NHS North West Genomics
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Questionnaire: North West Genomics Test Order

Official URL: https://fhir.nwgenomics.nhs.uk/Questionnaire/GenomicTestOrder Version: 2.1.4
Draft as of 2026-07-24 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.

Order Entry Questions

Diagnostic Genomics

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. Questionnaire https://fhir.nwgenomics.nhs.uk/Questionnaire/GenomicTestOrder#2.1.4
... Patient Patient 0..1 group Definition: Patient
Value Set:
.... LN/45394-4 Patient surname 1..1 string Definition: Patient.name.family
Value Set:
.... LN/45392-8 Patient first name 1..1 string Definition: Patient.name.given
Value Set:
.... LN/21112-8 Date of birth 1..1 date Definition: Patient.birthDate
Value Set:
.... LN/81954-0 Date of death 0..1 date Definition: Patient.deceasedDateTime
Value Set:
.... LN/56799-0 Address 0..1 group Definition: Patient.address
Value Set:
..... HL7/PID-11-1 Address Line 0..* string Definition: Patient.address.line
Value Set:
..... HL7/PID-11-3 City 0..1 string Definition: Patient.address.city
Value Set:
..... LN/45401-7 Postcode 0..1 string Definition: Patient.address.postalCode
Value Set:
.... LN/46098-0 Sex registered at birth 0..1 choice Definition: Patient.gender
Value Set: AdministrativeGender
.... LN/32624-9 Ethnic Category 0..1 choice Definition: Patient.extension:ethnicCategory
Value Set: Ethnicity
.... LN/89061-6 NHS Number 0..1 string Definition: Patient.identifier:nhsNumber
Value Set:
.... LN/76435-7 Hospital Number (Medical Record Number) 1..1 string Definition: Patient.identifier:MedicalRecordNumber
Value Set:
.... LN/56797-4 Account Number (Episode or Stay Number) 0..1 string Definition: ServiceRequest.encounter.identifier.value
Value Set:
..... LN/56797-4-designNote PV1-19 (also known as stay number) 0..1 display Value Set:
.... ageAtCollection Age at collection (ignore for FHIR) 0..1 decimal Value Set:
.... LN/89009-5 Location 0..1 string Definition: Encounter.location
Value Set:
.... HL7/PD1-3 GP Surgery (ODS Code) 0..1 choice Definition: Patient.generalPractitioner
Value Set:
... HealthcareProfessional Healthcare Professional 0..1 group Definition: PractitionerRole
Value Set:
.... LN/18705-4 Referring Clinician Name 1..1 string Definition: PractitionerRole.practitioner.display
Value Set:
.... LN/18707-0 Referring Clinician Current Speciality 1..1 choice Definition: PractitionerRole.specialty.coding.code
Value Set: UK Core Practice Setting Code
.... LN/46608-6 Referring Clinician Professional Identifier 1..1 string Definition: PractitionerRole.practitioner.identifier.value
Value Set:
.... LN/89058-2 Email 0..* string Definition: PractitionerRole.telecom.value
Value Set:
.... LN/81230-5 Phone 0..1 string Definition: PractitionerRole.telecom.value
Value Set:
.... HL7/ORC-21 Referring Organisation ODS Code / Ordering Facility 0..1 string Definition: PractitionerRole.organization.identifier.value
Value Set:
... TestRequest Test Request 0..1 group Definition: ServiceRequest
Value Set:
.... SNM/15220000 Test Category 0..1 choice Definition: ServiceRequest.category
Value Set: Order Category
.... HL7/OBR-4-r Test Code (Rare and inherited diseases) 1..* choice Definition: ServiceRequest.code
Enable When: SNM/15220000 = Rare and inherited diseases Genetic Testing (procedure) (NW GMSA Codes#RareAndInheritedDiseasesGeneticTesting)
Value Set: Genomic Rare and Inherited Disease Test Directory
.... HL7/OBR-4-h Test Code (Haemoglobinopathy) 1..* choice Definition: ServiceRequest.code
Enable When: SNM/15220000 = Haemoglobinopathy Genetic Testing (procedure) (NW GMSA Codes#HaemoglobinopathyGeneticTesting)
Value Set:
Options: 5 options
.... HL7/OBR-4-c Test Code (Cancer) 1..* choice Definition: ServiceRequest.code
Enable When: SNM/15220000 = Cancer Genetic Testing (procedure) (NW GMSA Codes#CancerGeneticTesting)
Value Set: Genomic Cancer Test Directory
.... pedigreeNumber G Number (Pedigree Number) - Order Group Number 0..1 string Definition: Patient.identifier:PedigreeNumber
Value Set:
.... LN/106194-4 Test request ID/Order ID 0..1 string Definition: ServiceRequest.identifier:OrderIdentifier
Value Set:
.... LN/82768-3 Priority 0..1 choice Definition: ServiceRequest.priority
Value Set: Request Priority
.... NOS/GeneticistEmail Clinical Geneticist email 0..1 string Definition: Observation.valueString
Value Set:
.... NOS/GeneticistDepartmentEmail Clinical Geneticist department email 0..1 string Definition: Observation.valueString
Value Set:
.... Consent Consent 0..1 group Value Set:
..... LN/19826-7 Has consent has been obtained for tests (Y/N) 0..1 choice Definition: Observation.valueCodeableConcept
