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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<div xmlns="http://www.w3.org/1999/xhtml"><a name="Composition_composition-min"> </a><p class="res-header-id"><b>Generated Narrative: Composition composition-min</b></p><a name="composition-min"> </a><a name="hccomposition-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-Composition-twngs.html">基因定序檢測證明文件-Composition TWNGS</a></p></div><p><b>status</b>: Final</p><p><b>type</b>: <span title="Codes:{http://example.org/CodeSystem/nhi-apply-type-cs 1}">送核</span></p><p><b>category</b>: <span title="Codes:{http://example.org/CodeSystem/nhi-case-classification-cs 01}">西醫一般案件</span></p><p><b>date</b>: 2024-06-13</p><p><b>author</b>: <a href="Organization-org-hosp-min.html">Organization: identifier = Provider number (use: official, ); type = Healthcare Provider</a></p><p><b>title</b>: 次世代基因定序檢測證明文件</p></div>
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<title value="次世代基因定序檢測證明文件"/>
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<title value="基因定序檢測相關資料"/>
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<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 (use: official, ))</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>
</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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<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 (use: official, ))</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>
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<Patient>
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<text>
<status value="generated"/>
<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 (use: official, ))</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 (use: official, )</td></tr></table></div>
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<value value="A123456789"/>
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<value value="123456"/>
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<text value="王大明"/>
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<gender value="male"/>
<birthDate value="2001-01-01"/>
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<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 (use: official, )</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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<code value="prov"/>
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<Organization>
<id value="org-gene-min"/>
<meta>
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<text>
<status value="generated"/>
<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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<name value="XX檢驗實驗室"/>
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<Specimen>
<id value="spe-bld-min"/>
<meta>
<profile
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<text>
<status value="generated"/>
<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 (use: official, ))</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>
</text>
<identifier>
<value value="123-4567"/>
</identifier>
<type>
<coding>
<system value="http://loinc.org"/>
<code value="LP7057-5"/>
<display value="Bld"/>
</coding>
</type>
<subject>🔗
<reference value="Patient/pat-min"/>
</subject>
<collection>
<collectedDateTime value="2025-06-07"/>
<quantity>
<value value="40"/>
<unit value="%"/>
</quantity>
<bodySite>
<text value="周邊全血"/>
</bodySite>
</collection>
</Specimen>
</resource>
</entry>
<entry>
<fullUrl value="http://example.org/Device/dev-min"/>
<resource>
<Device>
<id value="dev-min"/>
<meta>
<profile
value="http://example.org/StructureDefinition/Device-twngs"/>
</meta>
<text>
<status value="generated"/>
<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>
</text>
<deviceName>
<name value="illumina"/>
<type value="user-friendly-name"/>
</deviceName>
<modelNumber value="HiSeq 4000 System"/>
</Device>
</resource>
</entry>
<entry>
<fullUrl value="http://example.org/DocumentReference/doc-gene-min"/>
<resource>
<DocumentReference>
<id value="doc-gene-min"/>
<meta>
<profile
value="http://example.org/StructureDefinition/DocumentReference-twngs"/>
</meta>
<text>
<status value="generated"/>
<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 (use: official, ))</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>
</text>
<status value="current"/>
