Metadata

• linkId: /Metadata
• Answers:

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:: DiagnosticReport.encounter.identifier.value
• Answers:

PV1-19 (also known as stay number)

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

Hospital ServiceAboriginal health serviceAccident and Emergency serviceAcute care hospice serviceAcute care inpatient serviceAcute medicine serviceAcute pain serviceAddiction serviceAdolescent psychiatry serviceAdult chronic pain management serviceAdult cochlear implant serviceAdult cystic fibrosis serviceAdult dermatology serviceAdult diagnostic audiology serviceAdult haematology serviceAdult hearing aid serviceAdult intensive care serviceAdult mental health serviceAdult safeguarding teamAerospace medical serviceAllergy serviceAnaesthetic serviceAnatomic pathology serviceAnticoagulant serviceArt therapy serviceArts therapy servicesAssertive outreach teamAssessment serviceAssistive listening device serviceAudiological screening serviceAudiological serviceAudiovestibular medicine serviceAural rehabilitation serviceAviation and space medicine serviceBacteriology serviceBariatric surgery serviceBehavioural intervention teamBlood and marrow transplantation serviceBlood bank serviceBlood banking and transfusion serviceBreast screening serviceBreast surgery serviceBreast surgical oncology serviceBurns care serviceCancer primary healthcare multidisciplinary teamCardiac physiology serviceCardiac rehabilitation serviceCardiac surgery serviceCardiac ultrasound serviceCardiology serviceCardiothoracic surgery serviceCardiothoracic transplantation serviceChild and adolescent psychiatry serviceChild assessment serviceChild health serviceChild physiotherapy serviceChild psychiatry serviceChild speech and language therapy serviceChiropractic serviceClinical allergy serviceClinical biochemistry serviceClinical genetics serviceClinical haematology serviceClinical immunology and allergy serviceClinical immunology serviceClinical microbiology serviceClinical neurophysiology serviceClinical oncology serviceClinical pathology serviceClinical pharmacology serviceClinical physiology serviceClinical psychology serviceCoagulation serviceCochlear implant serviceColorectal surgery serviceColposcopy serviceCommunity based physiotherapy serviceCommunity child health serviceCommunity health servicesCommunity learning disabilities teamCommunity mental health teamCommunity midwifery serviceCommunity nursing serviceCommunity orthoptics serviceCommunity orthotics serviceCommunity paediatric serviceCommunity rehabilitation serviceCommunity sexual and reproductive health serviceCommunity specialist palliative careCommunity surgical fitting serviceCommunity-based dietetics serviceCommunity-based occupational therapy serviceCommunity-based podiatry serviceCommunity-based speech and language therapy serviceComplementary therapy serviceComplex specialised rehabilitation serviceComputerised tomography serviceCongenital heart disease serviceCounselling serviceCrisis prevention assessment and treatment teamCritical care medicine serviceCritical care physician serviceCytogenetics serviceCytology serviceDance therapy serviceDementia assessment serviceDental hygiene serviceDental medicine serviceDental surgery assistance serviceDental surgery serviceDentistry serviceDermatology serviceDermatopathology serviceDiabetes mellitus serviceDiabetic education serviceDiabetic medicine serviceDiagnostic audiology serviceDiagnostic imaging serviceDiagnostic investigation serviceDialysis serviceDietetics serviceDispensing optometry serviceDistraction test audiological screening serviceDomiciliary physiotherapy serviceDomiciliary visit serviceDrama therapy serviceEar, nose and throat serviceEarly intervention in psychosis teamEarly years servicesEating disorders serviceElderly medicine serviceElectrocardiography serviceEmergency ambulance serviceEmergency medicine serviceEmployee health serviceEndocrine surgery serviceEndocrinology serviceEndodontic serviceEndoscopy serviceFamily planning serviceFetal medicine serviceFNP (Family Nurse Partnership) serviceForensic psychiatry serviceFracture liaison serviceGastroenterology serviceGastrointestinal physiology serviceGastrointestinal surgery serviceGeneral dental surgery serviceGeneral gastrointestinal surgery serviceGeneral internal medical serviceGeneral medical serviceGeneral practice serviceGeneral surgical serviceGenetic laboratory serviceGenitourinary medicine serviceGeriatric chronic pain management serviceGeriatric serviceGynaecological oncology serviceGynaecology serviceHaematology serviceHaemophilia serviceHand surgery serviceHead injury rehabilitation serviceHealth visiting serviceHealthcare servicesHearing aid serviceHearing therapy serviceHepatobiliary and pancreatic surgery serviceHepatobiliary surgical serviceHepatology serviceHistology serviceHistopathology serviceHIV (human immunodeficiency virus) nurse practitioner serviceHIV (human immunodeficiency virus) social work serviceHome hospice serviceHomeopathy serviceHospital orthoptics serviceHospital orthotics serviceHospital surgical fitting serviceHospital-based dietetics serviceHospital-based occupational therapy serviceHospital-based physiotherapy serviceHospital-based podiatry serviceHospital-based speech and language therapy serviceImmunology serviceIndustrial therapy serviceInfectious disease serviceInherited metabolic medicine serviceIntensive care medicine serviceIntensive care serviceIntermediate care serviceInternal medicine serviceInterventional radiology serviceLearning disability serviceLegal medicine serviceLiaison psychiatry serviceLocal specialist rehabilitation serviceMagnetic resonance imaging serviceMaxillofacial surgery serviceMedical microbiology serviceMedical oncology serviceMedical ophthalmology serviceMedical psychotherapy serviceMedical referral serviceMedical virology