Patient

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

Reuses the same items as Genomic Test Order's Patient group - both populate the same HL7 v2 PID segment.

• linkId: Patient-designNote
• Answers:

Patient surname*

• linkId: LN/45394-4
• Definition:: Patient.name.family
• Answers:

Patient first name*

• linkId: LN/45392-8
• Definition:: Patient.name.given
• Answers:

Date of birth*

• linkId: LN/21112-8
• Definition:: Patient.birthDate
• Answers:

Address

• linkId: LN/56799-0
• Definition:: Patient.address
• Answers:

Address Line

• linkId: HL7/PID-11-1
• Definition:: Patient.address.line
• Answers:

Postcode

• linkId: LN/45401-7
• Definition:: Patient.address.postalCode
• Answers:

Sex registered at birthMaleFemaleOtherUnknown

• linkId: LN/46098-0
• Definition:: Patient.gender
• Answers: AdministrativeGender

NHS Number

• linkId: LN/89061-6
• Definition:: Patient.identifier:nhsNumber
• Answers:

Hospital Number (Medical Record Number)

• linkId: LN/76435-7
• Definition:: Patient.identifier:MedicalRecordNumber
• Answers:

Account Number (Episode or Stay Number)

• linkId: LN/56797-4
• Definition:: ServiceRequest.encounter.identifier.value
• Answers:

PV1-19 (Visit/Account Number) - not the unrelated v2 ACC segment.

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

G Number (Pedigree Number)

• linkId: pedigreeNumber
• Definition:: Observation.valueString
• Answers:

Links the proband to consultands (at-risk relatives) referred as part of the same family investigation - see Distributed WGS (dWGS) Family Structure/Participant Type pattern. Modelled as Observation.valueString, not a Patient identifier - see Genomic General Ask At Order Entry's own G Number (Pedigree Number) item and WholeGenomicSequence.html for why.

• linkId: pedigreeNumber-designNote
• Answers:

Referring Provider/Organisation (ORC-12 / ORC-21)

• linkId: ReferringProvider
• Definition:: PractitionerRole
• Answers:

OMG^O19 ORC-12 (ordering provider) and ORC-21 (ordering facility). Reuses the same items as Genomic Test Order's Healthcare Professional group.

• linkId: ReferringProvider-designNote
• Answers:

Referring Clinician Name*

• linkId: LN/18705-4
• Definition:: PractitionerRole.practitioner.display
• Answers:

Referring Clinician Current SpecialityGeneral SurgeryUrologyVascular SurgeryTrauma and OrthopaedicsEar Nose and ThroatOphthalmologyOral SurgeryRestorative DentistryPaediatric DentistryOrthodonticsOral and Maxillofacial SurgeryEndodonticsPeriodonticsProsthodonticsSurgical DentistryNeurosurgeryPlastic SurgeryCardiothoracic SurgeryPaediatric SurgeryEmergency MedicineAnaestheticsIntensive Care MedicineAviation and Space MedicineGeneral Internal MedicineGastroenterologyEndocrinology and DiabetesClinical HaematologyClinical PhysiologyClinical PharmacologyAudio Vestibular MedicineClinical GeneticsClinical ImmunologyRehabilitation MedicinePalliative MedicineAllergyCardiologyPaediatric CardiologySport and Exercise MedicineAcute Internal MedicineDermatologyRespiratory MedicineInfectious DiseasesTropical MedicineGenitourinary MedicineRenal MedicineMedical OncologyNuclear MedicineNeurologyClinical NeurophysiologyRheumatologyPaediatricsPaediatric NeurologyGeriatric MedicineDental MedicineSpecial Care DentistryMedical OphthalmologyObstetrics and GynaecologyObstetricsGynaecologyCommunity Sexual and Reproductive HealthMidwiferyGeneral Medical PracticeGeneral Dental PracticeLearning DisabilityAdult Mental IllnessChild and Adolescent PsychiatryForensic PsychiatryMedical PsychotherapyOld Age PsychiatryClinical OncologyRadiologyGeneral PathologyBlood TransfusionChemical PathologyHaematologyHistopathologyImmunopathologyMedical Microbiology and VirologyMedical MicrobiologyMedical VirologyCommunity MedicineOccupational MedicineCommunity Health Services DentalPublic Health MedicinePublic Health DentalNursingAllied Health Professional

• linkId: LN/18707-0
• Definition:: PractitionerRole.specialty.coding.code
• Answers: UK Core Practice Setting Code

Referring Clinician Professional Identifier

• linkId: LN/46608-6
• Definition:: PractitionerRole.practitioner.identifier.value
• Answers:

Email

• linkId: LN/89058-2
• Definition:: PractitionerRole.telecom.value
• Answers:

Phone

• linkId: LN/81230-5
• Definition:: PractitionerRole.telecom.value
• Answers:

Referring Organisation ODS Code

• linkId: HL7/ORC-21
• Definition:: PractitionerRole.organization.identifier.value
• Answers:

Referred-to Provider/Service (MSH-5 / MSH-6)

• linkId: ReferredToProvider
• Definition:: ServiceRequest.performer
• Answers:

OMG^O19 MSH-5 / MSH-6 (receiving application / facility) - who/what the referral is being sent to. Genomic Test Order has no equivalent group: an order's Order Filler is implicit/fixed (the destination LIMS), whereas a referral explicitly names the receiving clinic/service - see Differences from Genomic Test Order below. May be a named clinician (PractitionerRole) or a service/clinic (HealthcareService) rather than a named individual.

• linkId: ReferredToProvider-designNote
• Answers:

Referred-to Service/Clinic Name

• linkId: ReferredToProvider/serviceName
• Definition:: HealthcareService.name
• Answers:

Referred-to Organisation ODS Code

• linkId: ReferredToProvider/organisationCode
• Definition:: PractitionerRole.organization.identifier.value
• Answers:

Named Consultant/Clinician (if known)

• linkId: ReferredToProvider/clinicianName
• Definition:: PractitionerRole.practitioner.display
• Answers:

Referral (ORC / OBR)

• linkId: Referral
• Definition:: ServiceRequest
• Answers:

Referral Identifier

• linkId: HL7/ORC-2
• Definition:: ServiceRequest.identifier:OrderIdentifier
• Answers:

Referral StatusDraftActiveOn HoldRevokedCompletedEntered in ErrorUnknown

• linkId: HL7/ORC-5
• Definition:: ServiceRequest.status
• Answers: RequestStatus

PriorityRoutine The request has normal priority.Urgent

• linkId: LN/82768-3
• Definition:: ServiceRequest.priority
• Answers: Request Priority

Referral Type / Service Requested??

• linkId: HL7/OBR-4
• Definition:: ServiceRequest.code
• Answers:
• Answers: 1 option

For a clinical genetics referral this is SNOMED CT 306119003. Unlike Genomic Test Order's Test Code, this is not a Genomic Test Directory code: it names the clinical service/assessment being requested (e.g. genetic counselling, cascade testing), not a specific lab test.

• linkId: HL7/OBR-4-designNote
• Answers:

Reason for Referral (OBR-31 / DG1)

• linkId: ReasonForReferral
• Answers:

Suspected/confirmed condition (reason for referral)Acutely unwell children with a likely monogenic disorderPrimary immunodeficiency or monogenic inflammatory bowel diseaseSevere combined immunodeficiency with adenosine deaminase deficiencyLymphoproliferative syndrome with absent SAP expressionHaemophagocytic syndrome with absent XIAP expressionAutoimmune lymphoproliferative syndrome with defective apoptosisWiskott-Aldrich syndromeFetal anomalies with a likely genetic causeFetus with a likely chromosomal abnormalityApert syndromeAchondroplasiaThanatophoric dysplasiaLikely common aneuploidyPaediatric disordersCongenital malformation and dysmorphism syndromesBilateral congenital or childhood onset cataractsRetinal disordersPossible X-linked retinitis pigmentosaStructural eye diseaseSporadic aniridiaAlbinism or congenital nystagmusOptic neuropathyLeber hereditary optic neuropathyBlepharophimosis ptosis and epicanthus inversusStickler syndromeCongenital fibrosis of the extraocular musclesAngelman syndromePrader-Willi syndromeBeckwith-Wiedemann syndromeIsolated hemihypertrophy or macroglossiaShort stature - SHOX deficiencyHereditary ataxia with onset in adulthoodHereditary ataxia with onset in childhoodAdult onset dystonia, chorea or related movement disorderChildhood onset dystonia, chorea or related movement disorderAdult onset hereditary spastic paraplegiaChildhood onset hereditary spastic paraplegiaAdult onset leukodystrophyPossible mitochondrial disorder - nuclear genesMELAS or MIDDAminoglycoside exposure posing risk to hearingParoxysmal central nervous system disordersMonogenic hearing lossHuntington diseaseHypotonic infantSpinal muscular atrophy type 1 diagnostic testSpinal muscular atrophy type 1 rare variant testingMyotonic dystrophy type 1Duchenne or Becker muscular dystrophyFacioscapulohumeral muscular dystrophyOculopharyngeal muscular dystrophySkeletal muscle channelopathyHereditary neuropathy - PMP22 copy numberHereditary neuropathy or pain disorderCongenital muscular dystrophyCongenital myaesthenic syndromeCongenital myopathyLimb girdle muscular dystrophies, myofibrillar myopathies and distal myopathiesArthrogryposisCerebellar anomaliesHoloprosencephaly - NOT chromosomalHydrocephalusCerebral malformationSevere microcephalyUltra-rare and atypical monogenic disordersBleeding and platelet disordersCytopenia - NOT Fanconi anaemiaRare anaemiaSickle cell, thalassaemia and other haemoglobinopathiesIron overload - hereditary haemochromatosis testingIron metabolism disorders - NOT common HFE variantsThrombophilia with a likely monogenic causeLikely inborn error of metabolismCommon craniosynostosis syndromesRare syndromic craniosynostosis or isolated multisuture synostosisEhlers Danlos syndrome with a likely monogenic causeOsteogenesis imperfectaSkeletal dysplasiaMCADD - Medium-chain acyl-CoA dehydrogenase deficiency – common variant newborn screening follow upAlstrom syndromeBardet Biedl syndromeChildhood onset leukodystrophySegmental overgrowth disorders - Deep sequencingX-inactivation testingFactor II deficiencyFactor V deficiencyFactor VII deficiencyFactor VIII deficiencyFactor IX deficiencyFactor X deficiencyFactor XI deficiencyvon Willebrand diseaseFactor XIII deficiencyCombined vitamin K-dependent clotting factor deficiencyCombined factor V and VIII deficiencyThoracic aortic aneurysm or dissectionLong QT syndromeBrugada syndrome and cardiac sodium channel diseaseCatecholaminergic polymorphic VTShort QT syndromeHypertrophic cardiomyopathyDilated and Arrhythmogenic cardiomyopathyArrhythmogenic right ventricular cardiomyopathyFamilial hypercholesterolaemiaPaediatric or syndromic cardiomyopathyPrimary lymphoedemaCongenital heart disease - microarraySudden unexplained death or survivors of a cardiac eventLaterality disorders and isomerismElastin-related phenotypesMonogenic diabetesGlucokinase-related fasting hyperglycaemiaNeonatal diabetesCongenital hyperinsulinismCongenital hypothyroidismDifferences in sex developmentHypogonadotropic hypogonadismSevere early-onset obesityCongenital adrenal hypoplasiaFamilial hyperparathyroidism or Hypocalciuric hypercalcaemiaFamilial hypoparathyroidismHypophosphataemia or ricketsAutoimmune Polyendocrine SyndromeCarney complexIPEX - Immunodysregulation Polyendocrinopathy and Enteropathy, X-LinkedSevere insulin resistance and lipodystrophy syndromesPituitary hormone deficiencyPrimary pigmented nodular adrenocortical diseaseFamilial tumoral calcinosisEctodermal dysplasiaEpidermolysis bullosa and congenital skin fragilityIchthyosis and erythrokeratodermaPalmoplantar keratodermasAutosomal recessive primary hypertrophic osteoarthropathyNon-acute porphyriasAcute intermittent porphyriaVariegate porphyriaCholestasisWilson diseasePolycystic liver diseasePancreatitisGilbert syndromeCongenital adrenal hyperplasia diagnostic testCongenital adrenal hyperplasia carrier testingHyperthyroidismGlucocorticoid-remediable aldosteronism (GRA)Cystic fibrosis diagnostic testCystic fibrosis carrier testingHereditary haemorrhagic telangiectasiaPulmonary arterial hypertensionRespiratory ciliopathies including non-CF bronchiectasisPneumothorax - familialAlpha-1-antitrypsin deficiencyCystic renal diseaseHaematuriaProteinuric renal diseaseCFHR5 nephropathyMembranoproliferative glomerulonephritis including C3 glomerulopathyRenal tubulopathiesCongenital anomalies of the kidney and urinary tract - familialAtypical haemolytic uraemic syndromeTubulointerstitial kidney diseaseHereditary Systemic AmyloidosisInherited ovarian cancer (without breast cancer)Inherited breast cancer and ovarian cancerInherited MMR deficiency (Lynch syndrome)Inherited polyposis and early onset colorectal cancer - germline testingPeutz Jeghers SyndromePTEN Hamartoma Tumor SyndromeNevoid Basal Cell Carcinoma Syndrome or Gorlin syndromeHereditary diffuse gastric cancerLi Fraumeni SyndromeEndocrine neoplasiaMultiple endocrine neoplasia type 2RetinoblastomaFamilial tumours of the nervous systemNeurofibromatosis type 1Inherited phaeochromocytoma and paraganglioma excluding NF1Inherited renal cancerVon Hippel Lindau syndromeInherited parathyroid cancerXeroderma pigmentosum, Trichothiodystrophy or Cockayne syndromeTuberous sclerosisConfirmed Fanconi anaemia or Bloom syndrome - variant testingMultiple monogenic benign skin tumoursNeuronal ceroid lipofuscinosisHaemophagocytic syndrome with absent perforin expressionAgammaglobulinaemia with absent BTK expressionSevere combined immunodeficiency with PNP deficiencySCID with features of gamma chain deficiencyPigmentary skin disordersCutaneous photosensitivity with a likely genetic causeIncontinentia pigmentiDiagnostic testing for known variant(s)Predictive testing for known familial variant(s)Carrier testing for known familial variant(s)Carrier testing at population risk for partners of known carriers of nationally agreed autosomal recessive disordersNIPD using paternal exclusion testing for very rare conditions where familial variant is knownNIPD for congenital adrenal hyperplasia - CYP21A2 haplotype testingNon-invasive prenatal sexingSMA carrier testing at population risk for partners of known carriersCystic fibrosis newborn screening follow-upFamilial melanomaEpidermodysplasia verruciformisNephrocalcinosis or nephrolithiasisUnexplained young onset end-stage renal diseaseCytopenia - Fanconi breakage testing indicatedNijmegen breakage syndromeFanconi anaemia or Bloom syndrome - chromosome breakage testingCorneal dystrophyConfirmation of uniparental disomyIdentity testingChromosomal mosaicism - karyotypeKagami-Ogata syndrome - paternal uniparental disomy 14Smith-Lemli-Opitz syndromeNeuronal ceroid lipofuscinosis type 2Gaucher diseaseGlycogen storage disease VGlycogen storage diseaseGlutaric acidaemia I newborn screening follow upLysosomal storage disorderMucopolysaccharidosis type IH/SMucopolysaccharidosis type IIIsovaleric acidaemia newborn screening follow upKrabbe disease – GALC deficiencyKrabbe disease - Saposin A deficiencyNiemann-Pick disease type A or BPhenylketonuriaSandhoff diseaseTay-Sachs diseaseMucopolysaccharidosis type IVAGM1 Gangliosidosis and Mucopolysaccharidosis Type IVBMucolipidosis II and III Alpha/BetaMucopolysaccharidosis type VIMucopolysaccharidosis type IIIAMucopolysaccharidosis type IIIBAlbright hereditary osteodystrophy, pseudohypoparathyroidism, pseudopseudohypoparathyroidism, acrodysostosis