<subject>🔗
<reference value="Patient/pat-min"/>
</subject>
<content>
<attachment>
<contentType value="application/pdf"/>
<url value="file://GenReport01.pdf"/>
<title value="BRCA 基因檢測"/>
</attachment>
</content>
</DocumentReference>
</resource>
</entry>
<entry>
<fullUrl value="http://example.org/Observation/obs-geneinfo-min"/>
<resource>
<Observation>
<id value="obs-geneinfo-min"/>
<meta>
<profile
value="http://example.org/StructureDefinition/Observation-geneInfo-twngs"/>
</meta>
<text>
<status value="generated"/>
<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 (use: official, ))</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>
</text>
<identifier>
<system value="http://example.org/identifier/case-number"/>
<value value="123456"/>
</identifier>
<status value="final"/>
<code>
<coding>
<system value="http://loinc.org"/>
<code value="51969-4"/>
</coding>
</code>
<subject>🔗
<reference value="Patient/pat-min"/>
</subject>
<effectiveDateTime value="2024-01-01"/>
<specimen>🔗
<reference value="Specimen/spe-bld-min"/>
</specimen>
<device>🔗
<reference value="Device/dev-min"/>
</device>
<derivedFrom>🔗
<reference value="DocumentReference/doc-gene-min"/>
</derivedFrom>
<component>
<code>
<coding>
<system
value="http://example.org/CodeSystem/gene-test-info-cs"/>
<code value="testGeneList"/>
</coding>
</code>
<valueString
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>
<component>
<code>
<coding>
<system
value="http://example.org/CodeSystem/gene-test-info-cs"/>
<code value="testTargetGeneNumber"/>
</coding>
</code>
<valueQuantity>
<value value="15"/>
</valueQuantity>
</component>
<component>
<code>
<coding>
<system
value="http://example.org/CodeSystem/gene-test-info-cs"/>
<code value="ngsLibraryPrepKit"/>
</coding>
</code>
<valueString value="Ion Xpress™ Plus Fragment Library Kit"/>
</component>
<component>
<code>
<coding>
<system
value="http://example.org/CodeSystem/gene-test-info-cs"/>
<code value="geneTestTotalReads"/>
</coding>
</code>
<valueQuantity>
<value value="2654265"/>
</valueQuantity>
</component>
<component>
<code>
<coding>
<system
value="http://example.org/CodeSystem/gene-test-info-cs"/>
<code value="geneTestMeanDepth"/>
</coding>
</code>
<valueQuantity>
<value value="456"/>
<unit value="x"/>
</valueQuantity>
</component>
<component>
<code>
<coding>
<system
value="http://example.org/CodeSystem/gene-test-info-cs"/>
<code value="refSeqAssemblyVersion"/>
</coding>
</code>
<valueString value="GRCh38"/>
</component>
<component>
<code>
<coding>
<system
value="http://example.org/CodeSystem/gene-test-info-cs"/>
<code value="percentMappedReads"/>
</coding>
</code>
<valueQuantity>
<value value="96.4"/>
<unit value="%"/>
<system value="http://unitsofmeasure.org"/>
<code value="%"/>
</valueQuantity>
</component>
<component>
<code>
<coding>
<system
value="http://example.org/CodeSystem/gene-test-info-cs"/>
<code value="tumorGeneVarAssessment"/>
</coding>
</code>
<valueCodeableConcept>
<coding>
<system
value="http://example.org/CodeSystem/tumor-gene-test-assessment-cs"/>
<code value="present"/>
</coding>
</valueCodeableConcept>
</component>
<component>
<code>
<coding>
<system
value="http://example.org/CodeSystem/gene-test-info-cs"/>
<code value="clinicalInterpretation"/>
</coding>
</code>
<valueString value="文字描述臨床判讀結果"/>
</component>
</Observation>
</resource>
</entry>
<entry>
<fullUrl value="http://example.org/Observation/obs-variant-min"/>
<resource>
<Observation>
<id value="obs-variant-min"/>
<meta>
<profile
value="http://example.org/StructureDefinition/Observation-variant-twngs"/>
</meta>
<text>
<status value="generated"/>
<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 (use: official, ))</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>
</text>
<status value="final"/>
<code>
<coding>
<system value="http://loinc.org"/>
<code value="69548-6"/>
</coding>
</code>
<subject>🔗
<reference value="Patient/pat-min"/>
</subject>
<effectiveDateTime value="2024-01-01"/>
<specimen>🔗
<reference value="Specimen/spe-bld-min"/>
</specimen>
<device>🔗
<reference value="Device/dev-min"/>
</device>
<derivedFrom>🔗
<reference value="DocumentReference/doc-gene-min"/>
</derivedFrom>
<component>
<code>
<coding>
<system
value="http://example.org/CodeSystem/genomic-variant-cs"/>
<code value="transcriptDB"/>
</coding>
</code>
<valueString value="RefSeq"/>
</component>
<component>
<code>
<coding>
<system
value="http://example.org/CodeSystem/genomic-variant-cs"/>
<code value="transcriptDBVersion"/>
</coding>
</code>
<valueString value="115"/>
</component>
<component>
<code>
<coding>
<system value="http://loinc.org"/>
<code value="51958-7"/>
</coding>
</code>
<valueString value="NM_000038.6"/>
</component>
<component>
<code>
<coding>
<system value="http://loinc.org"/>
<code value="48004-6"/>
</coding>
</code>
<valueString value="c.4393_4394del"/>
</component>
<component>
<code>
<coding>
<system value="http://loinc.org"/>
<code value="48018-6"/>
</coding>
</code>
<valueString value="APC"/>
</component>
<component>
<code>
<coding>
<system value="http://loinc.org"/>
<code value="48005-3"/>
</coding>
</code>
<valueString value="p.Ser1465fs"/>
</component>
<component>
<code>
<coding>
<system value="http://loinc.org"/>
<code value="81258-6"/>
</coding>
</code>
<valueQuantity>
<value value="48.9"/>
<unit value="%"/>
<system value="http://unitsofmeasure.org"/>
<code value="%"/>
</valueQuantity>
</component>
<component>
<code>
<coding>
<system value="http://loinc.org"/>
<code value="48019-4"/>
</coding>
</code>
<valueCodeableConcept>
<coding>
<system value="http://loinc.org"/>
<code value="LA6692-3"/>
</coding>
</valueCodeableConcept>
</component>
<component>
<code>
<coding>
<system value="http://loinc.org"/>
<code value="48013-7"/>
</coding>
</code>
<valueString value="NC_000005.10"/>
</component>
<component>
<code>
<coding>
<system value="http://loinc.org"/>
<code value="81290-9"/>
</coding>
</code>
<valueString value="g.112839979_112839980del"/>
</component>
<component>
<code>
<coding>
<system
value="http://example.org/CodeSystem/genomic-variant-cs"/>
<code value="proteinRefId"/>
</coding>
</code>
<valueString value="NP_000029.2"/>
</component>
<component>
<code>
<coding>
<system
value="http://example.org/CodeSystem/genomic-variant-cs"/>
<code value="aminoAcidChangeType"/>
</coding>
</code>
<valueCodeableConcept>
<coding>
<system value="http://loinc.org"/>
<code value="LA6694-9"/>
</coding>
</valueCodeableConcept>
</component>
<component>
<code>
<coding>
<system value="http://loinc.org"/>
<code value="82121-5"/>
</coding>
</code>
<valueQuantity>
<value value="440"/>
</valueQuantity>
</component>
<component>
<code>
<coding>
<system
value="http://example.org/CodeSystem/genomic-variant-cs"/>
<code value="totalReadDepth"/>
</coding>
</code>
<valueQuantity>
<value value="900"/>
</valueQuantity>
</component>
</Observation>
</resource>
</entry>
<entry>
<fullUrl value="http://example.org/Observation/obs-fusion-min"/>
<resource>
<Observation>
<id value="obs-fusion-min"/>
<meta>
<profile
value="http://example.org/StructureDefinition/Observation-fusion-twngs"/>
</meta>
<text>
<status value="generated"/>
<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 (use: official, ))</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>
</text>
<status value="final"/>
<code>
<coding>
<system
value="http://example.org/CodeSystem/genomic-observation-type-cs"/>
<code value="fusion"/>
</coding>
</code>
<subject>🔗
<reference value="Patient/pat-min"/>
</subject>
<effectiveDateTime value="2024-01-01"/>
<valueString value="EML4::ALK"/>
<specimen>🔗
<reference value="Specimen/spe-bld-min"/>
</specimen>
<device>🔗
<reference value="Device/dev-min"/>
</device>
<derivedFrom>🔗
<reference value="DocumentReference/doc-gene-min"/>
</derivedFrom>
<component>
<code>
<coding>
<system value="http://loinc.org"/>
<code value="81258-6"/>
</coding>
</code>
<valueQuantity>
<value value="16.7"/>
<unit value="%"/>
<system value="http://unitsofmeasure.org"/>
<code value="%"/>
</valueQuantity>
</component>
</Observation>
</resource>
</entry>
<entry>
<fullUrl value="http://example.org/Observation/obs-cnv-min"/>
<resource>
<Observation>
<id value="obs-cnv-min"/>
<meta>
<profile
value="http://example.org/StructureDefinition/Observation-cnv-twngs"/>
</meta>
<text>
<status value="generated"/>
<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 (use: official, ))</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>
</text>
<status value="final"/>
<code>
<coding>
<system value="http://loinc.org"/>
<code value="82155-3"/>
</coding>
</code>
<subject>🔗
<reference value="Patient/pat-min"/>
</subject>
<effectiveDateTime value="2024-01-01"/>
<valueQuantity>
<value value="8"/>
<unit value="copy number"/>
</valueQuantity>
<interpretation>
<coding>
<system
