Genomics Reporting Implementation Guide
2.0.0 - trial-use
Genomics Reporting Implementation Guide
2.0.0 - trial-use
This page is part of the Genetic Reporting Implementation Guide (v2.0.0: STU 2) based on FHIR R4. This is the current published version in its permanent home (it will always be available at this URL). For a full list of available versions, see the Directory of published versions 
Bundle bundle-CG-IG-HLA-FullBundle-01 of type transaction
Entry 1 - Full URL = urn:uuid:13f34265-335c-4853-bc38-0815315edafa
Request:
POST Patient
Resource Patient:
John Storm(OFFICIAL) Male, DoB: 1986-12-31 ( Donor Registration Number: 12345 (USUAL))
Entry 2 - Full URL = urn:uuid:e44fbe33-6084-4ae2-a95e-8bc451c63340
Request:
POST Specimen
Resource Specimen:
Generated Narrative
Resource "CG-IG-HLA-FullBundle-01-2"
identifier: id: 123
accessionIdentifier: id: 456
type: Venous blood specimen (SNOMED CT#122555007)
subject: urn:uuid:13f34265-335c-4853-bc38-0815315edafa: John Storm
Entry 3 - Full URL = urn:uuid:9243cc20-27bd-4f87-ba90-0328ed474950
Request:
POST Organization
Resource Organization:
Generated Narrative
Resource "CG-IG-HLA-FullBundle-01-3"
name: aTypingLab Inc
alias: aTL
telecom: ph: 1-800-555-1234(WORK)
address: 123 Main St, Sometown, ND 99999(WORK)
Entry 4 - Full URL = urn:uuid:00ef18ad-ed04-4b2c-81ee-b69bb243f0d5
Request:
POST Organization
Resource Organization:
Generated Narrative
Resource "CG-IG-HLA-FullBundle-01-4"
name: aDonorRegistry
alias: ADR
telecom: ph: 1-800-555-6789(WORK)
address: 456 Main St, Anytown ND, 00000(WORK)
Entry 5 - Full URL = urn:uuid:99309303-045e-4cf4-90d7-250d7a7476ea
Request:
POST ServiceRequest
Resource ServiceRequest:
Generated Narrative
Resource "CG-IG-HLA-FullBundle-01-5"
status: COMPLETED
intent: ORDER
code: HLA-A+B+C (class I) [Type] (LOINC#13303-3)
subject: urn:uuid:13f34265-335c-4853-bc38-0815315edafa: John Storm
authoredOn: 2016-11-15
requester: urn:uuid:00ef18ad-ed04-4b2c-81ee-b69bb243f0d5: aDonorRegistry
performer: urn:uuid:9243cc20-27bd-4f87-ba90-0328ed474950: aTypingLab, Inc
Entry 6 - Full URL = urn:uuid:8200dab6-18a2-4550-b913-a7db480c0804
Request:
POST MolecularSequence
Resource MolecularSequence:
Generated Narrative
Resource "CG-IG-HLA-FullBundle-01-6"
type: DNA
coordinateSystem: 0
ReferenceSeqs
- ReferenceSeqId WindowStart WindowEnd * HLA-A*01:01:01:01 (hla[3.23]#HLA00001) 503 773 observedSeq: GCTCCCACTCCATGAGGTATTTCTTCACATCCGTGTCCCGGCCCGGCCGCGGGGAGCCCCGCTTCATCGCCGTGGGCTACGTGGACGACACGCAGTTCGTGCGGTTCGACAGCGACGCCGCGAGCCAGAAGATGGAGCCGCGGGCGCCGTGGATAGAGCAGGAGGGGCCGGAGTATTGGGACCAGGAGACACGGAATATGAAGGCCCACTCACAGACTGACCGAGCGAACCTGGGGACCCTGCGCGGCTACTACAACCAGAGCGAGGACG