serviceMedication review serviceMental handicap psychiatry serviceMental health counselling serviceMental health crisis resolution teamMental health dual diagnosis serviceMental health home treatment teamMental health recovery and rehabilitation serviceMental health serviceMidwifery serviceMolecular pathology serviceMusic therapy serviceMycobacteriology serviceMycology serviceNarcotic addiction serviceNarcotic addiction service with chronic pain managementNeonatal audiological screening serviceNeonatal critical care serviceNeonatal intensive care serviceNeonatal serviceNephrology serviceNeurology serviceNeuropathology serviceNeuropsychiatry serviceNeurosurgical serviceNHS 111 serviceNHS 24NHS DirectNuclear medicine serviceNursing serviceObstetric ultrasound serviceObstetrics and gynaecology serviceObstetrics serviceOccupational health serviceOccupational therapy serviceOpen access serviceOphthalmic and vision science serviceOphthalmology serviceOpioid dependence serviceOptometry serviceOral and maxillofacial surgery serviceOral medicine serviceOral microbiology serviceOral pathology serviceOral surgery serviceOrthodontics serviceOrthogeriatric medicine serviceOrthopaedic serviceOrthoptics serviceOrthotics serviceOut of hours servicePaediatric audiological medicine servicePaediatric audiovestibular medicine servicePaediatric burns care servicePaediatric cardiac surgery servicePaediatric cardiology servicePaediatric chronic pain management servicePaediatric clinical genetics servicePaediatric clinical haematology servicePaediatric clinical immunology and allergy servicePaediatric clinical pharmacology servicePaediatric cochlear implant servicePaediatric cystic fibrosis servicePaediatric dentistry servicePaediatric dermatology servicePaediatric diabetes servicePaediatric diabetic medicine servicePaediatric diagnostic audiology servicePaediatric emergency medical servicePaediatric endocrinology servicePaediatric epilepsy servicePaediatric gastroenterology servicePaediatric gastrointestinal surgery servicePaediatric haematology servicePaediatric hearing aid servicePaediatric hepatology servicePaediatric infectious disease servicePaediatric inherited metabolic medicine servicePaediatric intensive care servicePaediatric interventional radiology servicePaediatric maxillofacial surgery servicePaediatric medical oncology servicePaediatric metabolic disease servicePaediatric nephrology servicePaediatric neurodisability servicePaediatric neurology servicePaediatric neurosurgery servicePaediatric oncology servicePaediatric ophthalmology servicePaediatric oral and maxillofacial surgery servicePaediatric otolaryngology servicePaediatric pain management servicePaediatric palliative medicine servicePaediatric plastic surgery servicePaediatric pulmonology servicePaediatric respiratory medicine servicePaediatric respiratory therapy servicePaediatric rheumatology servicePaediatric servicePaediatric surgical servicePaediatric thoracic surgery servicePaediatric transplantation surgery servicePaediatric trauma and orthopaedics servicePaediatric urology servicePain management servicePalliative care servicePalliative medicine servicePancreatic surgery serviceParasitology servicePathology servicePerinatal mental health servicePerinatal psychiatry servicePerinatology servicePeriodontics servicePersonal health record provider servicePharmacy First servicePharmacy servicePhysical medicine and rehabilitation servicePhysical medicine servicePhysiotherapy servicePlastic surgery servicePlay therapy servicePodiatric surgery servicePodiatry servicePost-COVID-19 syndrome servicePostnatal servicePregnancy termination servicePreventive serviceProfessional allied to medicine serviceProgrammed pulmonary rehabilitation serviceProsthetic and orthotic serviceProsthetic serviceProsthodontic servicePsychiatric intensive care servicePsychiatry servicePsychogeriatric servicePsychology servicePsychosomatic medicine servicePsychotherapy servicePublic health dentistry servicePublic health servicePulmonary medicine servicePulmonary rehabilitation serviceRadiation oncology serviceRadiology serviceRadiotherapy serviceRare disease serviceRehabilitation medicine serviceRehabilitation psychiatry serviceRehabilitation serviceRemote triage and advice serviceRespiratory medicine serviceRespiratory physiology serviceRespiratory therapy serviceRespite care serviceRestorative dentistry serviceRheumatology serviceSafeguarding children teamSchool aged immunisation serviceSchool nursing serviceSerology serviceServicesSexual health serviceSleep medicine serviceSocial servicesSocial services department customer servicesSocial services department duty teamSocial services occupational therapy serviceSpecial care baby serviceSpecial care dentistry serviceSpecialist multidisciplinary teamSpecialist palliative careSpecialist rehabilitation serviceSpeech and language therapy serviceSpeech-reading training serviceSpinal injuries serviceSpinal surgery serviceSpine orthopaedic surgery serviceSport and exercise medicine serviceSports medicine serviceStroke medicine serviceStroke serviceSubstance misuse teamSurgical fitting serviceSurgical oncology serviceSurgical pathology serviceSurgical serviceSwallow clinicTelecare monitoring serviceTelehealth monitoring serviceTelehealthcare serviceThoracic surgery serviceTinnitus management serviceToxicology serviceTransgender health serviceTransient ischaemic attack serviceTransplant medicine serviceTransplant surgery serviceTrauma and orthopaedics serviceTrauma surgery serviceTropical medicine serviceUltrasonography serviceUpper gastrointestinal surgery serviceUrological physiology serviceUrology serviceVascular imaging serviceVascular medicine serviceVascular physiology serviceVascular surgery serviceVascular ultrasound serviceVirology serviceVoluntary servicesWell baby serviceWell man serviceWell woman serviceYoung disabled service

• linkId: HL7/PV1-10
• Definition:: Encounter.serviceType
• Answers: Service

Overall study variables type (Test Details)

• linkId: /81306-3
• Answers:

Test request ID/Order ID/Order Placer Number

• linkId: LN/106194-4
• Definition:: ServiceRequest.identifier:OrderIdentifier
• Answers:

Order Filler Number

• linkId: LN/106183-7
• Definition:: ServiceRequest.identifier:OrderFillerNumber
• Answers:

Report Number*

• linkId: HL7/OBR-3
• Definition:: DiagnosticReport.identifier:ReportNumber
• Answers:

Referring Organisation ODS Code / Ordering Facility

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

Report Date*

• linkId: HL7/OBR-7
• Definition:: DiagnosticReport.effectiveDateTime
• Answers:

Report Status*RegisteredPartialPreliminaryFinalAmendedCorrectedAppendedCancelledEntered in ErrorUnknown

• linkId: HL7/OBR-25
• Definition:: DiagnosticReport.status
• Answers: DiagnosticReportStatus

Results Interpreter

• linkId: HL7/OBR-32
• Definition:: DiagnosticReport.resultsInterpreter
• Answers:

OBR-32 (Principal) and OBR-33 (Assistant) - see Practitioner Identifier.

• linkId: HL7/OBR-32-designNote
• Answers:

Performer (Operator/Technician)

• linkId: HL7/OBR-34
• Definition:: DiagnosticReport.performer:operator
• Answers:

Performer (Organisation)

• linkId: DiagnosticReport/performer-organization
• Definition:: DiagnosticReport.performer:organization
• Answers:

The organisation that produced the report - see Organisation Code. No dedicated HL7 v2 field identified for this element.

• linkId: DiagnosticReport/performer-organization-designNote
• Answers:

Specimen/Biopsy

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

Specimen ID Number

• linkId: LN/80398-1
• Definition:: Specimen.identifier
• Answers:

Lab DNA Number (If Known)

• linkId: Specimen/accessionIdentifier
• Definition:: Specimen.accessionIdentifier
• Answers:

Gene dis assessedAcutely 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: /81306-3/51967-8
• Definition:: Observation.valueCodeableConcept
• Answers: Genomic Clinical Indication Codes

Test Code??

• linkId: HL7/OBR-4-r
• Definition:: DiagnosticReport.code
• Answers:

OBR-4, carried on the report. The same code is carried on the order as ServiceRequest.code - see Genomic Test Order.

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

Results

• linkId: /Results
• Definition:: DiagnosticReport.result
• Answers:

Gene analysis narr rpt Doc

• linkId: /81306-3/51969-4
• Definition:: DiagnosticReport.presentedForm
• Answers:

Conclusion

• linkId: DiagnosticReport/conclusion
• Definition:: DiagnosticReport.conclusion
• Answers:

Free-text interpretive summary. No dedicated LOINC/OBX code identified for this element - see the Outcome item below for the coded equivalent.

• linkId: DiagnosticReport/conclusion-designNote
• Answers:

Outcome (NHS England Genomics Test Outcome)RESULT CONSISTENT WITH REFERRAL INDICATIONRESULT PARTIALLY CAUSATIVE OF REFERRAL INDICATIONGENETIC CAUSE WAS NOT FOUNDRESULT OF UNCERTAIN SIGNIFICANCEVARIANT DETECTEDVARIANT NOT DETECTEDFAMILY MEMBER TESTED TO AID INTERPRETATION OF PROBAND’S TEST; NOT INDEPENDENTLY ANALYSEDVARIANT(S) DETECTEDVARIANT(S) NOT DETECTEDONCOGENIC/LIKELY ONCOGENIC VARIANT DETECTED CONTRIBUTING TO THE SUSPECTED DIAGNOSISONCOGENIC/LIKELY ONCOGENIC VARIANT DETECTED WHICH CONTRIBUTES TO AN ALTERNATIVE DIAGNOSISNO ONCOGENIC/LIKELY ONCOGENIC VARIANT DETECTED WHICH REDUCES LIKELIHOOD BUT DOES NOT EXCLUDE (DIFFERENTIAL) DIAGNOSIS/DIAGNOSESVARIANT DETECTED – WHERE A TARGETED TREATMENT IS AVAILABLE OR WHERE PROGNOSTIC/ACTIONABLE INFORMATION IS PROVIDEDWILDTYPE RESULT OBTAINED – WHERE THE ABSENCE OF A VARIANT MEANS TARGETED TREATMENT IS NOT AVAILABLEWILDTYPE RESULT OBTAINED – WHERE THE ABSENCE OF A VARIANT MEANS TARGETED TREATMENT IS AVAILABLE OR WHERE PROGNOSTIC/ACTIONABLE INFORMATION IS PROVIDEDTARGET DETECTED AT A LEVEL REQUIRING CLINICAL ACTIONNO TARGET DETECTED OR TARGET DETECTED BELOW A LEVEL REQUIRING CLINICAL ACTIONACTIONABLE PHARMACOGENOMIC VARIANT DETECTEDNO ACTIONABLE PHARMACOGENOMIC VARIANT DETECTEDFAILUREONCOGENIC/LIKELY ONCOGENIC VARIANT DETECTED IN GENE NOT ASSOCIATED WITH TUMOUR TYPE/INCIDENTAL FINDINGOTHER (NOT LISTED)CAVEATED RESULT

• linkId: /81306-3/TESTOUTCOME
• Definition:: DiagnosticReport.conclusionCode.coding:GenomicTestOutcomeCode
• Answers: Genomic Test Outcome Codes

Individual test results are carried as separate, panel-specific Questionnaires nested under DiagnosticReport.result - see Report Panels below for the full list (e.g. Reportable Variant Result Panel, BCR-ABL Monitoring Result Panel, Chimerism Testing Result Panel).

• linkId: /Results/ReportPanels
• Answers: