')</span></td></tr></table></div>"
},
"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" : "<div xmlns=\"http://www.w3.org/1999/xhtml\"><a name=\"Observation_obs-cnv-min\"> </a><p class=\"res-header-id\"><b>Generated Narrative: Observation obs-cnv-min</b></p><a name=\"obs-cnv-min\"> </a><a name=\"hcobs-cnv-min\"> </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=\"StructureDefinition-Observation-cnv-twngs.html\">拷貝數變異資訊-Observation CNV TWNGS</a></p></div><p><b>status</b>: Final</p><p><b>code</b>: <span title=\"Codes:{http://loinc.org 82155-3}\">Genomic structural variant copy number</span></p><p><b>subject</b>: <a href=\"Patient-pat-min.html\">王大明 Male, DoB: 2001-01-01 ( Medical record number\u00a0(use:\u00a0official,\u00a0))</a></p><p><b>effective</b>: 2024-01-01</p><p><b>value</b>: 8 copy number</p><p><b>interpretation</b>: <span title=\"Codes:{http://example.org/CodeSystem/cnv-interpretation-cs amplification}\">Amplification</span></p><p><b>specimen</b>: <a href=\"Specimen-spe-bld-min.html\">Specimen: identifier = 123-4567; type = Bld</a></p><p><b>device</b>: <a href=\"Device-dev-min.html\">Device: modelNumber = HiSeq 4000 System</a></p><p><b>derivedFrom</b>: <a href=\"DocumentReference-doc-gene-min.html\">DocumentReference: status = current</a></p><h3>Components</h3><table class=\"grid\"><tr><td style=\"display: none\">-</td><td><b>Code</b></td><td><b>Value[x]</b></td></tr><tr><td style=\"display: none\">*</td><td><span title=\"Codes:{http://loinc.org 48018-6}\">Gene studied [ID]</span></td><td>HER2</td></tr></table></div>"
},
"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" : "<div xmlns=\"http://www.w3.org/1999/xhtml\"><a name=\"Observation_obs-biomarker-min\"> </a><p class=\"res-header-id\"><b>Generated Narrative: Observation obs-biomarker-min</b></p><a name=\"obs-biomarker-min\"> </a><a name=\"hcobs-biomarker-min\"> </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=\"StructureDefinition-Observation-biomarker-twngs.html\">基因生物標記資訊-Observation Biomarker TWNGS</a></p></div><p><b>status</b>: Final</p><p><b>code</b>: <span title=\"Codes:{http://example.org/CodeSystem/genomic-observation-type-cs biomarker}\">Biomarker</span></p><p><b>subject</b>: <a href=\"Patient-pat-min.html\">王大明 Male, DoB: 2001-01-01 ( Medical record number\u00a0(use:\u00a0official,\u00a0))</a></p><p><b>effective</b>: 2024-01-01</p><p><b>note</b>: </p><blockquote><div><p>HRD (Homologous Recombination Deficiency)-high HLA LOH (Human Leukocyte Antigen Loss of Heterozygosity) -HLA-A loss</p>\n</div></blockquote><p><b>specimen</b>: <a href=\"Specimen-spe-bld-min.html\">Specimen: identifier = 123-4567; type = Bld</a></p><p><b>device</b>: <a href=\"Device-dev-min.html\">Device: modelNumber = HiSeq 4000 System</a></p><p><b>derivedFrom</b>: <a href=\"DocumentReference-doc-gene-min.html\">DocumentReference: status = current</a></p><blockquote><p><b>component</b></p><p><b>code</b>: <span title=\"Codes:{http://example.org/CodeSystem/genomic-observation-type-cs msiScore}\">MSI Score</span></p><p><b>value</b>: 30 %<span style=\"background: LightGoldenRodYellow\"> (Details: UCUM code% = '%')</span></p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: <span title=\"Codes:{http://loinc.org 81695-9}\">Microsatellite instability [Interpretation] in Cancer specimen Qualitative</span></p><p><b>value</b>: <span title=\"Codes:{http://loinc.org LA26203-2}\">MSI-H</span></p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: <span title=\"Codes:{http://loinc.org 94076-7}\">Mutations/Megabase [# Ratio] in Tumor</span></p><p><b>value</b>: 10 Muts/Mb</p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: <span title=\"Codes:{http://loinc.org 94077-5}\">Tumor mutation burden [Interpretation]</span></p><p><b>value</b>: <span title=\"Codes:{http://loinc.org LA9194-7}\">Low</span></p></blockquote></div>"
},
"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" : "<div xmlns=\"http://www.w3.org/1999/xhtml\"><a name=\"Observation_obs-othvar-min\"> </a><p class=\"res-header-id\"><b>Generated Narrative: Observation obs-othvar-min</b></p><a name=\"obs-othvar-min\"> </a><a name=\"hcobs-othvar-min\"> </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=\"StructureDefinition-Observation-othvar-twngs.html\">其他變異影響之基因-Observation Other Variant TWNGS</a></p></div><p><b>status</b>: Final</p><p><b>code</b>: <span title=\"Codes:{http://example.org/CodeSystem/genomic-observation-type-cs othVar}\">Other Types of Variant</span></p><p><b>subject</b>: <a href=\"Patient-pat-min.html\">王大明 Male, DoB: 2001-01-01 ( Medical record number\u00a0(use:\u00a0official,\u00a0))</a></p><p><b>effective</b>: 2024-01-01</p><p><b>value</b>: complex rearrangement</p><p><b>specimen</b>: <a href=\"Specimen-spe-bld-min.html\">Specimen: identifier = 123-4567; type = Bld</a></p><p><b>device</b>: <a href=\"Device-dev-min.html\">Device: modelNumber = HiSeq 4000 System</a></p><p><b>derivedFrom</b>: <a href=\"DocumentReference-doc-gene-min.html\">DocumentReference: status = current</a></p><h3>Components</h3><table class=\"grid\"><tr><td style=\"display: none\">-</td><td><b>Code</b></td><td><b>Value[x]</b></td></tr><tr><td style=\"display: none\">*</td><td><span title=\"Codes:{http://loinc.org 48018-6}\">Gene studied [ID]</span></td><td>MYC</td></tr></table></div>"
},
"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" : "<div xmlns=\"http://www.w3.org/1999/xhtml\"><a name=\"ServiceRequest_serReq-min\"> </a><p class=\"res-header-id\"><b>Generated Narrative: ServiceRequest serReq-min</b></p><a name=\"serReq-min\"> </a><a name=\"hcserReq-min\"> </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=\"StructureDefinition-ServiceRequest-twngs.html\">基因定序檢測申請項目-ServiceRequest TWNGS</a></p></div><p><b>status</b>: Active</p><p><b>intent</b>: Plan</p><p><b>code</b>: <span title=\"Codes:{https://twcore.mohw.gov.tw/ig/twcore/CodeSystem/medical-service-payment-tw 30301B}\">實體腫瘤次世代基因定序－BRCA1/2基因檢測</span></p><p><b>subject</b>: <a href=\"Patient-pat-min.html\">王大明 Male, DoB: 2001-01-01 ( Medical record number\u00a0(use:\u00a0official,\u00a0))</a></p></div>"
},
"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"
}
}
}
]
}