North West Genomic Medicine Service Alliance
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DRAFT Implementation Guide

This is for collaboration and discussion purposes and is subject to change.

North West Genomic Medicine Service Alliance - Local Development build (v0.0.1) built by the FHIR (HL7® FHIR® Standard) Build Tools. See the Directory of published versions

Questionnaire: Genomic Order Entry Optional Questions

Official URL: https://nw-gmsa.github.io/Questionnaire/GenomicOrderEntryOptionalQuestions Version: 0.0.1
Draft as of 2025-06-19 Computable Name:

Questionnaire Viewer

THIS IS FOR ANALYSIS PURPOSES ONLY, and is not to be used for implementation.

LinkIDTextCardinalityTypeDescription & Constraintsdoco
.. Questionnairehttps://nw-gmsa.github.io/Questionnaire/GenomicOrderEntryOptionalQuestions#0.0.1
... OrderOrder0..1group
.... 230016Test Type0..1choiceDefinition: ServiceRequest.code
Value Set: Genomic Rare and Inherited Disease Test Directory
.... 405824009Test Type0..1choiceDefinition: ServiceRequest.code
Value Set: Genomic Rare and Inherited Disease Test Directory
.... 230018Test Type0..1choiceDefinition: ServiceRequest.code
Value Set: Genomic Rare and Inherited Disease Test Directory
.... 114867Name of Supervising Clinician0..1string
.... 230022Referral Comments (Please include any previous or familial variant details, if appropriate)0..1string​Definition: ServiceRequest.note.text
.... 230039Is the Person Ordering the Test the Referring Clinician0..1string​Definition: ServiceRequest.requester.display
... SpecimenSpecimen0..*group
.... 113979Specimen Source0..1string
.... 66746-9Specimen Type0..1choiceDefinition: Specimen.type
Value Set: Specimen Type
..... 66746-9-designNoteORM v2.4 - OBX-3 = LOINC 66746-9 and OBX-2 = CE. OML v2.5.1 SPM-40..1display
.... 230002Specimen Source0..1string
.... 230003Anticoagulant/Preservative0..1string​Definition: Specimen.condition
.... 230004Number of Duplicate Vials (If Needed)0..1string
.... 230005Specimen Description(s)/Sample Identifier(s) for DNA or Pathology Material (e.g. Block Number)0..1string
.... 281269004High Infection Risk0..1choice​Definition: Specimen.condition
Value Set: Yes/No
..... 281269004-designNotev2.4/v2.5.1 OBX-3 = SNOMED 281269004 and OBX-2 = CE0..1display
.... 230020Infection Risk Details0..1string​Definition: Specimen.condition.text
.... 33882-2Date of Specimen(s) Collection0..1dateTime​Definition: Specimen.collection.collectedDateTime
..... 281269004-designNoteORM v2.4 - OBX-3 = LOINC 33882-2 and OBX-2 = TS . OML v2.5.1 SPM-170..1display
.... 230063Specimen Type0..1choiceDefinition: Specimen.type
.... 80398-1Sample Identifier(s) for DNA or Pathology Material (e.g. Block Number)0..1string​Definition: Specimen.identifier.value
..... 80398-1-designNoteORM v2.4 - OBX-3 = LOINC 80398-1 and OBX-2 = CE. OML v2.5.1 SPM-20..1display
.... 1186936003Please Acknowledge That a DNA Sample Will be Stored in the Laboratory on Completion of Testing0..1string
... Supporting InformationSupporting Information0..1groupDefinition: ServiceRequest.supportingInfo
.... 102313High Infection Risk?0..1choice​Definition: Observation.valueCoding
Value Set: Yes/No
.... 230023Proband or Family Member0..1string
.... 89058-2Email Addresses of Non-MFT Clinicians for Result Reports0..1string
.... 762911000000102Confirmation of Consent for Testing - MANDATORY Testing will not be performed without completed confirmation of consent0..1choiceValue Set: Yes/No
.... UnknownResultsPanelUnknown Results Panel0..1group
..... 250537006Neoplastic Cell Content Level0..1quantity​Definition: Observation.valueQuantity
..... 230031Neoplastic Cell Content Level %0..1quantity​Definition: Observation.valueQuantity
..... 252416005Macrodissection Requirements0..1string
..... 230033Blast Cell Count0..1quantity​Definition: Observation.valueQuantity
.... ReasonReason0..1group
..... 77386006Does This Test Relate to a Pregnancy0..1choiceValue Set: Yes/No/Unknown
..... 385675009Reason For Variant Re-Interpretation Request0..1string
..... 230048Please Select Clinical Indication(s)0..1string
..... 230057Please Select Clinical Indication(s)0..1string
.... 230035Is This Test Request for a Deceased Infant or Pregnancy Loss0..1choiceValue Set: Yes/No
.... 230036Mother's Details (Name, DOB, NHS & MRN)0..1string
.... 230038Please Confirm the Pathology Report will Accompany the Sample to the Laboratory0..1string
.... 230045Lab DNA Number (If Known)0..1string
.... 230059TEST0..1string
.... 230060TEST20..1string
.... 169222003What were the Abnormal Scan Findings:0..1string
.... 78989007Please enter the trisomy screening risk (including the chromosome of interest if appropriate).0..1string
.... 230064Has the patient had a transplant?0..1choiceValue Set: Yes/No
.... 230065What Type Of Transplant Has The Patient Received0..1choice
.... 230066Is The Patient Suspected Of Having Lung Cancer?0..1choiceValue Set: Yes/No
.... 230067Please Confirm That Lung Cancer Tissue is Inadequate for Testing?0..1choiceValue Set: Yes/No
.... 230068Please Select Advanced Stage Lung Cancer Stage0..1choice
.... 230100Please Note That An Additional Test Order Form 'Whole Genome Sequencing Rare Disease Order Form (Link at Top of Form)' is Required To Activate Testing. If This is Not Received, The DNA Will Be Extracted and Stored0..1string

doco Documentation for this format