Generated Narrative: Composition composition-min

status: Final

type: 送核

category: 西醫一般案件

date: 2024-06-13

author: Organization: identifier = Provider number (use: official, ); type = Healthcare Provider

title: 次世代基因定序檢測證明文件

 <section> <title value="基因定序檢測相關資料"/> <entry> <reference value="DiagnosticReport/diag-min"/> </entry> <entry> <reference value="Condition/con-min"/> </entry> <entry> <reference value="Organization/org-gene-min"/> </entry> <entry> <reference value="Specimen/spe-bld-min"/> </entry> <entry> <reference value="Device/dev-min"/> </entry> <entry> <reference value="DocumentReference/doc-gene-min"/> </entry> <entry> <reference value="Observation/obs-geneinfo-min"/> </entry> <entry> <reference value="Observation/obs-variant-min"/> </entry> <entry> <reference value="Observation/obs-fusion-min"/> </entry> <entry> <reference value="Observation/obs-cnv-min"/> </entry> <entry> <reference value="Observation/obs-biomarker-min"/> </entry> <entry> <reference value="Observation/obs-othvar-min"/> </entry> <entry> <reference value="ServiceRequest/serReq-min"/> </entry> </section> </Composition> </resource> </entry> <entry> <fullUrl value="http://example.org/DiagnosticReport/diag-min"/> <resource> <DiagnosticReport> <id value="diag-min"/> <meta> <profile value="http://example.org/StructureDefinition/DiagnosticReport-twngs"/> </meta> <text> <status value="generated"/><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> </text> <extension url="http://example.org/StructureDefinition/extension-DiagnosticReport-condition"> <valueReference> <reference value="Condition/con-min"/> </valueReference> </extension> <basedOn> <reference value="ServiceRequest/serReq-min"/> </basedOn> <status value="final"/> <code> <coding> <system value="http://loinc.org"/> <code value="51969-4"/> <display value="Genetic analysis report"/> </coding> <text value="XX 癌症基因檢測"/> </code> <subject> <reference value="Patient/pat-min"/> </subject> <effectiveDateTime value="2024-05-07"/> <performer> <reference value="Organization/org-gene-min"/> </performer> <result> <reference value="Observation/obs-geneinfo-min"/> </result> <result> <reference value="Observation/obs-variant-min"/> </result> <result> <reference value="Observation/obs-fusion-min"/> </result> <result> <reference value="Observation/obs-cnv-min"/> </result> <result> <reference value="Observation/obs-biomarker-min"/> </result> <result> <reference value="Observation/obs-othvar-min"/> </result> </DiagnosticReport> </resource> </entry> <entry> <fullUrl value="http://example.org/Condition/con-min"/> <resource> <Condition> <id value="con-min"/> <meta> <profile value="http://example.org/StructureDefinition/Condition-twngs"/> </meta> <text> <status value="generated"/><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> </div></blockquote></div> </text> <clinicalStatus> <coding> <system value="http://terminology.hl7.org/CodeSystem/condition-clinical"/> <code value="active"/> </coding> </clinicalStatus> <category> <coding> <system value="http://terminology.hl7.org/CodeSystem/condition-category"/> <code value="encounter-diagnosis"/> </coding> </category> <code> <coding> <system value="https://twcore.mohw.gov.tw/ig/twcore/CodeSystem/icd-10-cm-2023-tw"/> <code value="I50.812"/> <display value="慢性右心臟衰竭"/> </coding> </code> <subject> <reference value="Patient/pat-min"/> </subject> <recordedDate value="2024-01-01"/> <note> <text value="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。"/> </note> </Condition> </resource> </entry> <entry> <fullUrl value="http://example.org/Patient/pat-min"/> <resource> <Patient> <id value="pat-min"/> <meta> <profile value="http://example.org/StructureDefinition/Patient-twngs"/> </meta> <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> </text> <identifier> <use value="official"/> <type> <coding> <system value="http://terminology.hl7.org/CodeSystem/v2-0203"/> <code value="NNxxx"/> </coding> </type> <system value="http://www.moi.gov.tw"/> <value value="A123456789"/> </identifier> <identifier> <use value="official"/> <type> <coding> <system value="http://terminology.hl7.org/CodeSystem/v2-0203"/> <code value="MR"/> </coding> </type> <system value="https://tpech.gov.taipei"/> <value value="123456"/> </identifier> <name> <use value="usual"/> <text value="王大明"/> </name> <gender value="male"/> <birthDate value="2001-01-01"/> </Patient> </resource> </entry> <entry> <fullUrl value="http://example.org/Organization/org-hosp-min"/> <resource> <Organization> <id value="org-hosp-min"/> <meta> <profile value="http://example.org/StructureDefinition/Organization-twngs"/> </meta> <text> <status value="generated"/><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> </text> <identifier> <use value="official"/> <type> <coding> <system value="http://terminology.hl7.org/CodeSystem/v2-0203"/> <code value="PRN"/> </coding> </type> <system value="http://example.org/CodeSystem/organization-identifier-tw"/> <value value="1145010010"/> </identifier> <type> <coding> <system value="http://terminology.hl7.org/CodeSystem/organization-type"/> <code value="prov"/> </coding> </type> </Organization> </resource> </entry> <entry> <fullUrl value="http://example.org/Organization/org-gene-min"/> <resource> <Organization> <id value="org-gene-min"/> <meta> <profile value="http://example.org/StructureDefinition/Organization-gene-twngs"/> </meta> <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> </text> <identifier> <system value="https://dep.mohw.gov.tw"/> <value value="2023LDTB0002"/> </identifier> <name value="XX檢驗實驗室"/> </Organization> </resource> </entry> <entry> <fullUrl value="http://example.org/Specimen/spe-bld-min"/> <resource> <Specimen> <id value="spe-bld-min"/> <meta> <profile value="http://example.org/StructureDefinition/Specimen-twngs"/> </meta> <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>