NHS North West Genomics
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Questionnaire: North West Genomics Test Order

Official URL: https://fhir.nwgenomics.nhs.uk/Questionnaire/GenomicTestOrder Version: 0.2.1
Draft as of 2026-03-21 Computable Name:

The aim of this is to support conversion of multiple Genomic Order Forms from several NHS Trusts to HL7 v2 and/or FHIR.

References

Domain Archetype

Genomic Laboratory OrderGenomic Laboratory OrderDiagnostic OrderPatient DemographicsIdentificationNHS IdentifierIdentificationMedical Record NumberName, date of birth, post code, etc.Hospital SpellCase identification / Account NumberHospital Provider Spell IdentifierService TypeServiceLaboratory OrderOrder DetailsOrder Identifier (Placer)Filler Order NumberOrder Group NumberOrdering FacilityOrganisation CodeOrdering PractitionerReason CodeGene disease assessedClinical Indication(Order) Procedure CodeGenomic Test CodeTest Directory CodeNotesSpecimenSpecimen IdAccession NumberShipment Tracking numberOrder Entry QuestionsGenomic(Supporting Information)ConsentPregnantConsanguineous union

Genomic Test Order Sections


Diagnostic Order

Patient Demographics

Name LOINC Value Set / Data Type Cardinality HL7 v2 OML_O21 Message HL7 FHIR ServiceRequest HL7 FHIR Resource (Message + RESTful)
NHS Number   NHS Number 0..1 PID ServiceRequest.subject.identifier Patient
Medical Record Number   Medical Record Number 0..1 PID ServiceRequest.subject.identifier Patient

Hospital Spell

Treat as mandatory for reflex or subcontracted orders.

Name LOINC Value Set / Data Type Cardinality HL7 v2 OML_O21 Message HL7 FHIR ServiceRequest HL7 FHIR Resource (Message + RESTful)
Hospital Service   Service 0..1 PV1-10   Encounter.serviceType
Case Identification or Account Number 56797-4 HospitalProviderSpellIdentifier 0..1 PV1-19 ServiceRequest.encounter.identifier Encounter.identifier HospitalSpell

Diagnostic Workflow

Name LOINC Value Set / Data Type Cardinality HL7 v2 OML_O21 Message HL7 FHIR ServiceRequest HL7 FHIR Resource (Message + RESTful)
Order Identifier (Placer)   Order Identifier 1..1 ORC-2 ServiceRequest.identifier[OrderIdentifier]  
Filler Order Number     1..1 ORC-3 ServiceRequest.identifier[OrderFillerNumber]  
(Placer) Order Group Number   Order Group Number 0..1 ORC-4 ServiceRequest.requisition.identifier  
(Order) Procedure Code   Diagnostic Domain specific - See below 1..1 OBR-4 ServiceRequest.code  
Order date     1..1 ORC-9 ServiceRequest.authoredOn  
Ordering Practitioner   England Practitioner Identifier 0..1 ORC-12 ServiceRequest.requester[PractitionerRole] PractitionerRole.practitoner
Ordering Facility   Organisation Code 1..1 ORC-21 If Order has requesting practitioner ServiceRequest.requester[PractitionerRole]
else ServiceRequest.requester[Organization]		 PractitionerRole.organization
else Organization
performer   Organisation Code 0..1 implied by destination of message ServiceRequest.performer Organization
Suspected Condition   Domain specific - See below (Generally SNOMED Condition code) .. DG1-3 ServiceRequest.reasonCode  
Supporting Information   Domain specific - See below 0..* OBX ServiceRequest.supportingInformation Varies
Notes     0..* NTE ServiceRequest.note  
Specimen   See Specimen below 0..* SPM ServiceRequest.specimen.identifier Specimen

Diagnostic Genomics

Name LOINC Value Set / Data Type Cardinality HL7 v2 OML_O21 Message HL7 FHIR ServiceRequest HL7 FHIR Resource (Message + RESTful)
(Order) Procedure Code - Genomic Test Code   ​Genomic Test Directory 1..1 OBR-4 ServiceRequest.code  
Suspected Condition - Clinical Indication / CITT code   ​Genomic Condition Codes .. DG1-3 ServiceRequest.reasonCode  

Specimen

Diagnostic

Name LOINC Value Set / Data Type Cardinality HL7 v2 OML_O21 Message HL7 FHIR ServiceRequest HL7 FHIR Resource (Message + RESTful)
Specimen ID 80398-1   0..* SPM specimen Specimen.identifier[PlacerSpecimenNumber]
Specimen Accession Number 80398-1 Specimen Accession Number 0..* SPM specimen Specimen.accessionIdentifier
Shipment Tracking Number 97209-1 Shipment Tracking Number       Specimen.identifier[ShipmentTrackingNumber]

Note: it is likely that source systems will use ORM_01 and not include specimen details. In this case it is suggested that the specimen details are captured as 'Ask at Order Entry Questions' and so provided as OBX segments.

Order Entry Questions

Diagnostic Genomics

See also Domain Archetype and Panels for technical notes on how form questions are converted into HL7 v2/FHIR.

Name Code System Answer ValueSet Cardinality HL7 v2 OML_O21 Message OBX-2 Value Type HL7 FHIR Resource (Message + RESTful)
Patient is from consanguineous union? SNOMED 842009 YesNoUnknown 0..1 OBX CE Observation.valueCodeableConcept
Confirm that a pathology report will be provided alongside the sample. SNOMED 74996004 YesNoUnknown 0..1 OBX CE Observation.valueCodeableConcept
Neonatal/Prenatal/Neither? SNOMED 118185001 Pregnancy 0..1 OBX CE Observation.valueCodeableConcept
Pregnant            
- Does this test relate to a pregnancy with > 1 fetus? SNOMED 370386005 YesNoUnknown 0..1 OBX CE Observation.valueCodeableConcept
- Patient expected delivery date SNOMED 161714006   0..1 OBX DT Observation.valueDateTime
- Patient gestation SNOMED 598151000005105   0..1 OBX NM Observation.valueQuantity
Is this test for a pregnancy loss? SNOMED 17369002 YesNoUnknown 0..1 OBX CE Observation.valueCodeableConcept
Is this test for a deceased infant? SNOMED 419099009 YesNoUnknown 0..1 OBX CE Observation.valueCodeableConcept

Profile: Questionnaire

Structure
LinkIDTextCardinalityTypeDescription & Constraintsdoco
.. The aim of this is to support conversion of multiple Genomic Order Forms from several NHS Trusts to HL7 v2 and/or FHIR.Questionnairehttps://fhir.nwgenomics.nhs.uk/Questionnaire/GenomicTestOrder#0.2.1
... PatientPatient0..1groupDefinition: Patient
Value Set:
.... LN/45394-4Patient surname1..1string​Definition: Patient.name.family
Value Set:
.... LN/45392-8Patient first name1..1string​Definition: Patient.name.given
Value Set:
.... LN/21112-8Date of birth1..1dateDefinition: Patient.birthDate
Value Set:
.... LN/81954-0Date of death0..1date​Definition: Patient.deceasedDateTime
Value Set:
.... LN/56799-0Address0..1groupDefinition: Patient.address
Value Set:
..... HL7/PID-11-1Address Line0..*string​Definition: Patient.address.line
Value Set:
..... HL7/PID-11-3City0..1string​Definition: Patient.address.city
Value Set:
..... LN/45401-7Postcode0..1stringDefinition: Patient.address.postalCode
Value Set:
.... LN/46098-0Sex registered at birth0..1choiceDefinition: Patient.gender
Value Set: AdministrativeGender
.... LN/32624-9Ethnic Category0..1choice​Definition: Patient.extension:ethnicCategory
Value Set: Ethnicity
.... LN/89061-6NHS Number0..1string​Definition: Patient.identifier:nhsNumber
Value Set:
.... LN/76435-7Hospital Number (Medical Record Number)1..1string​Definition: Patient.identifier:MedicalRecordNumber
Value Set:
.... LN/56797-4Account Number (Episode or Stay Number)0..1string​Definition: ServiceRequest.encounter.identifier.value
Value Set:
..... LN/56797-4-designNotePV1-19 (also known as stay number)0..1displayValue Set:
.... ageAtCollectionAge at collection (ignore for FHIR)0..1decimalValue Set:
.... LN/89009-5Location0..1stringDefinition: Encounter.location
Value Set:
.... HL7/PD1-3GP Surgery (ODS Code)0..1choice​Definition: Patient.generalPractitioner
Value Set:
... HealthcareProfessionalHealthcare Professional0..1groupDefinition: PractitionerRole
Value Set:
.... LN/18705-4Referring Clinician Name1..1stringDefinition: PractitionerRole.practitioner.display
Value Set:
.... LN/18707-0Referring Clinician Current Speciality1..1choice​Definition: PractitionerRole.specialty.coding.code
Value Set: UK Core Practice Setting Code
.... LN/46608-6Referring Clinician Professional Identifier1..1stringDefinition: PractitionerRole.practitioner.identifier.value
Value Set:
.... LN/89058-2Email0..*stringDefinition: PractitionerRole.telecom.value
Value Set:
.... LN/81230-5Phone0..1stringDefinition: PractitionerRole.telecom.value
Value Set:
.... HL7/ORC-21Referring Organisation ODS Code / Ordering Facility0..1string​Definition: PractitionerRole.organization.identifier.value
Value Set:
... TestRequestTest Request0..1groupDefinition: ServiceRequest
Value Set:
.... SNM/15220000Test Category0..1choiceDefinition: ServiceRequest.category
Value Set: Order Category
.... HL7/OBR-4-rTest Code (Rare and inherited diseases)1..*choiceDefinition: ServiceRequest.code
Enable When: SNM/15220000 =
Value Set: Genomic Rare and Inherited Disease Test Directory
.... HL7/OBR-4-hTest Code (Haemoglobinopathy)1..*choiceDefinition: ServiceRequest.code
Enable When: SNM/15220000 =
Value Set:
Options: 5 options
.... HL7/OBR-4-cTest Code (Cancer)1..*choiceDefinition: ServiceRequest.code
Enable When: SNM/15220000 =
Value Set: Genomic Cancer Test Directory
.... pedigreeNumberG Number (Pedigree Number) - Order Group Number0..1string​Definition: Patient.identifier:PedigreeNumber
Value Set:
.... LN/106194-4Test request ID/Order ID0..1string​Definition: ServiceRequest.identifier:OrderIdentifier
Value Set:
.... LN/82768-3Priority0..1choiceDefinition: ServiceRequest.priority
Value Set: Request Priority
.... NOS/GeneticistEmailClinical Geneticist email0..1string​Definition: Observation.valueString
Value Set:
.... NOS/GeneticistDepartmentEmailClinical Geneticist department email0..1string​Definition: Observation.valueString
Value Set:
.... ConsentConsent0..1groupValue Set:
..... LN/19826-7Has consent has been obtained for tests (Y/N)0..1choice​Definition: Observation.valueCodeableConcept
Value Set:
Options: 2 options
..... LN/75520-7Has consent has been obtained for DNA storage (Y/N)0..1choice​Definition: Observation.valueCodeableConcept
Value Set:
Options: 2 options
..... NOS/RODToFollowROD attached or to follow0..1choice​Definition: Observation.valueCodeableConcept
Value Set:
Options: 3 options
.... PatientClinicalInformationPatient Clinical Information0..1groupValue Set:
..... LN/51967-8CITT code (Specific disease suspected/reason for testing)0..*choiceDefinition: ServiceRequest.reasonCode
Value Set: Genomic Clinical Indication Codes
..... HL7/NTE-1Relevant clinical information and family history0..1string​Definition: ServiceRequest.note
Value Set:
..... HL7/NTE-2Reason For Variant Re-Interpretation Request0..1string​Definition: ServiceRequest.note
Value Set:
... SpecimenSpecimen/Biopsy0..1groupDefinition: Specimen
Value Set:
.... HL7/SPMSample collection status0..1choice​Definition: Specimen.status
Value Set: SpecimenStatus
.... LN/80398-1Specimen ID Number0..1stringDefinition: Specimen.identifier
Value Set:
..... LN/80398-1-designNoteORM v2.4 - OBX-3 = LOINC 80398-1 and OBX-2 = CE. OML v2.5.1 SPM-20..1displayValue Set:
.... Specimen/accessionIdentifierLab DNA Number (If Known)0..1stringDefinition: Specimen.accessionIdentifier
Value Set:
.... LN/80398-1-ODSPathology Laboratory Hospital/Trust ID (for Path Lab Sample/Stored DNA)0..1string​Definition: Specimen.accessionIdentifier.assigner.identifier.value
Value Set:
.... LN/33882-2Specimen Collection Date0..1dateTime​Definition: Specimen.collection.collectedDateTime
Value Set:
..... LN/33882-2-designNoteORM v2.4 - OBX-3 = LOINC 33882-2 and OBX-2 = TS . OML v2.5.1 SPM-170..1displayValue Set:
.... LN/66746-9Specimen Type0..1choice​Definition: Specimen.type.coding.code
Value Set: Specimen Type
..... LN/66746-9-designNoteORM v2.4 - OBX-3 = LOINC 66746-9 and OBX-2 = CE. OML v2.5.1 SPM-40..1displayValue Set:
.... SNM/281269004High Infection Risk?0..1choice​Definition: Observation.valueCodeableConcept
Value Set:
Options: 2 options
.... NOS/InfectionRiskDetailsHigh infection Risk Details0..1string​Definition: Observation.valueString
Value Set:
.... LN/74384-9Anticoagulant/preservative?0..1choice​Definition: Observation.valueCodeableConcept
Value Set:
Options: 2 options
.... LN/39111-0Tissue source/organ of origin0..1choiceDefinition: Specimen.collection.bodySite
Value Set:
.... LN/3169-0Specimen Volume/number of slides or scrolls0..1stringDefinition: Specimen.collection.quantity
Value Set:
.... OrderTrackingAudit (Specimen Tracking)0..1groupDefinition: Specimen.collection
Value Set:
..... NOS/SampleReceivedDate and time sample received in lab0..1date​Definition: Specimen.receivedTime
Value Set:
..... NOS/SampleSentDate and time sample sent0..1date​Definition: Observation.valueDateTime
Value Set:
..... NOS/TransportUsedTransport used0..1string​Definition: Observation.valueString
Value Set:
..... LN/97209-1Tracking number0..1string​Definition: Specimen.identifier[ShipmentTrackingNumber]
Value Set:
..... NOS/SampleSentToSample sent to0..1string​Definition: Observation.valueString
Value Set:
..... NOS/SampleSentToNameName of person who sent sample0..1string​Definition: Observation.valueString
Value Set:
... AskAtOrderEntryAsk At Order Entry Questions0..1groupValue Set:
.... SNM/842009Patient is from consanguineous union?0..1choice​Definition: Observation.valueCodeableConcept
Value Set:
Options: 3 options
.... SNM/74996004-pathology-reportConfirm that a pathology report will be provided alongside the sample.0..1choice​Definition: Observation.valueCodeableConcept
Value Set:
Options: 3 options
.... SNM/118185001Neonatal/Prenatal/Neither?0..1choice​Definition: Observation.valueCodeableConcept
Value Set:
Options: 3 options
..... pregnantPregnant0..1groupEnable When: SNM/118185001 =
Value Set:
...... SNM/370386005Does this test relate to a pregnancy with > 1 fetus?0..1string​Definition: Observation.valueCodeableConcept
Value Set:
Options: 3 options
...... SNM/161714006Patient expected delivery date0..1date​Definition: Observation.valueDateTime
Value Set:
...... SNM/598151000005105Patient gestation0..1integer​Definition: Observation.valueQuantity
Value Set:
.... SNM/17369002Is this test for a pregnancy loss?0..1choice​Definition: Observation.valueCodeableConcept
Value Set:
Options: 3 options
.... SNM/419099009Is this test for a deceased infant?0..1choice​Definition: Observation.valueCodeableConcept
Value Set:
Options: 3 options
... PriorResultsPrior Results0..1groupValue Set:

doco Documentation for this format

Options Sets

Answer options for HL7/OBR-4-h

  • https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory#R361.1 ("Sickle cell, thalassaemia and other haemoglobinopathies trait or carrier testing")
  • https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory#R361.2 ("Sickle cell, thalassaemia and other haemoglobinopathies trait or carrier testing")
  • https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory#R372.1 ("Newborn screening for sickle cell disease in a transfused baby")
  • https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory#R93.1 ("Sickle cell, thalassaemia and other haemoglobinopathies")
  • https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory#R93.2 ("Sickle cell, thalassaemia and other haemoglobinopathies")

Answer options for LN/19826-7

  • http://loinc.org#LA33-6 ("Yes")
  • http://loinc.org#LA32-8 ("No")

Answer options for LN/75520-7

  • http://loinc.org#LA33-6 ("Yes")
  • http://loinc.org#LA32-8 ("No")

Answer options for NOS/RODToFollow

  • http://loinc.org#LA33-6 ("Yes")
  • http://loinc.org#LA32-8 ("No")
  • http://loinc.org#LA4489-6 ("Unknown")

Answer options for SNM/281269004

  • http://loinc.org#LA33-6 ("Yes")
  • http://loinc.org#LA32-8 ("No")

Answer options for LN/74384-9

  • http://loinc.org#LA33-6 ("Yes")
  • http://loinc.org#LA32-8 ("No")

Answer options for SNM/842009

  • http://loinc.org#LA33-6 ("Yes")
  • http://loinc.org#LA32-8 ("No")
  • http://loinc.org#LA4489-6 ("Unknown")

Answer options for SNM/74996004-pathology-report

  • http://loinc.org#LA33-6 ("Yes")
  • http://loinc.org#LA32-8 ("No")
  • http://loinc.org#LA4489-6 ("Unknown")

Answer options for SNM/118185001

  • http://snomed.info/sct#77386006 ("Pregnancy")
  • http://snomed.info/sct#255407002 ("Neonatal")
  • http://loinc.org#LA32-8 ("No")

Answer options for SNM/370386005

  • http://loinc.org#LA33-6 ("Yes")
  • http://loinc.org#LA32-8 ("No")
  • http://loinc.org#LA4489-6 ("Unknown")

Answer options for SNM/17369002

  • http://loinc.org#LA33-6 ("Yes")
  • http://loinc.org#LA32-8 ("No")
  • http://loinc.org#LA4489-6 ("Unknown")

Answer options for SNM/419099009

  • http://loinc.org#LA33-6 ("Yes")
  • http://loinc.org#LA32-8 ("No")
  • http://loinc.org#LA4489-6 ("Unknown")

Notes:

Communication Information Model

Laboratory Order O21 Supporting Information Patient Administration Care Directory Services PatientNHSIdentifierMedicalRecordNumber «aggregate»ServiceRequest (Test Request)orderPlacerNumberorderFillerNumberorderPlacerGroupNumberaccessionNumbersubject : Patient Specimen (Primary Sample)identifieraccessionNumbersubject : Patient ConditionCode PractitionerRoleorganisation : ODSCodepractitioner: GMP/GMC Numberspecialty: ClinicalSpecialty ServieRequest.identifierOriginal Order Episode Number Observationvalue[x]codesubject : Patient Observation Panelhasmembercodesubject : Patient «aggregate»DocumentReferencePreviousReportsGenomicFamilyStructuretypesubject : Patientcontext.encounter :Visit Number AttachmentcontentTypeurl Binary Encounteridentifier :Episode Numberencounterepisodesubject : Patient PatientNHSIdentifierMedicalRecordNumbernameaddressbirthDategendertelecom PractitionerprofessionalCodenametelecom OrganizationodsCodenametelecom url hasmember0 specimen /accessionNumber0 subject1 encounter0 reason(Reference/Code)0 basedOn0 supportingInfo0 supportingInfo0 supportingInfo0 requester1 collection.collector0 participant.individual0 subject1 subject1 subject1 subject1 context.encounter1 encounter1

Genomics Test Request Model


Communication Model

Placer Order Management [LAB-1]