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KazeemHamzatKazeemHamzat
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DGTS Bundle
DGTS Bundle
1 parent e138f55 commit 5b288a0

11 files changed

Lines changed: 764 additions & 5 deletions

‎ActivityDefinition/ActivityDefinition-DGTS-HypotonicinfantWGS-Example.json‎

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{
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"resourceType": "ActivityDefinition",
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"id": "ActivityDefinition-DGTS-HypotonicinfantWGS-Example",
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"url": "https://fhir.nhs.uk/ActivityDefinition/GT46",
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"identifier": [
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{
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"system": "https://fhir.nhs.uk/Id/England-DigitalGenomicTestServices",
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"value": "GT46"
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},
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{
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"system": "https://fhir.nhs.uk/Id/England-GenomicTestDirectory",
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"value": "R69.5",
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"use": "old"
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}
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],
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"status": "active",
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"title": "Hypotonic infant - WGS",
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"code": {
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"coding": [
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{
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"system": "https://fhir.nhs.uk/CodeSystem/DGTS-genomictest-method-type",
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"code": "whole-genome-sequencing"
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}
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]
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},
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"useContext": [
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{
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"code": {
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"code": "focus"
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},
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"valueCodeableConcept": {
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"coding": [
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{
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"system": "https://fhir.nhs.uk/CodeSystem/rare-diseaseTesting-genomics",
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"code": "diagnostic"
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}
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]
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}
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}
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],
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"library": [
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"https://fhir.nhs.uk/Library/GT46"
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],
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"specimenRequirement": [
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{
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"reference": "SpecimenDefinition/DGTS-SpecimenDefinition-Example"
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}
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],
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"relatedArtifact": [
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{
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"type": "composed-of",
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"url": "https://nhsgms-panelapp.genomicsengland.co.uk/panels/490/v46.1",
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"display": "Hypotonic infant"
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}
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]
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}

‎ActivityDefinition/ActivityDefinition-DGTS-Reanalysising-existingdata-Example.json‎

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{
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"resourceType": "ActivityDefinition",
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"id": "ActivityDefinition-DGTS-Reanalysising-existingdata-Example",
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"url": "https://fhir.nhs.uk/ActivityDefinition/GT192",
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"identifier": [
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{
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"system": "https://fhir.nhs.uk/Id/England-DigitalGenomicTestServices",
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"value": "GT192"
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},
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{
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"system": "https://fhir.nhs.uk/Id/England-GenomicTestDirectory",
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"value": "R387.1",
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"use": "old"
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}
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],
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"title": "Reanalysis of existing data",
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"name": "GT192_ActivityDefinition",
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"version": "1.0",
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"status": "active",
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"experimental": false,
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"useContext": [
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{
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"code": {
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"code": "focus"
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},
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"valueCodeableConcept": {
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"coding": [
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{
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"system": "https://fhir.nhs.uk/CodeSystem/rare-diseaseTesting-genomics",
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"code": "diagnostic",
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"display": "Diagnostic"
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}
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]
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}
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}
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],
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"code": {
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"coding": [
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{
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"system": "https://fhir.nhs.uk/CodeSystem/DGTS-genomictest-method-type",
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"code": "sequencing"
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}
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]
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},
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"library": [
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"https://fhir.nhs.uk/Library/DGTS-targetdisease-gene-variant-required"
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],
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"specimenRequirement": [
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{
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"reference": "SpecimenDefinition/DGTS-SpecimenDefinition-Example"
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}
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]
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}

‎ActivityDefinition/ActivityDefinition-DGTS-Targetedvariant-Example.json‎

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{
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"resourceType": "ActivityDefinition",
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"id": "ActivityDefinition-DGTS-Targetedvariant-Example",
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"url": "https://fhir.nhs.uk/ActivityDefinition/GT36",
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"identifier": [
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{
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"system": "https://fhir.nhs.uk/Id/England-DigitalGenomicTestServices",
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"value": "GT36"
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},
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{
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"system": "https://fhir.nhs.uk/Id/England-GenomicTestDirectory",
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"value": "R242.1",
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"use": "old"
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}
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],
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"status": "active",
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"title": "Predictive testing for known variant(s) - Targeted variant testing",
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"code": {
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"coding": [
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{
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"system": "https://fhir.nhs.uk/CodeSystem/DGTS-genomictest-method-type",
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"code": "targeted-assays"
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}
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]
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},
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"useContext": [
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{
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"code": { "code": "focus" },
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"valueCodeableConcept": {
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"coding": [
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{
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"system": "https://fhir.nhs.uk/CodeSystem/rare-diseaseTesting-genomics",
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"code": "predictive"
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}
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]
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}
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}
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],
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"library": [
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"https://fhir.nhs.uk/Library/DGTS-targetdisease-gene-variant-required"
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],
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"specimenRequirement": [
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{
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"reference": "SpecimenDefinition/DGTS-SpecimenDefinition-Example"
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}
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]
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}

‎ActivityDefinition/ActivityDefinition-DGTS-family-follow-up-testing-Example.json‎

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{
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"resourceType": "ActivityDefinition",
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"id": "ActivityDefinition-DGTS-family-follow-up-testing-Example",
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"url": "https://fhir.nhs.uk/ActivityDefinition/GT103",
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"status": "active",
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"identifier": [
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{
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"system": "https://fhir.nhs.uk/Id/England-DigitalGenomicTestServices",
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"value": "GT103"
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},
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{
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"system": "https://fhir.nhs.uk/Id/England-GenomicTestDirectory",
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"value": "R375.1",
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"use": "old"
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}
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],
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"title": "Family follow-up testing to aid variant interpretation - Targeted variant testing",
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"code": {
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"coding": [
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{
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"system": "https://fhir.nhs.uk/CodeSystem/DGTS-genomictest-method-type",
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"code": "targeted-assays"
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}
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]
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},
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"useContext": [
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{
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"code": {
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"code": "focus"
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},
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"valueCodeableConcept": {
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"coding": [
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{
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"system": "https://fhir.nhs.uk/CodeSystem/rare-diseaseTesting-genomics",
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"code": "family-member-to-aid-interpretation"
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}
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]
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}
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}
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],
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"library": [
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"https://fhir.nhs.uk/Library/DGTS-targetdisease-gene-variant-required"
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],
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"specimenRequirement": [
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{
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"reference": "SpecimenDefinition/DGTS-SpecimenDefinition-Example"
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}
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]
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}

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