| Code | Display |
| SouthEastAsian |
South East Asian |
| NorthernEuropean |
Northern European |
| JewishNOS |
Jewish NOS |
| IrishTraveller |
Gypsy/Traveller/ Irish Traveller |
| Traveller |
Gypsy/Traveller |
| Roma |
Roma |
| AshkenaziJew |
Ashkenazi Jew, follower of religion (person) |
| RareAndInheritedDiseasesGeneticTesting |
Rare and inherited diseases Genetic Testing (procedure) |
| PreNatalGeneticTesting |
Pre Natal Genetic Testing (procedure) |
| HaemoglobinopathyGeneticTesting |
Haemoglobinopathy Genetic Testing (procedure) |
| CancerGeneticTesting |
Cancer Genetic Testing (procedure) |
| GeneticistEmail |
Clinical Geneticist email |
| GeneticistDepartmentEmail |
Clinical Geneticist department email |
| RODToFollow |
ROD attached or to follow |
| InfectionRiskDetails |
High infection Risk Details |
| VariantReinterpretationReason |
Reason For Variant Re-Interpretation Request |
| SampleSent |
Date and time sample sent |
| TransportUsed |
Transport used |
| SampleSentTo |
Sample sent to |
| SampleSentToName |
Name of person who sent sample |
| TESTOUTCOME |
NHS England Genomics Test Outcome |
| FamilyStructure |
Family Structure |
| ParticipantType |
Participant Type |
| RelatedIndividualRole |
Related Individual Role |
| RoleConsultand |
Consultand |
| RoleProband |
Proband |
| 230056 |
What Type of Referral Do You Require? |
| 230016 |
Test Type |
| 231284 |
Please Select R240 Test(s): |
| 231285 |
Please Select R242 Test(s): |
| 230027 |
Email Addresses of Non-MFT Clinicians for Result Reports |
| 230037 |
Please Acknowledge That a DNA Sample Will be Stored in the Laboratory on Completion of Testing |
| 230039 |
Is the Person Ordering the Test the Referring Clinician |
| GENEAP |
GENETICS TEST PERFORMABLE |
| unknown |
Unknown |
| ZCID |
Container Identifier |
| Patient |
Patient |
| Donor |
Donor |
| StemCell |
Stem cell |
| Renal |
Renal |
| Thoracic |
Thoracic |
| Kidney |
Kidney |
| Pancreas |
Pancreas |
| Islets |
Islets |
| SimultaneousPancreasKidney |
Simultaneous Pancreas/Kidney |
| SimultaneousIsletKidney |
Simultaneous Islet/Kidney |
| HLATypingAntibodyScreening |
HLA Typing + Antibody Screening |
| HLAAntibodyScreening |
HLA Antibody Screening |
| HLATypeRecipient |
HLA Type Recipient |
| DSA |
DSA |
| HLAAutoXM |
HLA Auto XM |
| HistoBlood |
Blood |
| HistoBuccal |
Buccal |
| HistoOther |
Other |
| ChimerismBloodPB |
Blood (PB) |
| ChimerismBoneMarrowBM |
Bone Marrow (BM) |
| ChimerismPeripheralBlood |
Chimerism Peripheral Blood |
| ChimerismCD3 |
Chimerism CD3 |
| ChimerismCD15 |
Chimerism CD15 |
| ChimerismCD19 |
Chimerism CD19 |
| ChimerismLineageOther |
Chimerism Lineage Other |
| HRDPathwayNewlyDiagnosed |
HRD/tumour BRCA pathway - newly diagnosed |
| HRDPathwayRelapsed |
HRD/tumour BRCA pathway - relapsed |
| NewlyDiagnosedAdvancedDiseaseConfirmation |
Confirmation of newly diagnosed, advanced high-grade epithelial ovarian, fallopian tube or primary peritoneal cancer |
| RelapsedDiseaseConfirmation |
Confirmation of relapsed high-grade disease, second line of treatment or beyond |
| NeoplasticCellContent |
Neoplastic cell content (%) |
| PathologistName |
Pathologist name |
| PathologyHospital |
Pathology hospital |
| MyriadInternationalTransferConsent |
Consent for tissue, pathology report and personal details to be sent to Myriad Genetics Inc. (United States) for analysis |
| HaemOncPanelRequested |
Haemato-Oncology test panel requested |
| DifferentialDiagnosis |
Differential diagnosis/clinical question |
| ClinicalUtilityPatientManagement |
Patient management (determining therapeutic decisions and/or clinical investigations and/or surveillance programme) |
| ClinicalUtilityReproductiveDecision |
Patient, parents, or adult relative reproductive decision making |
| ClinicalUtilityPredictiveTesting |
Unaffected relatives are seeking predictive testing |
| TargetedFamilialVariant |
Known familial variant and affected relative details (targeted familial testing) |
| RelativeOrPartnerStatus |
Status of relative/partner (affected or carrier) |
| RelativeOrPartnerVariant |
Details of the relative/partner's variant, if known |
| GeneticStatusAffected |
Affected |
| GeneticStatusCarrier |
Carrier |
| HbA2Percent |
Hb A2 (%) |
| HbFPercent |
Hb F (%) |
| OtherHbPercent |
Other Hb (%) |
| CFReferralScenario |
CF carrier testing referral scenario |
| CFReferralFamilyHistory |
Family history of CF |
| CFReferralPartner |
Partner of a patient affected with, or a carrier of, CF |
| WGSPathwayRareDiseaseProband |
WGS pathway - Rare Disease, Proband |
| WGSPathwayRareDiseaseFamilyMember |
WGS pathway - Rare Disease, Family Member |
| WGSPathwayCancerTumour |
WGS pathway - Cancer, Tumour Sample |
| WGSPathwayCancerGermline |
WGS pathway - Cancer, Germline Sample |
| VariantReviewReasonNewInformation |
New information (e.g. segregation data, change in phenotype, publication) |
| VariantReviewReasonTimeElapsed |
Sufficient time having passed since the initial review (>2 years) |
| VariantReviewReasonUrgent |
Urgent clinical scenario, e.g. prenatal diagnosis |
| VariantReviewReasonFormalClassification |
Variant requiring formal classification, using ACGS guidelines, where none exists |
| ReportReference |
Prior report reference |
| DeafnessSyndromePendred |
Pendred syndrome |
| DeafnessSyndromeUsher |
Usher syndrome |
| DeafnessSyndromeJervellLangeNielsen |
Jervell-Lange Nielsen syndrome |
| DeafnessSyndromeWaardenburg |
Waardenburg syndrome |
| DeafnessSyndromeBranchioOtoRenal |
Branchio-oto-renal syndrome |
| DeafnessSyndromeWolfram |
Wolfram syndrome |
| DeafnessRiskFactorPrematurity |
Prematurity |
| DeafnessRiskFactorHyperbilirubinemia |
Hyperbilirubinemia |
| DeafnessRiskFactorProlongedNNUStay |
Prolonged neonatal care unit stay |
| DeafnessRiskFactorOtotoxicMedication |
Ototoxic medication |
| AudiogramSeverityRight |
Audiogram severity - right ear |
| AudiogramSeverityLeft |
Audiogram severity - left ear |
| AudiogramProgression |
Audiogram progression |
| NHSPatient |
NHS patient |
| PrivatePatient |
Private patient |
| ReportMethodEmail |
Email |
| ReportMethodFax |
Fax |
| ReasonNHSNumberNotAvailable |
Reason NHS Number not available |
| FamilyTestType |
Family test type (Singleton/Trio/Other) |
| FamilyTestSingleton |
Singleton |
| FamilyTestTrio |
Trio |
| FamilyTestOther |
Other |
| FamilyMemberStatus |
Family member status (form field purpose unconfirmed) |
| UrgencyReason |
Reason for urgency (Clinical Priority) |
| AdditionalPanels |
Additional gene panel(s) (Genomics England PanelApp, GMS Rare Disease Virtual) |
| ProbandAgeAtOnset |
Proband's age at onset of clinical features |
| SpecificRareDiseaseSuspected |
Specific rare disease suspected or confirmed |
| HPOTerm |
HPO (Human Phenotype Ontology) term |
| MainContact |
Main contact (if different from responsible clinician/consultant) |
| PresentationStatus |
Presentation status (First diagnosis/Recurrence/Relapse/Unknown) |
| PresentationFirstDiagnosis |
First diagnosis |
| PresentationRecurrenceRelapse |
Recurrence/Relapse |
| TumourPresentationType |
Tumour presentation type (Primary/Metastatic/Unknown/Lymphoma) |
| TumourPresentationPrimary |
Primary |
| TumourPresentationMetastatic |
Metastatic |
| TumourPresentationLymphoma |
Lymphoma |
| HistopathologyLabID |
Histopathology Lab ID |
| SIHMDSLabID |
SIHMDS Lab ID |
| HaematoOncologyLiquidTumourType |
Haemato-oncology liquid tumour type (AML/ALL/Other) |
| NucleatedCellCount |
Nucleated cell count (bone marrow/peripheral blood sample) |
| FamilyMemberPotentialDonor |
Family Member / Potential Donor |
| CMVPositive |
Positive |
| CMVNegative |
Negative |
| CMVDontKnow |
Don't know |
| HLAClassITyping |
HLA Class I type |
| HLAClassIAndIITyping |
HLA Class I and Class II type |
| ChimerismTotalWholeBlood |
Total / Whole Blood |
| ChimerismLineageSpecificHSCT |
Lineage specific |
| CategoryPatientRenal |
Patient - Renal |
| CategoryPatientNonRenal |
Patient - Non-Renal |
| CategoryDonor |
Donor |
| RenalPreDialysis |
Pre-dialysis |
| RenalCAPD |
CAPD |
| RenalHaemodialysis |
Haemodialysis |
| RenalPostTransplant |
Post transplant |
| NonRenalCardiothoracic |
Cardiothoracic |
| NonRenalLiverSmallBowel |
Liver/small bowel |
| NonRenalCornea |
Cornea |
| NonRenalOther |
Other |
| DonorPreTransplant |
Pre transplant |
| DonorPostTransplant |
Post transplant |
| DonorLiveDonor |
Live donor |
| DonorAltruisticDonor |
Altruistic donor |
| OrganHLAType |
HLA type |
| OrganHLASpecificAntibodies |
HLA specific antibodies |
| OrganLiveDonorCrossmatch |
Live donor crossmatch |
| OrganAutoCrossmatch |
Auto crossmatch |
| WGSParticipantTypeProband |
Proband |
| WGSParticipantTypeFamilyMember |
Family Member |
