[IOPS-3549] CapabilityStatement for DGTS

ActivityDefinition/DGTS-ActivityDefinition-Example.json

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+{
+  "resourceType": "ActivityDefinition",
+  "id": "DGTS-ActivityDefinition-Example",
+  "url": "http://fhir.nhs.uk/ActivityDefinition/GT1",
+  "identifier": [
+    {
+      "system": "http://fhir.nhs.uk/Id/Genomics-DGTS",
+      "value": "GT1"
+    }
+  ],
+  "title": "15q11 critical region (AS/PWS) - MLPA or equivalent",
+  "version": "1.0",
+  "status": "active",
+  "experimental": false,
+  "useContext": [
+    {
+      "code": {
+        "code": "focus"
+      },
+      "valueCodeableConcept": {
+        "coding": [
+          {
+            "code": "diagnostic",
+            "system": "https://fhir.nhs.uk/CodeSystem/reasonfortesting-genomics"
+          }
+        ]
+      }
+    }
+  ],
+  "code": {
+    "coding": [
+      {
+        "code": "targeted-variant-analysis",
+        "system": "http://hl7.org/fhir/genomicstudy-methodtype"
+      }
+    ]
+  },
+  "library": [
+    "http://fhir.nhs.uk/Library/GT1"
+  ],
+  "specimenRequirement": [
+    {
+      "reference": "SpecimenDefinition/DGTS-SpecimenDefinition-Example"
+    }
+  ],
+  "relatedArtifact": [
+    {
+      "type": "composed-of",
+      "url": "https://panelapp.genomicsengland.co.uk/panels/1313",
+      "label": "Carney complex",
+      "display": "GMS Rare Disease"
+    }
+  ]
+}

CapabilityStatement/CapabilityStatement-DGTS-application.json

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+{
+  "resourceType": "CapabilityStatement",
+  "id": "CapabilityStatement-DGTS-application",
+  "url": "https://fhir.nhs.uk/CapabilityStatement/DGTS-application",
+  "version": "0.1.0",
+  "name": "CapabilityStatementDGTSApplication",
+  "status": "draft",
+  "date": "2025-11-26T00:00:00+00:00",
+  "publisher": "NHS England",
+  "description": "Sample server capability for the Digital Genomic Test Services API",
+  "kind": "instance",
+  "implementationGuide":  [
+      "https://simplifier.net/guide/fhir-genomics-implementation-guide"
+  ],
+  "fhirVersion": "4.0.1",
+  "format":  [
+      "application/fhir+json"
+  ],
+  "implementation": {
+    "description": "Exemplar CapabilityStatement for the GMS DGTS FHIR API"
+  },
+  "rest":  [
+    {
+      "mode": "server",
+      "documentation": "RESTful endpoints supported by the DGTS FHIR API",
+      "resource":  [
+        {
+          "type": "PlanDefinition",
+          "profile": "http://hl7.org/fhir/StructureDefinition/PlanDefinition",
+          "documentation": "For searching DGTS Test Packages",
+          "interaction": [
+            {
+              "code": "read"
+            },
+            {
+              "code": "search-type"
+            }
+          ],
+          "searchParam": [
+            {
+              "name": "context",
+              "type": "token"
+            },
+            {
+              "name": "title",
+              "type": "string"
+            },
+            {
+              "name": "url",
+              "type": "uri"
+            },
+            {
+              "name": "version",
+              "type": "token"
+            }
+          ]
+        },
+        {
+          "type": "ActivityDefinition",
+          "profile": "http://hl7.org/fhir/StructureDefinition/ActivityDefinition",
+          "documentation": "For searching DGTS Genomic Test",
+          "interaction": [
+            {
+              "code": "read"
+            },
+            {
+              "code": "search-type"
+            }
+          ],
+          "searchParam": [
+            {
+              "name": "composed-of",
+              "type": "reference"
+            },
+            {
+              "name": "context",
+              "type": "token"
+            },
+            {
+              "name": "identifier",
+              "type": "token"
+            },
+            {
+              "name": "title",
+              "type": "string"
+            },
+            {
+              "name": "status",
+              "type": "token"
+            },
+            {
+              "name": "url",
+              "type": "uri"
+            },
+            {
+              "name": "version",
+              "type": "token"
+            }
+          ],
+          "operation": [
+            {
+              "name": "$data-requirements"
+              "definition": "http://hl7.org/fhir/OperationDefinition/ActivityDefinition-data-requirements"
+            }
+          ]
+        },
+        {
+          "type": "Library",
+          "profile": "http://hl7.org/fhir/StructureDefinition/Library", 
+          "documentation": "Data requirements for DGTS Genomic Tests",
+          "interaction": [
+            {
+              "code": "read"
+            }
+          ]
+        },
+        {
+          "type": "SpecimenDefinition",
+          "profile": "http://hl7.org/fhir/StructureDefinition/SpecimenDefinition", 
+          "documentation": "Specimen requirements for DGTS Genomic Tests",
+          "interaction": [
+            {
+              "code": "read"
+            }
+          ]
+        }
+      ]
+    }
+  ]
+}

Library/DGTS-Library-Example.json

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+{
+	"resourceType": "Library",
+	"id": "DGTS-Library-Example",
+	"url": "http://fhir.nhs.uk/Library/GT1",
+	"type": {
+		"coding": [
+			{
+				"code": "module-definition"
+			}
+		]
+	},
+	"status": "active",
+	"parameter": [
+		{
+			"name": "additional_panels_available",
+			"use": "in",
+			"max": "0"
+			"type": "Coding"
+		},
+		{
+			"name": "target_disease_required",
+			"use": "in",
+			"max": "0",
+			"type": "Coding"
+		},
+		{
+			"name": "target_gene_required",
+			"use": "in",
+			"max": "0",
+			"type": "Coding"
+		},
+		{
+			"name": "target_variant_required",
+			"use": "in",
+			"max": "0",
+			"type": "Coding"
+		}
+	]
+}

PlanDefinition/DGTS-PlanDefinition-Example.json

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+{
+  "resourceType": "PlanDefinition",
+  "id": "DGTS-PlanDefinition-Example",
+  "url": "http://fhir.nhs.uk/PlanDefinition/TP231",
+  "identifier": [
+    {
+      "system": "http://fhir.nhs.uk/Id/Genomics-DGTS-TestPackage",
+      "value": "TP231"
+    }
+  ],
+  "title": "Angelman syndrome",
+  "status": "active",
+  "experimental": false,
+  "version": "1.0",
+  "useContext": [
+    {
+      "code": {
+        "code": "user",
+        "system": "http://terminology.hl7.org/CodeSystem/usage-context-type"
+      },
+      "valueCodeableConcept": {
+        "coding": [
+          {
+            "code": "400",
+            "system": "https://fhir.hl7.org.uk/CodeSystem/UKCore-PracticeSettingCode",
+						"display": "Neurology"
+
+          }
+        ]
+      }
+    },
+		{
+      "code": {
+        "code": "user",
+        "system": "http://terminology.hl7.org/CodeSystem/usage-context-type"
+      },
+      "valueCodeableConcept": {
+        "coding": [
+          {
+            "code": "420",
+            "system": "https://fhir.hl7.org.uk/CodeSystem/UKCore-PracticeSettingCode",
+						"display": "Paediatrics"
+
+          }
+        ]
+      }
+    },
+		{
+      "code": {
+        "code": "user",
+        "system": "http://terminology.hl7.org/CodeSystem/usage-context-type"
+      },
+      "valueCodeableConcept": {
+        "coding": [
+          {
+            "code": "311",
+            "system": "https://fhir.hl7.org.uk/CodeSystem/UKCore-PracticeSettingCode",
+						"display": "Clinical Genetics"
+
+          }
+        ]
+      }
+    },
+		{
+			"code": {
+				"code": "focus",
+				"system": "http://terminology.hl7.org/CodeSystem/usage-context-type"
+			},
+			"valueCodeableConcept": {
+				"coding": [
+					{
+						"code": "diagnostic",
+						"system": "https://fhir.nhs.uk/CodeSystem/reasonfortesting-genomics"
+					}
+				]
+			}
+		}
+  ],
+  "goal": [
+    {
+      "description": {
+        "coding": [
+          {
+            "code": "rare-disease-non-wgs",
+            "system": "https://fhir.hl7.org.uk/CodeSystem/UKCore-GenomeSequencingCategory",
+            "display": "Rare Disease - Non-WGS"
+          }
+        ]
+      }
+    }
+  ],
+  "action": [
+    {
+      "definitionCanonical": "http://fhir.nhs.uk/ActivityDefinition/GT1"
+    },
+		{
+      "definitionCanonical": "http://fhir.nhs.uk/ActivityDefinition/GT36"
+    },
+		{
+      "definitionCanonical": "http://fhir.nhs.uk/ActivityDefinition/GT103"
+    },
+		{
+      "definitionCanonical": "http://fhir.nhs.uk/ActivityDefinition/GT417"
+    },
+		{
+      "definitionCanonical": "http://fhir.nhs.uk/ActivityDefinition/GT732"
+    },
+		{
+      "definitionCanonical": "http://fhir.nhs.uk/ActivityDefinition/GT858"
+    },
+		{
+      "definitionCanonical": "http://fhir.nhs.uk/ActivityDefinition/GT897"
+    },
+		{
+      "definitionCanonical": "http://fhir.nhs.uk/ActivityDefinition/GT1124"
+    }
+  ]
+}

SpecimenDefinition/DGTS-SpecimenDefinition-Example.json

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+{
+	"resourceType": "SpecimenDefinition",
+	"id": "DGTS-SpecimenDefinition-Example",
+	"typeCollected": {
+		"coding": [
+			{
+				"code": "germline",
+				"system": "https://fhir.hl7.org.uk/CodeSystem/UKCore-SampleCategory"
+			}
+		]
+	},
+	"typeTested": [
+		{
+			"type": {
+				"coding": [
+					{
+						"code": "119297000",
+						"system": "http://snomed.info/sct",
+						"display": "Blood specimen"
+					}
+				]
+			},
+			"preference": "preferred",
+			"container": {
+				"additive": [
+					{
+						"additiveCodeableConcept" [
+							{
+								"system": "http://terminology.hl7.org/CodeSystem/v2-0371",
+								"code": "EDTK15",
+								"display": "Potassium/K EDTA 15%"
+							}
+						]
+					}
+				]
+			}
+		}
+	]
+}