Value Set:
Options: 2 options
..... LN/75520-7 Has consent has been obtained for DNA storage (Y/N) 0..1 choice Definition: Observation.valueCodeableConcept
Value Set:
Options: 2 options
..... NOS/RODToFollow ROD attached or to follow 0..1 choice Definition: Observation.valueCodeableConcept
Value Set:
Options: 3 options
.... PatientClinicalInformation Patient Clinical Information 0..1 group Value Set:
..... LN/51967-8 CITT code (Specific disease suspected/reason for testing) 0..* choice Definition: ServiceRequest.reasonCode
Value Set: Genomic Clinical Indication Codes
..... HL7/NTE-1 Relevant clinical information and family history 0..1 string Definition: ServiceRequest.note
Value Set:
..... HL7/NTE-2 Reason For Variant Re-Interpretation Request 0..1 string Definition: ServiceRequest.note
Value Set:
... Specimen Specimen/Biopsy 0..1 group Definition: Specimen
Value Set:
.... HL7/SPM Sample collection status 0..1 choice Definition: Specimen.status
Value Set: SpecimenStatus
.... LN/80398-1 Specimen ID Number 0..1 string Definition: Specimen.identifier
Value Set:
..... LN/80398-1-designNote ORM v2.4 - OBX-3 = LOINC 80398-1 and OBX-2 = CE. OML v2.5.1 SPM-2 0..1 display Value Set:
.... Specimen/accessionIdentifier Lab DNA Number (If Known) 0..1 string Definition: Specimen.accessionIdentifier
Value Set:
.... LN/80398-1-ODS Pathology Laboratory Hospital/Trust ID (for Path Lab Sample/Stored DNA) 0..1 string Definition: Specimen.accessionIdentifier.assigner.identifier.value
Value Set:
.... LN/33882-2 Specimen Collection Date 0..1 dateTime Definition: Specimen.collection.collectedDateTime
Value Set:
..... LN/33882-2-designNote ORM v2.4 - OBX-3 = LOINC 33882-2 and OBX-2 = TS . OML v2.5.1 SPM-17 0..1 display Value Set:
.... LN/66746-9 Specimen Type 0..1 choice Definition: Specimen.type.coding.code
Value Set: Specimen Type
..... LN/66746-9-designNote ORM v2.4 - OBX-3 = LOINC 66746-9 and OBX-2 = CE. OML v2.5.1 SPM-4 0..1 display Value Set:
.... SNM/281269004 High Infection Risk? 0..1 choice Definition: Observation.valueCodeableConcept
Value Set:
Options: 2 options
.... NOS/InfectionRiskDetails High infection Risk Details 0..1 string Definition: Observation.valueString
Value Set:
.... LN/74384-9 Anticoagulant/preservative? 0..1 choice Definition: Observation.valueCodeableConcept
Value Set:
Options: 2 options
.... LN/39111-0 Tissue source/organ of origin 0..1 choice Definition: Specimen.collection.bodySite
Value Set:
.... LN/3169-0 Specimen Volume/number of slides or scrolls 0..1 string Definition: Specimen.collection.quantity
Value Set:
.... OrderTracking Audit (Specimen Tracking) 0..1 group Definition: Specimen.collection
Value Set:
..... NOS/SampleReceived Date and time sample received in lab 0..1 date Definition: Specimen.receivedTime
Value Set:
..... NOS/SampleSent Date and time sample sent 0..1 date Definition: Observation.valueDateTime
Value Set:
..... NOS/TransportUsed Transport used 0..1 string Definition: Observation.valueString
Value Set:
..... LN/97209-1 Tracking number 0..1 string Definition: Specimen.identifier[ShipmentTrackingNumber]
Value Set:
..... NOS/SampleSentTo Sample sent to 0..1 string Definition: Observation.valueString
Value Set:
..... NOS/SampleSentToName Name of person who sent sample 0..1 string Definition: Observation.valueString
Value Set:
... AskAtOrderEntry Ask At Order Entry Questions 0..1 group Value Set:
.... SNM/842009 Patient is from consanguineous union? 0..1 choice Definition: Observation.valueCodeableConcept
Value Set:
Options: 3 options
.... SNM/74996004-pathology-report Confirm that a pathology report will be provided alongside the sample. 0..1 choice Definition: Observation.valueCodeableConcept
Value Set:
Options: 3 options
.... SNM/118185001 Neonatal/Prenatal/Neither? 0..1 choice Definition: Observation.valueCodeableConcept
Value Set:
Options: 3 options
..... pregnant Pregnant 0..1 group Enable When: SNM/118185001 = Pregnancy (SNOMED CT#77386006)
Value Set:
...... SNM/370386005 Does this test relate to a pregnancy with > 1 fetus? 0..1 string Definition: Observation.valueCodeableConcept
Value Set:
Options: 3 options
...... SNM/161714006 Patient expected delivery date 0..1 date Definition: Observation.valueDateTime
Value Set:
...... SNM/598151000005105 Patient gestation 0..1 integer Definition: Observation.valueQuantity
Value Set:
.... SNM/17369002 Is this test for a pregnancy loss? 0..1 choice Definition: Observation.valueCodeableConcept
Value Set:
Options: 3 options
.... SNM/419099009 Is this test for a deceased infant? 0..1 choice Definition: Observation.valueCodeableConcept
Value Set:
Options: 3 options

doco Documentation for this format

Options Sets

Answer options for HL7/OBR-4-h

  • https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory#R361.1
  • https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory#R361.2
  • https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory#R372.1
  • https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory#R93.1
  • https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory#R93.2

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")

Profile: Questionnaire

Patient

  • linkId: Patient
  • Definition:: Patient
  • Answers:

Patient surname*

Patient first name*

Date of birth*

Date of death

Address

Address Line

City

Postcode

Sex registered at birth

Ethnic Category

NHS Number

Hospital Number (Medical Record Number)*

Account Number (Episode or Stay Number)

PV1-19 (also known as stay number)

  • linkId: LN/56797-4-designNote
  • Answers:

Age at collection (ignore for FHIR)

  • linkId: ageAtCollection
  • Answers:

Location

GP Surgery (ODS Code)

Healthcare Professional

Referring Clinician Name*

Referring Clinician Current Speciality*

Referring Clinician Professional Identifier*

Email

Phone

Referring Organisation ODS Code / Ordering Facility

Test Request

Test Category

Test Code (Rare and inherited diseases)*

Test Code (Haemoglobinopathy)*

Test Code (Cancer)*

G Number (Pedigree Number) - Order Group Number

Test request ID/Order ID

Priority

Clinical Geneticist email

Clinical Geneticist department email

Consent

  • linkId: Consent
  • Answers:

Has consent has been obtained for tests (Y/N)

Has consent has been obtained for DNA storage (Y/N)

ROD attached or to follow

Patient Clinical Information

  • linkId: PatientClinicalInformation
  • Answers:

CITT code (Specific disease suspected/reason for testing)

Relevant clinical information and family history

Reason For Variant Re-Interpretation Request

Specimen/Biopsy

  • linkId: Specimen
  • Definition:: Specimen
  • Answers:

Sample collection status

Specimen ID Number

ORM v2.4 - OBX-3 = LOINC 80398-1 and OBX-2 = CE. OML v2.5.1 SPM-2

  • linkId: LN/80398-1-designNote
  • Answers:

Lab DNA Number (If Known)

Pathology Laboratory Hospital/Trust ID (for Path Lab Sample/Stored DNA)

Specimen Collection Date

ORM v2.4 - OBX-3 = LOINC 33882-2 and OBX-2 = TS . OML v2.5.1 SPM-17

  • linkId: LN/33882-2-designNote
  • Answers:

Specimen Type

ORM v2.4 - OBX-3 = LOINC 66746-9 and OBX-2 = CE. OML v2.5.1 SPM-4

  • linkId: LN/66746-9-designNote
  • Answers:

High Infection Risk?

High infection Risk Details

Anticoagulant/preservative?

Tissue source/organ of origin

Specimen Volume/number of slides or scrolls

Audit (Specimen Tracking)

Date and time sample received in lab

Date and time sample sent

Transport used

Tracking number

Sample sent to

Name of person who sent sample

Ask At Order Entry Questions

  • linkId: AskAtOrderEntry
  • Answers:

Patient is from consanguineous union?

Confirm that a pathology report will be provided alongside the sample.

Neonatal/Prenatal/Neither?

Pregnant

  • linkId: pregnant
  • Enable When: todo
  • Answers:

Does this test relate to a pregnancy with > 1 fetus?

Patient expected delivery date

Patient gestation

Is this test for a pregnancy loss?

Is this test for a deceased infant?

Profile: Questionnaire

LinkIDDescription & Constraintsdoco
.. Patient Definition: Patient
Value Set:
... LN/45394-4 Definition: Patient.name.family
Value Set:
... LN/45392-8 Definition: Patient.name.given
Value Set:
... LN/21112-8 Definition: Patient.birthDate
Value Set:
... LN/81954-0 Definition: Patient.deceasedDateTime
Value Set:
... LN/56799-0 Definition: Patient.address
Value Set:
.... HL7/PID-11-1 Definition: Patient.address.line
Value Set:
.... HL7/PID-11-3 Definition: Patient.address.city
Value Set:
.... LN/45401-7 Definition: Patient.address.postalCode
Value Set:
... LN/46098-0 Definition: Patient.gender
Value Set: AdministrativeGender
... LN/32624-9 Definition: Patient.extension:ethnicCategory
Value Set: Ethnicity
... LN/89061-6 Definition: Patient.identifier:nhsNumber
Value Set:
... LN/76435-7 Definition: Patient.identifier:MedicalRecordNumber
Value Set:
... LN/56797-4 Definition: ServiceRequest.encounter.identifier.value
Value Set:
.... LN/56797-4-designNote Value Set:
... ageAtCollection Value Set:
... LN/89009-5 Definition: Encounter.location
Value Set:
... HL7/PD1-3 Definition: Patient.generalPractitioner
Value Set:
.. HealthcareProfessional Definition: PractitionerRole
Value Set:
... LN/18705-4 Definition: PractitionerRole.practitioner.display
Value Set:
... LN/18707-0 Definition: PractitionerRole.specialty.coding.code
Value Set: UK Core Practice Setting Code
... LN/46608-6 Definition: PractitionerRole.practitioner.identifier.value
Value Set:
... LN/89058-2 Definition: PractitionerRole.telecom.value
Value Set:
... LN/81230-5 Definition: PractitionerRole.telecom.value
Value Set:
... HL7/ORC-21 Definition: PractitionerRole.organization.identifier.value
Value Set:
.. TestRequest Definition: ServiceRequest
Value Set:
... SNM/15220000 Definition: ServiceRequest.category
Value Set: Order Category
... HL7/OBR-4-r Definition: ServiceRequest.code
Enable When: Not done yet
Value Set: Genomic Rare and Inherited Disease Test Directory
... HL7/OBR-4-h Definition: ServiceRequest.code
Enable When: Not done yet
Value Set:
Options: 5 options
... HL7/OBR-4-c Definition: ServiceRequest.code
Enable When: Not done yet
Value Set: Genomic Cancer Test Directory
... pedigreeNumber Definition: Patient.identifier:PedigreeNumber
Value Set:
... LN/106194-4 Definition: ServiceRequest.identifier:OrderIdentifier
Value Set:
... LN/82768-3 Definition: ServiceRequest.priority
Value Set: Request Priority
... NOS/GeneticistEmail Definition: Observation.valueString
Value Set:
... NOS/GeneticistDepartmentEmail Definition: Observation.valueString
Value Set:
... Consent Value Set:
.... LN/19826-7 Definition: Observation.valueCodeableConcept
Value Set:
Options: 2 options
.... LN/75520-7 Definition: Observation.valueCodeableConcept
Value Set:
Options: 2 options
.... NOS/RODToFollow Definition: Observation.valueCodeableConcept
Value Set:
Options: 3 options
... PatientClinicalInformation Value Set:
.... LN/51967-8 Definition: ServiceRequest.reasonCode
Value Set: Genomic Clinical Indication Codes
.... HL7/NTE-1 Definition: ServiceRequest.note
Value Set:
.... HL7/NTE-2 Definition: ServiceRequest.note
Value Set:
.. Specimen Definition: Specimen
Value Set:
... HL7/SPM Definition: Specimen.status
Value Set: SpecimenStatus
... LN/80398-1 Definition: Specimen.identifier
Value Set:
.... LN/80398-1-designNote Value Set:
... Specimen/accessionIdentifier Definition: Specimen.accessionIdentifier
Value Set:
... LN/80398-1-ODS Definition: Specimen.accessionIdentifier.assigner.identifier.value
Value Set:
... LN/33882-2 Definition: Specimen.collection.collectedDateTime
Value Set:
.... LN/33882-2-designNote Value Set:
... LN/66746-9 Definition: Specimen.type.coding.code
Value Set: Specimen Type
.... LN/66746-9-designNote Value Set:
... SNM/281269004 Definition: Observation.valueCodeableConcept
Value Set:
Options: 2 options
... NOS/InfectionRiskDetails Definition: Observation.valueString
Value Set:
... LN/74384-9 Definition: Observation.valueCodeableConcept
Value Set:
Options: 2 options
... LN/39111-0 Definition: Specimen.collection.bodySite
Value Set:
... LN/3169-0 Definition: Specimen.collection.quantity
Value Set:
... OrderTracking Definition: Specimen.collection
Value Set:
.... NOS/SampleReceived Definition: Specimen.receivedTime
Value Set:
.... NOS/SampleSent Definition: Observation.valueDateTime
Value Set:
.... NOS/TransportUsed Definition: Observation.valueString
Value Set:
.... LN/97209-1 Definition: Specimen.identifier[ShipmentTrackingNumber]
Value Set:
.... NOS/SampleSentTo Definition: Observation.valueString
Value Set:
.... NOS/SampleSentToName Definition: Observation.valueString
Value Set:
.. AskAtOrderEntry Value Set:
... SNM/842009 Definition: Observation.valueCodeableConcept
Value Set:
Options: 3 options
... SNM/74996004-pathology-report Definition: Observation.valueCodeableConcept
Value Set:
Options: 3 options
... SNM/118185001 Definition: Observation.valueCodeableConcept
Value Set:
Options: 3 options
.... pregnant Enable When: Not done yet
Value Set:
..... SNM/370386005 Definition: Observation.valueCodeableConcept
Value Set:
Options: 3 options
..... SNM/161714006 Definition: Observation.valueDateTime
Value Set:
..... SNM/598151000005105 Definition: Observation.valueQuantity
Value Set:
... SNM/17369002 Definition: Observation.valueCodeableConcept
Value Set:
Options: 3 options
... SNM/419099009 Definition: Observation.valueCodeableConcept
Value Set:
Options: 3 options

doco Documentation for this format

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