NHS North West Genomics
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Questionnaire: Haemoglobinopathy Genetic Testing Ask At Order Entry Questions

Official URL: https://fhir.nwgenomics.nhs.uk/Questionnaire/HaemoglobinopathyGeneticAskAtOrderEntry Version: 2.2.0
Unknown as of 2026-09-20 Computable Name:

For analysis purposes only - not an active or planned project.

Ask At Order Entry Questions for the NW GLH paper Request for Genetic Testing for Haemoglobinopathies form (DOC4544), used alongside the common core order form - see Order Entry Questions. Two things are distinctive here: prior full blood count/HPLC laboratory results are submitted with the request (used to interpret the genetic result, not produced by it), and a relative/partner's own affected/carrier status can be referenced to give a couple-specific pregnancy risk.

This Questionnaire is compared against Genomic Test Order - see NW GLH Paper Test Request Forms - but does not yet declare derivedFrom/extends it: unlike the Ask At Order Entry Questionnaires that originated from an existing digital order-entry screen (see Order Entry Questions), this one hasn't yet been processed into the specific electronic Ask At Order Entry shape that relationship implies for use in an actual order. It structures the NW GLH paper Request for Genetic Testing for Haemoglobinopathies form (DOC4544) - see NW Genomics paper test request forms for how this compares to the other paper forms.

Source form: Request for Genetic Testing for Haemoglobinopathies, DOC4544 (PDF)

Summary

Item Paper Form Field FHIR
Surname/Forename/DoB Free text Patient.name / Patient.birthDate
NHS No/Sex/Hospital No Free text Patient.identifier:nhsNumber / Patient.gender / Patient.identifier:MedicalRecordNumber
Address/Postcode Free text Patient.address
Ethnicity/country of origin Local A-H category scheme Patient.extension:ethnicCategory
Referring Clinician (Consultant, Hospital, Department, Copy report to, Telephone No, Email) Free text PractitionerRole
Test Code R361.1/R361.2/R372.1/R93.1/R93.2 (tick boxes) ServiceRequest.code
Antenatal patient / gestation Yes/no + weeks Observation.valueBoolean / Observation.valueQuantity
Laboratory results Hb, RBC, MCV, MCH, Ferritin, Hb A2 %, Hb F %, Other Hb % Observation.valueQuantity, one per analyte
Relative/partner Name/DOB, affected/carrier status, known variant ServiceRequest.supportingInfo -> RelatedPerson, Observation

The Laboratory Results group is unusual among these forms: it submits prior full blood count/HPLC results with the request, to help interpret the genetic result, rather than being an outcome the genomic test itself produces. No Order Placer Number, Account Number/Hospital Spell Identifier, or clinician professional identifier (GMC/GMP) field is present on the paper form.

Profile: Questionnaire

Structure
LinkIDTextCardinalityTypeDescription & Constraintsdoco
.. **For analysis purposes only - not an active or planned project.** **Ask At Order Entry Questions** for the NW GLH paper **Request for Genetic Testing for Haemoglobinopathies** form (DOC4544), used alongside the [common core order form](Questionnaire-GenomicTestOrder.html) - see [Order Entry Questions](Questionnaire-GenomicTestOrder.html#order-entry-questions). Two things are distinctive here: prior full blood count/HPLC laboratory results are submitted *with* the request (used to interpret the genetic result, not produced by it), and a relative/partner's own affected/carrier status can be referenced to give a couple-specific pregnancy risk. Questionnaire https://fhir.nwgenomics.nhs.uk/Questionnaire/HaemoglobinopathyGeneticAskAtOrderEntry#2.2.0
... Patient Patient Details 0..1 group Definition: Patient
Value Set:
.... LN/45394-4 Surname 0..1 string Definition: Patient.name.family
Value Set:
.... LN/45392-8 Forename 0..1 string Definition: Patient.name.given
Value Set:
.... LN/21112-8 DoB 0..1 date Definition: Patient.birthDate
Value Set:
.... LN/89061-6 NHS No 0..1 string Definition: Patient.identifier:nhsNumber
Value Set:
.... LN/46098-0 Sex 0..1 choice Definition: Patient.gender
Value Set: AdministrativeGender
.... LN/76435-7 Hospital No 0..1 string Definition: Patient.identifier:MedicalRecordNumber
Value Set:
.... LN/56799-0 Address 0..1 string Definition: Patient.address.line
Value Set:
.... LN/45401-7 Postcode 0..1 string Definition: Patient.address.postalCode
Value Set:
.... LN/32624-9 Ethnicity/country of origin 0..1 choice Definition: Patient.extension:ethnicCategory
Value Set: Ethnicity
..... LN/32624-9-designNote The paper form's own section 3 uses a local A-H category scheme (Mixed/White/Mediterranean/Asian/South East Asian/Black/Arabic/Don't know, several free-text 'please specify country'), distinct from - and not yet mapped to - this IG's own Ethnicity ValueSet used here. Same scheme as Prenatal Haemoglobinopathy's own equivalent field. 0..1 display Value Set:
... HealthcareProfessional Referring Clinician 0..1 group Definition: PractitionerRole
Value Set:
.... LN/18705-4 Consultant 0..1 string Definition: PractitionerRole.practitioner.display
Value Set:
.... HL7/ORC-21 Hospital 0..1 string Definition: PractitionerRole.organization.identifier.value
Value Set:
.... LN/18707-0 Department 0..1 choice Definition: PractitionerRole.specialty.coding.code
Value Set: UK Core Practice Setting Code
.... NOS/CopyReportTo Copy report to 0..1 string Value Set:
..... NOS/CopyReportTo-designNote Same genuinely-additional-person gap identified on the GMS WGS national forms' own Main Contact group and Genomic Test Order - Common Fields We May Have Missed (Copy Report To). 0..1 display Value Set:
.... LN/81230-5 Telephone No 0..1 string Definition: PractitionerRole.telecom.value
Value Set:
.... LN/89058-2 Email 0..1 string Definition: PractitionerRole.telecom.value
Value Set:
... HL7/OBR-4-h-genetic Test Code (Haemoglobinopathy) 1..* choice Definition: ServiceRequest.code
Value Set:
Options: 5 options
... NOS/AntenatalPatient Antenatal patient? 0..1 boolean Definition: Observation.valueBoolean
Value Set:
.... NOS/AntenatalPatient-designNote Same underlying question as Neonatal/Prenatal/Neither in NW Genomic General Ask At Order Questions (SNM/118185001), simplified to yes/no here since the paper form does not distinguish a neonatal case. 0..1 display Value Set:
... SNM/598151000005105-genetic-haem Gestation of pregnancy 0..1 integer Definition: Observation.valueQuantity
Enable When: NOS/AntenatalPatient = true
Value Set:
.... SNM/598151000005105-genetic-haem-designNote Same question (and code) as Patient gestation in NW Genomic General Ask At Order Questions (SNM/598151000005105) - repeated here because exactly one Ask At Order Entry Questionnaire applies per order, not because this is new content. 0..1 display Value Set:
... LaboratoryResults Laboratory Results 0..1 group Value Set:
.... LN/718-7 Hb (g/L) 0..1 quantity Definition: Observation.valueQuantity
Value Set:
.... LN/789-8 RBC (x10^12/L) 0..1 quantity Definition: Observation.valueQuantity
Value Set:
.... LN/787-2 MCV (fL) 0..1 quantity Definition: Observation.valueQuantity
Value Set:
.... LN/785-6 MCH (pg) 0..1 quantity Definition: Observation.valueQuantity
Value Set:
.... LN/2276-4 Ferritin (µg/L) 0..1 quantity Definition: Observation.valueQuantity
Value Set:
.... NOS/HbA2Percent Hb A2 (%) 0..1 quantity Definition: Observation.valueQuantity
Value Set:
.... NOS/HbFPercent Hb F (%) 0..1 quantity Definition: Observation.valueQuantity
Value Set:
.... NOS/OtherHbPercent Other Hb (%) 0..1 quantity Definition: Observation.valueQuantity
Value Set:
... RelativeOrPartner Relative/Partner of a patient who is affected with, or a carrier of, a haemoglobinopathy 0..1 group Value Set:
.... NOS/RelativeOrPartnerReference Name and DOB of relative/partner 0..1 reference Definition: ServiceRequest.supportingInfo
Value Set:
.... NOS/RelativeOrPartnerStatus Status of relative/partner 0..1 choice Definition: Observation.valueCodeableConcept
Value Set:
Options: 2 options
.... NOS/RelativeOrPartnerVariant Details of the relative/partner's variant, if known 0..1 string Definition: Observation.valueString
Value Set:

doco Documentation for this format

Options Sets

Answer options for HL7/OBR-4-h-genetic

  • 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 NOS/RelativeOrPartnerStatus

  • https://fhir.nwgenomics.nhs.uk/CodeSystem/NWGMSA#GeneticStatusAffected
  • https://fhir.nwgenomics.nhs.uk/CodeSystem/NWGMSA#GeneticStatusCarrier

Profile: Questionnaire

Patient Details

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

Surname

Forename

DoB

NHS No

Sex

Hospital No

Address

Postcode

Ethnicity/country of origin

The paper form's own section 3 uses a local A-H category scheme (Mixed/White/Mediterranean/Asian/South East Asian/Black/Arabic/Don't know, several free-text 'please specify country'), distinct from - and not yet mapped to - this IG's own Ethnicity ValueSet used here. Same scheme as Prenatal Haemoglobinopathy's own equivalent field.