and osteoma cutisAtaxia telangiectasia - DNA repair testingAtaxia telangiectasia - variant testingRNA analysis of variantsPossible structural or mosaic chromosomal abnormality - FISHPossible mitochondrial disorder - mitochondrial DNA rearrangement testingPossible mitochondrial disorder - whole mitochondrial genome sequencingPossible mitochondrial disorder - mitochondrial DNA depletion testingNIPD for cystic fibrosis - haplotype testingNIPD for cystic fibrosis - variant testingNIPD for Apert syndrome - variant testingNIPD for Crouzon syndrome with acanthosis nigricans - variant testingNIPD for FGFR2-related craniosynostosis syndromes - variant testingNIPD for FGFR3-related skeletal dysplasias - variant testingNIPD for Duchenne and Becker muscular dystrophy - haplotype testingNIPD for spinal muscular atrophy - variant testingParental sequencing for lethal autosomal recessive disordersNeutropaenia consistent with ELANE variantsAmbiguous genitaliaPOLG-related disorderPyruvate dehydrogenase (PDH) deficiencyMitochondrial liver disease, including transient infantile liver failureRecurrent miscarriage with products of conception available for testingCalcium-sensing receptor phenotypesInvasive prenatal diagnosis requiring fetal sexingMaternal cell contamination testingSkin fibroblasts to be cultured and storedSitosterolaemiaFamilial Chylomicronaemia Syndrome (FCS)Lysosomal acid lipase deficiencyVascular skin disordersMosaic skin disorders - deep sequencingProgressive cardiac conduction diseaseFamilial dysalbuminaemic hyperthyroxinaemiaAlveolar capillary dysplasia with misalignment of pulmonary veinsIntestinal failure or congenital diarrhoeaRare genetic inflammatory skin disordersCentral congenital hypoventilationCystinosisFabry diseaseCerebral vascular malformationsCADASILMonitoring for G(M)CSF escape variantsAmelogenesis imperfectaHereditary angioedema types I and IIChromosomal mosaicism - microarrayPrimary hyperaldosteronism - KCNJ5Facioscapulohumeral muscular dystrophy - extended testingDNA to be storedInherited predisposition to acute myeloid leukaemia (AML)MERRF syndromeNARP syndrome or maternally inherited Leigh syndromeMitochondrial DNA maintenance disorderMitochondrial disorder with complex I deficiencyMitochondrial disorder with complex II deficiencyMitochondrial disorder with complex III deficiencyMitochondrial disorder with complex IV deficiencyMitochondrial disorder with complex V deficiencySickle cell, thalassaemia and other haemoglobinopathies trait or carrier testingInherited predisposition to GISTDICER1-related cancer predispositionFumarate hydratase-related tumour syndromesInherited susceptibility to acute lymphoblastoid leukaemia (ALL)Inherited pancreatic cancerHereditary angioedema type IIIValidation of unaccredited findingsMalignant hyperthermiaNewborn screening for sickle cell disease in a transfused babyRNA to be storedOther sample to be storedFamily follow-up testing to aid variant interpretationSegmental or atypical neurofibromatosis type 1 testingNiemann Pick disease type COther rare neuromuscular disordersHypochondroplasiaLinkage testing for Huntington diseaseGeneralised arterial calcification in infancyReanalysis of existing dataNIPD - pre-pregnancy test work-upMultiple exostosesBarth syndromeMitochondrial neurogastrointestinal encephalopathyThiamine metabolism dysfunction syndrome 2Mitochondrial Complex V deficiency, TMEM70 typeMaternally inherited cardiomyopathyCommon aneuploidy testing - prenatalPremature ovarian insufficiencyMCADD - Medium-chain acyl-CoA dehydrogenase deficiency – full ACADM sequencing newborn screening follow upTesting of unaffected individuals for inherited cancer predisposition syndromesHereditary ErythrocytosisThrombocythaemiaLinkage testing for other recognisable Mendelian disordersMyotonic dystrophy type 2 (DM2)Y chromosome microdeletionFetal anomalies with a likely genetic cause - non urgentAutoinflammatory DisordersAPC associated PolyposisSyndromic and non syndromic craniosynostosis involving midline suturesMulti Locus Imprinting Disorder (MLID)Acute RhabdomyolysisPseudoxanthoma elasticumPulmonary Fibrosis, FamilialBAP1 associated tumour predisposition syndromeNIPD for Retinoblastoma - haplotype testingSubcutaneous panniculitis T-cell lymphoma (SPTCL)Pulmonary alveolar microlithiasisPatient receiving solid organ transplantation (only in cases where passenger lymphocyte syndrome is suspected)Inherited prostate cancerGenome-wide DNA Methylation Profiling to Aid Variant InterpretationMonogenic diabetes, subtype glucokinase - NIPTHereditary alpha tryptasaemiaPaediatric pseudo-obstruction syndromeHereditary isolated diabetes insipidusUnexplained death in infancy and sudden unexplained death in childhoodVariant re-interpretationConfirmation testNICE approved PARP inhibitor treatmentT21, T18 and T13 aneuploidy testing - NIPT (previous history)APOL1 kidney donor testingValidation of WGS Diagnostic discoveryPrenatal testingDiagnostic testing for Glutaric acidaemia IDiagnostic testing for Isovaleric acidaemiaDiagnostic testing for MCADD - Medium-chain acyl-CoA dehydrogenase deficiency – full ACADM sequencingSilver russell syndrome and Temple SyndromeMonogenic short statureMavacamten for treating symptomatic obstructive hypertrophic cardiomyopathyEmbryonal tumour of possible germline originSarcoma of possible germline originYoung onset or familial dementiaYoung onset or complex Parkinson diseaseAmyotrophic lateral sclerosisCerebral amyloid angiopathyChildhood interstitial lung diseaseCytogenetic characterisation of a genomic abnormality – Karyotype or Targeted Chromosome AnalysisRecurrent miscarriage where products of conception are not available for testing - parental karyotypeFamilial cytogenetic rearrangement - Karyotype or Targeted Chromosome AnalysisUnexplained infertility - karyotypeGamete donors - karyotypePossible sex chromosome aneuploidy or structural rearrangement – Targeted Chromosome AnalysisT21, T18, and T13 aneuploidy testing - NIPT NHS Fetal Anomaly Screening Programme (FASP)Neurodegenerative Disorders, adult onset – Prenatal Exclusion TestingColorectal CarcinomaOvarian CarcinomaBreast CancerNon-Small Cell Lung CancerMesotheliomaMucoepidermoid CarcinomaMelanoma - AdultGastrointestinal Stromal TumourThyroid Papillary Carcinoma - AdultThyroid Follicular CarcinomaPoorly Differentiated Anaplastic Thyroid CarcinomaThyroid Medullary CarcinomaPhaeochromocytomaAdrenal Cortical CarcinomaHead and Neck Squamous Cell CarcinomaAdenoid Cystic CarcinomaSecretory Carcinoma (Salivary Gland)Renal Cell Carcinoma - AdultAlveolar RhabdomyosarcomaAlveolar Soft Part SarcomaAneurysmal Bone CystAngiomatoid Fibrous HistiocytomaChondrosarcoma Conventional CentralChondroblastomaClear Cell Sarcoma of Soft TissueCNS Ewing Sarcoma Family Tumour With CIC AlterationDermatofibrosarcoma ProtuberansDesmoid-Type FibromatosisDesmoplastic Small Round Cell TumourEndometrial Stromal SarcomaEpithelioid HaemangioendotheliomaEwing Like Sarcoma/PNETEwing Sarcoma of BoneEwing-Like Soft-Tissue SarcomaExtraskeletal Myxoid ChondrosarcomaFibrous Dysplasia/Myxomas (Mazabraud Syndrome)Giant Cell Tumour of BoneHigh-Grade Neuroepithelial Tumour-Bcor GroupInfantile FibrosarcomaInflammatory Myofibroblastic TumourLow Grade Fibromyxoid SarcomaMesenchymal ChondrosarcomaMyoepithelial Tumours of Soft TissueMyxoid/Round Cell LiposarcomaMyxoinflammatory Fibroblastic SarcomaNodular FasciitisOsteosarcomaPhosphaturic Mesenchymal TumourPrimitive Mesenchymal Myxoid Tumour of InfancyPseudomyogenic HaemangioendotheliomaRadiation Induced AngiosarcomaRound Cell Sarcoma NosSclerosing Epithelioid FibrosarcomaSynovial SarcomaUndifferentiated Round Cell Sarcoma of InfancyWell Differentiated/Dedifferentiated LiposarcomaPaediatric TumoursClear Cell Kidney Sarcoma - PaediatricCongenital Mesoblastic Nephroma - PaediatricCystic Nephroma - PaediatricLung - PaediatricMelanotic Tumours - PaediatricMidline Carcinoma - PaediatricNeuroblastoma - PaediatricThyroid Papillary Carcinoma - PaediatricPleuropulmonary Blastoma - PaediatricRenal Tumours - PaediatricRetinoblastoma - PaediatricRhabdoid Tumours - Paediatrict(6;11) Translocation-Associated Renal Cell Carcinoma - PaediatricTesticular - PaediatricWilms Tumours - PaediatricXp11.2 Translocation-Associated Renal Cell Carcinoma - PaediatricUveal melanomaBone Forming Soft Tissue Tumour DifferentialRound Cell Sarcoma of Soft Tissue DifferentialVascular Soft Tissue Tumour DifferentialSpindle Cell Soft Tissue Tumour DifferentialMyxoid Soft Tissue Tumour DifferentialAdipocytic Soft Tissue Tumour DifferentialEpithelioid Soft Tissue Tumour DifferentialUterine Sarcomas (Inc Endometrial)Undifferentiated tumourCartilage Forming Bone Tumour DifferentialBone Forming Bone Tumour DifferentialOsteoclast-Rich Bone Tumour DifferentialRound Cell Sarcoma of Bone DifferentialVascular Tumour of Bone DifferentialSpindle Cell Tumour of Bone DifferentialFibro-Osseous Tumour of Bone DifferentialRenal Tumour Differential - PaediatricEndometrial CancerUrothelial CarcinomaProstate CancerPancreatic CancerCholangiocarcinomaSpitzoid tumourHepatocellular carcinomaCarcinoma of Unknown PrimarySolid tumour other (i.e. specific histology not listed elsewhere in the test directory)Small cell lung cancerSolid Tumour Exhausted all Standards of Care Testing and Treatment- AdultHigh Grade Ovarian CarcinomaTriple Negative Breast CancerOesophageal CancerGastric CancerSmall Bowel CancerThyroid Hurtle Cell CarcinomaNon-invasive follicular thyroid neoplasm with papillary like nucleiConjunctival melanomaAny patient receiving solid organ transplantation (only in cases where passenger lymphocyte syndrome is suspected)Thymic CarcinomaIn all tumours eligible for NTRK1/2/3 testingOvarian sex cord stromal tumoursAnaplastic AstrocytomaAstrocytomaDiffuse AstrocytomaDiffuse Midline GliomaEmbryonal Tumours with Multi-Layered RosettesEpendymomaEpendymomaGlioblastomaGliomaHigh Grade GliomaIDH-Wildtype GlioblastomaLow Grade GliomaLow Grade Glioma/Glioneuronal TumoursMeningiomaNon-Midline GliomaOligodendroGliomaPilocytic AstrocytomaPineoblastomaPituitary TumoursRare Primitive Neuroectodermal Tumours Groups 2/3Acute Myeloid LeukaemiaTransient Abnormal MyelopoiesisMyelodysplasiaAplastic AnaemiaChronic Myeloid LeukaemiaMyeloproliferative NeoplasmSystemic MastocytosisChronic Neutrophilic LeukaemiaJuvenile Myelomonocytic LeukaemiaAcute Leukaemia OtherBlastic Plasmacytoid Dendritic Cell NeoplasmAcute Lymphoblastic LeukaemiaPlasma Cell DyscrasiaLymphomaChronic Lymphocytic LeukaemiaB cell Non-Hodgkin LymphomaBurkitt LymphomaBurkitt Like Lymphoma with 11q AbnormalitiesLarge B Cell Like Lymphoma with IRF4 RearrangementHigh Grade LymphomaPrimary Mediastinal B Cell LymphomaALK Positive Large B Cell LymphomaMantle Cell LymphomaFollicular LymphomaLymphoplasmacytic Lymphoma/Waldenstrom MacroglobulinaemiaIgm Monoclonal Gammopathy of Uncertain SignificanceIntra-Ocular LymphomaMalt-LymphomaHairy Cell LeukaemiaHairy Cell LeukaemiaPaediatric Type Follicular LymphomaT Cell Non-Hodgkin LymphomaALK Negative Anaplastic Large Cell Lymphoma (Including Primary Cutaneous Subtypes)T Prolymphocytic LeukaemiaLarge Granular Lymphocyte LeukaemiaNK Cell/Gamma-Delta T Cell LymphomaHepatosplenic T Cell LymphomaHistiocytosisAny patient undergoing Allogeneic Haematopoietic Stem Cell transplantationAtypical Teratoid/Rhabdoid TumourCNS High-Grade Neuroepithelial Tumour with MN1 AlterationCribriform Neuroepithelial TumourDesmoplastic Infantile GangliogliomasDesmoplastic MedulloblastomaFibrolamellar Hepatocellular CarcinomaGangliogliomaGlial TumoursGlioblastomaMedulloblastomaMedulloblastoma Group 3Medulloblastoma Group 3/4Medulloblastoma TP53 WTMeningiomaNodular Brain TumourOligoastrocytomaOligodendrogliomaPilocytic AstrocytomaPituitary BlastomaPleomorphic XanthoastrocytomaPrimitive Neuroectodermal TumoursRosette-Forming Glioneuronal TumourSecondary GlioblastomaSHH MedulloblastomaSHH MedulloblastomaSHH MedulloblastomaWNT MedulloblastomaHairy Cell LeukaemiaALK Positive Anaplastic Large Cell LymphomaDiffuse Midline GliomaGliomaHigh Grade GliomaLow Grade GliomaBrain TumourEmbryonal Tumour DifferentialLow Grade Intrinsic Brain Tumour DifferentialHigh Grade Intrinsic Brain Tumour DifferentialUnable To Grade Intrinsic Brain TumourMedulloblastoma all SubtypesCraniopharyngiomaGlial and Glioneuronal Tumour DifferentialMDS/MPNSuspected LymphomaProven or Suspected Haematological Tumours Exhausted all Standard of Care Testing and TreatmentNot present in 8.0Not present in 8.0

