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:: ServiceRequest.encounter.identifier.value
• Answers:

PV1-19 (also known as stay number)

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

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:

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 assessedThoracic aortic aneurysm or dissectionDiagnostic testing for known mutation(s)Childhood onset hereditary spastic paraplegiaNot present in 8.0Newborn screening for sickle cell disease in a transfused babySickle cell, thalassaemia and other haemoglobinopathiesNot present in 8.0Autoinflammatory DisordersMonogenic hearing lossMonogenic diabetesGlucokinase-related fasting hyperglycaemiaAtypical haemolytic uraemic syndromeThyroid Papillary Carcinoma - AdultEndometrial CancerM4Inherited MMR deficiency (Lynch syndrome)Cystic fibrosis carrier

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

Test Code??

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

Results

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

Gene analysis narr rpt Doc

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

Simple var pnl

• linkId: /81250-3
• Answers:

NHS England Genomics Test OutcomeRESULT 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:: Observation.valueCodeableConcept
• Answers: Genomic Test Outcome Codes