value="http://example.org/CodeSystem/cnv-interpretation-cs"/>
<code value="amplification"/>
</coding>
</interpretation>
<specimen>🔗
<reference value="Specimen/spe-bld-min"/>
</specimen>
<device>🔗
<reference value="Device/dev-min"/>
</device>
<derivedFrom>🔗
<reference value="DocumentReference/doc-gene-min"/>
</derivedFrom>
<component>
<code>
<coding>
<system value="http://loinc.org"/>
<code value="48018-6"/>
</coding>
</code>
<valueString value="HER2"/>
</component>
</Observation>
</resource>
</entry>
<entry>
<fullUrl value="http://example.org/Observation/obs-biomarker-min"/>
<resource>
<Observation>
<id value="obs-biomarker-min"/>
<meta>
<profile
value="http://example.org/StructureDefinition/Observation-biomarker-twngs"/>
</meta>
<text>
<status value="generated"/>
<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 (use: official, ))</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>
</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>
</text>
<status value="final"/>
<code>
<coding>
<system
value="http://example.org/CodeSystem/genomic-observation-type-cs"/>
<code value="biomarker"/>
</coding>
</code>
<subject>🔗
<reference value="Patient/pat-min"/>
</subject>
<effectiveDateTime value="2024-01-01"/>
<note>
<text
value="HRD (Homologous Recombination Deficiency)-high HLA LOH (Human Leukocyte Antigen Loss of Heterozygosity) -HLA-A loss"/>
</note>
<specimen>🔗
<reference value="Specimen/spe-bld-min"/>
</specimen>
<device>🔗
<reference value="Device/dev-min"/>
</device>
<derivedFrom>🔗
<reference value="DocumentReference/doc-gene-min"/>
</derivedFrom>
<component>
<code>
<coding>
<system
value="http://example.org/CodeSystem/genomic-observation-type-cs"/>
<code value="msiScore"/>
</coding>
</code>
<valueQuantity>
<value value="30"/>
<unit value="%"/>
<system value="http://unitsofmeasure.org"/>
<code value="%"/>
</valueQuantity>
</component>
<component>
<code>
<coding>
<system value="http://loinc.org"/>
<code value="81695-9"/>
</coding>
</code>
<valueCodeableConcept>
<coding>
<system value="http://loinc.org"/>
<code value="LA26203-2"/>
</coding>
<text value="MSI-H"/>
</valueCodeableConcept>
</component>
<component>
<code>
<coding>
<system value="http://loinc.org"/>
<code value="94076-7"/>
</coding>
</code>
<valueQuantity>
<value value="10"/>
<unit value="Muts/Mb"/>
</valueQuantity>
</component>
<component>
<code>
<coding>
<system value="http://loinc.org"/>
<code value="94077-5"/>
</coding>
</code>
<valueCodeableConcept>
<coding>
<system value="http://loinc.org"/>
<code value="LA9194-7"/>
</coding>
<text value="Low"/>
</valueCodeableConcept>
</component>
</Observation>
</resource>
</entry>
<entry>
<fullUrl value="http://example.org/Observation/obs-othvar-min"/>
<resource>
<Observation>
<id value="obs-othvar-min"/>
<meta>
<profile
value="http://example.org/StructureDefinition/Observation-othvar-twngs"/>
</meta>
<text>
<status value="generated"/>
<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 (use: official, ))</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>
</text>
<status value="final"/>
<code>
<coding>
<system
value="http://example.org/CodeSystem/genomic-observation-type-cs"/>
<code value="othVar"/>
</coding>
</code>
<subject>🔗
<reference value="Patient/pat-min"/>
</subject>
<effectiveDateTime value="2024-01-01"/>
<valueString value="complex rearrangement"/>
<specimen>🔗
<reference value="Specimen/spe-bld-min"/>
</specimen>
<device>🔗
<reference value="Device/dev-min"/>
</device>
<derivedFrom>🔗
<reference value="DocumentReference/doc-gene-min"/>
</derivedFrom>
<component>
<code>
<coding>
<system value="http://loinc.org"/>
<code value="48018-6"/>
</coding>
</code>
<valueString value="MYC"/>
</component>
</Observation>
</resource>
</entry>
<entry>
<fullUrl value="http://example.org/ServiceRequest/serReq-min"/>
<resource>
<ServiceRequest>
<id value="serReq-min"/>
<meta>
<profile
value="http://example.org/StructureDefinition/ServiceRequest-twngs"/>
</meta>
<text>
<status value="generated"/>
<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 (use: official, ))</a></p></div>
</text>
<status value="active"/>
<intent value="plan"/>
<code>
<coding>
<system
value="https://twcore.mohw.gov.tw/ig/twcore/CodeSystem/medical-service-payment-tw"/>
<code value="30301B"/>
<display value="實體腫瘤次世代基因定序－BRCA1/2基因檢測"/>
</coding>
</code>
<subject>🔗
<reference value="Patient/pat-min"/>
</subject>
</ServiceRequest>
</resource>
</entry>
</Bundle>