  • linkId: LN/32624-9-designNote
  • Answers:

Referring Clinician

Consultant

Hospital

Department

Copy report to

  • linkId: NOS/CopyReportTo
  • Answers:

Same genuinely-additional-person gap identified on the GMS WGS national forms' own Main Contact group and Genomic Test Order - Common Fields We May Have Missed (Copy Report To).

  • linkId: NOS/CopyReportTo-designNote
  • Answers:

Telephone No

Email

Test Code (Haemoglobinopathy)*

Antenatal patient?

Same underlying question as Neonatal/Prenatal/Neither in NW Genomic General Ask At Order Questions (SNM/118185001), simplified to yes/no here since the paper form does not distinguish a neonatal case.

  • linkId: NOS/AntenatalPatient-designNote
  • Answers:

Gestation of pregnancy

Same question (and code) as Patient gestation in NW Genomic General Ask At Order Questions (SNM/598151000005105) - repeated here because exactly one Ask At Order Entry Questionnaire applies per order, not because this is new content.

  • linkId: SNM/598151000005105-genetic-haem-designNote
  • Answers:

Laboratory Results

  • linkId: LaboratoryResults
  • Answers:

Hb (g/L)

RBC (x10^12/L)

MCV (fL)

MCH (pg)

Ferritin (µg/L)

Hb A2 (%)

Hb F (%)

Other Hb (%)

Relative/Partner of a patient who is affected with, or a carrier of, a haemoglobinopathy

  • linkId: RelativeOrPartner
  • Answers:

Name and DOB of relative/partner

Status of relative/partner

Details of the relative/partner's variant, if known

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/89061-6 Definition: Patient.identifier:nhsNumber
Value Set:
... LN/46098-0 Definition: Patient.gender
Value Set: AdministrativeGender
... LN/76435-7 Definition: Patient.identifier:MedicalRecordNumber
Value Set:
... LN/56799-0 Definition: Patient.address.line
Value Set:
... LN/45401-7 Definition: Patient.address.postalCode
Value Set:
... LN/32624-9 Definition: Patient.extension:ethnicCategory
Value Set: Ethnicity
.... LN/32624-9-designNote Value Set:
.. HealthcareProfessional Definition: PractitionerRole
Value Set:
... LN/18705-4 Definition: PractitionerRole.practitioner.display
Value Set:
... HL7/ORC-21 Definition: PractitionerRole.organization.identifier.value
Value Set:
... LN/18707-0 Definition: PractitionerRole.specialty.coding.code
Value Set: UK Core Practice Setting Code
... NOS/CopyReportTo Value Set:
.... NOS/CopyReportTo-designNote Value Set:
... LN/81230-5 Definition: PractitionerRole.telecom.value
Value Set:
... LN/89058-2 Definition: PractitionerRole.telecom.value
Value Set:
.. HL7/OBR-4-h-genetic Definition: ServiceRequest.code
Value Set:
Options: 5 options
.. NOS/AntenatalPatient Definition: Observation.valueBoolean
Value Set:
... NOS/AntenatalPatient-designNote Value Set:
.. SNM/598151000005105-genetic-haem Definition: Observation.valueQuantity
Enable When: Not done yet
Value Set:
... SNM/598151000005105-genetic-haem-designNote Value Set:
.. LaboratoryResults Value Set:
... LN/718-7 Definition: Observation.valueQuantity
Value Set:
... LN/789-8 Definition: Observation.valueQuantity
Value Set:
... LN/787-2 Definition: Observation.valueQuantity
Value Set:
... LN/785-6 Definition: Observation.valueQuantity
Value Set:
... LN/2276-4 Definition: Observation.valueQuantity
Value Set:
... NOS/HbA2Percent Definition: Observation.valueQuantity
Value Set:
... NOS/HbFPercent Definition: Observation.valueQuantity
Value Set:
... NOS/OtherHbPercent Definition: Observation.valueQuantity
Value Set:
.. RelativeOrPartner Value Set:
... NOS/RelativeOrPartnerReference Definition: ServiceRequest.supportingInfo
Value Set:
... NOS/RelativeOrPartnerStatus Definition: Observation.valueCodeableConcept
Value Set:
Options: 2 options
... NOS/RelativeOrPartnerVariant Definition: Observation.valueString
Value Set:

doco Documentation for this format

Test this Questionnaire

Try this questionnaire out:

Responses for this Questionnaire

There are currently no QuestionnaireResponse instances for this Questionnaire defined in this IG.