Genomics Reporting Implementation Guide
1.1.0 - Ballot
Genomics Reporting Implementation Guide
1.1.0 - Ballot
This page is part of the Genetic Reporting Implementation Guide (v1.1.0: STU 2 Ballot 1) based on FHIR R4. The current version which supercedes this version is 2.0.0. For a full list of available versions, see the Directory of published versions 
<!--
Bob Milius - NMDP - 2018-03-29
This bundle contains two sets of resoures.
The first part contains resources that would be pre-created.
Assume these are already created ahead of time before the HLA report bundle is created.
You would use the resources created here for those in the report bundle.
Transaction bundle that creates and links:
+ Patient (potential donor, John Storm)
+ Specimen from that Patient, which was collected as a buccal swab
+ Organization of Typing Lab (aTypingLab, Inc)
+ Organization of donor registry (aDonorRegistry)
+ ServiceRequest for HLA-A,-B,-C typing of patient(donor)
The second part of this bundle contains the resources that would be contained
in a separate transaction bundle to be sent as the HLA typing report.
and include the following:
+ DiagnosticReport summarizing genotyping for HLA-A,-B,-C typing of patient(donor)
+ Genotype Obervations for each gene
+ Haplotype Observations containing individual alleles
+ MolecularSequences for exons 2 and 3 for HLA-A,-B,-C
-->
<Bundle xmlns="http://hl7.org/fhir">
<id value="CG-IG-HLA-FullBundle-01"/>
<type value="transaction"/>
<!-- now, each entry is an action to take in the transaction -->
<!-- Patient -->
<entry>
<fullUrl value="urn:uuid:13f34265-335c-4853-bc38-0815315edafa"/>
<resource>
<Patient>
<text>
<status value="generated"/>
<div xmlns="http://www.w3.org/1999/xhtml">
<h4>Donor </h4>
<p>name: John Storm</p>
<p>gender: male</p>
<p>born: 1986-12-31</p>
</div>
</text>
<identifier>
<use value="usual"/>
<type>
<coding>
<system value="http://terminology.hl7.org/CodeSystem/v2-0203"/>
<code value="DR"/>
</coding>
</type>
<system value="urn:oid:0.0.0.0.0.0.0"/>
<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>
</resource>
<!-- now, details about the action to take with the resource -->
<request>
<method value="POST"/>
<url value="Patient"/>
</request>
</entry>
<!-- Specimen -->
<entry>
<fullUrl value="urn:uuid:e44fbe33-6084-4ae2-a95e-8bc451c63340"/>
<resource>
<Specimen>
<meta>
<profile
value="http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/specimen"/>
</meta>
<text>
<status value="generated"/>
<div xmlns="http://www.w3.org/1999/xhtml">
<pre>a buccal swab</pre>
</div>
</text>
<identifier>
<system value="http://myorgsurl.com"/>
<value value="123"/>
</identifier>
<accessionIdentifier>
<system value="http://mylabsurl.com"/>
<value value="456"/>
</accessionIdentifier>
<type>
<coding>
<system value="http://snomed.info/sct"/>
<code value="122555007"/>
<display value="Venous blood specimen"/>
</coding>
</type>
<subject>
<reference value="urn:uuid:13f34265-335c-4853-bc38-0815315edafa"/>
<type value="Patient"/>
<display value="John Storm"/>
</subject>
</Specimen>
</resource>
<!-- now, details about the action to take with the resource -->
<request>
<method value="POST"/>
<url value="Specimen"/>
</request>
</entry>
<!-- Organization - typing lab -->
<entry>
<fullUrl value="urn:uuid:9243cc20-27bd-4f87-ba90-0328ed474950"/>
<resource>
<Organization>
<text>
<status value="generated"/>
<div xmlns="http://www.w3.org/1999/xhtml">
<pre>aTypingLab, Inc</pre>
</div>
</text>
<name value="aTypingLab Inc"/>
<alias value="aTL"/>
<telecom>
<system value="phone"/>
<value value="1-800-555-1234"/>
<use value="work"/>
<rank value="1"/>
</telecom>
<address>
<use value="work"/>
<type value="both"/>
<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>
</Organization>
</resource>
<!-- transaction details -->
<request>
<method value="POST"/>
<url value="Organization"/>
</request>
</entry>
<!-- Organization - donor registry -->
<entry>
<fullUrl value="urn:uuid:00ef18ad-ed04-4b2c-81ee-b69bb243f0d5"/>
<resource>
<Organization>
<text>
<status value="generated"/>
<div xmlns="http://www.w3.org/1999/xhtml">
<pre>aDonorRegistry</pre>
</div>
</text>
<name value="aDonorRegistry"/>
