Genomics Reporting Implementation Guide
3.0.0-ballot - Ballot
Genomics Reporting Implementation Guide
3.0.0-ballot - Ballot
This page is part of the Genetic Reporting Implementation Guide (v3.0.0-ballot: STU 3 Ballot 1) based on FHIR (HL7® FHIR® Standard) R4. The current version which supersedes this version is 2.0.0. For a full list of available versions, see the Directory of published versions
{
"resourceType" : "Bundle",
"id" : "bundle-CG-IG-HLA-FullBundle-01",
"type" : "transaction",
"entry" : [
{
"fullUrl" : "urn:uuid:13f34265-335c-4853-bc38-0815315edafa",
"resource" : {
"resourceType" : "Patient",
"id" : "CG-IG-HLA-FullBundle-01-1",
"text" : {
"status" : "generated",
"div" : "<div xmlns=\"http://www.w3.org/1999/xhtml\"><p><b>Generated Narrative: Patient</b><a name=\"CG-IG-HLA-FullBundle-01-1\"> </a></p><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\">Resource Patient "CG-IG-HLA-FullBundle-01-1" </p></div><p><b>identifier</b>: Donor Registration Number:\u00a012345\u00a0(use:\u00a0USUAL,\u00a0period:\u00a02012-11-10 --> (ongoing))</p><p><b>name</b>: John Storm(OFFICIAL), Johnny Storm(NICKNAME), The Human Torch(NICKNAME)</p><p><b>gender</b>: male</p><p><b>birthDate</b>: 1986-12-31</p></div>"
},
"identifier" : [
{
"use" : "usual",
"type" : {
"coding" : [
{
"system" : "http://terminology.hl7.org/CodeSystem/v2-0203",
"code" : "DR"
}
]
},
"system" : "urn:oid:0.0.0.0.0.0.0",
"value" : "12345",
"period" : {
"start" : "2012-11-10"
},
"assigner" : {
"display" : "aDonorRegistry"
}
}
],
"name" : [
{
"use" : "official",
"text" : "John Storm",
"family" : "Storm",
"given" : [
"John"
]
},
{
"use" : "nickname",
"text" : "Johnny Storm",
"family" : "Storm",
"given" : [
"Johnny"
]
},
{
"use" : "nickname",
"text" : "The Human Torch"
}
],
"gender" : "male",
"birthDate" : "1986-12-31"
},
"request" : {
"method" : "POST",
"url" : "Patient"
}
},
{
"fullUrl" : "urn:uuid:e44fbe33-6084-4ae2-a95e-8bc451c63340",
"resource" : {
"resourceType" : "Specimen",
"id" : "CG-IG-HLA-FullBundle-01-2",
"text" : {
"status" : "generated",
"div" : "<div xmlns=\"http://www.w3.org/1999/xhtml\"><p><b>Generated Narrative: Specimen</b><a name=\"CG-IG-HLA-FullBundle-01-2\"> </a></p><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\">Resource Specimen "CG-IG-HLA-FullBundle-01-2" </p></div><p><b>identifier</b>: id:\u00a0123</p><p><b>accessionIdentifier</b>: id:\u00a0456</p><p><b>type</b>: Venous blood specimen <span style=\"background: LightGoldenRodYellow; margin: 4px; border: 1px solid khaki\"> (<a href=\"https://browser.ihtsdotools.org/\">SNOMED CT</a>#122555007)</span></p><p><b>subject</b>: <a href=\"#Patient_CG-IG-HLA-FullBundle-01-1\">See above (urn:uuid:13f34265-335c-4853-bc38-0815315edafa: John Storm)</a></p></div>"
},
"identifier" : [
{
"system" : "http://myorgsurl.com",
"value" : "123"
}
],
"accessionIdentifier" : {
"system" : "http://mylabsurl.com",
"value" : "456"
},
"type" : {
"coding" : [
{
"system" : "http://snomed.info/sct",
"code" : "122555007",
"display" : "Venous blood specimen"
}
]
},
"subject" : {
"reference" : "urn:uuid:13f34265-335c-4853-bc38-0815315edafa",
"type" : "Patient",
"display" : "John Storm"
}
},
"request" : {
"method" : "POST",
"url" : "Specimen"
}
},
{
"fullUrl" : "urn:uuid:9243cc20-27bd-4f87-ba90-0328ed474950",
"resource" : {
"resourceType" : "Organization",
"id" : "CG-IG-HLA-FullBundle-01-3",
"text" : {
"status" : "generated",
"div" : "<div xmlns=\"http://www.w3.org/1999/xhtml\"><p><b>Generated Narrative: Organization</b><a name=\"CG-IG-HLA-FullBundle-01-3\"> </a></p><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\">Resource Organization "CG-IG-HLA-FullBundle-01-3" </p></div><p><b>name</b>: aTypingLab Inc</p><p><b>alias</b>: aTL</p><p><b>telecom</b>: ph: 1-800-555-1234(WORK)</p><p><b>address</b>: 123 Main St, Sometown, ND 99999(WORK)</p></div>"
},
"name" : "aTypingLab Inc",
"alias" : [
"aTL"
],
"telecom" : [
{
"system" : "phone",
"value" : "1-800-555-1234",
"use" : "work",
"rank" : 1
}
],
"address" : [
{
"use" : "work",
"type" : "both",
"text" : "123 Main St, Sometown, ND 99999",
"line" : [
"123 Main St"
],
"city" : "Sometown",
"state" : "ND",
"postalCode" : "99999",
"country" : "USA"
}
]
},
"request" : {
"method" : "POST",
"url" : "Organization"
}
},
{
"fullUrl" : "urn:uuid:00ef18ad-ed04-4b2c-81ee-b69bb243f0d5",
"resource" : {
"resourceType" : "Organization",
"id" : "CG-IG-HLA-FullBundle-01-4",
"text" : {
"status" : "generated",
"div" : "<div xmlns=\"http://www.w3.org/1999/xhtml\"><p><b>Generated Narrative: Organization</b><a name=\"CG-IG-HLA-FullBundle-01-4\"> </a></p><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\">Resource Organization "CG-IG-HLA-FullBundle-01-4" </p></div><p><b>name</b>: aDonorRegistry</p><p><b>alias</b>: ADR</p><p><b>telecom</b>: ph: 1-800-555-6789(WORK)</p><p><b>address</b>: 456 Main St, Anytown ND, 00000(WORK)</p></div>"
},
"name" : "aDonorRegistry",
"alias" : [
"ADR"
],
"telecom" : [
{
"system" : "phone",
"value" : "1-800-555-6789",
"use" : "work",
"rank" : 1
}
],
"address" : [
{
"use" : "work",
"type" : "both",
"text" : "456 Main St, Anytown ND, 00000",
"line" : [
"456 Main St"
],
"city" : "Anytown",
"state" : "ND",
"postalCode" : "00000",
"country" : "USA"
}
]
},
"request" : {
"method" : "POST",
"url" : "Organization"
}
},
{
"fullUrl" : "urn:uuid:99309303-045e-4cf4-90d7-250d7a7476ea",
"resource" : {
"resourceType" : "ServiceRequest",
"id" : "CG-IG-HLA-FullBundle-01-5",
"text" : {
"status" : "generated",
"div" : "<div xmlns=\"http://www.w3.org/1999/xhtml\"><p><b>Generated Narrative: ServiceRequest</b><a name=\"CG-IG-HLA-FullBundle-01-5\"> </a></p><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\">Resource ServiceRequest "CG-IG-HLA-FullBundle-01-5" </p></div><p><b>status</b>: completed</p><p><b>intent</b>: order</p><p><b>code</b>: HLA-A+B+C (class I) [Type] <span style=\"background: LightGoldenRodYellow; margin: 4px; border: 1px solid khaki\"> (<a href=\"https://loinc.org/\">LOINC</a>#13303-3)</span></p><p><b>subject</b>: <a href=\"#Patient_CG-IG-HLA-FullBundle-01-1\">See above (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=\"#Organization_CG-IG-HLA-FullBundle-01-4\">See above (urn:uuid:00ef18ad-ed04-4b2c-81ee-b69bb243f0d5: aDonorRegistry)</a></p><p><b>performer</b>: <a href=\"#Organization_CG-IG-HLA-FullBundle-01-3\">See above (urn:uuid:9243cc20-27bd-4f87-ba90-0328ed474950: aTypingLab, Inc)</a></p><p><b>reasonCode</b>: tissue typing for donor registry <span style=\"background: LightGoldenRodYellow; margin: 4px; border: 1px solid khaki\"> ()</span></p></div>"
},
"status" : "completed",
"intent" : "order",
"code" : {
"coding" : [
{
"system" : "http://loinc.org",
"code" : "13303-3",
"display" : "HLA-A+B+C (class I) [Type]"
}
]
},
"subject" : {
"reference" : "urn:uuid:13f34265-335c-4853-bc38-0815315edafa",
"type" : "Patient",
"display" : "John Storm"
},
"authoredOn" : "2016-11-15",
"requester" : {
"reference" : "urn:uuid:00ef18ad-ed04-4b2c-81ee-b69bb243f0d5",
"type" : "Organization",
"display" : "aDonorRegistry"
},
"performer" : [
{
"reference" : "urn:uuid:9243cc20-27bd-4f87-ba90-0328ed474950",
"type" : "Organization",
"display" : "aTypingLab, Inc"
}
],
"reasonCode" : [
{
"text" : "tissue typing for donor registry"
}
]
},
"request" : {
"method" : "POST",
"url" : "ServiceRequest"
}
},
{
"fullUrl" : "urn:uuid:8200dab6-18a2-4550-b913-a7db480c0804",
"resource" : {
"resourceType" : "MolecularSequence",
"id" : "CG-IG-HLA-FullBundle-01-6",
"text" : {
"status" : "generated",
"div" : "<div xmlns=\"http://www.w3.org/1999/xhtml\"><p><b>Generated Narrative: MolecularSequence</b><a name=\"CG-IG-HLA-FullBundle-01-6\"> </a></p><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\">Resource MolecularSequence "CG-IG-HLA-FullBundle-01-6" </p></div><p><b>type</b>: dna</p><p><b>coordinateSystem</b>: 0</p><h3>ReferenceSeqs</h3><table class=\"grid\"><tr><td style=\"display: none\">-</td><td><b>ReferenceSeqId</b></td><td><b>WindowStart</b></td><td><b>WindowEnd</b></td></tr><tr><td style=\"display: none\">*</td><td>HLA-A*01:01:01:01 <span style=\"background: LightGoldenRodYellow; margin: 4px; border: 1px solid khaki\"> (hla[3.23]#HLA00001)</span></td><td>503</td><td>773</td></tr></table><p><b>observedSeq</b>: GCTCCCACTCCATGAGGTATTTCTTCACATCCGTGTCCCGGCCCGGCCGCGGGGAGCCCCGCTTCATCGCCGTGGGCTACGTGGACGACACGCAGTTCGTGCGGTTCGACAGCGACGCCGCGAGCCAGAAGATGGAGCCGCGGGCGCCGTGGATAGAGCAGGAGGGGCCGGAGTATTGGGACCAGGAGACACGGAATATGAAGGCCCACTCACAGACTGACCGAGCGAACCTGGGGACCCTGCGCGGCTACTACAACCAGAGCGAGGACG</p></div>"
},
"type" : "dna",
"coordinateSystem" : 0,
"referenceSeq" : {
"referenceSeqId" : {
"coding" : [
{
"system" : "http://www.ebi.ac.uk/ipd/imgt/hla",
"version" : "3.23",
"code" : "HLA00001"
}
],
"text" : "HLA-A*01:01:01:01"
},
"windowStart" : 503,
"windowEnd" : 773
},
"observedSeq" : "GCTCCCACTCCATGAGGTATTTCTTCACATCCGTGTCCCGGCCCGGCCGCGGGGAGCCCCGCTTCATCGCCGTGGGCTACGTGGACGACACGCAGTTCGTGCGGTTCGACAGCGACGCCGCGAGCCAGAAGATGGAGCCGCGGGCGCCGTGGATAGAGCAGGAGGGGCCGGAGTATTGGGACCAGGAGACACGGAATATGAAGGCCCACTCACAGACTGACCGAGCGAACCTGGGGACCCTGCGCGGCTACTACAACCAGAGCGAGGACG"
},
"request" : {
"method" : "POST",
"url" : "MolecularSequence"
}
},
{
"fullUrl" : "urn:uuid:7c393185-f15c-45bc-a714-c0fdbea32675",
"resource" : {
"resourceType" : "MolecularSequence",
"id" : "CG-IG-HLA-FullBundle-01-7",
"text" : {
"status" : "generated",
"div" : "<div xmlns=\"http://www.w3.org/1999/xhtml\"><p><b>Generated Narrative: MolecularSequence</b><a name=\"CG-IG-HLA-FullBundle-01-7\"> </a></p><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\">Resource MolecularSequence "CG-IG-HLA-FullBundle-01-7" </p></div><p><b>type</b>: dna</p><p><b>coordinateSystem</b>: 0</p><h3>ReferenceSeqs</h3><table class=\"grid\"><tr><td style=\"display: none\">-</td><td><b>ReferenceSeqId</b></td><td><b>WindowStart</b></td><td><b>WindowEnd</b></td></tr><tr><td style=\"display: none\">*</td><td>HLA-A*01:01:01:01 <span style=\"background: LightGoldenRodYellow; margin: 4px; border: 1px solid khaki\"> (hla[3.23]#HLA00001)</span></td><td>1014</td><td>1290</td></tr></table><p><b>observedSeq</b>: GTTCTCACACCATCCAGATAATGTATGGCTGCGACGTGGGGCCGGACGGGCGCTTCCTCCGCGGGTACCGGCAGGACGCCTACGACGGCAAGGATTACATCGCCCTGAACGAGGACCTGCGCTCTTGGACCGCGGCGGACATGGCAGCTCAGATCACCAAGCGCAAGTGGGAGGCGGTCCATGCGGCGGAGCAGCGGAGAGTCTACCTGGAGGGCCGGTGCGTGGACGGGCTCCGCAGATACCTGGAGAACGGGAAGGAGACGCTGCAGCGCACGG</p></div>"
},
"type" : "dna",
"coordinateSystem" : 0,
"referenceSeq" : {
"referenceSeqId" : {
"coding" : [
{
"system" : "http://www.ebi.ac.uk/ipd/imgt/hla",
"version" : "3.23",
"code" : "HLA00001"
}
],
"text" : "HLA-A*01:01:01:01"
},
"windowStart" : 1014,
"windowEnd" : 1290
},
"observedSeq" : "GTTCTCACACCATCCAGATAATGTATGGCTGCGACGTGGGGCCGGACGGGCGCTTCCTCCGCGGGTACCGGCAGGACGCCTACGACGGCAAGGATTACATCGCCCTGAACGAGGACCTGCGCTCTTGGACCGCGGCGGACATGGCAGCTCAGATCACCAAGCGCAAGTGGGAGGCGGTCCATGCGGCGGAGCAGCGGAGAGTCTACCTGGAGGGCCGGTGCGTGGACGGGCTCCGCAGATACCTGGAGAACGGGAAGGAGACGCTGCAGCGCACGG"
},
"request" : {
"method" : "POST",
"url" : "MolecularSequence"
}
},
{
"fullUrl" : "urn:uuid:65c85f14-c3a0-4b72-818f-820e04fcc621",
"resource" : {
"resourceType" : "MolecularSequence",
"id" : "CG-IG-HLA-FullBundle-01-8",
"text" : {
"status" : "generated",
"div" : "<div xmlns=\"http://www.w3.org/1999/xhtml\"><p><b>Generated Narrative: MolecularSequence</b><a name=\"CG-IG-HLA-FullBundle-01-8\"> </a></p><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\">Resource MolecularSequence "CG-IG-HLA-FullBundle-01-8" </p></div><p><b>type</b>: dna</p><p><b>coordinateSystem</b>: 0</p><h3>ReferenceSeqs</h3><table class=\"grid\"><tr><td style=\"display: none\">-</td><td><b>ReferenceSeqId</b></td><td><b>WindowStart</b></td><td><b>WindowEnd</b></td></tr><tr><td style=\"display: none\">*</td><td>HLA-A*01:02 <span style=\"background: LightGoldenRodYellow; margin: 4px; border: 1px solid khaki\"> (hla[3.23]#HLA00002)</span></td><td>503</td><td>773</td></tr></table><p><b>observedSeq</b>: GCTCCCACTCCATGAGGTATTTCTCCACATCCGTGTCCCGGCCCGGCAGTGGAGAGCCCCGCTTCATCGCAGTGGGCTACGTGGACGACACGCAGTTCGTGCGGTTCGACAGCGACGCCGCGAGCCAGAAGATGGAGCCGCGGGCGCCGTGGATAGAGCAGGAGGGGCCGGAGTATTGGGACCAGGAGACACGGAATATGAAGGCCCACTCACAGACTGACCGAGCGAACCTGGGGACCCTGCGCGGCTACTACAACCAGAGCGAGGACG</p></div>"
},
"type" : "dna",
"coordinateSystem" : 0,
"referenceSeq" : {
"referenceSeqId" : {
"coding" : [
{
"system" : "http://www.ebi.ac.uk/ipd/imgt/hla",
"version" : "3.23",
"code" : "HLA00002"
}
],
"text" : "HLA-A*01:02"
},
"windowStart" : 503,
"windowEnd" : 773
},
"observedSeq" : "GCTCCCACTCCATGAGGTATTTCTCCACATCCGTGTCCCGGCCCGGCAGTGGAGAGCCCCGCTTCATCGCAGTGGGCTACGTGGACGACACGCAGTTCGTGCGGTTCGACAGCGACGCCGCGAGCCAGAAGATGGAGCCGCGGGCGCCGTGGATAGAGCAGGAGGGGCCGGAGTATTGGGACCAGGAGACACGGAATATGAAGGCCCACTCACAGACTGACCGAGCGAACCTGGGGACCCTGCGCGGCTACTACAACCAGAGCGAGGACG"
},
"request" : {
"method" : "POST",
"url" : "MolecularSequence"
}
},
{
"fullUrl" : "urn:uuid:fbba9fe7-0ece-4ec1-9233-a437a8d242a0",
"resource" : {
"resourceType" : "MolecularSequence",
"id" : "CG-IG-HLA-FullBundle-01-9",
"text" : {
"status" : "generated",
"div" : "<div xmlns=\"http://www.w3.org/1999/xhtml\"><p><b>Generated Narrative: MolecularSequence</b><a name=\"CG-IG-HLA-FullBundle-01-9\"> </a></p><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\">Resource MolecularSequence "CG-IG-HLA-FullBundle-01-9" </p></div><p><b>type</b>: dna</p><p><b>coordinateSystem</b>: 0</p><h3>ReferenceSeqs</h3><table class=\"grid\"><tr><td style=\"display: none\">-</td><td><b>ReferenceSeqId</b></td><td><b>WindowStart</b></td><td><b>WindowEnd</b></td></tr><tr><td style=\"display: none\">*</td><td>HLA-A*01:02 <span style=\"background: LightGoldenRodYellow; margin: 4px; border: 1px solid khaki\"> (hla[3.23]#HLA00002)</span></td><td>1014</td><td>1290</td></tr></table><p><b>observedSeq</b>: GTTCTCACACCATCCAGATAATGTATGGCTGCGACGTGGGGCCGGACGGGCGCTTCCTCCGCGGGTACCGGCAGGACGCCTACGACGGCAAGGATTACATCGCCCTGAACGAGGACCTGCGCTCTTGGACCGCGGCGGACATGGCAGCTCAGATCACCAAGCGCAAGTGGGAGGCGGTCCATGCGGCGGAGCAGCGGAGAGTCTACCTGGAGGGCCGGTGCGTGGACGGGCTCCGCAGATACCTGGAGAACGGGAAGGAGACGCTGCAGCGCACGG</p></div>"
},
"type" : "dna",
"coordinateSystem" : 0,
"referenceSeq" : {
"referenceSeqId" : {
"coding" : [
{
"system" : "http://www.ebi.ac.uk/ipd/imgt/hla",
"version" : "3.23",
"code" : "HLA00002"
}
],
"text" : "HLA-A*01:02"
},
"windowStart" : 1014,
"windowEnd" : 1290
},
"observedSeq" : "GTTCTCACACCATCCAGATAATGTATGGCTGCGACGTGGGGCCGGACGGGCGCTTCCTCCGCGGGTACCGGCAGGACGCCTACGACGGCAAGGATTACATCGCCCTGAACGAGGACCTGCGCTCTTGGACCGCGGCGGACATGGCAGCTCAGATCACCAAGCGCAAGTGGGAGGCGGTCCATGCGGCGGAGCAGCGGAGAGTCTACCTGGAGGGCCGGTGCGTGGACGGGCTCCGCAGATACCTGGAGAACGGGAAGGAGACGCTGCAGCGCACGG"
},
"request" : {
"method" : "POST",
"url" : "MolecularSequence"
}
},
{
"fullUrl" : "urn:uuid:b7765bbf-df40-486a-9f2f-404309643de6",
"resource" : {
"resourceType" : "Observation",
"id" : "CG-IG-HLA-FullBundle-01-10",
"meta" : {
"profile" : [
🔗 "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/haplotype"
]
},
"text" : {
"status" : "generated",
"div" : "<div xmlns=\"http://www.w3.org/1999/xhtml\"><p><b>Generated Narrative: Observation</b><a name=\"CG-IG-HLA-FullBundle-01-10\"> </a></p><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\">Resource Observation "CG-IG-HLA-FullBundle-01-10" </p><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>: Laboratory <span style=\"background: LightGoldenRodYellow; margin: 4px; border: 1px solid khaki\"> (<a href=\"http://terminology.hl7.org/5.3.0/CodeSystem-observation-category.html\">Observation Category Codes</a>#laboratory)</span>, Genetics <span style=\"background: LightGoldenRodYellow; margin: 4px; border: 1px solid khaki\"> (<a href=\"http://terminology.hl7.org/5.3.0/CodeSystem-v2-0074.html\">diagnosticServiceSectionId</a>#GE)</span></p><p><b>code</b>: Haplotype name <span style=\"background: LightGoldenRodYellow; margin: 4px; border: 1px solid khaki\"> (<a href=\"https://loinc.org/\">LOINC</a>#84414-2)</span></p><p><b>subject</b>: <a href=\"#Patient_CG-IG-HLA-FullBundle-01-1\">See above (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=\"#Organization_CG-IG-HLA-FullBundle-01-3\">See above (urn:uuid:9243cc20-27bd-4f87-ba90-0328ed474950: aTypingLab, Inc)</a></p><p><b>value</b>: HLA-A*01:01:01G <span style=\"background: LightGoldenRodYellow; margin: 4px; border: 1px solid khaki\"> (hla[3.23]#HLA-A*01:01:01G)</span></p><p><b>method</b>: NGS based Class I HLA-A, -B, -C genotyping <span style=\"background: LightGoldenRodYellow; margin: 4px; border: 1px solid khaki\"> (gtr#GTR000000000.0)</span></p><p><b>specimen</b>: <a href=\"#Specimen_CG-IG-HLA-FullBundle-01-2\">See above (urn:uuid:e44fbe33-6084-4ae2-a95e-8bc451c63340: buccal swab from John Storm)</a></p><p><b>derivedFrom</b>: </p><ul><li><a href=\"#MolecularSequence_CG-IG-HLA-FullBundle-01-6\">See above (urn:uuid:8200dab6-18a2-4550-b913-a7db480c0804: HLA-A*01:01:01:01, exon 2)</a></li><li><a href=\"#MolecularSequence_CG-IG-HLA-FullBundle-01-7\">See above (urn:uuid:7c393185-f15c-45bc-a714-c0fdbea32675: HLA-A*01:01:01:01, exon 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>Gene studied [ID] <span style=\"background: LightGoldenRodYellow; margin: 4px; border: 1px solid khaki\"> (<a href=\"https://loinc.org/\">LOINC</a>#48018-6)</span></td><td>HLA-A <span style=\"background: LightGoldenRodYellow; margin: 4px; border: 1px solid khaki\"> (<a href=\"http://terminology.hl7.org/5.3.0/CodeSystem-v3-hgnc.html\">HUGO Gene Nomenclature Committee Genes</a>#HGNC:4931)</span></td></tr></table></div>"
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{
"coding" : [
{
"system" : "http://terminology.hl7.org/CodeSystem/v2-0074",
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"code" : {
"coding" : [
{
"system" : "http://loinc.org",
"code" : "84414-2",
"display" : "Haplotype name"
}
]
},
"subject" : {
"reference" : "urn:uuid:13f34265-335c-4853-bc38-0815315edafa",
"type" : "Patient",
"display" : "John Storm"
},
"effectiveDateTime" : "2016-12-15",
"performer" : [
{
"reference" : "urn:uuid:9243cc20-27bd-4f87-ba90-0328ed474950",
"display" : "aTypingLab, Inc"
}
],
"valueCodeableConcept" : {
"coding" : [
{
"system" : "http://www.ebi.ac.uk/ipd/imgt/hla",
"version" : "3.23",
"code" : "HLA-A*01:01:01G",
"display" : "HLA-A*01:01:01G"
}
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},
"method" : {
"coding" : [
{
"system" : "http://www.ncbi.nlm.nih.gov/gtr",
"code" : "GTR000000000.0"
}
],
"text" : "NGS based Class I HLA-A, -B, -C genotyping"
},
"specimen" : {
"reference" : "urn:uuid:e44fbe33-6084-4ae2-a95e-8bc451c63340",
"display" : "buccal swab from John Storm"
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"derivedFrom" : [
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"reference" : "urn:uuid:8200dab6-18a2-4550-b913-a7db480c0804",
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{
"reference" : "urn:uuid:7c393185-f15c-45bc-a714-c0fdbea32675",
"type" : "MolecularSequence",
"display" : "HLA-A*01:01:01:01, exon 3"
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],
"component" : [
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"code" : "48018-6",
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"valueCodeableConcept" : {
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{
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"resource" : {
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"meta" : {
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🔗 "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/haplotype"
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"status" : "generated",
"div" : "<div xmlns=\"http://www.w3.org/1999/xhtml\"><p><b>Generated Narrative: Observation</b><a name=\"CG-IG-HLA-FullBundle-01-11\"> </a></p><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\">Resource Observation "CG-IG-HLA-FullBundle-01-11" </p><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>: Laboratory <span style=\"background: LightGoldenRodYellow; margin: 4px; border: 1px solid khaki\"> (<a href=\"http://terminology.hl7.org/5.3.0/CodeSystem-observation-category.html\">Observation Category Codes</a>#laboratory)</span>, Genetics <span style=\"background: LightGoldenRodYellow; margin: 4px; border: 1px solid khaki\"> (<a href=\"http://terminology.hl7.org/5.3.0/CodeSystem-v2-0074.html\">diagnosticServiceSectionId</a>#GE)</span></p><p><b>code</b>: Haplotype name <span style=\"background: LightGoldenRodYellow; margin: 4px; border: 1px solid khaki\"> (<a href=\"https://loinc.org/\">LOINC</a>#84414-2)</span></p><p><b>subject</b>: <a href=\"#Patient_CG-IG-HLA-FullBundle-01-1\">See above (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=\"#Organization_CG-IG-HLA-FullBundle-01-3\">See above (urn:uuid:9243cc20-27bd-4f87-ba90-0328ed474950: aTypingLab, Inc)</a></p><p><b>value</b>: HLA-A*01:02 <span style=\"background: LightGoldenRodYellow; margin: 4px; border: 1px solid khaki\"> (hla[3.23]#HLA-A*01:02)</span></p><p><b>method</b>: NGS based Class I HLA-A, -B, -C genotyping <span style=\"background: LightGoldenRodYellow; margin: 4px; border: 1px solid khaki\"> (gtr#GTR000000000.0)</span></p><p><b>specimen</b>: <a href=\"#Specimen_CG-IG-HLA-FullBundle-01-2\">See above (urn:uuid:e44fbe33-6084-4ae2-a95e-8bc451c63340: buccal swab from John Storm)</a></p><p><b>derivedFrom</b>: </p><ul><li><a href=\"#MolecularSequence_CG-IG-HLA-FullBundle-01-8\">See above (urn:uuid:65c85f14-c3a0-4b72-818f-820e04fcc621: HLA-A*01:02, exon 2)</a></li><li><a href=\"#MolecularSequence_CG-IG-HLA-FullBundle-01-9\">See above (urn:uuid:fbba9fe7-0ece-4ec1-9233-a437a8d242a0: HLA-A*01:02, exon 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>Gene studied [ID] <span style=\"background: LightGoldenRodYellow; margin: 4px; border: 1px solid khaki\"> (<a href=\"https://loinc.org/\">LOINC</a>#48018-6)</span></td><td>HLA-A <span style=\"background: LightGoldenRodYellow; margin: 4px; border: 1px solid khaki\"> (<a href=\"http://terminology.hl7.org/5.3.0/CodeSystem-v3-hgnc.html\">HUGO Gene Nomenclature Committee Genes</a>#HGNC:4931)</span></td></tr></table></div>"
},
"status" : "final",
"category" : [
{
"coding" : [
{
"system" : "http://terminology.hl7.org/CodeSystem/observation-category",
"code" : "laboratory"
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]
},
{
"coding" : [
{
"system" : "http://terminology.hl7.org/CodeSystem/v2-0074",
"code" : "GE"
}
]
}
],
"code" : {
"coding" : [
{
"system" : "http://loinc.org",
"code" : "84414-2",
"display" : "Haplotype name"
}
]
},
"subject" : {
"reference" : "urn:uuid:13f34265-335c-4853-bc38-0815315edafa",
"type" : "Patient",
"display" : "John Storm"
},
"effectiveDateTime" : "2016-12-15",
"performer" : [
{
"reference" : "urn:uuid:9243cc20-27bd-4f87-ba90-0328ed474950",
"display" : "aTypingLab, Inc"
}
],
"valueCodeableConcept" : {
"coding" : [
{
"system" : "http://www.ebi.ac.uk/ipd/imgt/hla",
"version" : "3.23",
"code" : "HLA-A*01:02",
"display" : "HLA-A*01:02"
}
]
},
"method" : {
"coding" : [
{
"system" : "http://www.ncbi.nlm.nih.gov/gtr",
"code" : "GTR000000000.0"
}
],
"text" : "NGS based Class I HLA-A, -B, -C genotyping"
},
"specimen" : {
"reference" : "urn:uuid:e44fbe33-6084-4ae2-a95e-8bc451c63340",
"display" : "buccal swab from John Storm"
},
"derivedFrom" : [
{
"reference" : "urn:uuid:65c85f14-c3a0-4b72-818f-820e04fcc621",
"type" : "MolecularSequence",
"display" : "HLA-A*01:02, exon 2"
},
{
"reference" : "urn:uuid:fbba9fe7-0ece-4ec1-9233-a437a8d242a0",
"type" : "MolecularSequence",
"display" : "HLA-A*01:02, exon 3"
}
],
"component" : [
{
"code" : {
"coding" : [
{
"system" : "http://loinc.org",
"code" : "48018-6",
"display" : "Gene studied [ID]"
}
]
},
"valueCodeableConcept" : {
"coding" : [
{
"system" : "http://www.genenames.org",
"code" : "HGNC:4931",
"display" : "HLA-A"
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]
}
}
]
},
"request" : {
"method" : "POST",
"url" : "Observation"
}
},
{
"fullUrl" : "urn:uuid:49a86246-4004-42eb-9bdc-f542f93f9228",
"resource" : {
"resourceType" : "Observation",
"id" : "CG-IG-HLA-FullBundle-01-12",
"meta" : {
"profile" : [
🔗 "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/genotype"
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},
"text" : {
"status" : "generated",
"div" : "<div xmlns=\"http://www.w3.org/1999/xhtml\"><p><b>Generated Narrative: Observation</b><a name=\"CG-IG-HLA-FullBundle-01-12\"> </a></p><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\">Resource Observation "CG-IG-HLA-FullBundle-01-12" </p><p style=\"margin-bottom: 0px\">Profile: <a href=\"StructureDefinition-genotype.html\">Genotype</a></p></div><p><b>basedOn</b>: <a href=\"#ServiceRequest_CG-IG-HLA-FullBundle-01-5\">See above (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>: Laboratory <span style=\"background: LightGoldenRodYellow; margin: 4px; border: 1px solid khaki\"> (<a href=\"http://terminology.hl7.org/5.3.0/CodeSystem-observation-category.html\">Observation Category Codes</a>#laboratory)</span>, Genetics <span style=\"background: LightGoldenRodYellow; margin: 4px; border: 1px solid khaki\"> (<a href=\"http://terminology.hl7.org/5.3.0/CodeSystem-v2-0074.html\">diagnosticServiceSectionId</a>#GE)</span></p><p><b>code</b>: Genotype display name <span style=\"background: LightGoldenRodYellow; margin: 4px; border: 1px solid khaki\"> (<a href=\"https://loinc.org/\">LOINC</a>#84413-4)</span></p><p><b>subject</b>: <a href=\"#Patient_CG-IG-HLA-FullBundle-01-1\">See above (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=\"#Organization_CG-IG-HLA-FullBundle-01-3\">See above (urn:uuid:9243cc20-27bd-4f87-ba90-0328ed474950: aTypingLab, Inc)</a></p><p><b>value</b>: hla#3.23.0#HLA-A:01:01G+HLA-A*01:02 <span style=\"background: LightGoldenRodYellow; margin: 4px; border: 1px solid khaki\"> (glstring.org[1.0]#hla#3.23.0#HLA-A:01:01G+HLA-A*01:02)</span></p><p><b>method</b>: NGS based Class I HLA-A, -B, -C genotyping <span style=\"background: LightGoldenRodYellow; margin: 4px; border: 1px solid khaki\"> (gtr#GTR000000000.0)</span></p><p><b>specimen</b>: <a href=\"#Specimen_CG-IG-HLA-FullBundle-01-2\">See above (urn:uuid:e44fbe33-6084-4ae2-a95e-8bc451c63340: buccal swab from John Storm)</a></p><p><b>derivedFrom</b>: </p><ul><li><a href=\"#Observation_CG-IG-HLA-FullBundle-01-10\">See above (urn:uuid:b7765bbf-df40-486a-9f2f-404309643de6: HLA-A*01:01:01G, exons 2 and 3)</a></li><li><a href=\"#Observation_CG-IG-HLA-FullBundle-01-11\">See above (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>Gene studied [ID] <span style=\"background: LightGoldenRodYellow; margin: 4px; border: 1px solid khaki\"> (<a href=\"https://loinc.org/\">LOINC</a>#48018-6)</span></td><td>HLA-A <span style=\"background: LightGoldenRodYellow; margin: 4px; border: 1px solid khaki\"> (<a href=\"http://terminology.hl7.org/5.3.0/CodeSystem-v3-hgnc.html\">HUGO Gene Nomenclature Committee Genes</a>#HGNC:4931)</span></td></tr></table></div>"
},
"basedOn" : [
{
"reference" : "urn:uuid:99309303-045e-4cf4-90d7-250d7a7476ea",
"type" : "ServiceRequest",
"display" : "Class I HLA genotyping for John Storm"
}
],
"status" : "final",
"category" : [
{
"coding" : [
{
"system" : "http://terminology.hl7.org/CodeSystem/observation-category",
"code" : "laboratory"
}
]
},
{
"coding" : [
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"system" : "http://terminology.hl7.org/CodeSystem/v2-0074",
"code" : "GE"
}
]
}
],
"code" : {
"coding" : [
{
"system" : "http://loinc.org",
"code" : "84413-4",
"display" : "Genotype display name"
}
]
},
"subject" : {
"reference" : "urn:uuid:13f34265-335c-4853-bc38-0815315edafa",
"type" : "Patient",
"display" : "John Storm"
},
"effectiveDateTime" : "2016-12-15",
"performer" : [
{
"reference" : "urn:uuid:9243cc20-27bd-4f87-ba90-0328ed474950",
"display" : "aTypingLab, Inc"
}
],
"valueCodeableConcept" : {
"coding" : [
{
"system" : "http://glstring.org",
"version" : "1.0",
"code" : "hla#3.23.0#HLA-A:01:01G+HLA-A*01:02"
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]
},
"method" : {
"coding" : [
{
"system" : "http://www.ncbi.nlm.nih.gov/gtr",
"code" : "GTR000000000.0"
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],
"text" : "NGS based Class I HLA-A, -B, -C genotyping"
},
"specimen" : {
"reference" : "urn:uuid:e44fbe33-6084-4ae2-a95e-8bc451c63340",
"display" : "buccal swab from John Storm"
},
"derivedFrom" : [
{
"reference" : "urn:uuid:b7765bbf-df40-486a-9f2f-404309643de6",
"type" : "Observation",
"display" : "HLA-A*01:01:01G, exons 2 and 3"
},
{
"reference" : "urn:uuid:d98d92a7-0e86-4ae5-b036-b7e1bba6ec32",
"type" : "Observation",
"display" : "HLA-A*01:02, exons 2 and 3"
}
],
"component" : [
{
"code" : {
"coding" : [
{
"system" : "http://loinc.org",
"code" : "48018-6",
"display" : "Gene studied [ID]"
}
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},
"valueCodeableConcept" : {
"coding" : [
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},
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"url" : "Observation"
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},
{
"fullUrl" : "urn:uuid:cbabf93e-1b4b-46f2-ba1e-d84862670670",
"resource" : {
"resourceType" : "MolecularSequence",
"id" : "CG-IG-HLA-FullBundle-01-13",
"text" : {
"status" : "generated",
"div" : "<div xmlns=\"http://www.w3.org/1999/xhtml\"><p><b>Generated Narrative: MolecularSequence</b><a name=\"CG-IG-HLA-FullBundle-01-13\"> </a></p><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\">Resource MolecularSequence "CG-IG-HLA-FullBundle-01-13" </p></div><p><b>type</b>: dna</p><p><b>coordinateSystem</b>: 0</p><h3>ReferenceSeqs</h3><table class=\"grid\"><tr><td style=\"display: none\">-</td><td><b>ReferenceSeqId</b></td><td><b>WindowStart</b></td><td><b>WindowEnd</b></td></tr><tr><td style=\"display: none\">*</td><td>HLA-B*15:01:01:01 <span style=\"background: LightGoldenRodYellow; margin: 4px; border: 1px solid khaki\"> (hla[3.23]#HLA00162)</span></td><td>486</td><td>756</td></tr></table><p><b>observedSeq</b>: GCTCCCACTCCATGAGGTATTTCTACACCGCCATGTCCCGGCCCGGCCGCGGGGAGCCCCGCTTCATCGCAGTGGGCTACGTGGACGACACCCAGTTCGTGAGGTTCGACAGCGACGCCGCGAGTCCGAGGATGGCGCCCCGGGCGCCATGGATAGAGCAGGAGGGGCCGGAGTATTGGGACCGGGAGACACAGATCTCCAAGACCAACACACAGACTTACCGAGAGAGCCTGCGGAACCTGCGCGGCTACTACAACCAGAGCGAGGCCG</p></div>"
},
"type" : "dna",
"coordinateSystem" : 0,
"referenceSeq" : {
"referenceSeqId" : {
"coding" : [
{
"system" : "http://www.ebi.ac.uk/ipd/imgt/hla",
"version" : "3.23",
"code" : "HLA00162"
}
],
"text" : "HLA-B*15:01:01:01"
},
"windowStart" : 486,
"windowEnd" : 756
},
"observedSeq" : "GCTCCCACTCCATGAGGTATTTCTACACCGCCATGTCCCGGCCCGGCCGCGGGGAGCCCCGCTTCATCGCAGTGGGCTACGTGGACGACACCCAGTTCGTGAGGTTCGACAGCGACGCCGCGAGTCCGAGGATGGCGCCCCGGGCGCCATGGATAGAGCAGGAGGGGCCGGAGTATTGGGACCGGGAGACACAGATCTCCAAGACCAACACACAGACTTACCGAGAGAGCCTGCGGAACCTGCGCGGCTACTACAACCAGAGCGAGGCCG"
},
"request" : {
"method" : "POST",
"url" : "MolecularSequence"
}
},
{
"fullUrl" : "urn:uuid:c233ad3d-1572-48d6-93da-0a583535e138",
"resource" : {
"resourceType" : "MolecularSequence",
"id" : "CG-IG-HLA-FullBundle-01-14",
"text" : {
"status" : "generated",
"div" : "<div xmlns=\"http://www.w3.org/1999/xhtml\"><p><b>Generated Narrative: MolecularSequence</b><a name=\"CG-IG-HLA-FullBundle-01-14\"> </a></p><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\">Resource MolecularSequence "CG-IG-HLA-FullBundle-01-14" </p></div><p><b>type</b>: dna</p><p><b>coordinateSystem</b>: 0</p><h3>ReferenceSeqs</h3><table class=\"grid\"><tr><td style=\"display: none\">-</td><td><b>ReferenceSeqId</b></td><td><b>WindowStart</b></td><td><b>WindowEnd</b></td></tr><tr><td style=\"display: none\">*</td><td>HLA-B*15:01:01:01 <span style=\"background: LightGoldenRodYellow; margin: 4px; border: 1px solid khaki\"> (hla[3.23]#HLA00162)</span></td><td>1001</td><td>1277</td></tr></table><p><b>observedSeq</b>: GGTCTCACACCCTCCAGAGGATGTACGGCTGCGACGTGGGGCCGGACGGGCGCCTCCTCCGCGGGCATGACCAGTCCGCCTACGACGGCAAGGATTACATCGCCCTGAACGAGGACCTGAGCTCCTGGACCGCGGCGGACACGGCGGCTCAGATCACCCAGCGCAAGTGGGAGGCGGCCCGTGAGGCGGAGCAGTGGAGAGCCTACCTGGAGGGCCTGTGCGTGGAGTGGCTCCGCAGATACCTGGAGAACGGGAAGGAGACGCTGCAGCGCGCGG</p></div>"
},
"type" : "dna",
"coordinateSystem" : 0,
"referenceSeq" : {
"referenceSeqId" : {
"coding" : [
{
"system" : "http://www.ebi.ac.uk/ipd/imgt/hla",
"version" : "3.23",
"code" : "HLA00162"
}
],
"text" : "HLA-B*15:01:01:01"
},
"windowStart" : 1001,
"windowEnd" : 1277
},
"observedSeq" : "GGTCTCACACCCTCCAGAGGATGTACGGCTGCGACGTGGGGCCGGACGGGCGCCTCCTCCGCGGGCATGACCAGTCCGCCTACGACGGCAAGGATTACATCGCCCTGAACGAGGACCTGAGCTCCTGGACCGCGGCGGACACGGCGGCTCAGATCACCCAGCGCAAGTGGGAGGCGGCCCGTGAGGCGGAGCAGTGGAGAGCCTACCTGGAGGGCCTGTGCGTGGAGTGGCTCCGCAGATACCTGGAGAACGGGAAGGAGACGCTGCAGCGCGCGG"
},
"request" : {
"method" : "POST",
"url" : "MolecularSequence"
}
},
{
"fullUrl" : "urn:uuid:05fa52d7-5c67-460a-8722-d3460b24d6fe",
"resource" : {
"resourceType" : "MolecularSequence",
"id" : "CG-IG-HLA-FullBundle-01-15",
"text" : {
"status" : "generated",
"div" : "<div xmlns=\"http://www.w3.org/1999/xhtml\"><p><b>Generated Narrative: MolecularSequence</b><a name=\"CG-IG-HLA-FullBundle-01-15\"> </a></p><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\">Resource MolecularSequence "CG-IG-HLA-FullBundle-01-15" </p></div><p><b>type</b>: dna</p><p><b>coordinateSystem</b>: 0</p><h3>ReferenceSeqs</h3><table class=\"grid\"><tr><td style=\"display: none\">-</td><td><b>ReferenceSeqId</b></td><td><b>WindowStart</b></td><td><b>WindowEnd</b></td></tr><tr><td style=\"display: none\">*</td><td>HLA-B*57:01:01 <span style=\"background: LightGoldenRodYellow; margin: 4px; border: 1px solid khaki\"> (hla[3.23]#HLA00381)</span></td><td>485</td><td>755</td></tr></table><p><b>observedSeq</b>: GCTCCCACTCCATGAGGTATTTCTACACCGCCATGTCCCGGCCCGGCCGCGGGGAGCCCCGCTTCATCGCAGTGGGCTACGTGGACGACACCCAGTTCGTGAGGTTCGACAGCGACGCCGCGAGTCCGAGGATGGCGCCCCGGGCGCCATGGATAGAGCAGGAGGGGCCGGAGTATTGGGACGGGGAGACACGGAACATGAAGGCCTCCGCGCAGACTTACCGAGAGAACCTGCGGATCGCGCTCCGCTACTACAACCAGAGCGAGGCCG</p></div>"
},
"type" : "dna",
"coordinateSystem" : 0,
"referenceSeq" : {
"referenceSeqId" : {
"coding" : [
{
"system" : "http://www.ebi.ac.uk/ipd/imgt/hla",
"version" : "3.23",
"code" : "HLA00381"
}
],
"text" : "HLA-B*57:01:01"
},
"windowStart" : 485,
"windowEnd" : 755
},
"observedSeq" : "GCTCCCACTCCATGAGGTATTTCTACACCGCCATGTCCCGGCCCGGCCGCGGGGAGCCCCGCTTCATCGCAGTGGGCTACGTGGACGACACCCAGTTCGTGAGGTTCGACAGCGACGCCGCGAGTCCGAGGATGGCGCCCCGGGCGCCATGGATAGAGCAGGAGGGGCCGGAGTATTGGGACGGGGAGACACGGAACATGAAGGCCTCCGCGCAGACTTACCGAGAGAACCTGCGGATCGCGCTCCGCTACTACAACCAGAGCGAGGCCG"
},
"request" : {
"method" : "POST",
"url" : "MolecularSequence"
}
},
{
"fullUrl" : "urn:uuid:db69e549-6267-4777-b4b9-8813f3329309",
"resource" : {
"resourceType" : "MolecularSequence",
"id" : "CG-IG-HLA-FullBundle-01-16",
"text" : {
"status" : "generated",
"div" : "<div xmlns=\"http://www.w3.org/1999/xhtml\"><p><b>Generated Narrative: MolecularSequence</b><a name=\"CG-IG-HLA-FullBundle-01-16\"> </a></p><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\">Resource MolecularSequence "CG-IG-HLA-FullBundle-01-16" </p></div><p><b>type</b>: dna</p><p><b>coordinateSystem</b>: 0</p><h3>ReferenceSeqs</h3><table class=\"grid\"><tr><td style=\"display: none\">-</td><td><b>ReferenceSeqId</b></td><td><b>WindowStart</b></td><td><b>WindowEnd</b></td></tr><tr><td style=\"display: none\">*</td><td>HLA-B*57:01:01 <span style=\"background: LightGoldenRodYellow; margin: 4px; border: 1px solid khaki\"> (hla[3.23]#HLA00381)</span></td><td>1001</td><td>1277</td></tr></table><p><b>observedSeq</b>: GGTCTCACATCATCCAGGTGATGTATGGCTGCGACGTGGGGCCGGACGGGCGCCTCCTCCGCGGGCATGACCAGTCCGCCTACGACGGCAAGGATTACATCGCCCTGAACGAGGACCTGAGCTCCTGGACCGCGGCGGACACGGCGGCTCAGATCACCCAGCGCAAGTGGGAGGCGGCCCGTGTGGCGGAGCAGCTGAGAGCCTACCTGGAGGGCCTGTGCGTGGAGTGGCTCCGCAGATACCTGGAGAACGGGAAGGAGACGCTGCAGCGCGCGG</p></div>"
},
"type" : "dna",
"coordinateSystem" : 0,
"referenceSeq" : {
"referenceSeqId" : {
"coding" : [
{
"system" : "http://www.ebi.ac.uk/ipd/imgt/hla",
"version" : "3.23",
"code" : "HLA00381"
}
],
"text" : "HLA-B*57:01:01"
},
"windowStart" : 1001,
"windowEnd" : 1277
},
"observedSeq" : "GGTCTCACATCATCCAGGTGATGTATGGCTGCGACGTGGGGCCGGACGGGCGCCTCCTCCGCGGGCATGACCAGTCCGCCTACGACGGCAAGGATTACATCGCCCTGAACGAGGACCTGAGCTCCTGGACCGCGGCGGACACGGCGGCTCAGATCACCCAGCGCAAGTGGGAGGCGGCCCGTGTGGCGGAGCAGCTGAGAGCCTACCTGGAGGGCCTGTGCGTGGAGTGGCTCCGCAGATACCTGGAGAACGGGAAGGAGACGCTGCAGCGCGCGG"
},
"request" : {
"method" : "POST",
"url" : "MolecularSequence"
}
},
{
"fullUrl" : "urn:uuid:e2092243-2970-49d2-a90f-b90d1d49715a",
"resource" : {
"resourceType" : "Observation",
"id" : "CG-IG-HLA-FullBundle-01-17",
"meta" : {
"profile" : [
🔗 "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/haplotype"
]
},
"text" : {
"status" : "generated",
"div" : "<div xmlns=\"http://www.w3.org/1999/xhtml\"><p><b>Generated Narrative: Observation</b><a name=\"CG-IG-HLA-FullBundle-01-17\"> </a></p><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\">Resource Observation "CG-IG-HLA-FullBundle-01-17" </p><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>: Laboratory <span style=\"background: LightGoldenRodYellow; margin: 4px; border: 1px solid khaki\"> (<a href=\"http://terminology.hl7.org/5.3.0/CodeSystem-observation-category.html\">Observation Category Codes</a>#laboratory)</span>, Genetics <span style=\"background: LightGoldenRodYellow; margin: 4px; border: 1px solid khaki\"> (<a href=\"http://terminology.hl7.org/5.3.0/CodeSystem-v2-0074.html\">diagnosticServiceSectionId</a>#GE)</span></p><p><b>code</b>: Haplotype name <span style=\"background: LightGoldenRodYellow; margin: 4px; border: 1px solid khaki\"> (<a href=\"https://loinc.org/\">LOINC</a>#84414-2)</span></p><p><b>subject</b>: <a href=\"#Patient_CG-IG-HLA-FullBundle-01-1\">See above (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=\"#Organization_CG-IG-HLA-FullBundle-01-3\">See above (urn:uuid:9243cc20-27bd-4f87-ba90-0328ed474950: aTypingLab, Inc)</a></p><p><b>value</b>: HLA-B*15:01:01G <span style=\"background: LightGoldenRodYellow; margin: 4px; border: 1px solid khaki\"> (hla[3.23]#HGG00041)</span></p><p><b>method</b>: NGS based Class I HLA-A, -B, -C genotyping <span style=\"background: LightGoldenRodYellow; margin: 4px; border: 1px solid khaki\"> (gtr#GTR000000000.0)</span></p><p><b>specimen</b>: <a href=\"#Specimen_CG-IG-HLA-FullBundle-01-2\">See above (urn:uuid:e44fbe33-6084-4ae2-a95e-8bc451c63340: buccal swab from John Storm)</a></p><p><b>derivedFrom</b>: </p><ul><li><a href=\"#MolecularSequence_CG-IG-HLA-FullBundle-01-13\">See above (urn:uuid:cbabf93e-1b4b-46f2-ba1e-d84862670670: HLA-B*15:01:01:01, exon 2)</a></li><li><a href=\"#MolecularSequence_CG-IG-HLA-FullBundle-01-14\">See above (urn:uuid:c233ad3d-1572-48d6-93da-0a583535e138: HLA-B*15:01:01:01, exon 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>Gene studied [ID] <span style=\"background: LightGoldenRodYellow; margin: 4px; border: 1px solid khaki\"> (<a href=\"https://loinc.org/\">LOINC</a>#48018-6)</span></td><td>HLA-B <span style=\"background: LightGoldenRodYellow; margin: 4px; border: 1px solid khaki\"> (<a href=\"http://terminology.hl7.org/5.3.0/CodeSystem-v3-hgnc.html\">HUGO Gene Nomenclature Committee Genes</a>#HGNC:4932)</span></td></tr></table></div>"
},
"status" : "final",
"category" : [
{
"coding" : [
{
"system" : "http://terminology.hl7.org/CodeSystem/observation-category",
"code" : "laboratory"
}
]
},
{
"coding" : [
{
"system" : "http://terminology.hl7.org/CodeSystem/v2-0074",
"code" : "GE"
}
]
}
],
"code" : {
"coding" : [
{
"system" : "http://loinc.org",
"code" : "84414-2",
"display" : "Haplotype name"
}
]
},
"subject" : {
"reference" : "urn:uuid:13f34265-335c-4853-bc38-0815315edafa",
"type" : "Patient",
"display" : "John Storm"
},
"effectiveDateTime" : "2016-12-15",
"performer" : [
{
"reference" : "urn:uuid:9243cc20-27bd-4f87-ba90-0328ed474950",
"display" : "aTypingLab, Inc"
}
],
"valueCodeableConcept" : {
"coding" : [
{
"system" : "http://www.ebi.ac.uk/ipd/imgt/hla",
"version" : "3.23",
"code" : "HGG00041",
"display" : "HLA-B*15:01:01G"
}
]
},
"method" : {
"coding" : [
{
"system" : "http://www.ncbi.nlm.nih.gov/gtr",
"code" : "GTR000000000.0"
}
],
"text" : "NGS based Class I HLA-A, -B, -C genotyping"
},
"specimen" : {
"reference" : "urn:uuid:e44fbe33-6084-4ae2-a95e-8bc451c63340",
"display" : "buccal swab from John Storm"
},
"derivedFrom" : [
{
"reference" : "urn:uuid:cbabf93e-1b4b-46f2-ba1e-d84862670670",
"type" : "MolecularSequence",
"display" : "HLA-B*15:01:01:01, exon 2"
},
{
"reference" : "urn:uuid:c233ad3d-1572-48d6-93da-0a583535e138",
"type" : "MolecularSequence",
"display" : "HLA-B*15:01:01:01, exon 3"
}
],
"component" : [
{
"code" : {
"coding" : [
{
"system" : "http://loinc.org",
"code" : "48018-6",
"display" : "Gene studied [ID]"
}
]
},
"valueCodeableConcept" : {
"coding" : [
{
"system" : "http://www.genenames.org",
"code" : "HGNC:4932",
"display" : "HLA-B"
}
]
}
}
]
},
"request" : {
"method" : "POST",
"url" : "Observation"
}
},
{
"fullUrl" : "urn:uuid:792be53e-d4fb-4887-a367-815ef6c706e5",
"resource" : {
"resourceType" : "Observation",
"id" : "CG-IG-HLA-FullBundle-01-18",
"meta" : {
"profile" : [
🔗 "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/haplotype"
]
},
"text" : {
"status" : "generated",
"div" : "<div xmlns=\"http://www.w3.org/1999/xhtml\"><p><b>Generated Narrative: Observation</b><a name=\"CG-IG-HLA-FullBundle-01-18\"> </a></p><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\">Resource Observation "CG-IG-HLA-FullBundle-01-18" </p><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>: Laboratory <span style=\"background: LightGoldenRodYellow; margin: 4px; border: 1px solid khaki\"> (<a href=\"http://terminology.hl7.org/5.3.0/CodeSystem-observation-category.html\">Observation Category Codes</a>#laboratory)</span>, Genetics <span style=\"background: LightGoldenRodYellow; margin: 4px; border: 1px solid khaki\"> (<a href=\"http://terminology.hl7.org/5.3.0/CodeSystem-v2-0074.html\">diagnosticServiceSectionId</a>#GE)</span></p><p><b>code</b>: Haplotype name <span style=\"background: LightGoldenRodYellow; margin: 4px; border: 1px solid khaki\"> (<a href=\"https://loinc.org/\">LOINC</a>#84414-2)</span></p><p><b>subject</b>: <a href=\"#Patient_CG-IG-HLA-FullBundle-01-1\">See above (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=\"#Organization_CG-IG-HLA-FullBundle-01-3\">See above (urn:uuid:9243cc20-27bd-4f87-ba90-0328ed474950: aTypingLab, Inc)</a></p><p><b>value</b>: HLA-B*57:01:01G <span style=\"background: LightGoldenRodYellow; margin: 4px; border: 1px solid khaki\"> (hla[3.23]#HLA-B*57:01:01G)</span></p><p><b>method</b>: NGS based Class I HLA-A, -B, -C genotyping <span style=\"background: LightGoldenRodYellow; margin: 4px; border: 1px solid khaki\"> (gtr#GTR000000000.0)</span></p><p><b>specimen</b>: <a href=\"#Specimen_CG-IG-HLA-FullBundle-01-2\">See above (urn:uuid:e44fbe33-6084-4ae2-a95e-8bc451c63340: buccal swab from John Storm)</a></p><p><b>derivedFrom</b>: </p><ul><li><a href=\"#MolecularSequence_CG-IG-HLA-FullBundle-01-15\">See above (urn:uuid:05fa52d7-5c67-460a-8722-d3460b24d6fe: HLA-B*57:01:01, exon 2)</a></li><li><a href=\"#MolecularSequence_CG-IG-HLA-FullBundle-01-16\">See above (urn:uuid:db69e549-6267-4777-b4b9-8813f3329309: HLA-B*57:01:01, exon 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>Gene studied [ID] <span style=\"background: LightGoldenRodYellow; margin: 4px; border: 1px solid khaki\"> (<a href=\"https://loinc.org/\">LOINC</a>#48018-6)</span></td><td>HLA-B <span style=\"background: LightGoldenRodYellow; margin: 4px; border: 1px solid khaki\"> (<a href=\"http://terminology.hl7.org/5.3.0/CodeSystem-v3-hgnc.html\">HUGO Gene Nomenclature Committee Genes</a>#HGNC:4932)</span></td></tr></table></div>"
},
"status" : "final",
"category" : [
{
"coding" : [
{
"system" : "http://terminology.hl7.org/CodeSystem/observation-category",
"code" : "laboratory"
}
]
},
{
"coding" : [
{
"system" : "http://terminology.hl7.org/CodeSystem/v2-0074",
"code" : "GE"
}
]
}
],
"code" : {
"coding" : [
{
"system" : "http://loinc.org",
"code" : "84414-2",
"display" : "Haplotype name"
}
]
},
"subject" : {
"reference" : "urn:uuid:13f34265-335c-4853-bc38-0815315edafa",
"type" : "Patient",
"display" : "John Storm"
},
"effectiveDateTime" : "2016-12-15",
"performer" : [
{
"reference" : "urn:uuid:9243cc20-27bd-4f87-ba90-0328ed474950",
"display" : "aTypingLab, Inc"
}
],
"valueCodeableConcept" : {
"coding" : [
{
"system" : "http://www.ebi.ac.uk/ipd/imgt/hla",
"version" : "3.23",
"code" : "HLA-B*57:01:01G",
"display" : "HLA-B*57:01:01G"
}
]
},
"method" : {
"coding" : [
{
"system" : "http://www.ncbi.nlm.nih.gov/gtr",
"code" : "GTR000000000.0"
}
],
"text" : "NGS based Class I HLA-A, -B, -C genotyping"
},
"specimen" : {
"reference" : "urn:uuid:e44fbe33-6084-4ae2-a95e-8bc451c63340",
"display" : "buccal swab from John Storm"
},
"derivedFrom" : [
{
"reference" : "urn:uuid:05fa52d7-5c67-460a-8722-d3460b24d6fe",
"type" : "MolecularSequence",
"display" : "HLA-B*57:01:01, exon 2"
},
{
"reference" : "urn:uuid:db69e549-6267-4777-b4b9-8813f3329309",
"type" : "MolecularSequence",
"display" : "HLA-B*57:01:01, exon 3"
}
],
"component" : [
{
"code" : {
"coding" : [
{
"system" : "http://loinc.org",
"code" : "48018-6",
"display" : "Gene studied [ID]"
}
]
},
"valueCodeableConcept" : {
"coding" : [
{
"system" : "http://www.genenames.org",
"code" : "HGNC:4932",
"display" : "HLA-B"
}
]
}
}
]
},
"request" : {
"method" : "POST",
"url" : "Observation"
}
},
{
"fullUrl" : "urn:uuid:60613a43-c4cb-4502-b3e2-cf9215feaa70",
"resource" : {
"resourceType" : "Observation",
"id" : "CG-IG-HLA-FullBundle-01-19",
"meta" : {
"profile" : [
🔗 "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/genotype"
]
},
"text" : {
"status" : "generated",
"div" : "<div xmlns=\"http://www.w3.org/1999/xhtml\"><p><b>Generated Narrative: Observation</b><a name=\"CG-IG-HLA-FullBundle-01-19\"> </a></p><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\">Resource Observation "CG-IG-HLA-FullBundle-01-19" </p><p style=\"margin-bottom: 0px\">Profile: <a href=\"StructureDefinition-genotype.html\">Genotype</a></p></div><p><b>basedOn</b>: <a href=\"#ServiceRequest_CG-IG-HLA-FullBundle-01-5\">See above (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>: Laboratory <span style=\"background: LightGoldenRodYellow; margin: 4px; border: 1px solid khaki\"> (<a href=\"http://terminology.hl7.org/5.3.0/CodeSystem-observation-category.html\">Observation Category Codes</a>#laboratory)</span>, Genetics <span style=\"background: LightGoldenRodYellow; margin: 4px; border: 1px solid khaki\"> (<a href=\"http://terminology.hl7.org/5.3.0/CodeSystem-v2-0074.html\">diagnosticServiceSectionId</a>#GE)</span></p><p><b>code</b>: Genotype display name <span style=\"background: LightGoldenRodYellow; margin: 4px; border: 1px solid khaki\"> (<a href=\"https://loinc.org/\">LOINC</a>#84413-4)</span></p><p><b>subject</b>: <a href=\"#Patient_CG-IG-HLA-FullBundle-01-1\">See above (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=\"#Organization_CG-IG-HLA-FullBundle-01-3\">See above (urn:uuid:9243cc20-27bd-4f87-ba90-0328ed474950: aTypingLab, Inc)</a></p><p><b>value</b>: hla#3.23.0#HLA-B*15:01:01G+HLA-B*57:01:01G <span style=\"background: LightGoldenRodYellow; margin: 4px; border: 1px solid khaki\"> (glstring.org[1.0]#hla#3.23.0#HLA-B*15:01:01G+HLA-B*57:01:01G)</span></p><p><b>method</b>: NGS based Class I HLA-A, -B, -C genotyping <span style=\"background: LightGoldenRodYellow; margin: 4px; border: 1px solid khaki\"> (gtr#GTR000000000.0)</span></p><p><b>specimen</b>: <a href=\"#Specimen_CG-IG-HLA-FullBundle-01-2\">See above (urn:uuid:e44fbe33-6084-4ae2-a95e-8bc451c63340: buccal swab from John Storm)</a></p><p><b>derivedFrom</b>: </p><ul><li><a href=\"#Observation_CG-IG-HLA-FullBundle-01-17\">See above (urn:uuid:e2092243-2970-49d2-a90f-b90d1d49715a: HLA-B*15:01:01G, exons 2 and 3)</a></li><li><a href=\"#Observation_CG-IG-HLA-FullBundle-01-18\">See above (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>Gene studied [ID] <span style=\"background: LightGoldenRodYellow; margin: 4px; border: 1px solid khaki\"> (<a href=\"https://loinc.org/\">LOINC</a>#48018-6)</span></td><td>HLA-B <span style=\"background: LightGoldenRodYellow; margin: 4px; border: 1px solid khaki\"> (<a href=\"http://terminology.hl7.org/5.3.0/CodeSystem-v3-hgnc.html\">HUGO Gene Nomenclature Committee Genes</a>#HGNC:4932)</span></td></tr></table></div>"
},
"basedOn" : [
{
"reference" : "urn:uuid:99309303-045e-4cf4-90d7-250d7a7476ea",
"type" : "ServiceRequest",
"display" : "Class I HLA genotyping for John Storm"
}
],
"status" : "final",
"category" : [
{
"coding" : [
{
"system" : "http://terminology.hl7.org/CodeSystem/observation-category",
"code" : "laboratory"
}
]
},
{
"coding" : [
{
"system" : "http://terminology.hl7.org/CodeSystem/v2-0074",
"code" : "GE"
}
]
}
],
"code" : {
"coding" : [
{
"system" : "http://loinc.org",
"code" : "84413-4",
"display" : "Genotype display name"
}
]
},
"subject" : {
"reference" : "urn:uuid:13f34265-335c-4853-bc38-0815315edafa",
"type" : "Patient",
"display" : "John Storm"
},
"effectiveDateTime" : "2016-12-15",
"performer" : [
{
"reference" : "urn:uuid:9243cc20-27bd-4f87-ba90-0328ed474950",
"display" : "aTypingLab, Inc"
}
],
"valueCodeableConcept" : {
"coding" : [
{
"system" : "http://glstring.org",
"version" : "1.0",
"code" : "hla#3.23.0#HLA-B*15:01:01G+HLA-B*57:01:01G"
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]
},
"method" : {
"coding" : [
{
"system" : "http://www.ncbi.nlm.nih.gov/gtr",
"code" : "GTR000000000.0"
}
],
"text" : "NGS based Class I HLA-A, -B, -C genotyping"
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"specimen" : {
"reference" : "urn:uuid:e44fbe33-6084-4ae2-a95e-8bc451c63340",
"display" : "buccal swab from John Storm"
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{
"reference" : "urn:uuid:e2092243-2970-49d2-a90f-b90d1d49715a",
"type" : "Observation",
"display" : "HLA-B*15:01:01G, exons 2 and 3"
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{
"reference" : "urn:uuid:792be53e-d4fb-4887-a367-815ef6c706e5",
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],
"component" : [
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"code" : "48018-6",
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"valueCodeableConcept" : {
"coding" : [
{
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"code" : "HGNC:4932",
"display" : "HLA-B"
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}
}
]
},
"request" : {
"method" : "POST",
"url" : "Observation"
}
},
{
"fullUrl" : "urn:uuid:bb55c2bc-5ad2-4bc1-8ff3-c407d06b12d0",
"resource" : {
"resourceType" : "MolecularSequence",
"id" : "CG-IG-HLA-FullBundle-01-20",
"text" : {
"status" : "generated",
"div" : "<div xmlns=\"http://www.w3.org/1999/xhtml\"><p><b>Generated Narrative: MolecularSequence</b><a name=\"CG-IG-HLA-FullBundle-01-20\"> </a></p><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\">Resource MolecularSequence "CG-IG-HLA-FullBundle-01-20" </p></div><p><b>type</b>: dna</p><p><b>coordinateSystem</b>: 0</p><h3>ReferenceSeqs</h3><table class=\"grid\"><tr><td style=\"display: none\">-</td><td><b>ReferenceSeqId</b></td><td><b>WindowStart</b></td><td><b>WindowEnd</b></td></tr><tr><td style=\"display: none\">*</td><td>HLA-C*01:02:01 <span style=\"background: LightGoldenRodYellow; margin: 4px; border: 1px solid khaki\"> (hla[3.23]#HLA00401)</span></td><td>486</td><td>756</td></tr></table><p><b>observedSeq</b>: GCTCCCACTCCATGAAGTATTTCTTCACATCCGTGTCCCGGCCTGGCCGCGGAGAGCCCCGCTTCATCTCAGTGGGCTACGTGGACGACACGCAGTTCGTGCGGTTCGACAGCGACGCCGCGAGTCCGAGAGGGGAGCCGCGGGCGCCGTGGGTGGAGCAGGAGGGGCCGGAGTATTGGGACCGGGAGACACAGAAGTACAAGCGCCAGGCACAGACTGACCGAGTGAGCCTGCGGAACCTGCGCGGCTACTACAACCAGAGCGAGGCCG</p></div>"
},
"type" : "dna",
"coordinateSystem" : 0,
"referenceSeq" : {
"referenceSeqId" : {
"coding" : [
{
"system" : "http://www.ebi.ac.uk/ipd/imgt/hla",
"version" : "3.23",
"code" : "HLA00401"
}
],
"text" : "HLA-C*01:02:01"
},
"windowStart" : 486,
"windowEnd" : 756
},
"observedSeq" : "GCTCCCACTCCATGAAGTATTTCTTCACATCCGTGTCCCGGCCTGGCCGCGGAGAGCCCCGCTTCATCTCAGTGGGCTACGTGGACGACACGCAGTTCGTGCGGTTCGACAGCGACGCCGCGAGTCCGAGAGGGGAGCCGCGGGCGCCGTGGGTGGAGCAGGAGGGGCCGGAGTATTGGGACCGGGAGACACAGAAGTACAAGCGCCAGGCACAGACTGACCGAGTGAGCCTGCGGAACCTGCGCGGCTACTACAACCAGAGCGAGGCCG"
},
"request" : {
"method" : "POST",
"url" : "MolecularSequence"
}
},
{
"fullUrl" : "urn:uuid:46938bb2-0486-4e87-bfd3-89aab2d5e22f",
"resource" : {
"resourceType" : "MolecularSequence",
"id" : "CG-IG-HLA-FullBundle-01-21",
"text" : {
"status" : "generated",
"div" : "<div xmlns=\"http://www.w3.org/1999/xhtml\"><p><b>Generated Narrative: MolecularSequence</b><a name=\"CG-IG-HLA-FullBundle-01-21\"> </a></p><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\">Resource MolecularSequence "CG-IG-HLA-FullBundle-01-21" </p></div><p><b>type</b>: dna</p><p><b>coordinateSystem</b>: 0</p><h3>ReferenceSeqs</h3><table class=\"grid\"><tr><td style=\"display: none\">-</td><td><b>ReferenceSeqId</b></td><td><b>WindowStart</b></td><td><b>WindowEnd</b></td></tr><tr><td style=\"display: none\">*</td><td>HLA-C*01:02:01 <span style=\"background: LightGoldenRodYellow; margin: 4px; border: 1px solid khaki\"> (hla[3.23]#HLA00401)</span></td><td>1002</td><td>1278</td></tr></table><p><b>observedSeq</b>: GGTCTCACACCCTCCAGTGGATGTGTGGCTGCGACCTGGGGCCCGACGGGCGCCTCCTCCGCGGGTATGACCAGTACGCCTACGACGGCAAGGATTACATCGCCCTGAACGAGGACCTGCGCTCCTGGACCGCCGCGGACACCGCGGCTCAGATCACCCAGCGCAAGTGGGAGGCGGCCCGTGAGGCGGAGCAGCGGAGAGCCTACCTGGAGGGCACGTGCGTGGAGTGGCTCCGCAGATACCTGGAGAACGGGAAGGAGACGCTGCAGCGCGCGG</p></div>"
},
"type" : "dna",
"coordinateSystem" : 0,
"referenceSeq" : {
"referenceSeqId" : {
"coding" : [
{
"system" : "http://www.ebi.ac.uk/ipd/imgt/hla",
"version" : "3.23",
"code" : "HLA00401"
}
],
"text" : "HLA-C*01:02:01"
},
"windowStart" : 1002,
"windowEnd" : 1278
},
"observedSeq" : "GGTCTCACACCCTCCAGTGGATGTGTGGCTGCGACCTGGGGCCCGACGGGCGCCTCCTCCGCGGGTATGACCAGTACGCCTACGACGGCAAGGATTACATCGCCCTGAACGAGGACCTGCGCTCCTGGACCGCCGCGGACACCGCGGCTCAGATCACCCAGCGCAAGTGGGAGGCGGCCCGTGAGGCGGAGCAGCGGAGAGCCTACCTGGAGGGCACGTGCGTGGAGTGGCTCCGCAGATACCTGGAGAACGGGAAGGAGACGCTGCAGCGCGCGG"
},
"request" : {
"method" : "POST",
"url" : "MolecularSequence"
}
},
{
"fullUrl" : "urn:uuid:2ae2ff34-279e-43c2-9018-b054fd3fc1ce",
"resource" : {
"resourceType" : "MolecularSequence",
"id" : "CG-IG-HLA-FullBundle-01-22",
"text" : {
"status" : "generated",
"div" : "<div xmlns=\"http://www.w3.org/1999/xhtml\"><p><b>Generated Narrative: MolecularSequence</b><a name=\"CG-IG-HLA-FullBundle-01-22\"> </a></p><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\">Resource MolecularSequence "CG-IG-HLA-FullBundle-01-22" </p></div><p><b>type</b>: dna</p><p><b>coordinateSystem</b>: 0</p><h3>ReferenceSeqs</h3><table class=\"grid\"><tr><td style=\"display: none\">-</td><td><b>ReferenceSeqId</b></td><td><b>WindowStart</b></td><td><b>WindowEnd</b></td></tr><tr><td style=\"display: none\">*</td><td>HLA-C*03:04:01:01 <span style=\"background: LightGoldenRodYellow; margin: 4px; border: 1px solid khaki\"> (hla[3.23]#HLA00413)</span></td><td>486</td><td>756</td></tr></table><p><b>observedSeq</b>: GCTCCCACTCCATGAGGTATTTCTACACCGCTGTGTCCCGGCCCGGCCGCGGGGAGCCCCACTTCATCGCAGTGGGCTACGTGGACGACACGCAGTTCGTGCGGTTCGACAGCGACGCCGCGAGTCCGAGAGGGGAGCCGCGGGCGCCGTGGGTGGAGCAGGAGGGGCCGGAGTATTGGGACCGGGAGACACAGAAGTACAAGCGCCAGGCACAGACTGACCGAGTGAGCCTGCGGAACCTGCGCGGCTACTACAACCAGAGCGAGGCCG</p></div>"
},
"type" : "dna",
"coordinateSystem" : 0,
"referenceSeq" : {
"referenceSeqId" : {
"coding" : [
{
"system" : "http://www.ebi.ac.uk/ipd/imgt/hla",
"version" : "3.23",
"code" : "HLA00413"
}
],
"text" : "HLA-C*03:04:01:01"
},
"windowStart" : 486,
"windowEnd" : 756
},
"observedSeq" : "GCTCCCACTCCATGAGGTATTTCTACACCGCTGTGTCCCGGCCCGGCCGCGGGGAGCCCCACTTCATCGCAGTGGGCTACGTGGACGACACGCAGTTCGTGCGGTTCGACAGCGACGCCGCGAGTCCGAGAGGGGAGCCGCGGGCGCCGTGGGTGGAGCAGGAGGGGCCGGAGTATTGGGACCGGGAGACACAGAAGTACAAGCGCCAGGCACAGACTGACCGAGTGAGCCTGCGGAACCTGCGCGGCTACTACAACCAGAGCGAGGCCG"
},
"request" : {
"method" : "POST",
"url" : "MolecularSequence"
}
},
{
"fullUrl" : "urn:uuid:19153ef1-68c6-47a2-9676-c4eefbd39af9",
"resource" : {
"resourceType" : "MolecularSequence",
"id" : "CG-IG-HLA-FullBundle-01-23",
"text" : {
"status" : "generated",
"div" : "<div xmlns=\"http://www.w3.org/1999/xhtml\"><p><b>Generated Narrative: MolecularSequence</b><a name=\"CG-IG-HLA-FullBundle-01-23\"> </a></p><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\">Resource MolecularSequence "CG-IG-HLA-FullBundle-01-23" </p></div><p><b>type</b>: dna</p><p><b>coordinateSystem</b>: 0</p><h3>ReferenceSeqs</h3><table class=\"grid\"><tr><td style=\"display: none\">-</td><td><b>ReferenceSeqId</b></td><td><b>WindowStart</b></td><td><b>WindowEnd</b></td></tr><tr><td style=\"display: none\">*</td><td>HLA-C*03:04:01:01 <span style=\"background: LightGoldenRodYellow; margin: 4px; border: 1px solid khaki\"> (hla[3.23]#HLA00413)</span></td><td>1001</td><td>1277</td></tr></table><p><b>observedSeq</b>: GGTCTCACATCATCCAGAGGATGTATGGCTGCGACGTGGGGCCCGACGGGCGCCTCCTCCGCGGGTATGACCAGTACGCCTACGACGGCAAGGATTACATCGCCCTGAACGAGGATCTGCGCTCCTGGACCGCCGCGGACACGGCGGCTCAGATCACCCAGCGCAAGTGGGAGGCGGCCCGTGAGGCGGAGCAGCTGAGAGCCTACCTGGAGGGCCTGTGCGTGGAGTGGCTCCGCAGATACCTGAAGAATGGGAAGGAGACGCTGCAGCGCGCGG</p></div>"
},
"type" : "dna",
"coordinateSystem" : 0,
"referenceSeq" : {
"referenceSeqId" : {
"coding" : [
{
"system" : "http://www.ebi.ac.uk/ipd/imgt/hla",
"version" : "3.23",
"code" : "HLA00413"
}
],
"text" : "HLA-C*03:04:01:01"
},
"windowStart" : 1001,
"windowEnd" : 1277
},
"observedSeq" : "GGTCTCACATCATCCAGAGGATGTATGGCTGCGACGTGGGGCCCGACGGGCGCCTCCTCCGCGGGTATGACCAGTACGCCTACGACGGCAAGGATTACATCGCCCTGAACGAGGATCTGCGCTCCTGGACCGCCGCGGACACGGCGGCTCAGATCACCCAGCGCAAGTGGGAGGCGGCCCGTGAGGCGGAGCAGCTGAGAGCCTACCTGGAGGGCCTGTGCGTGGAGTGGCTCCGCAGATACCTGAAGAATGGGAAGGAGACGCTGCAGCGCGCGG"
},
"request" : {
"method" : "POST",
"url" : "MolecularSequence"
}
},
{
"fullUrl" : "urn:uuid:709c5315-9403-4867-9d82-0b953836665f",
"resource" : {
"resourceType" : "Observation",
