Genomics Reporting Implementation Guide
3.0.1-SNAPSHOT - Ballot International flag

Genomics Reporting Implementation Guide, published by HL7 International / Clinical Genomics. This guide is not an authorized publication; it is the continuous build for version 3.0.1-SNAPSHOT built by the FHIR (HL7® FHIR® Standard) CI Build. This version is based on the current content of https://github.com/HL7/genomics-reporting/ and changes regularly. See the Directory of published versions

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Resource Observation:

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Resource Observation:

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Resource Observation:

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Resource Observation:

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Resource Observation:

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POST Observation

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Resource Observation:

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Resource Observation:

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POST Observation

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Resource Observation:

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POST Observation

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Resource Observation:

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POST Observation

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Resource Observation:

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POST Observation

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Resource Observation:

Generated Narrative: Observation dv-5c7e9e1ca70a2

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POST Observation

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Resource Observation:

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POST Observation

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Resource Observation:

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Request:

POST Observation

Entry 31 - fullUrl = urn:uuid:19ac0aeb-6bd4-4e92-a891-d44a807bfe31

Resource Observation:

Generated Narrative: Observation dv-5c7e9e1ca724a

status: Final

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Request:

POST Observation

Entry 32 - fullUrl = urn:uuid:19ac0aeb-6bd4-4e92-a891-d44a807bfe32

Resource Observation:

Generated Narrative: Observation dv-5c7e9e1ca72e4

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Request:

POST Observation

Entry 33 - fullUrl = urn:uuid:19ac0aeb-6bd4-4e92-a891-d44a807bfe33

Resource Observation:

Generated Narrative: Observation dv-5c7e9e1ca7377

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Request:

POST Observation

Entry 34 - fullUrl = urn:uuid:19ac0aeb-6bd4-4e92-a891-d44a807bfe34

Resource Observation:

Generated Narrative: Observation dv-5c7e9e1ca740a

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Request:

POST Observation

Entry 35 - fullUrl = urn:uuid:19ac0aeb-6bd4-4e92-a891-d44a807bfe35

Resource Observation:

Generated Narrative: Observation dv-5c7e9e1ca7497

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code: Genetic variant assessment

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Request:

POST Observation

Entry 36 - fullUrl = urn:uuid:19ac0aeb-6bd4-4e92-a891-d44a807bfe36

Resource Observation:

Generated Narrative: Observation dv-5c7e9e1ca7513

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Request:

POST Observation

Entry 37 - fullUrl = urn:uuid:19ac0aeb-6bd4-4e92-a891-d44a807bfe37

Resource Observation:

Generated Narrative: Observation dv-5c7e9e1ca758e

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code: Genetic variant assessment

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Request:

POST Observation

Entry 38 - fullUrl = urn:uuid:19ac0aeb-6bd4-4e92-a891-d44a807bfe38

Resource Observation:

Generated Narrative: Observation dv-5c7e9e1ca7609

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Request:

POST Observation

Entry 39 - fullUrl = urn:uuid:19ac0aeb-6bd4-4e92-a891-d44a807bfe39

Resource Observation:

Generated Narrative: Observation dv-5c7e9e1ca7684

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code: Genetic variant assessment

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Request:

POST Observation

Entry 40 - fullUrl = urn:uuid:19ac0aeb-6bd4-4e92-a891-d44a807bfe40

Resource Observation:

Generated Narrative: Observation dv-5c7e9e1ca76ff

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Request:

POST Observation

Entry 41 - fullUrl = urn:uuid:19ac0aeb-6bd4-4e92-a891-d44a807bfe41

Resource Observation:

Generated Narrative: Observation dv-5c7e9e1ca7779

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category: Laboratory, Genetics

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Request:

POST Observation

Entry 42 - fullUrl = urn:uuid:19ac0aeb-6bd4-4e92-a891-d44a807bfe42

Resource Observation:

Generated Narrative: Observation dv-5c7e9e1ca77f4

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category: Laboratory, Genetics

code: Genetic variant assessment

subject: Bundle: type = transaction

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Request:

POST Observation

Entry 43 - fullUrl = urn:uuid:19ac0aeb-6bd4-4e92-a891-d44a807bfe43

Resource Observation:

Generated Narrative: Observation dv-5c7e9e1ca786f

status: Final

category: Laboratory, Genetics

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Request:

POST Observation

Entry 44 - fullUrl = urn:uuid:19ac0aeb-6bd4-4e92-a891-d44a807bfe44

Resource Observation:

Generated Narrative: Observation dv-5c7e9e1ca78eb

status: Final

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code: Genetic variant assessment

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Request:

POST Observation

Entry 45 - fullUrl = urn:uuid:19ac0aeb-6bd4-4e92-a891-d44a807bfe45

Resource Observation:

Generated Narrative: Observation dv-5c7e9e1ca7967

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category: Laboratory, Genetics

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Request:

POST Observation

Entry 46 - fullUrl = urn:uuid:19ac0aeb-6bd4-4e92-a891-d44a807bfe46

Resource Observation:

Generated Narrative: Observation dv-5c7e9e1ca79ef

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category: Laboratory, Genetics

code: Genetic variant assessment

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Request:

POST Observation

Entry 47 - fullUrl = urn:uuid:19ac0aeb-6bd4-4e92-a891-d44a807bfe47

Resource Observation:

Generated Narrative: Observation dv-5c7e9e1ca7a79

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Request:

POST Observation

Entry 48 - fullUrl = urn:uuid:19ac0aeb-6bd4-4e92-a891-d44a807bfe48

Resource Observation:

Generated Narrative: Observation dv-5c7e9e1ca7afb

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category: Laboratory, Genetics

code: Genetic variant assessment

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Request:

POST Observation

Entry 49 - fullUrl = urn:uuid:19ac0aeb-6bd4-4e92-a891-d44a807bfe49

Resource Observation:

Generated Narrative: Observation dv-5c7e9e1ca7bcb

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code: Genetic variant assessment

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Request:

POST Observation

Entry 50 - fullUrl = urn:uuid:19ac0aeb-6bd4-4e92-a891-d44a807bfe50

Resource Observation:

Generated Narrative: Observation dv-5c7e9e1ca7c49

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code: Genetic variant assessment

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Request:

POST Observation

Entry 51 - fullUrl = urn:uuid:19ac0aeb-6bd4-4e92-a891-d44a807bfe51

Resource Observation:

Generated Narrative: Observation dv-5c7e9e1ca7cd3

status: Final

category: Laboratory, Genetics

code: Genetic variant assessment

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Request:

POST Observation

Entry 52 - fullUrl = urn:uuid:19ac0aeb-6bd4-4e92-a891-d44a807bfe52

Resource Observation:

Generated Narrative: Observation dv-5c7e9e1ca7d94

status: Final

category: Laboratory, Genetics

code: Genetic variant assessment

subject: Bundle: type = transaction

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Request:

POST Observation

Entry 53 - fullUrl = urn:uuid:19ac0aeb-6bd4-4e92-a891-d44a807bfe53

Resource Observation:

Generated Narrative: Observation dv-5c7e9e1ca7e45

status: Final

category: Laboratory, Genetics

code: Genetic variant assessment

subject: Bundle: type = transaction

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Request:

POST Observation

Entry 54 - fullUrl = urn:uuid:19ac0aeb-6bd4-4e92-a891-d44a807bfe54

Resource Observation:

Generated Narrative: Observation dv-5c7e9e1ca7ed6

status: Final

category: Laboratory, Genetics

code: Genetic variant assessment

subject: Bundle: type = transaction

effective: 2019-03-05

issued: 2019-03-05 16:04:44+0000

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Request:

POST Observation

Entry 55 - fullUrl = urn:uuid:19ac0aeb-6bd4-4e92-a891-d44a807bfe55

Resource Observation:

Generated Narrative: Observation dv-5c7e9e1ca7f69

status: Final

category: Laboratory, Genetics

code: Genetic variant assessment

subject: Bundle: type = transaction

effective: 2019-03-05

issued: 2019-03-05 16:04:44+0000

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Request:

POST Observation

Entry 56 - fullUrl = urn:uuid:19ac0aeb-6bd4-4e92-a891-d44a807bfe56

Resource Observation:

Generated Narrative: Observation dv-5c7e9e1ca7ffd

status: Final

category: Laboratory, Genetics

code: Genetic variant assessment

subject: Bundle: type = transaction

effective: 2019-03-05

issued: 2019-03-05 16:04:44+0000

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Request:

POST Observation

Entry 57 - fullUrl = urn:uuid:19ac0aeb-6bd4-4e92-a891-d44a807bfe57

Resource Observation:

Generated Narrative: Observation dv-5c7e9e1ca8085

status: Final

category: Laboratory, Genetics

code: Genetic variant assessment

subject: Bundle: type = transaction

effective: 2019-03-05

issued: 2019-03-05 16:04:44+0000

performer: Bundle: type = transaction

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Request:

POST Observation

Entry 58 - fullUrl = urn:uuid:19ac0aeb-6bd4-4e92-a891-d44a807bfe58

Resource Observation:

Generated Narrative: Observation dv-5c7e9e1ca811f

status: Final

category: Laboratory, Genetics

code: Genetic variant assessment

subject: Bundle: type = transaction

effective: 2019-03-05

issued: 2019-03-05 16:04:44+0000

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Request:

POST Observation

Entry 59 - fullUrl = urn:uuid:19ac0aeb-6bd4-4e92-a891-d44a807bfe59

Resource Observation:

Generated Narrative: Observation dv-5c7e9e1ca81b9

status: Final

category: Laboratory, Genetics

code: Genetic variant assessment

subject: Bundle: type = transaction

effective: 2019-03-05

issued: 2019-03-05 16:04:44+0000

performer: Bundle: type = transaction

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Request:

POST Observation

Entry 60 - fullUrl = urn:uuid:19ac0aeb-6bd4-4e92-a891-d44a807bfe60

Resource Observation:

Generated Narrative: Observation dv-5c7e9e1ca8252

status: Final

category: Laboratory, Genetics

code: Genetic variant assessment

subject: Bundle: type = transaction

effective: 2019-03-05

issued: 2019-03-05 16:04:44+0000

performer: Bundle: type = transaction

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code: Genomic coord system

value: 1-based character counting

component

code: Genomic allele start-end

value: 96527334-?

Request:

POST Observation

Entry 61 - fullUrl = urn:uuid:20ac0aeb-6bd4-4e92-a891-d44a807bfe01

Resource Observation:

Generated Narrative: Observation dv-5c7e9e1ca82e4

status: Final

category: Laboratory, Genetics

code: Genetic variant assessment

subject: Bundle: type = transaction

effective: 2019-03-05

issued: 2019-03-05 16:04:44+0000

performer: Bundle: type = transaction

value: Present

component

code: Human reference sequence assembly version

value: GRCh37

component

code: Genomic reference sequence ID

value: NC_000010.10

component

code: Allelic state

value: heterozygous

component

code: Ref nucleotide

value: C

component

code: Alt allele

value: G

component

code: Genomic coord system

value: 1-based character counting

component

code: Genomic allele start-end

value: 96527722-?

Request:

POST Observation

Entry 62 - fullUrl = urn:uuid:19ac0aeb-6bd4-4e92-a891-d44a807bfe62

Resource Observation:

Generated Narrative: Observation dv-5c7e9e1ca837c

status: Final

category: Laboratory, Genetics

code: Genetic variant assessment

subject: Bundle: type = transaction

effective: 2019-03-05

issued: 2019-03-05 16:04:44+0000

performer: Bundle: type = transaction

value: Present

component

code: Human reference sequence assembly version

value: GRCh37

component

code: Genomic reference sequence ID

value: NC_000010.10

component

code: Allelic state

value: homozygous

component

code: Ref nucleotide

value: A

component

code: Alt allele

value: G

component

code: Genomic coord system

value: 1-based character counting

component

code: Genomic allele start-end

value: 96529912-?

Request:

POST Observation

Entry 63 - fullUrl = urn:uuid:19ac0aeb-6bd4-4e92-a891-d44a807bfe63

Resource Observation:

Generated Narrative: Observation dv-5c7e9e1ca8410

status: Final

category: Laboratory, Genetics

code: Genetic variant assessment

subject: Bundle: type = transaction

effective: 2019-03-05

issued: 2019-03-05 16:04:44+0000

performer: Bundle: type = transaction

value: Present

component

code: Human reference sequence assembly version

value: GRCh37

component

code: Genomic reference sequence ID

value: NC_000010.10

component

code: Allelic state

value: heterozygous

component

code: Ref nucleotide

value: A

component

code: Alt allele

value: G

component

code: Genomic coord system

value: 1-based character counting

component

code: Genomic allele start-end

value: 96530504-?

Request:

POST Observation

Entry 64 - fullUrl = urn:uuid:19ac0aeb-6bd4-4e92-a891-d44a807bfe64

Resource Observation:

Generated Narrative: Observation dv-5c7e9e1ca8493

status: Final

category: Laboratory, Genetics

code: Genetic variant assessment

subject: Bundle: type = transaction

effective: 2019-03-05

issued: 2019-03-05 16:04:44+0000

performer: Bundle: type = transaction

value: Present

component

code: Human reference sequence assembly version

value: GRCh37

component

code: Genomic reference sequence ID

value: NC_000010.10

component

code: Allelic state

value: heterozygous

component

code: Ref nucleotide

value: T

component

code: Alt allele

value: C

component

code: Genomic coord system

value: 1-based character counting

component

code: Genomic allele start-end

value: 96532327-?

Request:

POST Observation

Entry 65 - fullUrl = urn:uuid:19ac0aeb-6bd4-4e92-a891-d44a807bfe65

Resource Observation:

Generated Narrative: Observation dv-5c7e9e1ca8514

status: Final

category: Laboratory, Genetics

code: Genetic variant assessment

subject: Bundle: type = transaction

effective: 2019-03-05

issued: 2019-03-05 16:04:44+0000

performer: Bundle: type = transaction

value: Present

component

code: Human reference sequence assembly version

value: GRCh37

component

code: Genomic reference sequence ID

value: NC_000010.10

component

code: Allelic state

value: heterozygous

component

code: Ref nucleotide

value: G

component

code: Alt allele

value: T

component

code: Genomic coord system

value: 1-based character counting

component

code: Genomic allele start-end

value: 96532545-?

Request:

POST Observation

Entry 66 - fullUrl = urn:uuid:19ac0aeb-6bd4-4e92-a891-d44a807bfe66

Resource Observation:

Generated Narrative: Observation dv-5c7e9e1ca8596

status: Final

category: Laboratory, Genetics

code: Genetic variant assessment

subject: Bundle: type = transaction

effective: 2019-03-05

issued: 2019-03-05 16:04:44+0000

performer: Bundle: type = transaction

value: Present

component

code: Human reference sequence assembly version

value: GRCh37

component

code: Genomic reference sequence ID

value: NC_000010.10

component

code: Allelic state

value: heterozygous

component

code: Ref nucleotide

value: G

component

code: Alt allele

value: A

component

code: Genomic coord system

value: 1-based character counting

component

code: Genomic allele start-end

value: 96532688-?

Request:

POST Observation

Entry 67 - fullUrl = urn:uuid:19ac0aeb-6bd4-4e92-a891-d44a807bfe67

Resource Observation:

Generated Narrative: Observation dv-5c7e9e1ca8618

status: Final

category: Laboratory, Genetics

code: Genetic variant assessment

subject: Bundle: type = transaction

effective: 2019-03-05

issued: 2019-03-05 16:04:44+0000

performer: Bundle: type = transaction

value: Present

component

code: Human reference sequence assembly version

value: GRCh37

component

code: Genomic reference sequence ID

value: NC_000010.10

component

code: Allelic state

value: heterozygous

component

code: Ref nucleotide

value: A

component

code: Alt allele

value: T

component

code: Genomic coord system

value: 1-based character counting

component

code: Genomic allele start-end

value: 96533050-?

Request:

POST Observation

Entry 68 - fullUrl = urn:uuid:19ac0aeb-6bd4-4e92-a891-d44a807bfe68

Resource Observation:

Generated Narrative: Observation dv-5c7e9e1ca869c

status: Final

category: Laboratory, Genetics

code: Genetic variant assessment

subject: Bundle: type = transaction

effective: 2019-03-05

issued: 2019-03-05 16:04:44+0000

performer: Bundle: type = transaction

value: Present

component

code: Human reference sequence assembly version

value: GRCh37

component

code: Genomic reference sequence ID

value: NC_000010.10

component

code: Allelic state

value: heterozygous

component

code: Ref nucleotide

value: G

component

code: Alt allele

value: A

component

code: Genomic coord system

value: 1-based character counting

component

code: Genomic allele start-end

value: 96534584-?

Request:

POST Observation

Entry 69 - fullUrl = urn:uuid:19ac0aeb-6bd4-4e92-a891-d44a807bfe69

Resource Observation:

Generated Narrative: Observation dv-5c7e9e1ca871e

status: Final

category: Laboratory, Genetics

code: Genetic variant assessment

subject: Bundle: type = transaction

effective: 2019-03-05

issued: 2019-03-05 16:04:44+0000

performer: Bundle: type = transaction

value: Present

component

code: Human reference sequence assembly version

value: GRCh37

component

code: Genomic reference sequence ID

value: NC_000010.10

component

code: Allelic state

value: heterozygous

component

code: Ref nucleotide

value: T

component

code: Alt allele

value: C

component

code: Genomic coord system

value: 1-based character counting

component

code: Genomic allele start-end

value: 96535689-?

Request:

POST Observation

Entry 70 - fullUrl = urn:uuid:19ac0aeb-6bd4-4e92-a891-d44a807bfe70

Resource Observation:

Generated Narrative: Observation dv-5c7e9e1ca879f

status: Final

category: Laboratory, Genetics

code: Genetic variant assessment

subject: Bundle: type = transaction

effective: 2019-03-05

issued: 2019-03-05 16:04:44+0000

performer: Bundle: type = transaction

value: Present

component

code: Human reference sequence assembly version

value: GRCh37

component

code: Genomic reference sequence ID

value: NC_000010.10

component

code: Allelic state

value: heterozygous

component

code: Ref nucleotide

value: A

component

code: Alt allele

value: G

component

code: Genomic coord system

value: 1-based character counting

component

code: Genomic allele start-end

value: 96535743-?

Request:

POST Observation

Entry 71 - fullUrl = urn:uuid:19ac0aeb-6bd4-4e92-a891-d44a807bfe71

Resource Observation:

Generated Narrative: Observation dv-5c7e9e1ca8820

status: Final

category: Laboratory, Genetics

code: Genetic variant assessment

subject: Bundle: type = transaction

effective: 2019-03-05

issued: 2019-03-05 16:04:44+0000

performer: Bundle: type = transaction

value: Present

component

code: Human reference sequence assembly version

value: GRCh37

component

code: Genomic reference sequence ID

value: NC_000010.10

component

code: Allelic state

value: heterozygous

component

code: Ref nucleotide

value: ATTC

component

code: Alt allele

value: TATT

component

code: Genomic coord system

value: 1-based character counting

component

code: Genomic allele start-end

value: 96536045-?

Request:

POST Observation

Entry 72 - fullUrl = urn:uuid:19ac0aeb-6bd4-4e92-a891-d44a807bfe72

Resource Observation:

Generated Narrative: Observation dv-5c7e9e1ca88a5

status: Final

category: Laboratory, Genetics

code: Genetic variant assessment

subject: Bundle: type = transaction

effective: 2019-03-05

issued: 2019-03-05 16:04:44+0000

performer: Bundle: type = transaction

value: Present

component

code: Human reference sequence assembly version

value: GRCh37

component

code: Genomic reference sequence ID

value: NC_000010.10

component

code: Allelic state

value: heterozygous

component

code: Ref nucleotide

value: T

component

code: Alt allele

value: A

component

code: Genomic coord system

value: 1-based character counting

component

code: Genomic allele start-end

value: 96536455-?

Request:

POST Observation

Entry 73 - fullUrl = urn:uuid:19ac0aeb-6bd4-4e92-a891-d44a807bfe73

Resource Observation:

Generated Narrative: Observation dv-5c7e9e1ca8927

status: Final

category: Laboratory, Genetics

code: Genetic variant assessment

subject: Bundle: type = transaction

effective: 2019-03-05

issued: 2019-03-05 16:04:44+0000

performer: Bundle: type = transaction

value: Present

component

code: Human reference sequence assembly version

value: GRCh37

component

code: Genomic reference sequence ID

value: NC_000010.10

component

code: Allelic state

value: heterozygous

component

code: Ref nucleotide

value: C

component

code: Alt allele

value: T

component

code: Genomic coord system

value: 1-based character counting

component

code: Genomic allele start-end

value: 96536708-?

Request:

POST Observation

Entry 74 - fullUrl = urn:uuid:19ac0aeb-6bd4-4e92-a891-d44a807bfe74

Resource Observation:

Generated Narrative: Observation dv-5c7e9e1ca89a8

status: Final

category: Laboratory, Genetics

code: Genetic variant assessment

subject: Bundle: type = transaction

effective: 2019-03-05

issued: 2019-03-05 16:04:44+0000

performer: Bundle: type = transaction

value: Present

component

code: Human reference sequence assembly version

value: GRCh37

component

code: Genomic reference sequence ID

value: NC_000010.10

component

code: Allelic state

value: heterozygous

component

code: Ref nucleotide

value: C

component

code: Alt allele

value: T

component

code: Genomic coord system

value: 1-based character counting

component

code: Genomic allele start-end

value: 96537137-?

Request:

POST Observation

Entry 75 - fullUrl = urn:uuid:19ac0aeb-6bd4-4e92-a891-d44a807bfe75

Resource Observation:

Generated Narrative: Observation sid-5c7e9e1ca8a29

status: Final

category: Laboratory, Genetics

code: Allelic phase

subject: Bundle: type = transaction

effective: 2019-03-05

issued: 2019-03-05 16:04:44+0000

performer: Bundle: type = transaction

value: Cis

derivedFrom:

Request:

POST Observation

Entry 76 - fullUrl = urn:uuid:19ac0aeb-6bd4-4e92-a891-d44a807bfeaa

Resource DiagnosticReport:

Generated Narrative: DiagnosticReport report-CYP2C19

Genetic analysis report (Genetics)

Report Details

CodeValue

Request:

POST DiagnosticReport

Entry 77 - fullUrl = urn:uuid:19ac0aeb-6bd4-4e92-a891-d44a807bfeab

Resource Organization:

Generated Narrative: Organization performingLab

name: aTypingLab Inc

alias: aTL

Contacts

-TelecomAddress
*ph: 1-800-555-1234(Work)123 Main St, Sometown, ND 99999(work)

Request:

POST Organization

Entry 78 - fullUrl = urn:uuid:19ac0aeb-6bd4-4e92-a891-d44a807bfeac

Resource Patient:

Generated Narrative: Patient patient

John Storm(official) Male, DoB: 1986-12-31

Request:

POST Patient