<alias value="ADR"/>
<telecom>
<system value="phone"/>
<value value="1-800-555-6789"/>
<use value="work"/>
<rank value="1"/>
</telecom>
<address>
<use value="work"/>
<type value="both"/>
<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>
</Organization>
</resource>
<!-- transaction details -->
<request>
<method value="POST"/>
<url value="Organization"/>
</request>
</entry>
<!-- ServiceRequest -->
<entry>
<fullUrl value="urn:uuid:99309303-045e-4cf4-90d7-250d7a7476ea"/>
<resource>
<ServiceRequest>
<meta>
<profile
value="http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/servicerequest"/>
</meta>
<text>
<status value="generated"/>
<div xmlns="http://www.w3.org/1999/xhtml">
<pre>HLA typing request for John Storm</pre>
</div>
</text>
<status value="completed"/>
<intent value="order"/>
<code>
<coding>
<system value="http://loinc.org"/>
<code value="13303-3"/>
<display value="HLA-A+B+C (class I) [Type]"/>
</coding>
</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>
<reasonCode>
<text value="tissue typing for donor registry"/>
</reasonCode>
</ServiceRequest>
</resource>
<!-- transaction details -->
<request>
<method value="POST"/>
<url value="ServiceRequest"/>
</request>
</entry>
<!-- the following is the actual genotyping actual report for HLA-A, -B, and -C -->
<!-- MolecularSequence, HLA-A*01:01:01:01, exon 2 -->
<entry>
<fullUrl value="urn:uuid:8200dab6-18a2-4550-b913-a7db480c0804"/>
<resource>
<MolecularSequence>
<text>
<status value="generated"/>
<div xmlns="http://www.w3.org/1999/xhtml">
<pre>"HLA-A*01:01:01:01, exon 2"</pre>
</div>
</text>
<type value="dna"/>
<coordinateSystem value="0"/>
<referenceSeq>
<referenceSeqId>
<coding>
<system value="http://www.ebi.ac.uk/ipd/imgt/hla"/>
<version value="3.23"/>
<code value="HLA00001"/>
</coding>
<text value="HLA-A*01:01:01:01"/>
</referenceSeqId>
<windowStart value="503"/>
<windowEnd value="773"/>
</referenceSeq>
<observedSeq
value="GCTCCCACTCCATGAGGTATTTCTTCACATCCGTGTCCCGGCCCGGCCGCGGGGAGCCCCGCTTCATCGCCGTGGGCTACGTGGACGACACGCAGTTCGTGCGGTTCGACAGCGACGCCGCGAGCCAGAAGATGGAGCCGCGGGCGCCGTGGATAGAGCAGGAGGGGCCGGAGTATTGGGACCAGGAGACACGGAATATGAAGGCCCACTCACAGACTGACCGAGCGAACCTGGGGACCCTGCGCGGCTACTACAACCAGAGCGAGGACG"/>
</MolecularSequence>
</resource>
<!-- transaction details -->
<request>
<method value="POST"/>
<url value="MolecularSequence"/>
</request>
</entry>
<!-- MolecularSequence, HLA-A*01:01:01:01, exon 3 -->
<entry>
<fullUrl value="urn:uuid:7c393185-f15c-45bc-a714-c0fdbea32675"/>
<resource>
<MolecularSequence>
<text>
<status value="generated"/>
<div xmlns="http://www.w3.org/1999/xhtml">
<pre>"HLA-A*01:01:01:01, exon 3"</pre>
</div>
</text>
<type value="dna"/>
<coordinateSystem value="0"/>
<referenceSeq>
<referenceSeqId>
<coding>
<system value="http://www.ebi.ac.uk/ipd/imgt/hla"/>
<version value="3.23"/>
<code value="HLA00001"/>
</coding>
<text value="HLA-A*01:01:01:01"/>
</referenceSeqId>
<windowStart value="1014"/>
<windowEnd value="1290"/>
</referenceSeq>
<observedSeq
value="GTTCTCACACCATCCAGATAATGTATGGCTGCGACGTGGGGCCGGACGGGCGCTTCCTCCGCGGGTACCGGCAGGACGCCTACGACGGCAAGGATTACATCGCCCTGAACGAGGACCTGCGCTCTTGGACCGCGGCGGACATGGCAGCTCAGATCACCAAGCGCAAGTGGGAGGCGGTCCATGCGGCGGAGCAGCGGAGAGTCTACCTGGAGGGCCGGTGCGTGGACGGGCTCCGCAGATACCTGGAGAACGGGAAGGAGACGCTGCAGCGCACGG"/>
</MolecularSequence>
</resource>
<!-- transaction details -->
<request>
<method value="POST"/>
<url value="MolecularSequence"/>
</request>
</entry>
<!-- MolecularSequence, HLA-A*01:02, exon 2 -->
<entry>
<fullUrl value="urn:uuid:65c85f14-c3a0-4b72-818f-820e04fcc621"/>
<resource>
<MolecularSequence>
<text>
<status value="generated"/>
<div xmlns="http://www.w3.org/1999/xhtml">
<pre>"HLA-A*01:02, exon 2"</pre>
</div>
</text>
<type value="dna"/>
<coordinateSystem value="0"/>
<referenceSeq>
<referenceSeqId>
<coding>
<system value="http://www.ebi.ac.uk/ipd/imgt/hla"/>
<version value="3.23"/>
<code value="HLA00002"/>
</coding>
<text value="HLA-A*01:02"/>
</referenceSeqId>
<windowStart value="503"/>
<windowEnd value="773"/>
</referenceSeq>
<observedSeq
value="GCTCCCACTCCATGAGGTATTTCTCCACATCCGTGTCCCGGCCCGGCAGTGGAGAGCCCCGCTTCATCGCAGTGGGCTACGTGGACGACACGCAGTTCGTGCGGTTCGACAGCGACGCCGCGAGCCAGAAGATGGAGCCGCGGGCGCCGTGGATAGAGCAGGAGGGGCCGGAGTATTGGGACCAGGAGACACGGAATATGAAGGCCCACTCACAGACTGACCGAGCGAACCTGGGGACCCTGCGCGGCTACTACAACCAGAGCGAGGACG"/>
</MolecularSequence>
</resource>
<!-- transaction details -->
<request>
<method value="POST"/>
<url value="MolecularSequence"/>
</request>
</entry>
<!-- MolecularSequence, HLA-A*01:02, exon 3 -->
<entry>
<fullUrl value="urn:uuid:fbba9fe7-0ece-4ec1-9233-a437a8d242a0"/>
<resource>
<MolecularSequence>
<text>
<status value="generated"/>
<div xmlns="http://www.w3.org/1999/xhtml">
<pre>"HLA-A*01:02, exon 3"</pre>
</div>
</text>
<type value="dna"/>
<coordinateSystem value="0"/>
<referenceSeq>
<referenceSeqId>
<coding>
<system value="http://www.ebi.ac.uk/ipd/imgt/hla"/>
<version value="3.23"/>
<code value="HLA00002"/>
</coding>
<text value="HLA-A*01:02"/>
</referenceSeqId>
<windowStart value="1014"/>
<windowEnd value="1290"/>
</referenceSeq>
<observedSeq
value="GTTCTCACACCATCCAGATAATGTATGGCTGCGACGTGGGGCCGGACGGGCGCTTCCTCCGCGGGTACCGGCAGGACGCCTACGACGGCAAGGATTACATCGCCCTGAACGAGGACCTGCGCTCTTGGACCGCGGCGGACATGGCAGCTCAGATCACCAAGCGCAAGTGGGAGGCGGTCCATGCGGCGGAGCAGCGGAGAGTCTACCTGGAGGGCCGGTGCGTGGACGGGCTCCGCAGATACCTGGAGAACGGGAAGGAGACGCTGCAGCGCACGG"/>
</MolecularSequence>
</resource>
<!-- transaction details -->
<request>
<method value="POST"/>
<url value="MolecularSequence"/>
</request>
</entry>
<!-- haplotype Observation for allele assignment : HLA-A:01:01:01G -->
<entry>
<fullUrl value="urn:uuid:b7765bbf-df40-486a-9f2f-404309643de6"/>
<!-- now under ObsRegionStudied -Chi
<component>
<code>
<coding>
<system value="http://loinc.org"/>
<code value="81293-3"/>
<display value="Description of ranges of DNA sequences examined"/>
</coding>
</code>
<valueCodeableConcept>
<text value="Exons 2 and 3"/>
</valueCodeableConcept>
</component>
-->
<resource>
<Observation>
<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">
<pre>HLA-A:01:01:01G</pre>
</div>
</text>
<status value="final"/>
<category>
<coding>
<system
value="http://terminology.hl7.org/CodeSystem/observation-category"/>
<code value="laboratory"/>
</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"/>
<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="http://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:8200dab6-18a2-4550-b913-a7db480c0804"/>
<type value="MolecularSequence"/>
<display value="HLA-A*01:01:01:01, exon 2"/>
</derivedFrom>
<derivedFrom>
<reference value="urn:uuid:7c393185-f15c-45bc-a714-c0fdbea32675"/>
<type value="MolecularSequence"/>
<display value="HLA-A*01:01:01:01, exon 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/geneId"/>
<code value="HGNC:4931"/>
<display value="HLA-A"/>
</coding>
</valueCodeableConcept>
</component>
</Observation>
</resource>
<!-- transaction details -->
<request>
<method value="POST"/>
<url value="Observation"/>
</request>
</entry>
<!-- haplotype Observation, allele assignment : HLA-A*01:02 -->
<entry>
<fullUrl value="urn:uuid:d98d92a7-0e86-4ae5-b036-b7e1bba6ec32"/>
<!-- now under ObsRegionStudied -Chi
<component>
<code>
<coding>
<system value="http://loinc.org"/>
<code value="81293-3"/>
<display value="Description of ranges of DNA sequences examined"/>
</coding>
</code>
<valueCodeableConcept>
<text value="Exons 2 and 3"/>
</valueCodeableConcept>
</component>
-->
<resource>
<Observation>
<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">
<pre>HLA-A*01:02</pre>
</div>
</text>
<status value="final"/>
<category>
<coding>
<system
value="http://terminology.hl7.org/CodeSystem/observation-category"/>
<code value="laboratory"/>
</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"/>
<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="http://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:65c85f14-c3a0-4b72-818f-820e04fcc621"/>
<type value="MolecularSequence"/>
<display value="HLA-A*01:02, exon 2"/>
</derivedFrom>
<derivedFrom>
<reference value="urn:uuid:fbba9fe7-0ece-4ec1-9233-a437a8d242a0"/>
<type value="MolecularSequence"/>
<display value="HLA-A*01:02, exon 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/geneId"/>
<code value="HGNC:4931"/>
<display value="HLA-A"/>
</coding>
</valueCodeableConcept>
</component>
</Observation>
</resource>
<!-- transaction details -->
<request>
<method value="POST"/>
<url value="Observation"/>
</request>
</entry>
<!-- genotype Observation for HLA-A -->
<entry>
<fullUrl value="urn:uuid:49a86246-4004-42eb-9bdc-f542f93f9228"/>
<resource>
<Observation>
<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">
<pre>HLA-A:01:01G+HLA-A*01:02</pre>
</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>
<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"/>
<valueCodeableConcept>
<coding>
<system value="http://glstring.org"/>
<version value="1.0"/>
<code value="hla#3.23.0#HLA-A:01:01G+HLA-A*01:02"/>
</coding>
</valueCodeableConcept>
<method>
<coding>
<system value="http://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>
<!-- deriveFrom are Haplotype observations -->
<derivedFrom>
<reference value="urn:uuid:b7765bbf-df40-486a-9f2f-404309643de6"/>
<type value="Observation"/>
<display value="HLA-A*01:01:01G, exons 2 and 3"/>
</derivedFrom>
<derivedFrom>
<reference value="urn:uuid:d98d92a7-0e86-4ae5-b036-b7e1bba6ec32"/>
<type value="Observation"/>
<display value="HLA-A*01:02, exons 2 and 3"/>
</derivedFrom>
<!-- these are inherited from http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/obs-comp-gen-finding -->
<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/geneId"/>
<code value="HGNC:4931"/>
<display value="HLA-A"/>
</coding>
</valueCodeableConcept>
</component>
</Observation>
</resource>
<!-- transaction details -->
<request>
<method value="POST"/>
<url value="Observation"/>
</request>
</entry>
<!-- HLA-B -->
<!-- MolecularSequence, HLA-B*15:01:01:01, exon 2 -->
<entry>
<fullUrl value="urn:uuid:cbabf93e-1b4b-46f2-ba1e-d84862670670"/>
<resource>
<MolecularSequence>
<text>
<status value="generated"/>
<div xmlns="http://www.w3.org/1999/xhtml">
<pre>"HLA-B*15:01:01:01, exon 2"</pre>
</div>
</text>
<type value="dna"/>
<coordinateSystem value="0"/>
<referenceSeq>
<referenceSeqId>
<coding>
<system value="http://www.ebi.ac.uk/ipd/imgt/hla"/>
<version value="3.23"/>
<code value="HLA00162"/>
</coding>
<text value="HLA-B*15:01:01:01"/>
</referenceSeqId>
<windowStart value="486"/>
<windowEnd value="756"/>
</referenceSeq>
<observedSeq
value="GCTCCCACTCCATGAGGTATTTCTACACCGCCATGTCCCGGCCCGGCCGCGGGGAGCCCCGCTTCATCGCAGTGGGCTACGTGGACGACACCCAGTTCGTGAGGTTCGACAGCGACGCCGCGAGTCCGAGGATGGCGCCCCGGGCGCCATGGATAGAGCAGGAGGGGCCGGAGTATTGGGACCGGGAGACACAGATCTCCAAGACCAACACACAGACTTACCGAGAGAGCCTGCGGAACCTGCGCGGCTACTACAACCAGAGCGAGGCCG"/>
</MolecularSequence>
</resource>
<!-- transaction details -->
<request>
<method value="POST"/>
<url value="MolecularSequence"/>
</request>
</entry>
<!-- MolecularSequence, HLA-B*15:01:01:01, exon 3 -->
<entry>
<fullUrl value="urn:uuid:c233ad3d-1572-48d6-93da-0a583535e138"/>
<resource>
<MolecularSequence>
<text>
<status value="generated"/>
<div xmlns="http://www.w3.org/1999/xhtml">
<pre>"HLA-B*15:01:01:01, exon 3"</pre>
</div>
</text>
<type value="dna"/>
<coordinateSystem value="0"/>
<referenceSeq>
<referenceSeqId>
<coding>
<system value="http://www.ebi.ac.uk/ipd/imgt/hla"/>
<version value="3.23"/>
<code value="HLA00162"/>
</coding>
<text value="HLA-B*15:01:01:01"/>
</referenceSeqId>
<windowStart value="1001"/>
<windowEnd value="1277"/>
</referenceSeq>
<observedSeq
value="GGTCTCACACCCTCCAGAGGATGTACGGCTGCGACGTGGGGCCGGACGGGCGCCTCCTCCGCGGGCATGACCAGTCCGCCTACGACGGCAAGGATTACATCGCCCTGAACGAGGACCTGAGCTCCTGGACCGCGGCGGACACGGCGGCTCAGATCACCCAGCGCAAGTGGGAGGCGGCCCGTGAGGCGGAGCAGTGGAGAGCCTACCTGGAGGGCCTGTGCGTGGAGTGGCTCCGCAGATACCTGGAGAACGGGAAGGAGACGCTGCAGCGCGCGG"/>
</MolecularSequence>
</resource>
<!-- transaction details -->
<request>
<method value="POST"/>
<url value="MolecularSequence"/>
</request>
</entry>
<!-- MolecularSequence, HLA-B*57:01:01, exon 2 -->
<entry>
<fullUrl value="urn:uuid:05fa52d7-5c67-460a-8722-d3460b24d6fe"/>
<resource>
<MolecularSequence>
<text>
<status value="generated"/>
<div xmlns="http://www.w3.org/1999/xhtml">
<pre>"HLA-B*57:01:01, exon 2"</pre>
</div>
</text>
<type value="dna"/>
<coordinateSystem value="0"/>
<referenceSeq>
<referenceSeqId>
<coding>
<system value="http://www.ebi.ac.uk/ipd/imgt/hla"/>
<version value="3.23"/>
<code value="HLA00381"/>
</coding>
<text value="HLA-B*57:01:01"/>
</referenceSeqId>
<windowStart value="485"/>
<windowEnd value="755"/>
</referenceSeq>
<observedSeq
value="GCTCCCACTCCATGAGGTATTTCTACACCGCCATGTCCCGGCCCGGCCGCGGGGAGCCCCGCTTCATCGCAGTGGGCTACGTGGACGACACCCAGTTCGTGAGGTTCGACAGCGACGCCGCGAGTCCGAGGATGGCGCCCCGGGCGCCATGGATAGAGCAGGAGGGGCCGGAGTATTGGGACGGGGAGACACGGAACATGAAGGCCTCCGCGCAGACTTACCGAGAGAACCTGCGGATCGCGCTCCGCTACTACAACCAGAGCGAGGCCG"/>
</MolecularSequence>
</resource>
<!-- transaction details -->
<request>
<method value="POST"/>
<url value="MolecularSequence"/>
</request>
</entry>
<!-- MolecularSequence, HLA-B*57:01:01, exon 3 -->
<entry>
<fullUrl value="urn:uuid:db69e549-6267-4777-b4b9-8813f3329309"/>
<resource>
<MolecularSequence>
<text>
<status value="generated"/>
<div xmlns="http://www.w3.org/1999/xhtml">
<pre>"HLA-B*57:01:01, exon 3"</pre>
</div>
</text>
<type value="dna"/>
<coordinateSystem value="0"/>
<referenceSeq>
<referenceSeqId>
<coding>
<system value="http://www.ebi.ac.uk/ipd/imgt/hla"/>
<version value="3.23"/>
<code value="HLA00381"/>
</coding>
<text value="HLA-B*57:01:01"/>
</referenceSeqId>
<windowStart value="1001"/>
<windowEnd value="1277"/>
</referenceSeq>
<observedSeq
value="GGTCTCACATCATCCAGGTGATGTATGGCTGCGACGTGGGGCCGGACGGGCGCCTCCTCCGCGGGCATGACCAGTCCGCCTACGACGGCAAGGATTACATCGCCCTGAACGAGGACCTGAGCTCCTGGACCGCGGCGGACACGGCGGCTCAGATCACCCAGCGCAAGTGGGAGGCGGCCCGTGTGGCGGAGCAGCTGAGAGCCTACCTGGAGGGCCTGTGCGTGGAGTGGCTCCGCAGATACCTGGAGAACGGGAAGGAGACGCTGCAGCGCGCGG"/>
</MolecularSequence>
</resource>
<!-- transaction details -->
<request>
<method value="POST"/>
<url value="MolecularSequence"/>
</request>
</entry>
<!-- haplotype Observation for allele assignment : HLA-B*15:01:01G -->
<entry>
<fullUrl value="urn:uuid:e2092243-2970-49d2-a90f-b90d1d49715a"/>
<!-- now under ObsRegionStudied -Chi
<component>
<code>
<coding>
<system value="http://loinc.org"/>
<code value="81293-3"/>
<display value="Description of ranges of DNA sequences examined"/>
</coding>
</code>
<valueCodeableConcept>
<text value="Exons 2 and 3"/>
</valueCodeableConcept>
</component>
-->
<resource>
<Observation>
<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">
<pre>HLA-B*15:01:01G</pre>
</div>
</text>
<status value="final"/>
<category>
<coding>
<system
value="http://terminology.hl7.org/CodeSystem/observation-category"/>
<code value="laboratory"/>
</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"/>
<valueCodeableConcept>
<coding>
<system value="http://www.ebi.ac.uk/ipd/imgt/hla"/>
<version value="3.23"/>
<code value="HGG00041"/>
<display value="HLA-B*15:01:01G"/>
</coding>
</valueCodeableConcept>
<method>
<coding>
<system value="http://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:cbabf93e-1b4b-46f2-ba1e-d84862670670"/>
<type value="MolecularSequence"/>
<display value="HLA-B*15:01:01:01, exon 2"/>
</derivedFrom>
<derivedFrom>
<reference value="urn:uuid:c233ad3d-1572-48d6-93da-0a583535e138"/>
<type value="MolecularSequence"/>
<display value="HLA-B*15:01:01:01, exon 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/geneId"/>
<code value="HGNC:4932"/>
<display value="HLA-B"/>
</coding>
</valueCodeableConcept>
</component>
</Observation>
</resource>
<!-- transaction details -->
<request>
<method value="POST"/>
<url value="Observation"/>
</request>
</entry>
<!-- haplotype Observation, allele assignment : HLA-B*57:01:01G -->
<entry>
<fullUrl value="urn:uuid:792be53e-d4fb-4887-a367-815ef6c706e5"/>
<resource>
<Observation>
<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">
<pre>HLA-B*57:01:01G</pre>
</div>
</text>
<status value="final"/>
<category>
<coding>
<system
value="http://terminology.hl7.org/CodeSystem/observation-category"/>
<code value="laboratory"/>
</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"/>
<valueCodeableConcept>
<coding>
<system value="http://www.ebi.ac.uk/ipd/imgt/hla"/>
<version value="3.23"/>
<code value="HLA-B*57:01:01G"/>
<display value="HLA-B*57:01:01G"/>
</coding>
</valueCodeableConcept>
<method>
<coding>
<system value="http://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:05fa52d7-5c67-460a-8722-d3460b24d6fe"/>
<type value="MolecularSequence"/>
<display value="HLA-B*57:01:01, exon 2"/>
</derivedFrom>
<derivedFrom>
<reference value="urn:uuid:db69e549-6267-4777-b4b9-8813f3329309"/>
<type value="MolecularSequence"/>
<display value="HLA-B*57:01:01, exon 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/geneId"/>
<code value="HGNC:4932"/>
<display value="HLA-B"/>
</coding>
</valueCodeableConcept>
</component>
</Observation>
</resource>
<!-- transaction details -->
<request>
<method value="POST"/>
<url value="Observation"/>
</request>
</entry>
<!-- genotype Observation for HLA-B -->
<entry>
<fullUrl value="urn:uuid:60613a43-c4cb-4502-b3e2-cf9215feaa70"/>
<resource>
<Observation>
<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">
<pre>HLA-B*15:01:01G+HLA-B*57:01:01G</pre>
</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>
<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"/>
<valueCodeableConcept>
<coding>
<system value="http://glstring.org"/>
<version value="1.0"/>
<code value="hla#3.23.0#HLA-B*15:01:01G+HLA-B*57:01:01G"/>
</coding>
</valueCodeableConcept>
<method>
<coding>
<system value="http://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 are Haplotype observations -->
<derivedFrom>
<reference value="urn:uuid:e2092243-2970-49d2-a90f-b90d1d49715a"/>
<type value="Observation"/>
<display value="HLA-B*15:01:01G, exons 2 and 3"/>
</derivedFrom>
<derivedFrom>
<reference value="urn:uuid:792be53e-d4fb-4887-a367-815ef6c706e5"/>
<type value="Observation"/>
<display value="HLA-B*57:01:01G, 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/geneId"/>
<code value="HGNC:4932"/>
<display value="HLA-B"/>
</coding>
</valueCodeableConcept>
</component>
</Observation>
</resource>
<!-- transaction details -->
<request>
<method value="POST"/>
<url value="Observation"/>
</request>
</entry>
<!-- HLA-C -->
<!-- MolecularSequence, HLA-C*01:02:01, exon 2 -->
<entry>
<fullUrl value="urn:uuid:bb55c2bc-5ad2-4bc1-8ff3-c407d06b12d0"/>
<resource>
<MolecularSequence>
<text>
<status value="generated"/>
<div xmlns="http://www.w3.org/1999/xhtml">
<pre>"HLA-C*01:02:01, exon 2"</pre>
</div>
</text>
<type value="dna"/>
<coordinateSystem value="0"/>
<referenceSeq>
<referenceSeqId>
<coding>
<system value="http://www.ebi.ac.uk/ipd/imgt/hla"/>
<version value="3.23"/>
<code value="HLA00401"/>
</coding>
<text value="HLA-C*01:02:01"/>
</referenceSeqId>
<windowStart value="486"/>
<windowEnd value="756"/>
</referenceSeq>
<observedSeq
value="GCTCCCACTCCATGAAGTATTTCTTCACATCCGTGTCCCGGCCTGGCCGCGGAGAGCCCCGCTTCATCTCAGTGGGCTACGTGGACGACACGCAGTTCGTGCGGTTCGACAGCGACGCCGCGAGTCCGAGAGGGGAGCCGCGGGCGCCGTGGGTGGAGCAGGAGGGGCCGGAGTATTGGGACCGGGAGACACAGAAGTACAAGCGCCAGGCACAGACTGACCGAGTGAGCCTGCGGAACCTGCGCGGCTACTACAACCAGAGCGAGGCCG"/>
</MolecularSequence>
</resource>
<!-- transaction details -->
<request>
<method value="POST"/>
<url value="MolecularSequence"/>
</request>
</entry>
<!-- MolecularSequence, HLA-C*01:02:01, exon 3 -->
<entry>
<fullUrl value="urn:uuid:46938bb2-0486-4e87-bfd3-89aab2d5e22f"/>
<resource>
<MolecularSequence>
<text>
<status value="generated"/>
<div xmlns="http://www.w3.org/1999/xhtml">
<pre>"HLA-C*01:02:01, exon 3"</pre>
</div>
</text>
<type value="dna"/>
<coordinateSystem value="0"/>
<referenceSeq>
<referenceSeqId>
<coding>
<system value="http://www.ebi.ac.uk/ipd/imgt/hla"/>
<version value="3.23"/>
<code value="HLA00401"/>
</coding>
<text value="HLA-C*01:02:01"/>
</referenceSeqId>
<windowStart value="1002"/>
<windowEnd value="1278"/>
</referenceSeq>
<observedSeq
value="GGTCTCACACCCTCCAGTGGATGTGTGGCTGCGACCTGGGGCCCGACGGGCGCCTCCTCCGCGGGTATGACCAGTACGCCTACGACGGCAAGGATTACATCGCCCTGAACGAGGACCTGCGCTCCTGGACCGCCGCGGACACCGCGGCTCAGATCACCCAGCGCAAGTGGGAGGCGGCCCGTGAGGCGGAGCAGCGGAGAGCCTACCTGGAGGGCACGTGCGTGGAGTGGCTCCGCAGATACCTGGAGAACGGGAAGGAGACGCTGCAGCGCGCGG"/>
</MolecularSequence>
</resource>
<!-- transaction details -->
<request>
<method value="POST"/>
<url value="MolecularSequence"/>
</request>
</entry>
<!-- MolecularSequence, HLA-C*03:04:01:01, exon 2 -->
<entry>
<fullUrl value="urn:uuid:2ae2ff34-279e-43c2-9018-b054fd3fc1ce"/>
<resource>
<MolecularSequence>
<text>
<status value="generated"/>
<div xmlns="http://www.w3.org/1999/xhtml">
<pre>"HLA-C*03:04:01:01, exon 2"</pre>
</div>
</text>
<type value="dna"/>
<coordinateSystem value="0"/>
<referenceSeq>
<referenceSeqId>
<coding>
<system value="http://www.ebi.ac.uk/ipd/imgt/hla"/>
<version value="3.23"/>
<code value="HLA00413"/>
</coding>
<text value="HLA-C*03:04:01:01"/>
</referenceSeqId>
<windowStart value="486"/>
<windowEnd value="756"/>
</referenceSeq>
<observedSeq
value="GCTCCCACTCCATGAGGTATTTCTACACCGCTGTGTCCCGGCCCGGCCGCGGGGAGCCCCACTTCATCGCAGTGGGCTACGTGGACGACACGCAGTTCGTGCGGTTCGACAGCGACGCCGCGAGTCCGAGAGGGGAGCCGCGGGCGCCGTGGGTGGAGCAGGAGGGGCCGGAGTATTGGGACCGGGAGACACAGAAGTACAAGCGCCAGGCACAGACTGACCGAGTGAGCCTGCGGAACCTGCGCGGCTACTACAACCAGAGCGAGGCCG"/>
</MolecularSequence>
</resource>
<!-- transaction details -->
<request>
<method value="POST"/>
<url value="MolecularSequence"/>
</request>
</entry>
<!-- MolecularSequence, HLA-C*03:04:01:01, exon 3 -->
<entry>
<fullUrl value="urn:uuid:19153ef1-68c6-47a2-9676-c4eefbd39af9"/>
<resource>
<MolecularSequence>
<text>
<status value="generated"/>
<div xmlns="http://www.w3.org/1999/xhtml">
<pre>"HLA-C*03:04:01:01, exon 3"</pre>
</div>
</text>
<type value="dna"/>
<coordinateSystem value="0"/>
<referenceSeq>
<referenceSeqId>
<coding>
<system value="http://www.ebi.ac.uk/ipd/imgt/hla"/>
<version value="3.23"/>
<code value="HLA00413"/>
</coding>
<text value="HLA-C*03:04:01:01"/>
</referenceSeqId>
<windowStart value="1001"/>
<windowEnd value="1277"/>
</referenceSeq>
<observedSeq
value="GGTCTCACATCATCCAGAGGATGTATGGCTGCGACGTGGGGCCCGACGGGCGCCTCCTCCGCGGGTATGACCAGTACGCCTACGACGGCAAGGATTACATCGCCCTGAACGAGGATCTGCGCTCCTGGACCGCCGCGGACACGGCGGCTCAGATCACCCAGCGCAAGTGGGAGGCGGCCCGTGAGGCGGAGCAGCTGAGAGCCTACCTGGAGGGCCTGTGCGTGGAGTGGCTCCGCAGATACCTGAAGAATGGGAAGGAGACGCTGCAGCGCGCGG"/>
</MolecularSequence>
</resource>
<!-- transaction details -->
<request>
<method value="POST"/>
<url value="MolecularSequence"/>
</request>
</entry>
<!-- haplotype Observation, allele assignment : HLA-C*01:02:01 -->
<entry>
<fullUrl value="urn:uuid:709c5315-9403-4867-9d82-0b953836665f"/>
<resource>
<Observation>
<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">
<pre>HLA-C*01:02:01G</pre>
</div>
</text>
<status value="final"/>
<category>
<coding>
<system
value="http://terminology.hl7.org/CodeSystem/observation-category"/>
<code value="laboratory"/>
</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"/>
<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="http://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:bb55c2bc-5ad2-4bc1-8ff3-c407d06b12d0"/>
<type value="MolecularSequence"/>
<display value="HLA-C*01:02:01, exon 2"/>
</derivedFrom>
<derivedFrom>
<reference value="urn:uuid:46938bb2-0486-4e87-bfd3-89aab2d5e22f"/>
<type value="MolecularSequence"/>
<display value="HLA-C*01:02:01, exon 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/geneId"/>
<code value="HGNC:4933"/>
<display value="HLA-C"/>
</coding>
</valueCodeableConcept>
</component>
</Observation>
</resource>
<!-- transaction details -->
<request>
<method value="POST"/>
<url value="Observation"/>
</request>
</entry>
<!-- haplotype Observation, allele assignment : HLA-C*03:04:01G -->
<entry>
<fullUrl value="urn:uuid:8b2aa21c-1426-4717-8ab0-a84d83df7d47"/>
<resource>
<Observation>
<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">
<pre>HLA-C*03:04:01G</pre>
</div>
</text>
<status value="final"/>
<category>
<coding>
<system
value="http://terminology.hl7.org/CodeSystem/observation-category"/>
<code value="laboratory"/>
</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"/>
<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="http://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:2ae2ff34-279e-43c2-9018-b054fd3fc1ce"/>
<type value="MolecularSequence"/>
<display value="HLA-C*03:04:01:01, exon 2"/>
</derivedFrom>
<derivedFrom>
<reference value="urn:uuid:19153ef1-68c6-47a2-9676-c4eefbd39af9"/>
<type value="MolecularSequence"/>
<display value="HLA-C*03:04:01:01, exon 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/geneId"/>
<code value="HGNC:4933"/>
<display value="HLA-C"/>
</coding>
</valueCodeableConcept>
</component>
</Observation>
</resource>
<!-- transaction details -->
<request>
<method value="POST"/>
<url value="Observation"/>
</request>
</entry>
<!-- genotype Observation, HLA-C*01:02:01G+HLA-C*03:04:01G -->
<entry>
<fullUrl value="urn:uuid:0e0a780e-4486-4cd0-bfae-7243c579f208"/>
<!-- now under ObsRegionStudied -Chi
<component>
<code>
<coding>
<system value="http://loinc.org"/>
<code value="81293-3"/>
<display value="Description of ranges of DNA sequences examined"/>
</coding>
</code>
<valueCodeableConcept>
<text value="Exons 2 and 3"/>
</valueCodeableConcept>
</component>
-->
<resource>
<Observation>
<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">
<pre>HLA-C*01:02:01G+HLA-C*03:04:01G</pre>
</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>
<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"/>
<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="http://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 are Named Haplotype observations -->
<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/geneId"/>
<code value="HGNC:4933"/>
<display value="HLA-C"/>
</coding>
</valueCodeableConcept>
</component>
</Observation>
</resource>
<!-- transaction details -->
<request>
<method value="POST"/>
<url value="Observation"/>
</request>
</entry>
<!-- diagnostic report -->
<entry>
<fullUrl value="urn:uuid:b0a4b18e-94e7-4b1b-8031-c7ae4bdd8db9"/>
<resource>
<DiagnosticReport>
<meta>
<profile
value="http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/genomics-report"/>
</meta>
<text>
<status value="generated"/>
<div xmlns="http://www.w3.org/1999/xhtml">
<pre>
HLA-A,-B,-C genotyping report for John Storm (MRN:12345)
LOCUS ALLELE 1 ALLELE 2
HLA-A HLA-A:01:01G HLA-A*01:02
HLA-B HLA-B*15:01:01G HLA-B*57:01:01G
HLA-C HLA-C*01:02:01G HLA-C*03:04:01G
Allele assignments based on IMGT/HLA 3.23
Effective date: 2015-12-15
Method: Sequencing of exons 2 and 3 of HLA Class I genes
Lab: aTypingLab Inc
</pre>
</div>
</text>
<!-- The extensions below will be deprecated and refactored into a profile in the Genetic Reporting Implementation Guide -->
<extension
url="http://hl7.org/fhir/StructureDefinition/hla-genotyping-results-allele-database">
<valueCodeableConcept>
<coding>
<system value="http://www.ebi.ac.uk/ipd/imgt/hla"/>
<version value="3.23"/>
</coding>
</valueCodeableConcept>
</extension>
<extension
url="http://hl7.org/fhir/StructureDefinition/hla-genotyping-results-glstring">
<extension url="text">
<valueString
value="HLA-A*01:01:01G+HLA-A*01:02^HLA-B*15:01:01G+HLA-B*57:01:01G^HLA-C*01:02:01G+HLA-C*03:04:01G"/>
</extension>
<extension url="url">
<valueUri
value="https://gl.nmdp.org/imgt-hla/3.23.0/multilocus-unphased-genotype/ex"/>
</extension>
</extension>
<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/v2-0074"/>
<code value="GE"/>
<display value="Genetics"/>
</coding>
</category>
<code>
<coding>
<system value="http://loinc.org"/>
<code value="81247-9"/>
<display value="Master HL7 genetic variant reporting panel"/>
</coding>
<coding>
<system value="http://genenames.org/geneId"/>
<code value="HGNC:588"/>
<display value="Histocompatibility complex (HLA)"/>
</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"/>
<issued value="2016-12-15T14:15:30-06:00"/>
<performer>
<reference value="urn:uuid:9243cc20-27bd-4f87-ba90-0328ed474950"/>
<type value="Organization"/>
<display value="aTypingLab Inc"/>
</performer>
<specimen>
<reference value="urn:uuid:e44fbe33-6084-4ae2-a95e-8bc451c63340"/>
<display value="buccal swab from John Storm"/>
</specimen>
<!-- results are genotype observations for each gene -->
<result>
<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"/>
</result>
<result>
<reference value="urn:uuid:60613a43-c4cb-4502-b3e2-cf9215feaa70"/>
<type value="Observation"/>
<display value="HLA-B: HLA-B*15:01:01G+HLA-B*57:01:01G"/>
</result>
<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"/>
</result>
</DiagnosticReport>
</resource>
<!-- transaction details -->
<request>
<method value="POST"/>
<url value="DiagnosticReport"/>
</request>
</entry>
</Bundle>
IG © 2019+ HL7 International Clinical Genomics Work Group. Package hl7.fhir.uv.genomics-reporting#1.1.0 based on FHIR 4.0.1. Generated 2021-04-13
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