"id" : "CG-IG-HLA-FullBundle-01-24",
"meta" : {
"profile" : [
🔗 "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/haplotype"
]
},
"text" : {
"status" : "generated",
"div" : "<div xmlns=\"http://www.w3.org/1999/xhtml\"><p><b>Generated Narrative: Observation</b><a name=\"CG-IG-HLA-FullBundle-01-24\"> </a></p><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\">Resource Observation "CG-IG-HLA-FullBundle-01-24" </p><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>: Laboratory <span style=\"background: LightGoldenRodYellow; margin: 4px; border: 1px solid khaki\"> (<a href=\"http://terminology.hl7.org/5.3.0/CodeSystem-observation-category.html\">Observation Category Codes</a>#laboratory)</span>, Genetics <span style=\"background: LightGoldenRodYellow; margin: 4px; border: 1px solid khaki\"> (<a href=\"http://terminology.hl7.org/5.3.0/CodeSystem-v2-0074.html\">diagnosticServiceSectionId</a>#GE)</span></p><p><b>code</b>: Haplotype name <span style=\"background: LightGoldenRodYellow; margin: 4px; border: 1px solid khaki\"> (<a href=\"https://loinc.org/\">LOINC</a>#84414-2)</span></p><p><b>subject</b>: <a href=\"#Patient_CG-IG-HLA-FullBundle-01-1\">See above (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=\"#Organization_CG-IG-HLA-FullBundle-01-3\">See above (urn:uuid:9243cc20-27bd-4f87-ba90-0328ed474950: aTypingLab, Inc)</a></p><p><b>value</b>: HLA-C*01:02:01G <span style=\"background: LightGoldenRodYellow; margin: 4px; border: 1px solid khaki\"> (hla[3.23]#HLA-C*01:02:01G)</span></p><p><b>method</b>: NGS based Class I HLA-A, -B, -C genotyping <span style=\"background: LightGoldenRodYellow; margin: 4px; border: 1px solid khaki\"> (gtr#GTR000000000.0)</span></p><p><b>specimen</b>: <a href=\"#Specimen_CG-IG-HLA-FullBundle-01-2\">See above (urn:uuid:e44fbe33-6084-4ae2-a95e-8bc451c63340: buccal swab from John Storm)</a></p><p><b>derivedFrom</b>: </p><ul><li><a href=\"#MolecularSequence_CG-IG-HLA-FullBundle-01-20\">See above (urn:uuid:bb55c2bc-5ad2-4bc1-8ff3-c407d06b12d0: HLA-C*01:02:01, exon 2)</a></li><li><a href=\"#MolecularSequence_CG-IG-HLA-FullBundle-01-21\">See above (urn:uuid:46938bb2-0486-4e87-bfd3-89aab2d5e22f: HLA-C*01:02:01, exon 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>Gene studied [ID] <span style=\"background: LightGoldenRodYellow; margin: 4px; border: 1px solid khaki\"> (<a href=\"https://loinc.org/\">LOINC</a>#48018-6)</span></td><td>HLA-C <span style=\"background: LightGoldenRodYellow; margin: 4px; border: 1px solid khaki\"> (<a href=\"http://terminology.hl7.org/5.3.0/CodeSystem-v3-hgnc.html\">HUGO Gene Nomenclature Committee Genes</a>#HGNC:4933)</span></td></tr></table></div>"
},
"status" : "final",
"category" : [
{
"coding" : [
{
"system" : "http://terminology.hl7.org/CodeSystem/observation-category",
"code" : "laboratory"
}
]
},
{
"coding" : [
{
"system" : "http://terminology.hl7.org/CodeSystem/v2-0074",
"code" : "GE"
}
]
}
],
"code" : {
"coding" : [
{
"system" : "http://loinc.org",
"code" : "84414-2",
"display" : "Haplotype name"
}
]
},
"subject" : {
"reference" : "urn:uuid:13f34265-335c-4853-bc38-0815315edafa",
"type" : "Patient",
"display" : "John Storm"
},
"effectiveDateTime" : "2016-12-15",
"performer" : [
{
"reference" : "urn:uuid:9243cc20-27bd-4f87-ba90-0328ed474950",
"display" : "aTypingLab, Inc"
}
],
"valueCodeableConcept" : {
"coding" : [
{
"system" : "http://www.ebi.ac.uk/ipd/imgt/hla",
"version" : "3.23",
"code" : "HLA-C*01:02:01G",
"display" : "HLA-C*01:02:01G"
}
]
},
"method" : {
"coding" : [
{
"system" : "http://www.ncbi.nlm.nih.gov/gtr",
"code" : "GTR000000000.0"
}
],
"text" : "NGS based Class I HLA-A, -B, -C genotyping"
},
"specimen" : {
"reference" : "urn:uuid:e44fbe33-6084-4ae2-a95e-8bc451c63340",
"display" : "buccal swab from John Storm"
},
"derivedFrom" : [
{
"reference" : "urn:uuid:bb55c2bc-5ad2-4bc1-8ff3-c407d06b12d0",
"type" : "MolecularSequence",
"display" : "HLA-C*01:02:01, exon 2"
},
{
"reference" : "urn:uuid:46938bb2-0486-4e87-bfd3-89aab2d5e22f",
"type" : "MolecularSequence",
"display" : "HLA-C*01:02:01, exon 3"
}
],
"component" : [
{
"code" : {
"coding" : [
{
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"code" : "48018-6",
"display" : "Gene studied [ID]"
}
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},
"valueCodeableConcept" : {
"coding" : [
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},
"request" : {
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{
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"resourceType" : "Observation",
"id" : "CG-IG-HLA-FullBundle-01-25",
"meta" : {
"profile" : [
🔗 "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/haplotype"
]
},
"text" : {
"status" : "generated",
"div" : "<div xmlns=\"http://www.w3.org/1999/xhtml\"><p><b>Generated Narrative: Observation</b><a name=\"CG-IG-HLA-FullBundle-01-25\"> </a></p><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\">Resource Observation "CG-IG-HLA-FullBundle-01-25" </p><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>: Laboratory <span style=\"background: LightGoldenRodYellow; margin: 4px; border: 1px solid khaki\"> (<a href=\"http://terminology.hl7.org/5.3.0/CodeSystem-observation-category.html\">Observation Category Codes</a>#laboratory)</span>, Genetics <span style=\"background: LightGoldenRodYellow; margin: 4px; border: 1px solid khaki\"> (<a href=\"http://terminology.hl7.org/5.3.0/CodeSystem-v2-0074.html\">diagnosticServiceSectionId</a>#GE)</span></p><p><b>code</b>: Haplotype name <span style=\"background: LightGoldenRodYellow; margin: 4px; border: 1px solid khaki\"> (<a href=\"https://loinc.org/\">LOINC</a>#84414-2)</span></p><p><b>subject</b>: <a href=\"#Patient_CG-IG-HLA-FullBundle-01-1\">See above (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=\"#Organization_CG-IG-HLA-FullBundle-01-3\">See above (urn:uuid:9243cc20-27bd-4f87-ba90-0328ed474950: aTypingLab, Inc)</a></p><p><b>value</b>: HLA-C*01:02:01G <span style=\"background: LightGoldenRodYellow; margin: 4px; border: 1px solid khaki\"> (hla[3.23]#HLA-C*01:02:01G)</span></p><p><b>method</b>: NGS based Class I HLA-A, -B, -C genotyping <span style=\"background: LightGoldenRodYellow; margin: 4px; border: 1px solid khaki\"> (gtr#GTR000000000.0)</span></p><p><b>specimen</b>: <a href=\"#Specimen_CG-IG-HLA-FullBundle-01-2\">See above (urn:uuid:e44fbe33-6084-4ae2-a95e-8bc451c63340: buccal swab from John Storm)</a></p><p><b>derivedFrom</b>: </p><ul><li><a href=\"#MolecularSequence_CG-IG-HLA-FullBundle-01-22\">See above (urn:uuid:2ae2ff34-279e-43c2-9018-b054fd3fc1ce: HLA-C*03:04:01:01, exon 2)</a></li><li><a href=\"#MolecularSequence_CG-IG-HLA-FullBundle-01-23\">See above (urn:uuid:19153ef1-68c6-47a2-9676-c4eefbd39af9: HLA-C*03:04:01:01, exon 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>Gene studied [ID] <span style=\"background: LightGoldenRodYellow; margin: 4px; border: 1px solid khaki\"> (<a href=\"https://loinc.org/\">LOINC</a>#48018-6)</span></td><td>HLA-C <span style=\"background: LightGoldenRodYellow; margin: 4px; border: 1px solid khaki\"> (<a href=\"http://terminology.hl7.org/5.3.0/CodeSystem-v3-hgnc.html\">HUGO Gene Nomenclature Committee Genes</a>#HGNC:4933)</span></td></tr></table></div>"
},
"status" : "final",
"category" : [
{
"coding" : [
{
"system" : "http://terminology.hl7.org/CodeSystem/observation-category",
"code" : "laboratory"
}
]
},
{
"coding" : [
{
"system" : "http://terminology.hl7.org/CodeSystem/v2-0074",
"code" : "GE"
}
]
}
],
"code" : {
"coding" : [
{
"system" : "http://loinc.org",
"code" : "84414-2",
"display" : "Haplotype name"
}
]
},
"subject" : {
"reference" : "urn:uuid:13f34265-335c-4853-bc38-0815315edafa",
"type" : "Patient",
"display" : "John Storm"
},
"effectiveDateTime" : "2016-12-15",
"performer" : [
{
"reference" : "urn:uuid:9243cc20-27bd-4f87-ba90-0328ed474950",
"display" : "aTypingLab, Inc"
}
],
"valueCodeableConcept" : {
"coding" : [
{
"system" : "http://www.ebi.ac.uk/ipd/imgt/hla",
"version" : "3.23",
"code" : "HLA-C*01:02:01G",
"display" : "HLA-C*01:02:01G"
}
]
},
"method" : {
"coding" : [
{
"system" : "http://www.ncbi.nlm.nih.gov/gtr",
"code" : "GTR000000000.0"
}
],
"text" : "NGS based Class I HLA-A, -B, -C genotyping"
},
"specimen" : {
"reference" : "urn:uuid:e44fbe33-6084-4ae2-a95e-8bc451c63340",
"display" : "buccal swab from John Storm"
},
"derivedFrom" : [
{
"reference" : "urn:uuid:2ae2ff34-279e-43c2-9018-b054fd3fc1ce",
"type" : "MolecularSequence",
"display" : "HLA-C*03:04:01:01, exon 2"
},
{
"reference" : "urn:uuid:19153ef1-68c6-47a2-9676-c4eefbd39af9",
"type" : "MolecularSequence",
"display" : "HLA-C*03:04:01:01, exon 3"
}
],
"component" : [
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"system" : "http://loinc.org",
"code" : "48018-6",
"display" : "Gene studied [ID]"
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"valueCodeableConcept" : {
"coding" : [
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"system" : "http://www.genenames.org",
"code" : "HGNC:4933",
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},
"request" : {
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},
{
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"resource" : {
"resourceType" : "Observation",
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"meta" : {
"profile" : [
🔗 "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/genotype"
]
},
"text" : {
"status" : "generated",
"div" : "<div xmlns=\"http://www.w3.org/1999/xhtml\"><p><b>Generated Narrative: Observation</b><a name=\"CG-IG-HLA-FullBundle-01-26\"> </a></p><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\">Resource Observation "CG-IG-HLA-FullBundle-01-26" </p><p style=\"margin-bottom: 0px\">Profile: <a href=\"StructureDefinition-genotype.html\">Genotype</a></p></div><p><b>basedOn</b>: <a href=\"#ServiceRequest_CG-IG-HLA-FullBundle-01-5\">See above (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>: Laboratory <span style=\"background: LightGoldenRodYellow; margin: 4px; border: 1px solid khaki\"> (<a href=\"http://terminology.hl7.org/5.3.0/CodeSystem-observation-category.html\">Observation Category Codes</a>#laboratory)</span>, Genetics <span style=\"background: LightGoldenRodYellow; margin: 4px; border: 1px solid khaki\"> (<a href=\"http://terminology.hl7.org/5.3.0/CodeSystem-v2-0074.html\">diagnosticServiceSectionId</a>#GE)</span></p><p><b>code</b>: Genotype display name <span style=\"background: LightGoldenRodYellow; margin: 4px; border: 1px solid khaki\"> (<a href=\"https://loinc.org/\">LOINC</a>#84413-4)</span></p><p><b>subject</b>: <a href=\"#Patient_CG-IG-HLA-FullBundle-01-1\">See above (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=\"#Organization_CG-IG-HLA-FullBundle-01-3\">See above (urn:uuid:9243cc20-27bd-4f87-ba90-0328ed474950: aTypingLab, Inc)</a></p><p><b>value</b>: hla#3.23.0#HLA-C*01:02:01G+HLA-C*03:04:01G <span style=\"background: LightGoldenRodYellow; margin: 4px; border: 1px solid khaki\"> (glstring.org[1.0]#hla#3.23.0#HLA-C*01:02:01G+HLA-C*03:04:01G)</span></p><p><b>method</b>: NGS based Class I HLA-A, -B, -C genotyping <span style=\"background: LightGoldenRodYellow; margin: 4px; border: 1px solid khaki\"> (gtr#GTR000000000.0)</span></p><p><b>specimen</b>: <a href=\"#Specimen_CG-IG-HLA-FullBundle-01-2\">See above (urn:uuid:e44fbe33-6084-4ae2-a95e-8bc451c63340: buccal swab from John Storm)</a></p><p><b>derivedFrom</b>: </p><ul><li><a href=\"#Observation_CG-IG-HLA-FullBundle-01-25\">See above (urn:uuid:8b2aa21c-1426-4717-8ab0-a84d83df7d47: HLA-C*03:04:01G, exons 2 and 3)</a></li><li><a href=\"#Observation_CG-IG-HLA-FullBundle-01-24\">See above (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>Gene studied [ID] <span style=\"background: LightGoldenRodYellow; margin: 4px; border: 1px solid khaki\"> (<a href=\"https://loinc.org/\">LOINC</a>#48018-6)</span></td><td>HLA-C <span style=\"background: LightGoldenRodYellow; margin: 4px; border: 1px solid khaki\"> (<a href=\"http://terminology.hl7.org/5.3.0/CodeSystem-v3-hgnc.html\">HUGO Gene Nomenclature Committee Genes</a>#HGNC:4933)</span></td></tr></table></div>"
},
"basedOn" : [
{
"reference" : "urn:uuid:99309303-045e-4cf4-90d7-250d7a7476ea",
"type" : "ServiceRequest",
"display" : "Class I HLA genotyping for John Storm"
}
],
"status" : "final",
"category" : [
{
"coding" : [
{
"system" : "http://terminology.hl7.org/CodeSystem/observation-category",
"code" : "laboratory"
}
]
},
{
"coding" : [
{
"system" : "http://terminology.hl7.org/CodeSystem/v2-0074",
"code" : "GE"
}
]
}
],
"code" : {
"coding" : [
{
"system" : "http://loinc.org",
"code" : "84413-4",
"display" : "Genotype display name"
}
]
},
"subject" : {
"reference" : "urn:uuid:13f34265-335c-4853-bc38-0815315edafa",
"type" : "Patient",
"display" : "John Storm"
},
"effectiveDateTime" : "2016-12-15",
"performer" : [
{
"reference" : "urn:uuid:9243cc20-27bd-4f87-ba90-0328ed474950",
"display" : "aTypingLab, Inc"
}
],
"valueCodeableConcept" : {
"coding" : [
{
"system" : "http://glstring.org",
"version" : "1.0",
"code" : "hla#3.23.0#HLA-C*01:02:01G+HLA-C*03:04:01G"
}
]
},
"method" : {
"coding" : [
{
"system" : "http://www.ncbi.nlm.nih.gov/gtr",
"code" : "GTR000000000.0"
}
],
"text" : "NGS based Class I HLA-A, -B, -C genotyping"
},
"specimen" : {
"reference" : "urn:uuid:e44fbe33-6084-4ae2-a95e-8bc451c63340",
"display" : "buccal swab from John Storm"
},
"derivedFrom" : [
{
"reference" : "urn:uuid:8b2aa21c-1426-4717-8ab0-a84d83df7d47",
"type" : "Observation",
"display" : "HLA-C*03:04:01G, exons 2 and 3"
},
{
"reference" : "urn:uuid:709c5315-9403-4867-9d82-0b953836665f",
"type" : "Observation",
"display" : "HLA-C*01:02:01G, exons 2 and 3"
}
],
"component" : [
{
"code" : {
"coding" : [
{
"system" : "http://loinc.org",
"code" : "48018-6",
"display" : "Gene studied [ID]"
}
]
},
"valueCodeableConcept" : {
"coding" : [
{
"system" : "http://www.genenames.org",
"code" : "HGNC:4933",
"display" : "HLA-C"
}
]
}
}
]
},
"request" : {
"method" : "POST",
"url" : "Observation"
}
},
{
"fullUrl" : "urn:uuid:b0a4b18e-94e7-4b1b-8031-c7ae4bdd8db9",
"resource" : {
"resourceType" : "DiagnosticReport",
"id" : "CG-IG-HLA-FullBundle-01-27",
"meta" : {
"profile" : [
🔗 "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/genomic-report"
]
},
"text" : {
"status" : "extensions",
"div" : "<div xmlns=\"http://www.w3.org/1999/xhtml\"><p><b>Generated Narrative: DiagnosticReport</b><a name=\"CG-IG-HLA-FullBundle-01-27\"> </a></p><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\">Resource DiagnosticReport "CG-IG-HLA-FullBundle-01-27" </p><p style=\"margin-bottom: 0px\">Profile: <a href=\"StructureDefinition-genomic-report.html\">Genomic Report</a></p></div><p><b>allele-database</b>: null <span style=\"background: LightGoldenRodYellow; margin: 4px; border: 1px solid khaki\"> (hla[3.23])</span></p><blockquote><p><b>glstring</b></p><blockquote><p><b>url</b></p><code>text</code></blockquote><p><b>value</b>: 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</p><blockquote><p><b>url</b></p><a href=\"http://hl7.org/fhir/R4/datatypes.html#url\">url</a></blockquote><p><b>value</b>: <a href=\"https://gl.nmdp.org/imgt-hla/3.23.0/multilocus-unphased-genotype/ex\">https://gl.nmdp.org/imgt-hla/3.23.0/multilocus-unphased-genotype/ex</a></p></blockquote><p><b>basedOn</b>: <a href=\"#ServiceRequest_CG-IG-HLA-FullBundle-01-5\">See above (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>: Genetics <span style=\"background: LightGoldenRodYellow; margin: 4px; border: 1px solid khaki\"> (<a href=\"http://terminology.hl7.org/5.3.0/CodeSystem-v2-0074.html\">diagnosticServiceSectionId</a>#GE)</span></p><p><b>code</b>: Genetic analysis report <span style=\"background: LightGoldenRodYellow; margin: 4px; border: 1px solid khaki\"> (<a href=\"https://loinc.org/\">LOINC</a>#51969-4; <a href=\"http://terminology.hl7.org/5.3.0/CodeSystem-v3-hgnc.html\">HUGO Gene Nomenclature Committee Genes</a>#HGNC:588 "Histocompatibility complex (HLA)")</span></p><p><b>subject</b>: <a href=\"#Patient_CG-IG-HLA-FullBundle-01-1\">See above (urn:uuid:13f34265-335c-4853-bc38-0815315edafa: John Storm)</a></p><p><b>effective</b>: 2016-12-15</p><p><b>issued</b>: Dec 15, 2016, 8:15:30 PM</p><p><b>performer</b>: <a href=\"#Organization_CG-IG-HLA-FullBundle-01-3\">See above (urn:uuid:9243cc20-27bd-4f87-ba90-0328ed474950: aTypingLab Inc)</a></p><p><b>specimen</b>: <a href=\"#Specimen_CG-IG-HLA-FullBundle-01-2\">See above (urn:uuid:e44fbe33-6084-4ae2-a95e-8bc451c63340: buccal swab from John Storm)</a></p><p><b>result</b>: </p><ul><li><a href=\"#Observation_CG-IG-HLA-FullBundle-01-12\">See above (urn:uuid:49a86246-4004-42eb-9bdc-f542f93f9228: HLA-A: HLA-A:01:01:01G+HLA-A*01:02)</a></li><li><a href=\"#Observation_CG-IG-HLA-FullBundle-01-19\">See above (urn:uuid:60613a43-c4cb-4502-b3e2-cf9215feaa70: HLA-B: HLA-B*15:01:01G+HLA-B*57:01:01G)</a></li><li><a href=\"#Observation_CG-IG-HLA-FullBundle-01-26\">See above (urn:uuid:0e0a780e-4486-4cd0-bfae-7243c579f208: HLA-C: HLA-C*01:02:01G+HLA-C*03:04:01G)</a></li></ul></div>"
},
"extension" : [
{
"url" : "http://hl7.org/fhir/StructureDefinition/hla-genotyping-results-allele-database",
"valueCodeableConcept" : {
"coding" : [
{
"system" : "http://www.ebi.ac.uk/ipd/imgt/hla",
"version" : "3.23"
}
]
}
},
{
"extension" : [
{
"url" : "text",
"valueString" : "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"
},
{
"url" : "url",
"valueUri" : "https://gl.nmdp.org/imgt-hla/3.23.0/multilocus-unphased-genotype/ex"
}
],
"url" : "http://hl7.org/fhir/StructureDefinition/hla-genotyping-results-glstring"
}
],
"basedOn" : [
{
"reference" : "urn:uuid:99309303-045e-4cf4-90d7-250d7a7476ea",
"type" : "ServiceRequest",
"display" : "Class I HLA genotyping for John Storm"
}
],
"status" : "final",
"category" : [
{
"coding" : [
{
"system" : "http://terminology.hl7.org/CodeSystem/v2-0074",
"code" : "GE",
"display" : "Genetics"
}
]
}
],
"code" : {
"coding" : [
{
"system" : "http://loinc.org",
"code" : "51969-4",
"display" : "Genetic analysis report"
},
{
"system" : "http://www.genenames.org",
"code" : "HGNC:588",
"display" : "Histocompatibility complex (HLA)"
}
]
},
"subject" : {
"reference" : "urn:uuid:13f34265-335c-4853-bc38-0815315edafa",
"type" : "Patient",
"display" : "John Storm"
},
"effectiveDateTime" : "2016-12-15",
"issued" : "2016-12-15T14:15:30-06:00",
"performer" : [
{
"reference" : "urn:uuid:9243cc20-27bd-4f87-ba90-0328ed474950",
"type" : "Organization",
"display" : "aTypingLab Inc"
}
],
"specimen" : [
{
"reference" : "urn:uuid:e44fbe33-6084-4ae2-a95e-8bc451c63340",
"display" : "buccal swab from John Storm"
}
],
"result" : [
{
"reference" : "urn:uuid:49a86246-4004-42eb-9bdc-f542f93f9228",
"type" : "Observation",
"display" : "HLA-A: HLA-A:01:01:01G+HLA-A*01:02"
},
{
"reference" : "urn:uuid:60613a43-c4cb-4502-b3e2-cf9215feaa70",
"type" : "Observation",
"display" : "HLA-B: HLA-B*15:01:01G+HLA-B*57:01:01G"
},
{
"reference" : "urn:uuid:0e0a780e-4486-4cd0-bfae-7243c579f208",
"type" : "Observation",
"display" : "HLA-C: HLA-C*01:02:01G+HLA-C*03:04:01G"
}
]
},
"request" : {
"method" : "POST",
"url" : "DiagnosticReport"
}
}
]
}
IG © 2022+ HL7 International / Clinical Genomics. Package hl7.fhir.uv.genomics-reporting#3.0.0-ballot based on FHIR 4.0.1. Generated 2023-12-18
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