Genomics Reporting Implementation Guide
4.0.0-ballot - STU 4 ballot
Genomics Reporting Implementation Guide
4.0.0-ballot - STU 4 ballot
Genomics Reporting Implementation Guide, published by HL7 International / Clinical Genomics. This guide is not an authorized publication; it is the continuous build for version 4.0.0-ballot built by the FHIR (HL7® FHIR® Standard) CI Build. This version is based on the current content of https://github.com/HL7/genomics-reporting/ and changes regularly. See the Directory of published versions
<Bundle xmlns="http://hl7.org/fhir">
<id value="bundle-CG-IG-HLA-FullBundle-01"/>
<type value="transaction"/>
<entry>
<fullUrl value="urn:uuid:13f34265-335c-4853-bc38-0815315edafa"/>
<resource>
<Patient>
<id value="CG-IG-HLA-FullBundle-01-1"/>
<text>
<status value="generated"/>
<div xmlns="http://www.w3.org/1999/xhtml"><a name="Patient_CG-IG-HLA-FullBundle-01-1"> </a><p class="res-header-id"><b>Generated Narrative: Patient CG-IG-HLA-FullBundle-01-1</b></p><a name="CG-IG-HLA-FullBundle-01-1"> </a><a name="hcCG-IG-HLA-FullBundle-01-1"> </a><p style="border: 1px #661aff solid; background-color: #e6e6ff; padding: 10px;">John Storm(official) Male, DoB: 1986-12-31 ( Donor Registration Number (use: usual, period: 2012-11-10 --> (ongoing)))</p><hr/></div>
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<identifier>
<use value="usual"/>
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<coding>
<system value="http://terminology.hl7.org/CodeSystem/v2-0203"/>
<code value="DR"/>
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<system value="http://example.org"/>
<value value="12345"/>
<period>
<start value="2012-11-10"/>
</period>
<assigner>
<display value="aDonorRegistry"/>
</assigner>
</identifier>
<name>
<use value="official"/>
<text value="John Storm"/>
<family value="Storm"/>
<given value="John"/>
</name>
<name>
<use value="nickname"/>
<text value="Johnny Storm"/>
<family value="Storm"/>
<given value="Johnny"/>
</name>
<name>
<use value="nickname"/>
<text value="The Human Torch"/>
</name>
<gender value="male"/>
<birthDate value="1986-12-31"/>
</Patient>
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<request>
<method value="POST"/>
<url value="Patient"/>
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</entry>
<entry>
<fullUrl value="urn:uuid:e44fbe33-6084-4ae2-a95e-8bc451c63340"/>
<resource>
<Specimen>
<id value="CG-IG-HLA-FullBundle-01-2"/>
<text>
<status value="generated"/>
<div xmlns="http://www.w3.org/1999/xhtml"><a name="Specimen_CG-IG-HLA-FullBundle-01-2"> </a><p class="res-header-id"><b>Generated Narrative: Specimen CG-IG-HLA-FullBundle-01-2</b></p><a name="CG-IG-HLA-FullBundle-01-2"> </a><a name="hcCG-IG-HLA-FullBundle-01-2"> </a><p><b>identifier</b>: <code>http://example.org</code>/123</p><p><b>accessionIdentifier</b>: <code>http://example.org</code>/456</p><p><b>type</b>: <span title="Codes:{http://snomed.info/sct 122555007}">Venous blood specimen</span></p><p><b>subject</b>: <a href="Bundle-bundle-CG-IG-HLA-FullBundle-01.html#urn-uuid-13f34265-335c-4853-bc38-0815315edafa">John Storm</a></p></div>
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<identifier>
<system value="http://example.org"/>
<value value="123"/>
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<accessionIdentifier>
<system value="http://example.org"/>
<value value="456"/>
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<type>
<coding>
<system value="http://snomed.info/sct"/>
<code value="122555007"/>
<display value="Venous blood specimen"/>
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<subject>
<reference value="urn:uuid:13f34265-335c-4853-bc38-0815315edafa"/>
<type value="Patient"/>
<display value="John Storm"/>
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<request>
<method value="POST"/>
<url value="Specimen"/>
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</entry>
<entry>
<fullUrl value="urn:uuid:9243cc20-27bd-4f87-ba90-0328ed474950"/>
<resource>
<Organization>
<id value="CG-IG-HLA-FullBundle-01-3"/>
<text>
<status value="generated"/>
<div xmlns="http://www.w3.org/1999/xhtml"><a name="Organization_CG-IG-HLA-FullBundle-01-3"> </a><p class="res-header-id"><b>Generated Narrative: Organization CG-IG-HLA-FullBundle-01-3</b></p><a name="CG-IG-HLA-FullBundle-01-3"> </a><a name="hcCG-IG-HLA-FullBundle-01-3"> </a><p><b>name</b>: aTypingLab Inc</p><p><b>alias</b>: aTL</p><h3>Contacts</h3><table class="grid"><tr><td style="display: none">-</td><td><b>Telecom</b></td><td><b>Address</b></td></tr><tr><td style="display: none">*</td><td>ph: 1-800-555-1234(Work)</td><td>123 Main St, Sometown, ND 99999(work)</td></tr></table></div>
</text>
<name value="aTypingLab Inc"/>
<alias value="aTL"/>
<contact>
<telecom>
<system value="phone"/>
<value value="1-800-555-1234"/>
<use value="work"/>
<rank value="1"/>
</telecom>
<address>
<use value="work"/>
<type value="physical"/>
<text value="123 Main St, Sometown, ND 99999"/>
<line value="123 Main St"/>
<city value="Sometown"/>
<state value="ND"/>
<postalCode value="99999"/>
<country value="USA"/>
</address>
</contact>
</Organization>
</resource>
<request>
<method value="POST"/>
<url value="Organization"/>
</request>
</entry>
<entry>
<fullUrl value="urn:uuid:00ef18ad-ed04-4b2c-81ee-b69bb243f0d5"/>
<resource>
<Organization>
<id value="CG-IG-HLA-FullBundle-01-4"/>
<text>
<status value="generated"/>
<div xmlns="http://www.w3.org/1999/xhtml"><a name="Organization_CG-IG-HLA-FullBundle-01-4"> </a><p class="res-header-id"><b>Generated Narrative: Organization CG-IG-HLA-FullBundle-01-4</b></p><a name="CG-IG-HLA-FullBundle-01-4"> </a><a name="hcCG-IG-HLA-FullBundle-01-4"> </a><p><b>name</b>: aDonorRegistry</p><p><b>alias</b>: ADR</p><h3>Contacts</h3><table class="grid"><tr><td style="display: none">-</td><td><b>Telecom</b></td><td><b>Address</b></td></tr><tr><td style="display: none">*</td><td>ph: 1-800-555-6789(Work)</td><td>456 Main St, Anytown ND, 00000(work)</td></tr></table></div>
</text>
<name value="aDonorRegistry"/>
<alias value="ADR"/>
<contact>
<telecom>
<system value="phone"/>
<value value="1-800-555-6789"/>
<use value="work"/>
<rank value="1"/>
</telecom>
<address>
<use value="work"/>
<type value="physical"/>
<text value="456 Main St, Anytown ND, 00000"/>
<line value="456 Main St"/>
<city value="Anytown"/>
<state value="ND"/>
<postalCode value="00000"/>
<country value="USA"/>
</address>
</contact>
</Organization>
</resource>
<request>
<method value="POST"/>
<url value="Organization"/>
</request>
</entry>
<entry>
<fullUrl value="urn:uuid:99309303-045e-4cf4-90d7-250d7a7476ea"/>
<resource>
<ServiceRequest>
<id value="CG-IG-HLA-FullBundle-01-5"/>
<text>
<status value="generated"/>
<div xmlns="http://www.w3.org/1999/xhtml"><a name="ServiceRequest_CG-IG-HLA-FullBundle-01-5"> </a><p class="res-header-id"><b>Generated Narrative: ServiceRequest CG-IG-HLA-FullBundle-01-5</b></p><a name="CG-IG-HLA-FullBundle-01-5"> </a><a name="hcCG-IG-HLA-FullBundle-01-5"> </a><p><b>status</b>: Completed</p><p><b>intent</b>: Order</p><h3>Codes</h3><table class="grid"><tr><td style="display: none">-</td><td><b>Concept</b></td></tr><tr><td style="display: none">*</td><td><span title="Codes:{http://loinc.org 13303-3}">HLA-A+B+C (class I) [Type]</span></td></tr></table><p><b>subject</b>: <a href="Bundle-bundle-CG-IG-HLA-FullBundle-01.html#urn-uuid-13f34265-335c-4853-bc38-0815315edafa">John Storm</a></p><p><b>authoredOn</b>: 2016-11-15</p><p><b>requester</b>: <a href="Bundle-bundle-CG-IG-HLA-FullBundle-01.html#urn-uuid-00ef18ad-ed04-4b2c-81ee-b69bb243f0d5">aDonorRegistry</a></p><p><b>performer</b>: <a href="Bundle-bundle-CG-IG-HLA-FullBundle-01.html#urn-uuid-9243cc20-27bd-4f87-ba90-0328ed474950">aTypingLab, Inc</a></p><h3>Reasons</h3><table class="grid"><tr><td style="display: none">-</td><td><b>Concept</b></td></tr><tr><td style="display: none">*</td><td><span title="Codes:">tissue typing for donor registry</span></td></tr></table></div>
</text>
<status value="completed"/>
<intent value="order"/>
<code>
<concept>
<coding>
<system value="http://loinc.org"/>
<code value="13303-3"/>
<display value="HLA-A+B+C (class I) [Type]"/>
</coding>
</concept>
</code>
<subject>
<reference value="urn:uuid:13f34265-335c-4853-bc38-0815315edafa"/>
<type value="Patient"/>
<display value="John Storm"/>
</subject>
<authoredOn value="2016-11-15"/>
<requester>
<reference value="urn:uuid:00ef18ad-ed04-4b2c-81ee-b69bb243f0d5"/>
<type value="Organization"/>
<display value="aDonorRegistry"/>
</requester>
<performer>
<reference value="urn:uuid:9243cc20-27bd-4f87-ba90-0328ed474950"/>
<type value="Organization"/>
<display value="aTypingLab, Inc"/>
</performer>
<reason>
<concept>
<text value="tissue typing for donor registry"/>
</concept>
</reason>
</ServiceRequest>
</resource>
<request>
<method value="POST"/>
<url value="ServiceRequest"/>
</request>
</entry>
<entry>
<fullUrl value="urn:uuid:b7765bbf-df40-486a-9f2f-404309643de6"/>
<resource>
<Observation>
<id value="CG-IG-HLA-FullBundle-01-10"/>
<meta>
<profile
value="http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/haplotype"/>
</meta>
<text>
<status value="generated"/>
<div xmlns="http://www.w3.org/1999/xhtml"><a name="Observation_CG-IG-HLA-FullBundle-01-10"> </a><p class="res-header-id"><b>Generated Narrative: Observation CG-IG-HLA-FullBundle-01-10</b></p><a name="CG-IG-HLA-FullBundle-01-10"> </a><a name="hcCG-IG-HLA-FullBundle-01-10"> </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-haplotype.html">Haplotype</a></p></div><p><b>status</b>: Final</p><p><b>category</b>: <span title="Codes:{http://terminology.hl7.org/CodeSystem/observation-category laboratory}">Laboratory</span>, <span title="Codes:{http://terminology.hl7.org/CodeSystem/v2-0074 GE}">Genetics</span></p><p><b>code</b>: <span title="Codes:{http://loinc.org 84414-2}">Haplotype name</span></p><p><b>subject</b>: <a href="Bundle-bundle-CG-IG-HLA-FullBundle-01.html#urn-uuid-13f34265-335c-4853-bc38-0815315edafa">John Storm</a></p><p><b>effective</b>: 2016-12-15</p><p><b>performer</b>: <a href="Bundle-bundle-CG-IG-HLA-FullBundle-01.html#urn-uuid-9243cc20-27bd-4f87-ba90-0328ed474950">aTypingLab, Inc</a></p><p><b>value</b>: <span title="Codes:{http://www.ebi.ac.uk/ipd/imgt/hla HLA-A*01:01:01G}">HLA-A*01:01:01G</span></p><p><b>method</b>: <span title="Codes:{https://www.ncbi.nlm.nih.gov/gtr GTR000000000.0}">NGS based Class I HLA-A, -B, -C genotyping</span></p><p><b>specimen</b>: <a href="Bundle-bundle-CG-IG-HLA-FullBundle-01.html#urn-uuid-e44fbe33-6084-4ae2-a95e-8bc451c63340">buccal swab from John Storm</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><span title="Codes:{http://www.genenames.org HGNC:4931}">HLA-A</span></td></tr></table></div>
</text>
<status value="final"/>
<category>
<coding>
<system
value="http://terminology.hl7.org/CodeSystem/observation-category"/>
<code value="laboratory"/>
</coding>
</category>
<category>
<coding>
<system value="http://terminology.hl7.org/CodeSystem/v2-0074"/>
<code value="GE"/>
</coding>
</category>
<code>
<coding>
<system value="http://loinc.org"/>
<code value="84414-2"/>
<display value="Haplotype name"/>
</coding>
</code>
<subject>
<reference value="urn:uuid:13f34265-335c-4853-bc38-0815315edafa"/>
<type value="Patient"/>
<display value="John Storm"/>
</subject>
<effectiveDateTime value="2016-12-15"/>
<performer>
<reference value="urn:uuid:9243cc20-27bd-4f87-ba90-0328ed474950"/>
<display value="aTypingLab, Inc"/>
</performer>
<valueCodeableConcept>
<coding>
<system value="http://www.ebi.ac.uk/ipd/imgt/hla"/>
<version value="3.23"/>
<code value="HLA-A*01:01:01G"/>
<display value="HLA-A*01:01:01G"/>
</coding>
</valueCodeableConcept>
<method>
<coding>
<system value="https://www.ncbi.nlm.nih.gov/gtr"/>
<code value="GTR000000000.0"/>
</coding>
<text value="NGS based Class I HLA-A, -B, -C genotyping"/>
</method>
<specimen>
<reference value="urn:uuid:e44fbe33-6084-4ae2-a95e-8bc451c63340"/>
<display value="buccal swab from John Storm"/>
</specimen>
<component>
<code>
<coding>
<system value="http://loinc.org"/>
<code value="48018-6"/>
<display value="Gene studied [ID]"/>
</coding>
</code>
<valueCodeableConcept>
<coding>
<system value="http://www.genenames.org"/>
<code value="HGNC:4931"/>
<display value="HLA-A"/>
</coding>
</valueCodeableConcept>
</component>
</Observation>
</resource>
<request>
<method value="POST"/>
<url value="Observation"/>
</request>
</entry>
<entry>
<fullUrl value="urn:uuid:d98d92a7-0e86-4ae5-b036-b7e1bba6ec32"/>
<resource>
<Observation>
<id value="CG-IG-HLA-FullBundle-01-11"/>
<meta>
<profile
value="http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/haplotype"/>
</meta>
<text>
<status value="generated"/>
<div xmlns="http://www.w3.org/1999/xhtml"><a name="Observation_CG-IG-HLA-FullBundle-01-11"> </a><p class="res-header-id"><b>Generated Narrative: Observation CG-IG-HLA-FullBundle-01-11</b></p><a name="CG-IG-HLA-FullBundle-01-11"> </a><a name="hcCG-IG-HLA-FullBundle-01-11"> </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-haplotype.html">Haplotype</a></p></div><p><b>status</b>: Final</p><p><b>category</b>: <span title="Codes:{http://terminology.hl7.org/CodeSystem/observation-category laboratory}">Laboratory</span>, <span title="Codes:{http://terminology.hl7.org/CodeSystem/v2-0074 GE}">Genetics</span></p><p><b>code</b>: <span title="Codes:{http://loinc.org 84414-2}">Haplotype name</span></p><p><b>subject</b>: <a href="Bundle-bundle-CG-IG-HLA-FullBundle-01.html#urn-uuid-13f34265-335c-4853-bc38-0815315edafa">John Storm</a></p><p><b>effective</b>: 2016-12-15</p><p><b>performer</b>: <a href="Bundle-bundle-CG-IG-HLA-FullBundle-01.html#urn-uuid-9243cc20-27bd-4f87-ba90-0328ed474950">aTypingLab, Inc</a></p><p><b>value</b>: <span title="Codes:{http://www.ebi.ac.uk/ipd/imgt/hla HLA-A*01:02}">HLA-A*01:02</span></p><p><b>method</b>: <span title="Codes:{https://www.ncbi.nlm.nih.gov/gtr GTR000000000.0}">NGS based Class I HLA-A, -B, -C genotyping</span></p><p><b>specimen</b>: <a href="Bundle-bundle-CG-IG-HLA-FullBundle-01.html#urn-uuid-e44fbe33-6084-4ae2-a95e-8bc451c63340">buccal swab from John Storm</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><span title="Codes:{http://www.genenames.org HGNC:4931}">HLA-A</span></td></tr></table></div>
</text>
<status value="final"/>
<category>
<coding>
<system
value="http://terminology.hl7.org/CodeSystem/observation-category"/>
<code value="laboratory"/>
</coding>
</category>
<category>
<coding>
<system value="http://terminology.hl7.org/CodeSystem/v2-0074"/>
<code value="GE"/>
</coding>
</category>
<code>
<coding>
<system value="http://loinc.org"/>
<code value="84414-2"/>
<display value="Haplotype name"/>
</coding>
</code>
<subject>
<reference value="urn:uuid:13f34265-335c-4853-bc38-0815315edafa"/>
<type value="Patient"/>
<display value="John Storm"/>
</subject>
<effectiveDateTime value="2016-12-15"/>
<performer>
<reference value="urn:uuid:9243cc20-27bd-4f87-ba90-0328ed474950"/>
<display value="aTypingLab, Inc"/>
</performer>
<valueCodeableConcept>
<coding>
<system value="http://www.ebi.ac.uk/ipd/imgt/hla"/>
<version value="3.23"/>
<code value="HLA-A*01:02"/>
<display value="HLA-A*01:02"/>
</coding>
</valueCodeableConcept>
<method>
<coding>
<system value="https://www.ncbi.nlm.nih.gov/gtr"/>
<code value="GTR000000000.0"/>
</coding>
<text value="NGS based Class I HLA-A, -B, -C genotyping"/>
</method>
<specimen>
<reference value="urn:uuid:e44fbe33-6084-4ae2-a95e-8bc451c63340"/>
<display value="buccal swab from John Storm"/>
</specimen>
<component>
<code>
<coding>
<system value="http://loinc.org"/>
<code value="48018-6"/>
<display value="Gene studied [ID]"/>
</coding>
</code>
<valueCodeableConcept>
<coding>
<system value="http://www.genenames.org"/>
<code value="HGNC:4931"/>
<display value="HLA-A"/>
</coding>
</valueCodeableConcept>
</component>
</Observation>
</resource>
<request>
<method value="POST"/>
<url value="Observation"/>
</request>
</entry>
<entry>
<fullUrl value="urn:uuid:49a86246-4004-42eb-9bdc-f542f93f9228"/>
<resource>
<Observation>
<id value="CG-IG-HLA-FullBundle-01-12"/>
<meta>
<profile
value="http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/genotype"/>
</meta>
<text>
<status value="generated"/>
<div xmlns="http://www.w3.org/1999/xhtml"><a name="Observation_CG-IG-HLA-FullBundle-01-12"> </a><p class="res-header-id"><b>Generated Narrative: Observation CG-IG-HLA-FullBundle-01-12</b></p><a name="CG-IG-HLA-FullBundle-01-12"> </a><a name="hcCG-IG-HLA-FullBundle-01-12"> </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-genotype.html">Genotype</a></p></div><p><b>basedOn</b>: <a href="Bundle-bundle-CG-IG-HLA-FullBundle-01.html#urn-uuid-99309303-045e-4cf4-90d7-250d7a7476ea">Class I HLA genotyping for John Storm</a></p><p><b>status</b>: Final</p><p><b>category</b>: <span title="Codes:{http://terminology.hl7.org/CodeSystem/observation-category laboratory}">Laboratory</span>, <span title="Codes:{http://terminology.hl7.org/CodeSystem/v2-0074 GE}">Genetics</span></p><p><b>code</b>: <span title="Codes:{http://loinc.org 84413-4}">Genotype display name</span></p><p><b>subject</b>: <a href="Bundle-bundle-CG-IG-HLA-FullBundle-01.html#urn-uuid-13f34265-335c-4853-bc38-0815315edafa">John Storm</a></p><p><b>effective</b>: 2016-12-15</p><p><b>performer</b>: <a href="Bundle-bundle-CG-IG-HLA-FullBundle-01.html#urn-uuid-9243cc20-27bd-4f87-ba90-0328ed474950">aTypingLab, Inc</a></p><p><b>value</b>: <span title="Codes:{http://glstring.org hla#3.23.0#HLA-A:01:01G+HLA-A*01:02}">hla#3.23.0#HLA-A:01:01G+HLA-A*01:02</span></p><p><b>method</b>: <span title="Codes:{https://www.ncbi.nlm.nih.gov/gtr GTR000000000.0}">NGS based Class I HLA-A, -B, -C genotyping</span></p><p><b>specimen</b>: <a href="Bundle-bundle-CG-IG-HLA-FullBundle-01.html#urn-uuid-e44fbe33-6084-4ae2-a95e-8bc451c63340">buccal swab from John Storm</a></p><p><b>derivedFrom</b>: </p><ul><li><a href="Bundle-bundle-CG-IG-HLA-FullBundle-01.html#urn-uuid-b7765bbf-df40-486a-9f2f-404309643de6">HLA-A*01:01:01G, exons 2 and 3</a></li><li><a href="Bundle-bundle-CG-IG-HLA-FullBundle-01.html#urn-uuid-d98d92a7-0e86-4ae5-b036-b7e1bba6ec32">HLA-A*01:02, exons 2 and 3</a></li></ul><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><span title="Codes:{http://www.genenames.org HGNC:4931}">HLA-A</span></td></tr></table></div>
</text>
<basedOn>
<reference value="urn:uuid:99309303-045e-4cf4-90d7-250d7a7476ea"/>
<type value="ServiceRequest"/>
<display value="Class I HLA genotyping for John Storm"/>
</basedOn>
<status value="final"/>
<category>
<coding>
<system
value="http://terminology.hl7.org/CodeSystem/observation-category"/>
<code value="laboratory"/>
</coding>
</category>
<category>
<coding>
<system value="http://terminology.hl7.org/CodeSystem/v2-0074"/>
<code value="GE"/>
</coding>
</category>
<code>
<coding>
<system value="http://loinc.org"/>
<code value="84413-4"/>
<display value="Genotype display name"/>
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<div xmlns="http://www.w3.org/1999/xhtml"><a name="Observation_CG-IG-HLA-FullBundle-01-18"> </a><p class="res-header-id"><b>Generated Narrative: Observation CG-IG-HLA-FullBundle-01-18</b></p><a name="CG-IG-HLA-FullBundle-01-18"> </a><a name="hcCG-IG-HLA-FullBundle-01-18"> </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-haplotype.html">Haplotype</a></p></div><p><b>status</b>: Final</p><p><b>category</b>: <span title="Codes:{http://terminology.hl7.org/CodeSystem/observation-category laboratory}">Laboratory</span>, <span title="Codes:{http://terminology.hl7.org/CodeSystem/v2-0074 GE}">Genetics</span></p><p><b>code</b>: <span title="Codes:{http://loinc.org 84414-2}">Haplotype name</span></p><p><b>subject</b>: <a href="Bundle-bundle-CG-IG-HLA-FullBundle-01.html#urn-uuid-13f34265-335c-4853-bc38-0815315edafa">John Storm</a></p><p><b>effective</b>: 2016-12-15</p><p><b>performer</b>: <a href="Bundle-bundle-CG-IG-HLA-FullBundle-01.html#urn-uuid-9243cc20-27bd-4f87-ba90-0328ed474950">aTypingLab, Inc</a></p><p><b>value</b>: <span title="Codes:{http://www.ebi.ac.uk/ipd/imgt/hla HLA-B*57:01:01G}">HLA-B*57:01:01G</span></p><p><b>method</b>: <span title="Codes:{https://www.ncbi.nlm.nih.gov/gtr GTR000000000.0}">NGS based Class I HLA-A, -B, -C genotyping</span></p><p><b>specimen</b>: <a href="Bundle-bundle-CG-IG-HLA-FullBundle-01.html#urn-uuid-e44fbe33-6084-4ae2-a95e-8bc451c63340">buccal swab from John Storm</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><span title="Codes:{http://www.genenames.org HGNC:4932}">HLA-B</span></td></tr></table></div>
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<Observation>
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<meta>
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<div xmlns="http://www.w3.org/1999/xhtml"><a name="Observation_CG-IG-HLA-FullBundle-01-19"> </a><p class="res-header-id"><b>Generated Narrative: Observation CG-IG-HLA-FullBundle-01-19</b></p><a name="CG-IG-HLA-FullBundle-01-19"> </a><a name="hcCG-IG-HLA-FullBundle-01-19"> </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-genotype.html">Genotype</a></p></div><p><b>basedOn</b>: <a href="Bundle-bundle-CG-IG-HLA-FullBundle-01.html#urn-uuid-99309303-045e-4cf4-90d7-250d7a7476ea">Class I HLA genotyping for John Storm</a></p><p><b>status</b>: Final</p><p><b>category</b>: <span title="Codes:{http://terminology.hl7.org/CodeSystem/observation-category laboratory}">Laboratory</span>, <span title="Codes:{http://terminology.hl7.org/CodeSystem/v2-0074 GE}">Genetics</span></p><p><b>code</b>: <span title="Codes:{http://loinc.org 84413-4}">Genotype display name</span></p><p><b>subject</b>: <a href="Bundle-bundle-CG-IG-HLA-FullBundle-01.html#urn-uuid-13f34265-335c-4853-bc38-0815315edafa">John Storm</a></p><p><b>effective</b>: 2016-12-15</p><p><b>performer</b>: <a href="Bundle-bundle-CG-IG-HLA-FullBundle-01.html#urn-uuid-9243cc20-27bd-4f87-ba90-0328ed474950">aTypingLab, Inc</a></p><p><b>value</b>: <span title="Codes:{http://glstring.org hla#3.23.0#HLA-B*15:01:01G+HLA-B*57:01:01G}">hla#3.23.0#HLA-B*15:01:01G+HLA-B*57:01:01G</span></p><p><b>method</b>: <span title="Codes:{https://www.ncbi.nlm.nih.gov/gtr GTR000000000.0}">NGS based Class I HLA-A, -B, -C genotyping</span></p><p><b>specimen</b>: <a href="Bundle-bundle-CG-IG-HLA-FullBundle-01.html#urn-uuid-e44fbe33-6084-4ae2-a95e-8bc451c63340">buccal swab from John Storm</a></p><p><b>derivedFrom</b>: </p><ul><li><a href="Bundle-bundle-CG-IG-HLA-FullBundle-01.html#urn-uuid-e2092243-2970-49d2-a90f-b90d1d49715a">HLA-B*15:01:01G, exons 2 and 3</a></li><li><a href="Bundle-bundle-CG-IG-HLA-FullBundle-01.html#urn-uuid-792be53e-d4fb-4887-a367-815ef6c706e5">HLA-B*57:01:01G, exons 2 and 3</a></li></ul><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><span title="Codes:{http://www.genenames.org HGNC:4932}">HLA-B</span></td></tr></table></div>
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<div xmlns="http://www.w3.org/1999/xhtml"><a name="Observation_CG-IG-HLA-FullBundle-01-24"> </a><p class="res-header-id"><b>Generated Narrative: Observation CG-IG-HLA-FullBundle-01-24</b></p><a name="CG-IG-HLA-FullBundle-01-24"> </a><a name="hcCG-IG-HLA-FullBundle-01-24"> </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-haplotype.html">Haplotype</a></p></div><p><b>status</b>: Final</p><p><b>category</b>: <span title="Codes:{http://terminology.hl7.org/CodeSystem/observation-category laboratory}">Laboratory</span>, <span title="Codes:{http://terminology.hl7.org/CodeSystem/v2-0074 GE}">Genetics</span></p><p><b>code</b>: <span title="Codes:{http://loinc.org 84414-2}">Haplotype name</span></p><p><b>subject</b>: <a href="Bundle-bundle-CG-IG-HLA-FullBundle-01.html#urn-uuid-13f34265-335c-4853-bc38-0815315edafa">John Storm</a></p><p><b>effective</b>: 2016-12-15</p><p><b>performer</b>: <a href="Bundle-bundle-CG-IG-HLA-FullBundle-01.html#urn-uuid-9243cc20-27bd-4f87-ba90-0328ed474950">aTypingLab, Inc</a></p><p><b>value</b>: <span title="Codes:{http://www.ebi.ac.uk/ipd/imgt/hla HLA-C*01:02:01G}">HLA-C*01:02:01G</span></p><p><b>method</b>: <span title="Codes:{https://www.ncbi.nlm.nih.gov/gtr GTR000000000.0}">NGS based Class I HLA-A, -B, -C genotyping</span></p><p><b>specimen</b>: <a href="Bundle-bundle-CG-IG-HLA-FullBundle-01.html#urn-uuid-e44fbe33-6084-4ae2-a95e-8bc451c63340">buccal swab from John Storm</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><span title="Codes:{http://www.genenames.org HGNC:4933}">HLA-C</span></td></tr></table></div>
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<text>
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<div xmlns="http://www.w3.org/1999/xhtml"><a name="Observation_CG-IG-HLA-FullBundle-01-25"> </a><p class="res-header-id"><b>Generated Narrative: Observation CG-IG-HLA-FullBundle-01-25</b></p><a name="CG-IG-HLA-FullBundle-01-25"> </a><a name="hcCG-IG-HLA-FullBundle-01-25"> </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-haplotype.html">Haplotype</a></p></div><p><b>status</b>: Final</p><p><b>category</b>: <span title="Codes:{http://terminology.hl7.org/CodeSystem/observation-category laboratory}">Laboratory</span>, <span title="Codes:{http://terminology.hl7.org/CodeSystem/v2-0074 GE}">Genetics</span></p><p><b>code</b>: <span title="Codes:{http://loinc.org 84414-2}">Haplotype name</span></p><p><b>subject</b>: <a href="Bundle-bundle-CG-IG-HLA-FullBundle-01.html#urn-uuid-13f34265-335c-4853-bc38-0815315edafa">John Storm</a></p><p><b>effective</b>: 2016-12-15</p><p><b>performer</b>: <a href="Bundle-bundle-CG-IG-HLA-FullBundle-01.html#urn-uuid-9243cc20-27bd-4f87-ba90-0328ed474950">aTypingLab, Inc</a></p><p><b>value</b>: <span title="Codes:{http://www.ebi.ac.uk/ipd/imgt/hla HLA-C*01:02:01G}">HLA-C*01:02:01G</span></p><p><b>method</b>: <span title="Codes:{https://www.ncbi.nlm.nih.gov/gtr GTR000000000.0}">NGS based Class I HLA-A, -B, -C genotyping</span></p><p><b>specimen</b>: <a href="Bundle-bundle-CG-IG-HLA-FullBundle-01.html#urn-uuid-e44fbe33-6084-4ae2-a95e-8bc451c63340">buccal swab from John Storm</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><span title="Codes:{http://www.genenames.org HGNC:4933}">HLA-C</span></td></tr></table></div>
</text>
<status value="final"/>
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value="http://terminology.hl7.org/CodeSystem/observation-category"/>
<code value="laboratory"/>
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<category>
<coding>
<system value="http://terminology.hl7.org/CodeSystem/v2-0074"/>
<code value="GE"/>
</coding>
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<code>
<coding>
<system value="http://loinc.org"/>
<code value="84414-2"/>
<display value="Haplotype name"/>
</coding>
</code>
<subject>
<reference value="urn:uuid:13f34265-335c-4853-bc38-0815315edafa"/>
<type value="Patient"/>
<display value="John Storm"/>
</subject>
<effectiveDateTime value="2016-12-15"/>
<performer>
<reference value="urn:uuid:9243cc20-27bd-4f87-ba90-0328ed474950"/>
<display value="aTypingLab, Inc"/>
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<valueCodeableConcept>
<coding>
<system value="http://www.ebi.ac.uk/ipd/imgt/hla"/>
<version value="3.23"/>
<code value="HLA-C*01:02:01G"/>
<display value="HLA-C*01:02:01G"/>
</coding>
</valueCodeableConcept>
<method>
<coding>
<system value="https://www.ncbi.nlm.nih.gov/gtr"/>
<code value="GTR000000000.0"/>
</coding>
<text value="NGS based Class I HLA-A, -B, -C genotyping"/>
</method>
<specimen>
<reference value="urn:uuid:e44fbe33-6084-4ae2-a95e-8bc451c63340"/>
<display value="buccal swab from John Storm"/>
</specimen>
<component>
<code>
<coding>
<system value="http://loinc.org"/>
<code value="48018-6"/>
<display value="Gene studied [ID]"/>
</coding>
</code>
<valueCodeableConcept>
<coding>
<system value="http://www.genenames.org"/>
<code value="HGNC:4933"/>
<display value="HLA-C"/>
</coding>
</valueCodeableConcept>
</component>
</Observation>
</resource>
<request>
<method value="POST"/>
<url value="Observation"/>
</request>
</entry>
<entry>
<fullUrl value="urn:uuid:0e0a780e-4486-4cd0-bfae-7243c579f208"/>
<resource>
<Observation>
<id value="CG-IG-HLA-FullBundle-01-26"/>
<meta>
<profile
value="http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/genotype"/>
</meta>
<text>
<status value="generated"/>
<div xmlns="http://www.w3.org/1999/xhtml"><a name="Observation_CG-IG-HLA-FullBundle-01-26"> </a><p class="res-header-id"><b>Generated Narrative: Observation CG-IG-HLA-FullBundle-01-26</b></p><a name="CG-IG-HLA-FullBundle-01-26"> </a><a name="hcCG-IG-HLA-FullBundle-01-26"> </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-genotype.html">Genotype</a></p></div><p><b>basedOn</b>: <a href="Bundle-bundle-CG-IG-HLA-FullBundle-01.html#urn-uuid-99309303-045e-4cf4-90d7-250d7a7476ea">Class I HLA genotyping for John Storm</a></p><p><b>status</b>: Final</p><p><b>category</b>: <span title="Codes:{http://terminology.hl7.org/CodeSystem/observation-category laboratory}">Laboratory</span>, <span title="Codes:{http://terminology.hl7.org/CodeSystem/v2-0074 GE}">Genetics</span></p><p><b>code</b>: <span title="Codes:{http://loinc.org 84413-4}">Genotype display name</span></p><p><b>subject</b>: <a href="Bundle-bundle-CG-IG-HLA-FullBundle-01.html#urn-uuid-13f34265-335c-4853-bc38-0815315edafa">John Storm</a></p><p><b>effective</b>: 2016-12-15</p><p><b>performer</b>: <a href="Bundle-bundle-CG-IG-HLA-FullBundle-01.html#urn-uuid-9243cc20-27bd-4f87-ba90-0328ed474950">aTypingLab, Inc</a></p><p><b>value</b>: <span title="Codes:{http://glstring.org hla#3.23.0#HLA-C*01:02:01G+HLA-C*03:04:01G}">hla#3.23.0#HLA-C*01:02:01G+HLA-C*03:04:01G</span></p><p><b>method</b>: <span title="Codes:{https://www.ncbi.nlm.nih.gov/gtr GTR000000000.0}">NGS based Class I HLA-A, -B, -C genotyping</span></p><p><b>specimen</b>: <a href="Bundle-bundle-CG-IG-HLA-FullBundle-01.html#urn-uuid-e44fbe33-6084-4ae2-a95e-8bc451c63340">buccal swab from John Storm</a></p><p><b>derivedFrom</b>: </p><ul><li><a href="Bundle-bundle-CG-IG-HLA-FullBundle-01.html#urn-uuid-8b2aa21c-1426-4717-8ab0-a84d83df7d47">HLA-C*03:04:01G, exons 2 and 3</a></li><li><a href="Bundle-bundle-CG-IG-HLA-FullBundle-01.html#urn-uuid-709c5315-9403-4867-9d82-0b953836665f">HLA-C*01:02:01G, exons 2 and 3</a></li></ul><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><span title="Codes:{http://www.genenames.org HGNC:4933}">HLA-C</span></td></tr></table></div>
</text>
<basedOn>
<reference value="urn:uuid:99309303-045e-4cf4-90d7-250d7a7476ea"/>
<type value="ServiceRequest"/>
<display value="Class I HLA genotyping for John Storm"/>
</basedOn>
<status value="final"/>
<category>
<coding>
<system
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<code value="laboratory"/>
</coding>
</category>
<category>
<coding>
<system value="http://terminology.hl7.org/CodeSystem/v2-0074"/>
<code value="GE"/>
</coding>
</category>
<code>
<coding>
<system value="http://loinc.org"/>
<code value="84413-4"/>
<display value="Genotype display name"/>
</coding>
</code>
<subject>
<reference value="urn:uuid:13f34265-335c-4853-bc38-0815315edafa"/>
<type value="Patient"/>
<display value="John Storm"/>
</subject>
<effectiveDateTime value="2016-12-15"/>
<performer>
<reference value="urn:uuid:9243cc20-27bd-4f87-ba90-0328ed474950"/>
<display value="aTypingLab, Inc"/>
</performer>
<valueCodeableConcept>
<coding>
<system value="http://glstring.org"/>
<version value="1.0"/>
<code value="hla#3.23.0#HLA-C*01:02:01G+HLA-C*03:04:01G"/>
</coding>
</valueCodeableConcept>
<method>
<coding>
<system value="https://www.ncbi.nlm.nih.gov/gtr"/>
<code value="GTR000000000.0"/>
</coding>
<text value="NGS based Class I HLA-A, -B, -C genotyping"/>
</method>
<specimen>
<reference value="urn:uuid:e44fbe33-6084-4ae2-a95e-8bc451c63340"/>
<display value="buccal swab from John Storm"/>
</specimen>
<derivedFrom>
<reference value="urn:uuid:8b2aa21c-1426-4717-8ab0-a84d83df7d47"/>
<type value="Observation"/>
<display value="HLA-C*03:04:01G, exons 2 and 3"/>
</derivedFrom>
<derivedFrom>
<reference value="urn:uuid:709c5315-9403-4867-9d82-0b953836665f"/>
<type value="Observation"/>
<display value="HLA-C*01:02:01G, exons 2 and 3"/>
</derivedFrom>
<component>
<code>
<coding>
<system value="http://loinc.org"/>
<code value="48018-6"/>
<display value="Gene studied [ID]"/>
</coding>
</code>
<valueCodeableConcept>
<coding>
<system value="http://www.genenames.org"/>
<code value="HGNC:4933"/>
<display value="HLA-C"/>
</coding>
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</Observation>
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<request>
<method value="POST"/>
<url value="Observation"/>
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</entry>
<entry>
<fullUrl value="urn:uuid:b0a4b18e-94e7-4b1b-8031-c7ae4bdd8db9"/>
<resource>
<DiagnosticReport>
<id value="CG-IG-HLA-FullBundle-01-27"/>
<meta>
<profile
value="http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/genomic-report"/>
</meta>
<text>
<status value="generated"/>
<div xmlns="http://www.w3.org/1999/xhtml"><a name="DiagnosticReport_CG-IG-HLA-FullBundle-01-27"> </a><p class="res-header-id"><b>Generated Narrative: DiagnosticReport CG-IG-HLA-FullBundle-01-27</b></p><a name="CG-IG-HLA-FullBundle-01-27"> </a><a name="hcCG-IG-HLA-FullBundle-01-27"> </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-genomic-report.html">Genomic Report</a></p></div><h2><span title="Codes:{http://loinc.org 51969-4}">Genetic analysis report</span> (<span title="Codes:{http://terminology.hl7.org/CodeSystem/v2-0074 GE}">Genetics</span>) </h2><table class="grid"><tr><td>Subject</td><td>John Storm(official) Male, DoB: 1986-12-31 ( Donor Registration Number (use: usual, period: 2012-11-10 --> (ongoing)))</td></tr><tr><td>When For</td><td>2016-12-15</td></tr><tr><td>Reported</td><td>2016-12-15 14:15:30-0600</td></tr><tr><td>Performer</td><td> <a href="Bundle-bundle-CG-IG-HLA-FullBundle-01.html#urn-uuid-9243cc20-27bd-4f87-ba90-0328ed474950">aTypingLab Inc</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></tr><tr><td><a href="Bundle-bundle-CG-IG-HLA-FullBundle-01.html#urn-uuid-49a86246-4004-42eb-9bdc-f542f93f9228"><span title="Codes:{http://loinc.org 84413-4}">Genotype display name</span></a></td><td><span title="Codes:{http://glstring.org hla#3.23.0#HLA-A:01:01G+HLA-A*01:02}">hla#3.23.0#HLA-A:01:01G+HLA-A*01:02</span></td><td>Final</td></tr><tr><td><a href="Bundle-bundle-CG-IG-HLA-FullBundle-01.html#urn-uuid-60613a43-c4cb-4502-b3e2-cf9215feaa70"><span title="Codes:{http://loinc.org 84413-4}">Genotype display name</span></a></td><td><span title="Codes:{http://glstring.org hla#3.23.0#HLA-B*15:01:01G+HLA-B*57:01:01G}">hla#3.23.0#HLA-B*15:01:01G+HLA-B*57:01:01G</span></td><td>Final</td></tr><tr><td><a href="Bundle-bundle-CG-IG-HLA-FullBundle-01.html#urn-uuid-0e0a780e-4486-4cd0-bfae-7243c579f208"><span title="Codes:{http://loinc.org 84413-4}">Genotype display name</span></a></td><td><span title="Codes:{http://glstring.org hla#3.23.0#HLA-C*01:02:01G+HLA-C*03:04:01G}">hla#3.23.0#HLA-C*01:02:01G+HLA-C*03:04:01G</span></td><td>Final</td></tr></table></div>
</text>
<extension
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<coding>
<system value="http://www.ebi.ac.uk/ipd/imgt/hla"/>
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<extension
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<extension url="text">
<valueString
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</extension>
<extension url="url">
<valueUri
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<basedOn>
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<specimen>
<reference value="urn:uuid:e44fbe33-6084-4ae2-a95e-8bc451c63340"/>
<display value="buccal swab from John Storm"/>
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<reference value="urn:uuid:49a86246-4004-42eb-9bdc-f542f93f9228"/>
<type value="Observation"/>
<display value="HLA-A: HLA-A:01:01:01G+HLA-A*01:02"/>
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<result>
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<type value="Observation"/>
<display value="HLA-B: HLA-B*15:01:01G+HLA-B*57:01:01G"/>
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<result>
<reference value="urn:uuid:0e0a780e-4486-4cd0-bfae-7243c579f208"/>
<type value="Observation"/>
<display value="HLA-C: HLA-C*01:02:01G+HLA-C*03:04:01G"/>
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<request>
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<url value="DiagnosticReport"/>
</request>
</entry>
</Bundle>
IG © 2025+ HL7 International / Clinical Genomics. Package hl7.fhir.uv.genomics-reporting#4.0.0-ballot based on FHIR 6.0.0-ballot3. Generated 2025-10-16
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