Entry 7 - Full URL = urn:uuid:7c393185-f15c-45bc-a714-c0fdbea32675
Request:
POST MolecularSequence
Resource MolecularSequence:
Generated Narrative
Resource "CG-IG-HLA-FullBundle-01-7"
type: DNA
coordinateSystem: 0
ReferenceSeqs
- ReferenceSeqId WindowStart WindowEnd * HLA-A*01:01:01:01 (hla[3.23]#HLA00001) 1014 1290 observedSeq: GTTCTCACACCATCCAGATAATGTATGGCTGCGACGTGGGGCCGGACGGGCGCTTCCTCCGCGGGTACCGGCAGGACGCCTACGACGGCAAGGATTACATCGCCCTGAACGAGGACCTGCGCTCTTGGACCGCGGCGGACATGGCAGCTCAGATCACCAAGCGCAAGTGGGAGGCGGTCCATGCGGCGGAGCAGCGGAGAGTCTACCTGGAGGGCCGGTGCGTGGACGGGCTCCGCAGATACCTGGAGAACGGGAAGGAGACGCTGCAGCGCACGG
Entry 8 - Full URL = urn:uuid:65c85f14-c3a0-4b72-818f-820e04fcc621
Request:
POST MolecularSequence
Resource MolecularSequence:
Generated Narrative
Resource "CG-IG-HLA-FullBundle-01-8"
type: DNA
coordinateSystem: 0
ReferenceSeqs
- ReferenceSeqId WindowStart WindowEnd * HLA-A*01:02 (hla[3.23]#HLA00002) 503 773 observedSeq: GCTCCCACTCCATGAGGTATTTCTCCACATCCGTGTCCCGGCCCGGCAGTGGAGAGCCCCGCTTCATCGCAGTGGGCTACGTGGACGACACGCAGTTCGTGCGGTTCGACAGCGACGCCGCGAGCCAGAAGATGGAGCCGCGGGCGCCGTGGATAGAGCAGGAGGGGCCGGAGTATTGGGACCAGGAGACACGGAATATGAAGGCCCACTCACAGACTGACCGAGCGAACCTGGGGACCCTGCGCGGCTACTACAACCAGAGCGAGGACG
Entry 9 - Full URL = urn:uuid:fbba9fe7-0ece-4ec1-9233-a437a8d242a0
Request:
POST MolecularSequence
Resource MolecularSequence:
Generated Narrative
Resource "CG-IG-HLA-FullBundle-01-9"
type: DNA
coordinateSystem: 0
ReferenceSeqs
- ReferenceSeqId WindowStart WindowEnd * HLA-A*01:02 (hla[3.23]#HLA00002) 1014 1290 observedSeq: GTTCTCACACCATCCAGATAATGTATGGCTGCGACGTGGGGCCGGACGGGCGCTTCCTCCGCGGGTACCGGCAGGACGCCTACGACGGCAAGGATTACATCGCCCTGAACGAGGACCTGCGCTCTTGGACCGCGGCGGACATGGCAGCTCAGATCACCAAGCGCAAGTGGGAGGCGGTCCATGCGGCGGAGCAGCGGAGAGTCTACCTGGAGGGCCGGTGCGTGGACGGGCTCCGCAGATACCTGGAGAACGGGAAGGAGACGCTGCAGCGCACGG
Entry 10 - Full URL = urn:uuid:b7765bbf-df40-486a-9f2f-404309643de6
Request:
POST Observation
Resource Observation:
Generated Narrative
Resource "CG-IG-HLA-FullBundle-01-10"
Profile: Haplotype
status: FINAL
category: Laboratory (Observation Category Codes#laboratory)
code: Haplotype name (LOINC#84414-2)
subject: urn:uuid:13f34265-335c-4853-bc38-0815315edafa: John Storm
effective: 2016-12-15
value: HLA-A*01:01:01G (hla[3.23]#HLA-A*01:01:01G)
method: NGS based Class I HLA-A, -B, -C genotyping (gtr#GTR000000000.0)
specimen: urn:uuid:e44fbe33-6084-4ae2-a95e-8bc451c63340: buccal swab from John Storm
derivedFrom:
- urn:uuid:8200dab6-18a2-4550-b913-a7db480c0804: HLA-A*01:01:01:01, exon 2
- urn:uuid:7c393185-f15c-45bc-a714-c0fdbea32675: HLA-A*01:01:01:01, exon 3
Components
- Code Value[x] * Gene studied [ID] (LOINC#48018-6) HLA-A (geneId#HGNC:4931)
Entry 11 - Full URL = urn:uuid:d98d92a7-0e86-4ae5-b036-b7e1bba6ec32
Request:
POST Observation
Resource Observation:
Generated Narrative
Resource "CG-IG-HLA-FullBundle-01-11"
Profile: Haplotype
status: FINAL
category: Laboratory (Observation Category Codes#laboratory)
code: Haplotype name (LOINC#84414-2)
subject: urn:uuid:13f34265-335c-4853-bc38-0815315edafa: John Storm
effective: 2016-12-15
value: HLA-A*01:02 (hla[3.23]#HLA-A*01:02)
method: NGS based Class I HLA-A, -B, -C genotyping (gtr#GTR000000000.0)
specimen: urn:uuid:e44fbe33-6084-4ae2-a95e-8bc451c63340: buccal swab from John Storm
derivedFrom:
- urn:uuid:65c85f14-c3a0-4b72-818f-820e04fcc621: HLA-A*01:02, exon 2
- urn:uuid:fbba9fe7-0ece-4ec1-9233-a437a8d242a0: HLA-A*01:02, exon 3
Components
- Code Value[x] * Gene studied [ID] (LOINC#48018-6) HLA-A (geneId#HGNC:4931)
Entry 12 - Full URL = urn:uuid:49a86246-4004-42eb-9bdc-f542f93f9228
Request:
POST Observation
Resource Observation:
Generated Narrative
Resource "CG-IG-HLA-FullBundle-01-12"
Profile: Genotype
basedOn: urn:uuid:99309303-045e-4cf4-90d7-250d7a7476ea: Class I HLA genotyping for John Storm
status: FINAL
category: Laboratory (Observation Category Codes#laboratory)
code: Genotype display name (LOINC#84413-4)
subject: urn:uuid:13f34265-335c-4853-bc38-0815315edafa: John Storm
effective: 2016-12-15
value: hla#3.23.0#HLA-A:01:01G+HLA-A*01:02 (glstring.org[1.0]#hla#3.23.0#HLA-A:01:01G+HLA-A*01:02)
method: NGS based Class I HLA-A, -B, -C genotyping (gtr#GTR000000000.0)
specimen: urn:uuid:e44fbe33-6084-4ae2-a95e-8bc451c63340: buccal swab from John Storm
derivedFrom:
- urn:uuid:b7765bbf-df40-486a-9f2f-404309643de6: HLA-A*01:01:01G, exons 2 and 3
- urn:uuid:d98d92a7-0e86-4ae5-b036-b7e1bba6ec32: HLA-A*01:02, exons 2 and 3
Components
- Code Value[x] * Gene studied [ID] (LOINC#48018-6) HLA-A (geneId#HGNC:4931)
Entry 13 - Full URL = urn:uuid:cbabf93e-1b4b-46f2-ba1e-d84862670670
Request:
POST MolecularSequence
Resource MolecularSequence:
Generated Narrative
Resource "CG-IG-HLA-FullBundle-01-13"
type: DNA
coordinateSystem: 0
ReferenceSeqs
- ReferenceSeqId WindowStart WindowEnd * HLA-B*15:01:01:01 (hla[3.23]#HLA00162) 486 756 observedSeq: GCTCCCACTCCATGAGGTATTTCTACACCGCCATGTCCCGGCCCGGCCGCGGGGAGCCCCGCTTCATCGCAGTGGGCTACGTGGACGACACCCAGTTCGTGAGGTTCGACAGCGACGCCGCGAGTCCGAGGATGGCGCCCCGGGCGCCATGGATAGAGCAGGAGGGGCCGGAGTATTGGGACCGGGAGACACAGATCTCCAAGACCAACACACAGACTTACCGAGAGAGCCTGCGGAACCTGCGCGGCTACTACAACCAGAGCGAGGCCG
Entry 14 - Full URL = urn:uuid:c233ad3d-1572-48d6-93da-0a583535e138
Request:
POST MolecularSequence
Resource MolecularSequence:
Generated Narrative
Resource "CG-IG-HLA-FullBundle-01-14"
type: DNA
coordinateSystem: 0
ReferenceSeqs
- ReferenceSeqId WindowStart WindowEnd * HLA-B*15:01:01:01 (hla[3.23]#HLA00162) 1001 1277 observedSeq: GGTCTCACACCCTCCAGAGGATGTACGGCTGCGACGTGGGGCCGGACGGGCGCCTCCTCCGCGGGCATGACCAGTCCGCCTACGACGGCAAGGATTACATCGCCCTGAACGAGGACCTGAGCTCCTGGACCGCGGCGGACACGGCGGCTCAGATCACCCAGCGCAAGTGGGAGGCGGCCCGTGAGGCGGAGCAGTGGAGAGCCTACCTGGAGGGCCTGTGCGTGGAGTGGCTCCGCAGATACCTGGAGAACGGGAAGGAGACGCTGCAGCGCGCGG
Entry 15 - Full URL = urn:uuid:05fa52d7-5c67-460a-8722-d3460b24d6fe
Request:
POST MolecularSequence
Resource MolecularSequence:
Generated Narrative
Resource "CG-IG-HLA-FullBundle-01-15"
type: DNA
coordinateSystem: 0
ReferenceSeqs
- ReferenceSeqId WindowStart WindowEnd * HLA-B*57:01:01 (hla[3.23]#HLA00381) 485 755 observedSeq: GCTCCCACTCCATGAGGTATTTCTACACCGCCATGTCCCGGCCCGGCCGCGGGGAGCCCCGCTTCATCGCAGTGGGCTACGTGGACGACACCCAGTTCGTGAGGTTCGACAGCGACGCCGCGAGTCCGAGGATGGCGCCCCGGGCGCCATGGATAGAGCAGGAGGGGCCGGAGTATTGGGACGGGGAGACACGGAACATGAAGGCCTCCGCGCAGACTTACCGAGAGAACCTGCGGATCGCGCTCCGCTACTACAACCAGAGCGAGGCCG
Entry 16 - Full URL = urn:uuid:db69e549-6267-4777-b4b9-8813f3329309
Request:
POST MolecularSequence
Resource MolecularSequence:
Generated Narrative
Resource "CG-IG-HLA-FullBundle-01-16"
type: DNA
coordinateSystem: 0
ReferenceSeqs
- ReferenceSeqId WindowStart WindowEnd * HLA-B*57:01:01 (hla[3.23]#HLA00381) 1001 1277 observedSeq: GGTCTCACATCATCCAGGTGATGTATGGCTGCGACGTGGGGCCGGACGGGCGCCTCCTCCGCGGGCATGACCAGTCCGCCTACGACGGCAAGGATTACATCGCCCTGAACGAGGACCTGAGCTCCTGGACCGCGGCGGACACGGCGGCTCAGATCACCCAGCGCAAGTGGGAGGCGGCCCGTGTGGCGGAGCAGCTGAGAGCCTACCTGGAGGGCCTGTGCGTGGAGTGGCTCCGCAGATACCTGGAGAACGGGAAGGAGACGCTGCAGCGCGCGG
Entry 17 - Full URL = urn:uuid:e2092243-2970-49d2-a90f-b90d1d49715a
Request:
POST Observation
Resource Observation:
Generated Narrative
Resource "CG-IG-HLA-FullBundle-01-17"
Profile: Haplotype
status: FINAL
category: Laboratory (Observation Category Codes#laboratory)
code: Haplotype name (LOINC#84414-2)
subject: urn:uuid:13f34265-335c-4853-bc38-0815315edafa: John Storm
effective: 2016-12-15
value: HLA-B*15:01:01G (hla[3.23]#HGG00041)
method: NGS based Class I HLA-A, -B, -C genotyping (gtr#GTR000000000.0)
specimen: urn:uuid:e44fbe33-6084-4ae2-a95e-8bc451c63340: buccal swab from John Storm
derivedFrom:
- urn:uuid:cbabf93e-1b4b-46f2-ba1e-d84862670670: HLA-B*15:01:01:01, exon 2
- urn:uuid:c233ad3d-1572-48d6-93da-0a583535e138: HLA-B*15:01:01:01, exon 3
Components
- Code Value[x] * Gene studied [ID] (LOINC#48018-6) HLA-B (geneId#HGNC:4932)
Entry 18 - Full URL = urn:uuid:792be53e-d4fb-4887-a367-815ef6c706e5
Request:
POST Observation
Resource Observation:
Generated Narrative
Resource "CG-IG-HLA-FullBundle-01-18"
Profile: Haplotype
status: FINAL
category: Laboratory (Observation Category Codes#laboratory)
code: Haplotype name (LOINC#84414-2)
subject: urn:uuid:13f34265-335c-4853-bc38-0815315edafa: John Storm
effective: 2016-12-15
value: HLA-B*57:01:01G (hla[3.23]#HLA-B*57:01:01G)
method: NGS based Class I HLA-A, -B, -C genotyping (gtr#GTR000000000.0)
specimen: urn:uuid:e44fbe33-6084-4ae2-a95e-8bc451c63340: buccal swab from John Storm
derivedFrom:
- urn:uuid:05fa52d7-5c67-460a-8722-d3460b24d6fe: HLA-B*57:01:01, exon 2
- urn:uuid:db69e549-6267-4777-b4b9-8813f3329309: HLA-B*57:01:01, exon 3
Components
- Code Value[x] * Gene studied [ID] (LOINC#48018-6) HLA-B (geneId#HGNC:4932)
Entry 19 - Full URL = urn:uuid:60613a43-c4cb-4502-b3e2-cf9215feaa70
Request:
POST Observation
Resource Observation:
Generated Narrative
Resource "CG-IG-HLA-FullBundle-01-19"
Profile: Genotype
basedOn: urn:uuid:99309303-045e-4cf4-90d7-250d7a7476ea: Class I HLA genotyping for John Storm
status: FINAL
category: Laboratory (Observation Category Codes#laboratory)
code: Genotype display name (LOINC#84413-4)
subject: urn:uuid:13f34265-335c-4853-bc38-0815315edafa: John Storm
effective: 2016-12-15
value: hla#3.23.0#HLA-B*15:01:01G+HLA-B*57:01:01G (glstring.org[1.0]#hla#3.23.0#HLA-B*15:01:01G+HLA-B*57:01:01G)
method: NGS based Class I HLA-A, -B, -C genotyping (gtr#GTR000000000.0)
specimen: urn:uuid:e44fbe33-6084-4ae2-a95e-8bc451c63340: buccal swab from John Storm
derivedFrom:
- urn:uuid:e2092243-2970-49d2-a90f-b90d1d49715a: HLA-B*15:01:01G, exons 2 and 3
- urn:uuid:792be53e-d4fb-4887-a367-815ef6c706e5: HLA-B*57:01:01G, exons 2 and 3
Components
- Code Value[x] * Gene studied [ID] (LOINC#48018-6) HLA-B (geneId#HGNC:4932)
Entry 20 - Full URL = urn:uuid:bb55c2bc-5ad2-4bc1-8ff3-c407d06b12d0
Request:
POST MolecularSequence
Resource MolecularSequence:
Generated Narrative
Resource "CG-IG-HLA-FullBundle-01-20"
type: DNA
coordinateSystem: 0
ReferenceSeqs
- ReferenceSeqId WindowStart WindowEnd * HLA-C*01:02:01 (hla[3.23]#HLA00401) 486 756 observedSeq: GCTCCCACTCCATGAAGTATTTCTTCACATCCGTGTCCCGGCCTGGCCGCGGAGAGCCCCGCTTCATCTCAGTGGGCTACGTGGACGACACGCAGTTCGTGCGGTTCGACAGCGACGCCGCGAGTCCGAGAGGGGAGCCGCGGGCGCCGTGGGTGGAGCAGGAGGGGCCGGAGTATTGGGACCGGGAGACACAGAAGTACAAGCGCCAGGCACAGACTGACCGAGTGAGCCTGCGGAACCTGCGCGGCTACTACAACCAGAGCGAGGCCG
Entry 21 - Full URL = urn:uuid:46938bb2-0486-4e87-bfd3-89aab2d5e22f
Request:
POST MolecularSequence
Resource MolecularSequence:
Generated Narrative
Resource "CG-IG-HLA-FullBundle-01-21"
type: DNA
coordinateSystem: 0
ReferenceSeqs
- ReferenceSeqId WindowStart WindowEnd * HLA-C*01:02:01 (hla[3.23]#HLA00401) 1002 1278 observedSeq: GGTCTCACACCCTCCAGTGGATGTGTGGCTGCGACCTGGGGCCCGACGGGCGCCTCCTCCGCGGGTATGACCAGTACGCCTACGACGGCAAGGATTACATCGCCCTGAACGAGGACCTGCGCTCCTGGACCGCCGCGGACACCGCGGCTCAGATCACCCAGCGCAAGTGGGAGGCGGCCCGTGAGGCGGAGCAGCGGAGAGCCTACCTGGAGGGCACGTGCGTGGAGTGGCTCCGCAGATACCTGGAGAACGGGAAGGAGACGCTGCAGCGCGCGG
Entry 22 - Full URL = urn:uuid:2ae2ff34-279e-43c2-9018-b054fd3fc1ce
Request:
POST MolecularSequence
Resource MolecularSequence:
Generated Narrative
Resource "CG-IG-HLA-FullBundle-01-22"
type: DNA
coordinateSystem: 0
ReferenceSeqs
- ReferenceSeqId WindowStart WindowEnd * HLA-C*03:04:01:01 (hla[3.23]#HLA00413) 486 756 observedSeq: GCTCCCACTCCATGAGGTATTTCTACACCGCTGTGTCCCGGCCCGGCCGCGGGGAGCCCCACTTCATCGCAGTGGGCTACGTGGACGACACGCAGTTCGTGCGGTTCGACAGCGACGCCGCGAGTCCGAGAGGGGAGCCGCGGGCGCCGTGGGTGGAGCAGGAGGGGCCGGAGTATTGGGACCGGGAGACACAGAAGTACAAGCGCCAGGCACAGACTGACCGAGTGAGCCTGCGGAACCTGCGCGGCTACTACAACCAGAGCGAGGCCG
Entry 23 - Full URL = urn:uuid:19153ef1-68c6-47a2-9676-c4eefbd39af9
Request:
POST MolecularSequence
Resource MolecularSequence:
Generated Narrative
Resource "CG-IG-HLA-FullBundle-01-23"
type: DNA
coordinateSystem: 0
ReferenceSeqs
- ReferenceSeqId WindowStart WindowEnd * HLA-C*03:04:01:01 (hla[3.23]#HLA00413) 1001 1277 observedSeq: GGTCTCACATCATCCAGAGGATGTATGGCTGCGACGTGGGGCCCGACGGGCGCCTCCTCCGCGGGTATGACCAGTACGCCTACGACGGCAAGGATTACATCGCCCTGAACGAGGATCTGCGCTCCTGGACCGCCGCGGACACGGCGGCTCAGATCACCCAGCGCAAGTGGGAGGCGGCCCGTGAGGCGGAGCAGCTGAGAGCCTACCTGGAGGGCCTGTGCGTGGAGTGGCTCCGCAGATACCTGAAGAATGGGAAGGAGACGCTGCAGCGCGCGG
Entry 24 - Full URL = urn:uuid:709c5315-9403-4867-9d82-0b953836665f
Request:
POST Observation
Resource Observation:
Generated Narrative
Resource "CG-IG-HLA-FullBundle-01-24"
Profile: Haplotype
status: FINAL
category: Laboratory (Observation Category Codes#laboratory)
code: Haplotype name (LOINC#84414-2)
subject: urn:uuid:13f34265-335c-4853-bc38-0815315edafa: John Storm
effective: 2016-12-15
value: HLA-C*01:02:01G (hla[3.23]#HLA-C*01:02:01G)
method: NGS based Class I HLA-A, -B, -C genotyping (gtr#GTR000000000.0)
specimen: urn:uuid:e44fbe33-6084-4ae2-a95e-8bc451c63340: buccal swab from John Storm
derivedFrom:
- urn:uuid:bb55c2bc-5ad2-4bc1-8ff3-c407d06b12d0: HLA-C*01:02:01, exon 2
- urn:uuid:46938bb2-0486-4e87-bfd3-89aab2d5e22f: HLA-C*01:02:01, exon 3
Components
- Code Value[x] * Gene studied [ID] (LOINC#48018-6) HLA-C (geneId#HGNC:4933)
Entry 25 - Full URL = urn:uuid:8b2aa21c-1426-4717-8ab0-a84d83df7d47
Request:
POST Observation
Resource Observation:
Generated Narrative
Resource "CG-IG-HLA-FullBundle-01-25"
Profile: Haplotype
status: FINAL
category: Laboratory (Observation Category Codes#laboratory)
code: Haplotype name (LOINC#84414-2)
subject: urn:uuid:13f34265-335c-4853-bc38-0815315edafa: John Storm
effective: 2016-12-15
value: HLA-C*01:02:01G (hla[3.23]#HLA-C*01:02:01G)
method: NGS based Class I HLA-A, -B, -C genotyping (gtr#GTR000000000.0)
specimen: urn:uuid:e44fbe33-6084-4ae2-a95e-8bc451c63340: buccal swab from John Storm
derivedFrom:
- urn:uuid:2ae2ff34-279e-43c2-9018-b054fd3fc1ce: HLA-C*03:04:01:01, exon 2
- urn:uuid:19153ef1-68c6-47a2-9676-c4eefbd39af9: HLA-C*03:04:01:01, exon 3
Components
- Code Value[x] * Gene studied [ID] (LOINC#48018-6) HLA-C (geneId#HGNC:4933)
Entry 26 - Full URL = urn:uuid:0e0a780e-4486-4cd0-bfae-7243c579f208
Request:
POST Observation
Resource Observation:
Generated Narrative
Resource "CG-IG-HLA-FullBundle-01-26"
Profile: Genotype
basedOn: urn:uuid:99309303-045e-4cf4-90d7-250d7a7476ea: Class I HLA genotyping for John Storm
status: FINAL
category: Laboratory (Observation Category Codes#laboratory)
code: Genotype display name (LOINC#84413-4)
subject: urn:uuid:13f34265-335c-4853-bc38-0815315edafa: John Storm
effective: 2016-12-15
value: hla#3.23.0#HLA-C*01:02:01G+HLA-C*03:04:01G (glstring.org[1.0]#hla#3.23.0#HLA-C*01:02:01G+HLA-C*03:04:01G)
method: NGS based Class I HLA-A, -B, -C genotyping (gtr#GTR000000000.0)
specimen: urn:uuid:e44fbe33-6084-4ae2-a95e-8bc451c63340: buccal swab from John Storm
derivedFrom:
- urn:uuid:8b2aa21c-1426-4717-8ab0-a84d83df7d47: HLA-C*03:04:01G, exons 2 and 3
- urn:uuid:709c5315-9403-4867-9d82-0b953836665f: HLA-C*01:02:01G, exons 2 and 3
Components
- Code Value[x] * Gene studied [ID] (LOINC#48018-6) HLA-C (geneId#HGNC:4933)
Entry 27 - Full URL = urn:uuid:b0a4b18e-94e7-4b1b-8031-c7ae4bdd8db9
Request:
POST DiagnosticReport
Resource DiagnosticReport:
Master HL7 genetic variant reporting panel (Genetics)
Subject Not done yet When For 2016-12-15 Reported 2016-12-15 02:15:30-0600 Report Details
Code Value
IG © 2022+ HL7 Clinical Genomics Working Group. Package hl7.fhir.uv.genomics-reporting#2.0.0 based on FHIR 4.0.1. Generated 2022-05-09
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