• linkId: LN/51967-8
• Definition:: ServiceRequest.reasonCode
• Answers: Genomic Clinical Indication Codes

Family History (Family Letter)

• linkId: FamilyHistory
• Answers:

Genomic Test Order's order/test-type-specific detail is captured by structured Ask At Order Entry Questionnaires. A referral has no equivalent structured sub-Questionnaire today: the corresponding detail - who else in the family is affected, the inheritance pattern, degree of relationship of at-risk relatives - travels as free text or an attached document within the unstructured **family letter** (see Genetic Referrals and Cancer Background Information for Use Cases - Genetic Counselling Referral Across Regions), not as discrete data items. A future structured representation could use FamilyMemberHistory per relative (see the FamilyMemberHistory examples on Genomic Test Report), but that is not attempted here.

• linkId: FamilyHistory-designNote
• Answers:

Family Letter / Clinical Details (free text)

• linkId: HL7/NTE-1
• Definition:: ServiceRequest.note
• Answers:

Family Letter (attached document)

• linkId: FamilyHistory/attachment
• Definition:: ServiceRequest.supportingInfo
• Answers:

ServiceRequest.supportingInfo references a DocumentReference (the family letter), whose own DocumentReference.content.attachment.url points at a Binary holding the actual document - the same pattern NHS e-Referral Service (eRS) itself already uses for referral attachments (ReferralRequest.supportingInfo -> DocumentReference) - see Genetic Referrals - eRS FHIR Resource Model.

• linkId: FamilyHistory/attachment-designNote
• Answers:

Supporting Information (Forms and Clinical Documents)

• linkId: SupportingInformation
• Definition:: ServiceRequest.supportingInfo
• Answers:

Clinical content travels as forms and clinical documents referenced from the referral, not copied into it - see Genetic Clinical Referral (logical model) - From Logical Model to Implementation Model.

• linkId: SupportingInformation-designNote
• Answers:

Referral Forms

• linkId: SupportingInformation/forms
• Definition:: ServiceRequest.supportingInfo
• Answers:

Completed referral forms (e.g. a national GMS test order form or a service-specific referral form) as QuestionnaireResponse - structured answers, not a clinical document.

• linkId: SupportingInformation/forms-designNote
• Answers:

Pathology Report

• linkId: SupportingInformation/pathologyReport
• Definition:: ServiceRequest.supportingInfo
• Answers:

Target: a reference to the pathology report as a clinical document shared by the NHS England Single Patient Record (SPR), either a DocumentReference or a FHIR Document Bundle. Interim: an attached PDF - a DocumentReference whose content.attachment.url points at a Binary (HL7 v2 OBX type ED).

• linkId: SupportingInformation/pathologyReport-designNote
• Answers:

Patient Summary

• linkId: SupportingInformation/patientSummary
• Definition:: ServiceRequest.supportingInfo
• Answers:

A clinical document - a DocumentReference or a FHIR Document Bundle, implemented the same way as the Pathology Report. Not part of the NHS England Genomics ServiceRequest specification.

• linkId: SupportingInformation/patientSummary-designNote
• Answers: