Patient

• linkId: Patient
• Definition:: Patient
• 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:

Date of death

• linkId: LN/81954-0
• Definition:: Patient.deceasedDateTime
• Answers:

Address

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

Address Line

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

City

• linkId: HL7/PID-11-3
• Definition:: Patient.address.city
• Answers:

Postcode

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

Sex registered at birthMaleFemaleOtherUnknown

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

Ethnic CategoryAsian or Asian British - Any other Asian backgroundAsian or Asian British - BangladeshiAsian or Asian British - IndianAsian or Asian British - PakistaniBlack or Black British - AfricanBlack or Black British - Any other Black backgroundBlack or Black British - CaribbeanMixed - Any other mixed backgroundMixed - White and AsianMixed - White and Black AfricanMixed - White and Black CaribbeanOther Ethnic Groups - Any other ethnic groupWhite - Any other White backgroundWhite - BritishWhite - IrishArabChineseGypsy or Irish TravellerSouth East AsianNorthern EuropeanJewish NOSGypsy/Traveller/ Irish TravellerGypsy/TravellerRomaAshkenazi Jew, follower of religion (person)Prefer not to say

• linkId: LN/32624-9
• Definition:: Patient.extension:ethnicCategory
• Answers: Ethnicity

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:

Age at collection (ignore for FHIR)

• linkId: ageAtCollection
• Answers:

Location

• linkId: LN/89009-5
• Definition:: Encounter.location
• Answers:

GP Surgery (ODS Code)??

• linkId: HL7/PD1-3
• Definition:: Patient.generalPractitioner
• Answers:

Healthcare Professional

• linkId: HealthcareProfessional
• Definition:: PractitionerRole
• Answers:

Referring Clinician Name*

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

Referring Clinician Current Speciality*General 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 / Ordering Facility

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

Test Request

• linkId: TestRequest
• Definition:: ServiceRequest
• Answers:

Test CategoryRare and inherited diseases Genetic Testing (procedure)Pre Natal Genetic Testing (procedure)Haemoglobinopathy Genetic Testing (procedure)Cancer Genetic Testing (procedure)Storage of specimen (procedure)

• linkId: SNM/15220000
• Definition:: ServiceRequest.category
• Answers: Order Category

Test Code (Rare and inherited diseases)*Acutely unwell children with a likely monogenic disorder (WGS)Primary immunodeficiency or monogenic inflammatory bowel disease (WGS)Primary immunodeficiency or monogenic inflammatory bowel disease (WES)Severe combined immunodeficiency with adenosine deaminase deficiency (Single gene sequencing >=10 amplicons)Lymphoproliferative syndrome with absent SAP expression (Single gene sequencing <10 amplicons)Haemophagocytic syndrome with absent XIAP expression (Single gene sequencing >=10 amplicons)Autoimmune lymphoproliferative syndrome with defective apoptosis (Single gene sequencing >=10 amplicons)Wiskott-Aldrich syndrome (Single gene sequencing >=10 amplicons)Fetal anomalies with a likely genetic cause (Common aneuploidy testing)Fetal anomalies with a likely genetic cause (Large Panel)Fetal anomalies with a likely genetic cause (Microarray)Fetus with a likely chromosomal abnormality (Common aneuploidy testing)Fetus with a likely chromosomal abnormality (Microarray)Apert syndrome (Targeted variant testing)Achondroplasia (Targeted variant testing)Thanatophoric dysplasia (Single gene sequencing >=10 amplicons)Likely common aneuploidy (Common aneuploidy testing)Paediatric disorders (WGS)Congenital malformation and dysmorphism syndromes (Microarray)Bilateral congenital or childhood onset cataracts (WGS)Retinal disorders (WGS)Possible X-linked retinitis pigmentosa (Targeted variant testing)Structural eye disease (WGS)Sporadic aniridia (Small panel)Albinism or congenital nystagmus (WES or Medium panel)Optic neuropathy (WES or Medium panel)Optic neuropathy (Targeted variant testing)Leber hereditary optic neuropathy (Targeted variant testing)Leber hereditary optic neuropathy (Other)Blepharophimosis ptosis and epicanthus inversus (Single gene sequencing <10 amplicons)Blepharophimosis ptosis and epicanthus inversus (MLPA or equivalent)Blepharophimosis ptosis and epicanthus inversus (STR testing)Stickler syndrome (Small panel)Congenital fibrosis of the extraocular muscles (Small panel)Angelman syndrome (Methylation testing)Prader-Willi syndrome (Methylation testing)Beckwith-Wiedemann syndrome (Methylation testing)Beckwith-Wiedemann syndrome (Single gene sequencing >=10 amplicons)Isolated hemihypertrophy or macroglossia (Methylation testing)Short stature - SHOX deficiency (MLPA or equivalent)Short stature - SHOX deficiency (Single gene sequencing <10 amplicons)Hereditary ataxia with onset in adulthood (WGS)Hereditary ataxia with onset in adulthood (STR testing)Hereditary ataxia with onset in childhood (WGS)Adult onset dystonia, chorea or related movement disorder (WGS)Childhood onset dystonia, chorea or related movement disorder (WGS)Adult onset hereditary spastic paraplegia (WGS)Childhood onset hereditary spastic paraplegia (WGS)Adult onset leukodystrophy (WGS)Possible mitochondrial disorder - nuclear genes (WES or Large Panel)MELAS or MIDD (Targeted variant testing)Aminoglycoside exposure posing risk to hearing (Targeted variant testing)Paroxysmal central nervous system disorders (WES or Medium Panel)Monogenic hearing loss (WES or Large Panel)Huntington disease (STR testing)Hypotonic infant (WGS)Spinal muscular atrophy type 1 diagnostic test (MLPA or equivalent)Spinal muscular atrophy type 1 rare variant testing (Single gene sequencing >=10 amplicons)Myotonic dystrophy type 1 (STR testing)Duchenne or Becker muscular dystrophy (Single gene sequencing >=10 amplicons)Duchenne or Becker muscular dystrophy (MLPA or equivalent)Facioscapulohumeral muscular dystrophy (Other)Oculopharyngeal muscular dystrophy (STR testing)Skeletal muscle channelopathy (Small panel)Hereditary neuropathy - PMP22 copy number (MLPA or equivalent)Hereditary neuropathy or pain disorder (WGS)Hereditary neuropathy or pain disorder (STR testing)Congenital muscular dystrophy (WES or Medium Panel)Congenital myaesthenic syndrome (WES or Medium Panel)Congenital myopathy (WES or Medium Panel)Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies (WES or Medium Panel)Arthrogryposis (WGS)Cerebellar anomalies (WGS)Holoprosencephaly - NOT chromosomal (WGS)Hydrocephalus (WGS)Cerebral malformation (WGS)Severe microcephaly (WGS)Ultra-rare and atypical monogenic disorders (WGS)Bleeding and platelet disorders (WES or Medium Panel)Cytopenia - NOT Fanconi anaemia (WES or Medium Panel)Cytopenia - NOT Fanconi anaemia (MLPA or equivalent)Rare anaemia (MLPA or equivalent)Rare anaemia (Small panel)Rare anaemia (WES or Medium Panel)Sickle cell, thalassaemia and other haemoglobinopathies (MLPA or equivalent)Sickle cell, thalassaemia and other haemoglobinopathies (Small panel)Iron overload - hereditary haemochromatosis testing (Targeted variant testing)Iron metabolism disorders - NOT common HFE variants (Small panel)Thrombophilia with a likely monogenic cause (WES or Small Panel)Likely inborn error of metabolism (WGS)Likely inborn error of metabolism (WES)Common craniosynostosis syndromes (Small panel)Common craniosynostosis syndromes (Exon level CNV detection by MLPA or equivalent)Rare syndromic craniosynostosis or isolated multisuture synostosis (WGS)Ehlers Danlos syndrome with a likely monogenic cause (WES or Medium Panel)Osteogenesis imperfecta (WES or Medium Panel)Skeletal dysplasia (WGS)Skeletal dysplasia (Small panel)MCADD - Medium-chain acyl-CoA dehydrogenase deficiency – common variant newborn screening follow up (Targeted variant testing)Alstrom syndrome (Single gene sequencing >=10 amplicons)Bardet Biedl syndrome (Small panel)Childhood onset leukodystrophy (WGS)Segmental overgrowth disorders - Deep sequencing (Small panel)X-inactivation testing (X-inactivation testing)Factor II deficiency (Single gene sequencing >=10 amplicons)Factor V deficiency (Single gene sequencing >=10 amplicons)Factor V deficiency (MLPA or equivalent)Factor VII deficiency (Single gene sequencing >=10 amplicons)Factor VII deficiency (MLPA or equivalent)Factor VIII deficiency (Targeted variant testing)Factor VIII deficiency (Single gene sequencing >=10 amplicons)Factor VIII deficiency (MLPA or equivalent)Factor IX deficiency (Single gene sequencing >=10 amplicons)Factor IX deficiency (MLPA or equivalent)Factor X deficiency (Single gene sequencing <10 amplicons)Factor X deficiency (MLPA or equivalent)Factor XI deficiency (Single gene sequencing >=10 amplicons)Factor XI deficiency (MLPA or equivalent)von Willebrand disease (Single gene sequencing >=10 amplicons)von Willebrand disease (MLPA or equivalent)Factor XIII deficiency (Small panel)Combined vitamin K-dependent clotting factor deficiency (Small panel)Combined factor V and VIII deficiency (Small panel)Thoracic aortic aneurysm or dissection (WES or Medium Panel)Long QT syndrome (Small panel)Brugada syndrome and cardiac sodium channel disease (Small panel)Catecholaminergic polymorphic VT (Small panel)Short QT syndrome (Small panel)Hypertrophic cardiomyopathy (WES or Medium Panel)Dilated and Arrhythmogenic cardiomyopathy (WES or Medium Panel)Arrhythmogenic right ventricular cardiomyopathy (Small panel)Familial hypercholesterolaemia (Small panel)Paediatric or syndromic cardiomyopathy (WGS)Paediatric or syndromic cardiomyopathy (WES)Primary lymphoedema (WES or Medium Panel)Congenital heart disease - microarray (Microarray)Sudden unexplained death or survivors of a cardiac event (WES or Medium Panel)Laterality disorders and isomerism (WES or Medium Panel)Elastin-related phenotypes (Single gene sequencing >=10 amplicons)Monogenic diabetes (WES or Medium Panel)Glucokinase-related fasting hyperglycaemia (Single gene sequencing >=10 amplicons)Neonatal diabetes (Small panel)Neonatal diabetes (Methylation testing)Neonatal diabetes (WGS)Congenital hyperinsulinism (Small panel)Congenital hyperinsulinism (Small panel)Congenital hypothyroidism (WES or Medium panel)Differences in sex development (Microarray)Differences in sex development (WES or Medium Panel)Hypogonadotropic hypogonadism (Medium panel)Severe early-onset obesity (WES or Medium panel)Congenital adrenal hypoplasia (Small panel)Familial hyperparathyroidism or Hypocalciuric hypercalcaemia (Small panel)Familial hypoparathyroidism (Small panel)Hypophosphataemia or rickets (Small panel)Autoimmune Polyendocrine Syndrome (Single gene sequencing >=10 amplicons)Carney complex (Single gene sequencing >=10 amplicons)IPEX - Immunodysregulation Polyendocrinopathy and Enteropathy, X-Linked (Single gene sequencing >=10 amplicons)Severe insulin resistance and lipodystrophy syndromes (Medium panel)Pituitary hormone deficiency (WES or Medium panel)Primary pigmented nodular adrenocortical disease (Small panel)Familial tumoral calcinosis (Small panel)Ectodermal dysplasia (WES or Medium panel)Epidermolysis bullosa and congenital skin fragility (WES or Medium Panel)Ichthyosis and erythrokeratoderma (WES or Medium panel)Palmoplantar keratodermas (WES or Medium panel)Autosomal recessive primary hypertrophic osteoarthropathy (Small panel)Non-acute porphyrias (Small panel)Acute intermittent porphyria (Single gene sequencing >=10 amplicons)Variegate porphyria (Single gene sequencing >=10 amplicons)Cholestasis (WES or Medium Panel)Wilson disease (Single gene sequencing >=10 amplicons)Polycystic liver disease (WES or Small Panel)Pancreatitis (Small panel)Gilbert syndrome (Targeted variant testing)Congenital adrenal hyperplasia diagnostic test (Single gene sequencing >=10 amplicons)Congenital adrenal hyperplasia diagnostic test (MLPA or equivalent)Congenital adrenal hyperplasia carrier testing (Single gene sequencing >=10 amplicons)Congenital adrenal hyperplasia carrier testing (MLPA or equivalent)Hyperthyroidism (Small panel)Glucocorticoid-remediable aldosteronism (GRA) (Targeted variant testing)Cystic fibrosis diagnostic test (Targeted variant testing)Cystic fibrosis diagnostic test (Single gene sequencing >=10 amplicons)Cystic fibrosis diagnostic test (MLPA or equivalent)Cystic fibrosis carrier testing (Targeted variant testing)Hereditary haemorrhagic telangiectasia (Small panel)Pulmonary arterial hypertension (Small panel)Respiratory ciliopathies including non-CF bronchiectasis (WES or Medium Panel)Pneumothorax - familial (Small panel)Alpha-1-antitrypsin deficiency (Targeted variant testing)Cystic renal disease (WGS)Haematuria (Small panel)Proteinuric renal disease (WGS)CFHR5 nephropathy (MLPA or equivalent)Membranoproliferative glomerulonephritis including C3 glomerulopathy (Small panel)Membranoproliferative glomerulonephritis including C3 glomerulopathy (MLPA or equivalent)Renal tubulopathies (WES or Medium Panel)Congenital anomalies of the kidney and urinary tract - familial (Microarray)Atypical haemolytic uraemic syndrome (Small panel)Tubulointerstitial kidney disease (Small panel)Hereditary Systemic Amyloidosis (Small panel)Inherited ovarian cancer (without breast cancer) (Small panel)Inherited breast cancer and ovarian cancer (Small panel)Inherited MMR deficiency (Lynch syndrome) (Small panel)Inherited MMR deficiency (Lynch syndrome) (Methylation testing)Inherited MMR deficiency (Lynch syndrome) (MLPA or equivalent)Inherited polyposis and early onset colorectal cancer - germline testing (Small panel)Inherited polyposis and early onset colorectal cancer - germline testing (MLPA or equivalent)Peutz Jeghers Syndrome (Single gene sequencing >=10 amplicons)PTEN Hamartoma Tumor Syndrome (Single gene sequencing >=10 amplicons)Nevoid Basal Cell Carcinoma Syndrome or Gorlin syndrome (Small panel)Hereditary diffuse gastric cancer (Small panel)Li Fraumeni Syndrome (Small panel)Endocrine neoplasia (Small panel)Multiple endocrine neoplasia type 2 (Single gene sequencing >=10 amplicons)Retinoblastoma (Single gene sequencing >=10 amplicons)Retinoblastoma (MLPA or equivalent)Familial tumours of the nervous system (Small panel)Familial tumours of the nervous system (MLPA or equivalent)Neurofibromatosis type 1 (Small panel)Neurofibromatosis type 1 (MLPA or equivalent)Inherited phaeochromocytoma and paraganglioma excluding NF1 (Small panel)Inherited renal cancer (Small panel)Von Hippel Lindau syndrome (Single gene sequencing >=10 amplicons)Inherited parathyroid cancer (Single gene sequencing >=10 amplicons)Xeroderma pigmentosum, Trichothiodystrophy or Cockayne syndrome (Small panel)Xeroderma pigmentosum, Trichothiodystrophy or Cockayne syndrome (DNA repair defect testing)Tuberous sclerosis (Small panel)Tuberous sclerosis (MLPA or equivalent)Tuberous sclerosis (Small panel - deep sequencing)Confirmed Fanconi anaemia or Bloom syndrome - variant testing (Small panel)Multiple monogenic benign skin tumours (Small panel)Neuronal ceroid lipofuscinosis (Small panel)Haemophagocytic syndrome with absent perforin expression (Single gene sequencing <10 amplicons)Agammaglobulinaemia with absent BTK expression (Single gene sequencing >=10 amplicons)Severe combined immunodeficiency with PNP deficiency (Single gene sequencing <10 amplicons)SCID with features of gamma chain deficiency (Single gene sequencing <10 amplicons)Pigmentary skin disorders (WES or Large panel)Pigmentary skin disorders (MLPA or equivalent)Cutaneous photosensitivity with a likely genetic cause (Small panel)Incontinentia pigmenti (Single gene sequencing >=10 amplicons)Incontinentia pigmenti (Targeted variant testing)Diagnostic testing for known variant(s) (Targeted variant testing)Predictive testing for known familial variant(s) (Targeted variant testing)Carrier testing for known familial variant(s) (Targeted variant testing)Carrier testing at population risk for partners of known carriers of nationally agreed autosomal recessive disorders (Single gene sequencing >=10 amplicons)NIPD using paternal exclusion testing for very rare conditions where familial variant is known (NIPD)NIPD for congenital adrenal hyperplasia - CYP21A2 haplotype testing (NIPD)Non-invasive prenatal sexing (NIPD)SMA carrier testing at population risk for partners of known carriers (MLPA or equivalent)Cystic fibrosis newborn screening follow-up (Targeted variant testing)Familial melanoma (Small panel)Epidermodysplasia verruciformis (Small panel)Nephrocalcinosis or nephrolithiasis (WES or Medium Panel)Unexplained young onset end-stage renal disease (WGS)Unexplained young onset end-stage renal disease (WES)Cytopenia - Fanconi breakage testing indicated (DNA repair defect testing)Cytopenia - Fanconi breakage testing indicated (Small Panel)Nijmegen breakage syndrome (DNA repair defect testing)Nijmegen breakage syndrome (Single gene sequencing >=10 amplicons)Fanconi anaemia or Bloom syndrome - chromosome breakage testing (DNA repair defect testing)Corneal dystrophy (WES or Medium panel)Confirmation of uniparental disomy (UPD testing)Identity testing (Identity testing)Chromosomal mosaicism - karyotype (Karyotype)Kagami-Ogata syndrome - paternal uniparental disomy 14 (Methylation testing)Smith-Lemli-Opitz syndrome (Single gene sequencing >=10 amplicons)Smith-Lemli-Opitz syndrome (MLPA or equivalent)Neuronal ceroid lipofuscinosis type 2 (Single gene sequencing >=10 amplicons)Gaucher disease (Single gene sequencing >=10 amplicons)Glycogen storage disease V (Single gene sequencing >=10 amplicons)Glycogen storage disease (WES or Medium Panel)Glutaric acidaemia I newborn screening follow up (Single gene sequencing >=10 amplicons)Lysosomal storage disorder (WES or Medium Panel)Mucopolysaccharidosis type IH/S (Single gene sequencing >=10 amplicons)Mucopolysaccharidosis type II (Single gene sequencing >=10 amplicons)Mucopolysaccharidosis type II (Targeted variant testing)Isovaleric acidaemia newborn screening follow up (Targeted variant testing)Krabbe disease – GALC deficiency (Single gene sequencing >=10 amplicons)Krabbe disease – GALC deficiency (MLPA or equivalent)Krabbe disease - Saposin A deficiency (Single gene sequencing >=10 amplicons)Niemann-Pick disease type A or B (Single gene sequencing >=10 amplicons)Phenylketonuria (Single gene sequencing >=10 amplicons)Sandhoff disease (Single gene sequencing >=10 amplicons)Tay-Sachs disease (Single gene sequencing >=10 amplicons)Mucopolysaccharidosis type IVA (Single gene sequencing >=10 amplicons)GM1 Gangliosidosis and Mucopolysaccharidosis Type IVB (Single gene sequencing >=10 amplicons)Mucolipidosis II and III Alpha/Beta (Single gene sequencing >=10 amplicons)Mucopolysaccharidosis type VI (Single gene sequencing >=10 amplicons)Mucopolysaccharidosis type IIIA (Single gene sequencing >=10 amplicons)Mucopolysaccharidosis type IIIB (Single gene sequencing >=10 amplicons)Albright hereditary osteodystrophy, pseudohypoparathyroidism, pseudopseudohypoparathyroidism, acrodysostosis and osteoma cutis (Small panel)Albright hereditary osteodystrophy, pseudohypoparathyroidism, pseudopseudohypoparathyroidism, acrodysostosis and osteoma cutis (Methylation testing)Ataxia telangiectasia - DNA repair testing (DNA repair defect testing)Ataxia telangiectasia - variant testing (Single gene sequencing >=10 amplicons)RNA analysis of variants (Other)Possible structural or mosaic chromosomal abnormality - FISH (FISH)Possible mitochondrial disorder - mitochondrial DNA rearrangement testing (Other)Possible mitochondrial disorder - mitochondrial DNA rearrangement testing (Other)Possible mitochondrial disorder - mitochondrial DNA rearrangement testing (Other)Possible mitochondrial disorder - whole mitochondrial genome sequencing (Other)Possible mitochondrial disorder - mitochondrial DNA depletion testing (Other)NIPD for cystic fibrosis - haplotype testing (NIPD)NIPD for cystic fibrosis - variant testing (NIPD)NIPD for Apert syndrome - variant testing (NIPD)NIPD for Crouzon syndrome with acanthosis nigricans - variant testing (NIPD)NIPD for FGFR2-related craniosynostosis syndromes - variant testing (NIPD)NIPD for FGFR3-related skeletal dysplasias - variant testing (NIPD)NIPD for Duchenne and Becker muscular dystrophy - haplotype testing (NIPD)NIPD for spinal muscular atrophy - variant testing (NIPD)Parental sequencing for lethal autosomal recessive disorders (WES or Large panel)Neutropaenia consistent with ELANE variants (Single gene sequencing <10 amplicons)Ambiguous genitalia (Common aneuploidy testing)Ambiguous genitalia (Karyotype)POLG-related disorder (Targeted variant testing)POLG-related disorder (Single gene sequencing >=10 amplicons)Pyruvate dehydrogenase (PDH) deficiency (WES or Medium panel)Mitochondrial liver disease, including transient infantile liver failure (Small panel)Recurrent miscarriage with products of conception available for testing (Common aneuploidy testing)Recurrent miscarriage with products of conception available for testing (Microarray)Calcium-sensing receptor phenotypes (Single gene sequencing >=10 amplicons)Invasive prenatal diagnosis requiring fetal sexing (Common aneuploidy testing)Maternal cell contamination testing (Identity testing)Skin fibroblasts to be cultured and stored (Other)Sitosterolaemia (Small panel)Familial Chylomicronaemia Syndrome (FCS) (Small panel)Lysosomal acid lipase deficiency (Single gene sequencing >=10 amplicons)Vascular skin disorders (WES or Medium panel)Mosaic skin disorders - deep sequencing (Medium panel)Progressive cardiac conduction disease (WES or Small Panel)Familial dysalbuminaemic hyperthyroxinaemia (Single gene sequencing >=10 amplicons)Alveolar capillary dysplasia with misalignment of pulmonary veins (Single gene sequencing >=10 amplicons)Intestinal failure or congenital diarrhoea (WES or Small Panel)Rare genetic inflammatory skin disorders (WES or Medium panel)Central congenital hypoventilation (STR testing)Central congenital hypoventilation (Single gene sequencing >=10 amplicons)Cystinosis (Single gene sequencing >=10 amplicons)Fabry disease (Single gene sequencing <10 amplicons)Fabry disease (MLPA or equivalent)Cerebral vascular malformations (WES or Medium Panel)CADASIL (Single gene sequencing >=10 amplicons)Monitoring for G(M)CSF escape variants (Single gene sequencing >=10 amplicons)Amelogenesis imperfecta (WES or Medium panel)Hereditary angioedema types I and II (Single gene sequencing >=10 amplicons)Chromosomal mosaicism - microarray (Microarray)Primary hyperaldosteronism - KCNJ5 (Single gene sequencing <10 amplicons)Facioscapulohumeral muscular dystrophy - extended testing (Methylation testing)Facioscapulohumeral muscular dystrophy - extended testing (Single gene sequencing >=10 amplicons)Facioscapulohumeral muscular dystrophy - extended testing (Other)DNA to be stored (Other)Inherited predisposition to acute myeloid leukaemia (AML) (Small panel)MERRF syndrome (Targeted variant testing)NARP syndrome or maternally inherited Leigh syndrome (Single gene sequencing <10 amplicons)NARP syndrome or maternally inherited Leigh syndrome (Targeted variant testing)Mitochondrial DNA maintenance disorder (WES or Medium Panel)Mitochondrial disorder with complex I deficiency (WES or Medium Panel)Mitochondrial disorder with complex II deficiency (WES or Small Panel)Mitochondrial disorder with complex III deficiency (WES or Small Panel)Mitochondrial disorder with complex IV deficiency (WES or Medium Panel)Mitochondrial disorder with complex V deficiency (WES or Small Panel)Sickle cell, thalassaemia and other haemoglobinopathies trait or carrier testing (Small panel)Sickle cell, thalassaemia and other haemoglobinopathies trait or carrier testing (MLPA or equivalent)Inherited predisposition to GIST (Small panel)DICER1-related cancer predisposition (Single gene sequencing >=10 amplicons)Fumarate hydratase-related tumour syndromes (Single gene sequencing >=10 amplicons)Inherited susceptibility to acute lymphoblastoid leukaemia (ALL) (Small panel)Inherited pancreatic cancer (Small panel)Hereditary angioedema type III (Targeted variant testing)Validation of unaccredited findings (Targeted variant testing)Malignant hyperthermia (small panel)Newborn screening for sickle cell disease in a transfused baby (Targeted variant testing)RNA to be stored (Other)Other sample to be stored (Other)Family follow-up testing to aid variant interpretation (Targeted variant testing)Segmental or atypical neurofibromatosis type 1 testing (Single gene sequencing >=10 amplicons)Segmental or atypical neurofibromatosis type 1 testing (MLPA or equivalent)Niemann Pick disease type C (Small panel)Niemann Pick disease type C (MLPA or equivalent)Other rare neuromuscular disorders (WGS)Hypochondroplasia (Targeted variant testing)Linkage testing for Huntington disease (Other)Generalised arterial calcification in infancy (Small panel)Reanalysis of existing data (Other)NIPD - pre-pregnancy test work-up (NIPD)Multiple exostoses (Small panel)Multiple exostoses (MLPA or equivalent)Barth syndrome (Single gene sequencing >=10 amplicons)Mitochondrial neurogastrointestinal encephalopathy (Single gene sequencing >=10 amplicons)Thiamine metabolism dysfunction syndrome 2 (Single gene sequencing <10 amplicons)Mitochondrial Complex V deficiency, TMEM70 type (Single gene sequencing <10 amplicons)Maternally inherited cardiomyopathy (Targeted variant testing)Common aneuploidy testing - prenatal (Common aneuploidy testing)Premature ovarian insufficiency (Karyotype or equivalent)Premature ovarian insufficiency (STR testing)MCADD - Medium-chain acyl-CoA dehydrogenase deficiency – full ACADM sequencing newborn screening follow up (Single gene sequencing <10 amplicons)Testing of unaffected individuals for inherited cancer predisposition syndromes (Single gene sequencing >=10 amplicons)Testing of unaffected individuals for inherited cancer predisposition syndromes (Small panel)Hereditary Erythrocytosis (Small panel)Thrombocythaemia (Small panel)Linkage testing for other recognisable Mendelian disorders (Linkage analysis)Myotonic dystrophy type 2 (DM2) (STR testing)Y chromosome microdeletion (Targeted variant testing or equivalent)Fetal anomalies with a likely genetic cause - non urgent (WES or Large Panel)Autoinflammatory Disorders (WES or Medium panel)APC associated Polyposis (Single gene sequencing >=10 amplicons)Syndromic and non syndromic craniosynostosis involving midline sutures (Single gene sequencing <10 amplicons)Multi Locus Imprinting Disorder (MLID) (MLPA)Multi Locus Imprinting Disorder (MLID) (Small panel)Acute Rhabdomyolysis (Medium panel)Pseudoxanthoma elasticum (Small panel)Pulmonary Fibrosis, Familial (Medium panel)BAP1 associated tumour predisposition syndrome (Single gene sequencing >=10 amplicons)NIPD for Retinoblastoma - haplotype testing (NIPD)Subcutaneous panniculitis T-cell lymphoma (SPTCL) (Single gene sequencing <10 amplicons)Pulmonary alveolar microlithiasis (Single gene sequencing >=10 amplicons)Patient receiving solid organ transplantation (only in cases where passenger lymphocyte syndrome is suspected) (STR testing)Patient receiving solid organ transplantation (only in cases where passenger lymphocyte syndrome is suspected) (FISH)Inherited prostate cancer (Small panel)Genome-wide DNA Methylation Profiling to Aid Variant Interpretation (Methylation testing)Monogenic diabetes, subtype glucokinase - NIPT (NIPD)Hereditary alpha tryptasaemia (Targeted variant testing)Paediatric pseudo-obstruction syndrome (WES or Medium panel)Hereditary isolated diabetes insipidus (Small panel)Unexplained death in infancy and sudden unexplained death in childhood (WGS)Variant re-interpretation (Targeted variant testing)Confirmation test (Targeted variant testing)NICE approved PARP inhibitor treatment (Small panel)NICE approved PARP inhibitor treatment (Small panel)T21, T18 and T13 aneuploidy testing - NIPT (previous history) (NIPT)APOL1 kidney donor testing (Targeted variant testing)Validation of WGS Diagnostic discovery (Targeted variant testing)Prenatal testing (Targeted variant testing)Diagnostic testing for Glutaric acidaemia I (Single gene sequencing >=10 amplicons)Diagnostic testing for Isovaleric acidaemia (Single gene sequencing >=10 amplicons)Diagnostic testing for MCADD - Medium-chain acyl-CoA dehydrogenase deficiency – full ACADM sequencing (Single gene sequencing <10 amplicons)Silver russell syndrome and Temple Syndrome (Methylation testing)Monogenic short stature (WES or Medium panel)Mavacamten for treating symptomatic obstructive hypertrophic cardiomyopathy (Targeted variant testing)Embryonal tumour of possible germline origin (WES or Medium Panel)Embryonal tumour of possible germline origin (Methylation testing)Sarcoma of possible germline origin (Small Panel)Young onset or familial dementia (WGS)Young onset or complex Parkinson disease (WGS)Amyotrophic lateral sclerosis (WGS)Cerebral amyloid angiopathy (WGS)Childhood interstitial lung disease (Medium Panel)Cytogenetic characterisation of a genomic abnormality – Karyotype or Targeted Chromosome Analysis (Karyotype)Recurrent miscarriage where products of conception are not available for testing - parental karyotype (Karyotype)Familial cytogenetic rearrangement - Karyotype or Targeted Chromosome Analysis (Karyotype)Unexplained infertility - karyotype (Karyotype)Gamete donors - karyotype (Karyotype)Possible sex chromosome aneuploidy or structural rearrangement – Targeted Chromosome Analysis (Karyotype)T21, T18, and T13 aneuploidy testing - NIPT NHS Fetal Anomaly Screening Programme (FASP) (NIPT)Neurodegenerative Disorders, adult onset – Prenatal Exclusion Testing (Linkage analysis)Neurodegenerative Disorders, adult onset – Prenatal Exclusion Testing (Linkage analysis)Neurodegenerative Disorders, adult onset – Prenatal Exclusion Testing (Linkage analysis)Neurodegenerative Disorders, adult onset – Prenatal Exclusion Testing (Linkage analysis)

• linkId: HL7/OBR-4-r
• Definition:: ServiceRequest.code
• Enable When: todo
• Answers: Genomic Rare and Inherited Disease Test Directory

Test Code (Haemoglobinopathy)*??

• linkId: HL7/OBR-4-h
• Definition:: ServiceRequest.code
• Enable When: todo
• Answers:
• Answers: 5 options

Test Code (Cancer)*Colorectal Carcinoma, Multi-target NGS panel - small variant (KRAS, NRAS, BRAF)Colorectal Carcinoma, KRAS hotspotColorectal Carcinoma, NRAS hotspotColorectal Carcinoma, MSI TestingColorectal Carcinoma, MLH1 promoter hypermethylationColorectal Carcinoma, Multi-target NGS panel - structural variant (NTRK1, NTRK2, NTRK3)Colorectal Carcinoma, DPYD hotspotColorectal Carcinoma, Multi-target NGS panel - small variant (MLH1, MSH2, MSH6, PMS2, POLE, POLD1)Ovarian Carcinoma, Multi-target NGS panel - small variant (BRCA1, BRCA2, SMARCA4)Ovarian Carcinoma, Multi-target NGS panel - structural variant (NTRK1, NTRK2, NTRK3)Ovarian Carcinoma, HRD status (either positive for BRCA 1 and/or 2, or HRD positive)Breast Cancer, Multi-target NGS panel - structural variant (NTRK1, NTRK2, NTRK3)Breast Cancer, Multi-target NGS panel - small variant (PIK3CA, AKT1, PTEN (SNV & CNV))Breast Cancer, DPYD hotspotBreast Cancer, ETV6-NTRK3 FISH/RT-PCRBreast Cancer, Tumour profiling tests to guide adjuvant chemotherapy decisions in early breast cancerBreast Cancer, Multi-target ctDNA NGS panel - small variant (ESR1, PIK3CA, AKT1, PTEN (SNV & CNV))Non-Small Cell Lung Cancer, Multi-target NGS panel - small variant (EGFR, ALK, BRAF, KRAS, MET)Non-Small Cell Lung Cancer, Multi-target NGS panel - structural variant (ROS1, RET, EML4-ALK, NTRK1, NTRK1, NTRK3, MET)Non-Small Cell Lung Cancer, Multi-target NGS panel - copy number variant (MET)Non-Small Cell Lung Cancer, EGFR hotspot tumourNon-Small Cell Lung Cancer, EGFR hotspot ctDNANon-Small Cell Lung Cancer, ROS1 rearrangement FISH/RT-PCRNon-Small Cell Lung Cancer, RET rearrangement FISH/RT-PCNon-Small Cell Lung Cancer, MET copy number FISHNon-Small Cell Lung Cancer, EML4-ALK FISH/RT-PCRNon-Small Cell Lung Cancer, ALK hotspot cDNANon-Small Cell Lung Cancer, Combined Multi-target NGS panel - small variant (EGFR, ALK, BRAF, KRAS, MET exon 14 skipping) and structural variant (ROS1, RET, ALK, NTRK1, NTRK2, NTRK3, MET exon 14 skipping)Non-Small Cell Lung Cancer, Multi-target ctDNA combined Multi-target NGS panel - small variant (EGFR, ALK, BRAF, KRAS, MET exon 14 skipping and copy number variations) and structural variant (ROS1, RET, ALK, NTRK1, NTRK2, NTRK3, MET exon 14 skipping)Mesothelioma, CDKN2A copy number FISHMesothelioma, Multi-target NGS panel - structural variant (NTRK1, NTRK2, NTRK3)Mesothelioma, Multi-target NGS panel - copy number variant (CDKN2A)Mucoepidermoid Carcinoma, MAML2 rearrangement FISHMucoepidermoid Carcinoma, Multi-target NGS panel - structural variant (MAML2, NTRK1, NTRK2, NTRK3)Mucoepidermoid Carcinoma, Multi-target NGS panel - structural variant (MAML2)Mucoepidermoid Carcinoma, DPYD hotspotMelanoma - Adult, Multi-target NGS panel - small variant (BRAF, KIT, NRAS)Melanoma - Adult, BRAF hotspotMelanoma - Adult, Multi-target NGS panel - structural variant (NTRK1, NTRK2, NTRK3)Melanoma - Adult, MYB & 6cenMelanoma - Adult, RREB1 (6p25)Melanoma - Adult, CCND1 (11q13)Melanoma - Adult, MYC & 8cenMelanoma - Adult, CDKN2A & 9cenMelanoma - Adult, Copy number variant detection to genomewide resolutionGastrointestinal Stromal Tumour, Multi-target NGS panel - small variant (KIT, PDGFRA)Gastrointestinal Stromal Tumour, Multi-target NGS panel - structural variant (NTRK1, NTRK2, NTRK3)Thyroid Papillary Carcinoma - Adult, Multi-target NGS panel - small variant (BRAF, KRAS, NRAS, HRAS, TERT promoter)Thyroid Papillary Carcinoma - Adult, Multi-target NGS panel - structural variant (RET, NTRK1, NTRK2, NTRK3)Thyroid Papillary Carcinoma - Adult, RET rearrangement FISH/RT-PCThyroid Papillary Carcinoma - Adult, Multi-target NGS panel - structural variant (NTRK1, NTRK2, NTRK3)Thyroid Papillary Carcinoma - Adult, TERT promoter hotspotThyroid Follicular Carcinoma, Multi-target NGS panel - small variant (KRAS, NRAS, HRAS)Thyroid Follicular Carcinoma, Multi-target NGS panel - structural variant (NTRK1, NTRK2, NTRK3, RET)Poorly Differentiated Anaplastic Thyroid Carcinoma, Multi-target NGS panel - small variant (TP53, BRAF)Poorly Differentiated Anaplastic Thyroid Carcinoma, Multi-target NGS panel - copy number variant (TP53)Poorly Differentiated Anaplastic Thyroid Carcinoma, del(17p) TP53 copy number FISHPoorly Differentiated Anaplastic Thyroid Carcinoma, Multi-target NGS panel - structural variant (NTRK1, NTRK2, NTRK3, RET, ALK)Thyroid Medullary Carcinoma, Multi-target NGS panel - small variant (RET)Thyroid Medullary Carcinoma, Multi-target NGS panel - structural variant (NTRK1, NTRK2, NTRK3)Phaeochromocytoma, Multi-target NGS panel - small variant (RET)Phaeochromocytoma, Multi-target NGS panel - structural variant (NTRK1, NTRK2, NTRK3)Adrenal Cortical Carcinoma, Multi-target NGS panel - small variant (TP53)Adrenal Cortical Carcinoma, Multi-target NGS panel - copy number variant (TP53)Adrenal Cortical Carcinoma, del(17p) TP53 copy number FISHAdrenal Cortical Carcinoma, Multi-target NGS panel - structural variant (NTRK1, NTRK2, NTRK3)Adrenal Cortical Carcinoma, DPYD hotspotHead and Neck Squamous Cell Carcinoma, Multi-target NGS panel - small variant (CDKN2A, EGFR, TP53)Head and Neck Squamous Cell Carcinoma, Multi-target NGS panel - structural variant (RET, NTRK1, NTRK2, NTRK3)Head and Neck Squamous Cell Carcinoma, Multi-target NGS panel - copy number variant (CDKN2A, TP53Head and Neck Squamous Cell Carcinoma, RET rearrangement FISH/RT-PCHead and Neck Squamous Cell Carcinoma, del(17p) TP53 copy number FISHHead and Neck Squamous Cell Carcinoma, Multi-target NGS panel - structural variant (NTRK1, NTRK2, NTRK3)Head and Neck Squamous Cell Carcinoma, DPYD hotspotAdenoid Cystic Carcinoma, MYB-NFIB FISH/RT-PCRAdenoid Cystic Carcinoma, Multi-target NGS panel - structural variant (MYB-NFIB, NTRK1, NTRK2, NTRK3)Adenoid Cystic Carcinoma, DPYD hotspotSecretory Carcinoma (Salivary Gland), ETV6-NTRK3 FISH/RT-PCRSecretory Carcinoma (Salivary Gland), Multi-target NGS panel - structural variant (NTRK1, NTRK2, NTRK3)Secretory Carcinoma (Salivary Gland), DPYD hotspotRenal Cell Carcinoma - Adult, TFE3 rearrangement FISH/RT-PCRRenal Cell Carcinoma - Adult, Multi-target NGS panel small variant (FH, SDHA, SDHB, SDHC, SDHD, VHL, ELOC (TCEB-1), TSC1/2, MET, BRAF)Renal Cell Carcinoma - Adult, Chromosome 3 FISHRenal Cell Carcinoma - Adult, Chromosome 8 FISHRenal Cell Carcinoma - Adult, Chromosome 7 & 17 FISHRenal Cell Carcinoma - Adult, Multi-target NGS panel - structural variant (NTRK1, NTRK2, NTRK3, TFE3, TFEB)Renal Cell Carcinoma - Adult, TFEB rearrangement FISH/RT-PCRAlveolar Rhabdomyosarcoma, FOXO1 rearrangement FISHAlveolar Rhabdomyosarcoma, PAX3-FOXO1 rearrangement FISH or RT-PCRAlveolar Rhabdomyosarcoma, PAX7-FOXO1 rearrangement FISH or RT-PCRAlveolar Rhabdomyosarcoma, WGS Germline and TumourAlveolar Rhabdomyosarcoma, Multi-target NGS panel - structural variant (FOXO1, PAX3-FOXO1, PAX7-FOXO1 NTRK1, NTRK2, NTRK3)Alveolar Soft Part Sarcoma, TFE3 rearrangement FISH/RT-PCRAlveolar Soft Part Sarcoma, WGS Germline and TumourAlveolar Soft Part Sarcoma, Multi-target NGS panel - structural variant (TFE3, NTRK1, NTRK2, NTRK3)Aneurysmal Bone Cyst, USP6 rearrangement FISHAneurysmal Bone Cyst, Multi-target NGS panel - structural variant (USP6)Angiomatoid Fibrous Histiocytoma, EWSR1 rearrangement FISH or RT-PCRAngiomatoid Fibrous Histiocytoma, FUS rearrangement FISHAngiomatoid Fibrous Histiocytoma, WGS Germline and TumourAngiomatoid Fibrous Histiocytoma, Multi-target NGS panel - structural variant (EWSR1, FUS, NTRK1, NTRK2, NTRK3)Chondrosarcoma Conventional Central, Multi-target NGS panel - small variant (IDH1, IDH2)Chondrosarcoma Conventional Central, WGS Germline and TumourChondrosarcoma Conventional Central, Multi-target NGS panel - structural variant (NTRK1, NTRK2, NTRK3)Chondroblastoma, SNP ArrayChondroblastoma, WGS Germline and TumourChondroblastoma, Multi-target NGS panel - structural variant (NTRK1, NTRK2, NTRK3)Clear Cell Sarcoma of Soft Tissue, EWSR1 rearrangement FISH or RT-PCRClear Cell Sarcoma of Soft Tissue, WGS Germline and TumourClear Cell Sarcoma of Soft Tissue, Multi-target NGS panel - structural variant (EWSR1, NTRK1, NTRK2, NTRK3)CNS Ewing Sarcoma Family Tumour With CIC Alteration, Multi-target NGS panel - structural variant (CIC, NTRK1, NTRK2, NTRK3)CNS Ewing Sarcoma Family Tumour With CIC Alteration, WGS Germline and TumourDermatofibrosarcoma Protuberans, COL1A1-PDGFB rearrangement FISHDermatofibrosarcoma Protuberans, WGS Germline and TumourDermatofibrosarcoma Protuberans, Multi-target NGS panel - structural variant (COL1A1-PDGFB, NTRK1, NTRK2, NTRK3)Desmoid-Type Fibromatosis, Multi-target NGS panel - small variant (APC, CTNNB1)Desmoplastic Small Round Cell Tumour, WT1 rearrangement FISH or RT-PCRDesmoplastic Small Round Cell Tumour, WGS Germline and TumourDesmoplastic Small Round Cell Tumour, Multi-target NGS panel - structural variant (WT1, NTRK1, NTRK2, NTRK3)Endometrial Stromal Sarcoma, EPC1-PHF1 rearrangement FISHEndometrial Stromal Sarcoma, JAZF1-PHF1 rearrangement FISHEndometrial Stromal Sarcoma, JAZF1-SUZ12 rearrangement FISH or RT-PCREndometrial Stromal Sarcoma, WGS Germline and TumourEndometrial Stromal Sarcoma, Multi-target NGS panel - structural variant (EPC1-PHF1, JAZF1-PHF1, JAZF1-SUZ12, NTRK1, NTRK2, NTRK3, ZC3H7B-BCOR)Endometrial Stromal Sarcoma, ZC3H7B-BCOR rearrangment FISH/RT-PCREpithelioid Haemangioendothelioma, WWTR1-CAMTA1 RT-PCREpithelioid Haemangioendothelioma, Multi-target NGS panel - structural variant (WWTR1-CAMTA1)Ewing Like Sarcoma/PNET, Multi-target NGS panel - structural variant (BCOR, BCOR-CCNB3, NTRK1, NTRK2, NTRK3)Ewing Like Sarcoma/PNET, BCOR-CCNB3 RT-PCREwing Like Sarcoma/PNET, WGS Germline and TumourEwing Sarcoma of Bone, EWSR1 rearrangement FISH or RT-PCREwing Sarcoma of Bone, WGS Germline and TumourEwing Sarcoma of Bone, Multi-target NGS panel - structural variant (EWSR1, NTRK1, NTRK2, NTRK3)Ewing-Like Soft-Tissue Sarcoma, Multi-target NGS panel - structural variant (BCOR, BCOR-CCNB3, NTRK1, NTRK2, NTRK3)Ewing-Like Soft-Tissue Sarcoma, BCOR-CCNB3 RT-PCREwing-Like Soft-Tissue Sarcoma, WGS Germline and TumourExtraskeletal Myxoid Chondrosarcoma, NR4A3 rearrangement FISH or RT-PCRExtraskeletal Myxoid Chondrosarcoma, WGS Germline and TumourExtraskeletal Myxoid Chondrosarcoma, Multi-target NGS panel - structural variant (NR4A3, NTRK1, NTRK2, NTRK3)Fibrous Dysplasia/Myxomas (Mazabraud Syndrome), Multi-target NGS panel - small variant (GNAS)Giant Cell Tumour of Bone, H3-3A hotspotGiant Cell Tumour of Bone, WGS Germline and TumourGiant Cell Tumour of Bone, Multi-target NGS panel - structural variant (NTRK1, NTRK2, NTRK3)High-Grade Neuroepithelial Tumour-Bcor Group, Multi-target NGS panel - structural variant (BCOR, BCOR-CCNB3, NTRK1, NTRK2, NTRK3)High-Grade Neuroepithelial Tumour-Bcor Group, BCOR-CCNB3 RT-PCRHigh-Grade Neuroepithelial Tumour-Bcor Group, WGS Germline and TumourInfantile Fibrosarcoma, ETV6-NTRK3 RT-PCR or FISHInfantile Fibrosarcoma, WGS Germline and TumourInfantile Fibrosarcoma, Multi-target NGS panel - structural variant (ETV6-NTRK3, NTRK1, NTRK2, NTRK3)Inflammatory Myofibroblastic Tumour, TPM4-ALK FISH/RT-PCRInflammatory Myofibroblastic Tumour, TPM3-ALK FISH/RT-PCRInflammatory Myofibroblastic Tumour, Multi-target NGS panel - structural variant (ALK, TPM4-ALK, TPM3-ALK, NTRK1, NTRK2, NTRK3)Inflammatory Myofibroblastic Tumour, WGS Germline and TumourLow Grade Fibromyxoid Sarcoma, FUS rearrangement FISH or RT-PCRLow Grade Fibromyxoid Sarcoma, WGS Germline and TumourLow Grade Fibromyxoid Sarcoma, Multi-target NGS panel - structural variant (FUS, NTRK1, NTRK2, NTRK3)Mesenchymal Chondrosarcoma, HEY1-NCOA2 RT-PCRMesenchymal Chondrosarcoma, WGS Germline and TumourMesenchymal Chondrosarcoma, Multi-target NGS panel - structural variant (HEY1-NCOA2, NTRK1, NTRK2, NTRK3)Myoepithelial Tumours of Soft Tissue, EWSR1 rearrangement FISH or RT-PCRMyoepithelial Tumours of Soft Tissue, WGS Germline and TumourMyoepithelial Tumours of Soft Tissue, Multi-target NGS panel - structural variant (EWSR1, NTRK1, NTRK2, NTRK3)Myxoid/Round Cell Liposarcoma, DDIT3 rearrangement FISH or RT-PCRMyxoid/Round Cell Liposarcoma, WGS Germline and TumourMyxoid/Round Cell Liposarcoma, Multi-target NGS panel - structural variant (DDIT3, MDM2, NTRK1, NTRK2, NTRK3)Myxoid/Round Cell Liposarcoma, MDM2 amplification FISHMyxoinflammatory Fibroblastic Sarcoma, TGFBR3-OGA FISH/RT-PCRMyxoinflammatory Fibroblastic Sarcoma, WGS Germline and TumourMyxoinflammatory Fibroblastic Sarcoma, MDM2 copy number FISHMyxoinflammatory Fibroblastic Sarcoma, Multi-target NGS panel - structural variant (TGFBR3-OGA, NTRK1, NTRK2, NTRK3)Myxoinflammatory Fibroblastic Sarcoma, Multi-target NGS panel - copy number variant (MDM2)Nodular Fasciitis, USP6 rearrangement FISHNodular Fasciitis, Multi-target NGS panel - structural variant (USP6)Osteosarcoma, MDM2 copy number FISHOsteosarcoma, WGS Germline and TumourOsteosarcoma, Multi-target NGS panel - structural variant (NTRK1, NTRK2, NTRK3)Osteosarcoma, Multi-target NGS panel - copy number variant (MDM2)Phosphaturic Mesenchymal Tumour, FN1 rearrangement FISHPhosphaturic Mesenchymal Tumour, WGS Germline and TumourPhosphaturic Mesenchymal Tumour, Multi-target NGS panel - structural variant (FN1, NTRK1, NTRK2, NTRK3)Primitive Mesenchymal Myxoid Tumour of Infancy, Multi-target NGS panel - structural variant (BCOR, BCOR-CCNB3, NTRK1, NTRK2, NTRK3)Primitive Mesenchymal Myxoid Tumour of Infancy, BCOR-CCNB3 RT-PCRPrimitive Mesenchymal Myxoid Tumour of Infancy, WGS Germline and TumourPseudomyogenic Haemangioendothelioma, SERPINE1-FOSB FISH/RT-PCRPseudomyogenic Haemangioendothelioma, WGS Germline and TumourPseudomyogenic Haemangioendothelioma, Multi-target NGS panel - structural variant (SERPINE1-FOSB, NTRK1, NTRK2, NTRK3)Radiation Induced Angiosarcoma, MYC copy number FISHRadiation Induced Angiosarcoma, WGS Germline and TumourRadiation Induced Angiosarcoma, Multi-target NGS panel - structural variant (NTRK1, NTRK2, NTRK3)Radiation Induced Angiosarcoma, Multi-target NGS panel - copy number variant (MYC)Round Cell Sarcoma Nos, Multi-target NGS panel - structural variant (BCOR, CIC, BCOR-CCNB3, NTRK1, NTRK2, NTRK3)Round Cell Sarcoma Nos, BCOR-CCNB3 RT-PCRRound Cell Sarcoma Nos, WGS Germline and TumourSclerosing Epithelioid Fibrosarcoma, FUS rearrangement FISH or RT-PCRSclerosing Epithelioid Fibrosarcoma, WGS Germline and TumourSclerosing Epithelioid Fibrosarcoma, Multi-target NGS panel - structural variant (FUS, NTRK1, NTRK2, NTRK3)Synovial Sarcoma, SS18 rearrangement FISH or RT-PCRSynovial Sarcoma, WGS Germline and TumourSynovial Sarcoma, Multi-target NGS panel - structural variant (SS18, NTRK1, NTRK2, NTRK3)Undifferentiated Round Cell Sarcoma of Infancy, Multi-target NGS panel - structural variant (CIC, NTRK1, NTRK2, NTRK3)Undifferentiated Round Cell Sarcoma of Infancy, WGS Germline and TumourWell Differentiated/Dedifferentiated Liposarcoma, MDM2 amplification FISHWell Differentiated/Dedifferentiated Liposarcoma, WGS Germline and TumourWell Differentiated/Dedifferentiated Liposarcoma, Multi-target NGS panel - structural variant (NTRK1, NTRK2, NTRK3)Well Differentiated/Dedifferentiated Liposarcoma, Multi-target NGS panel - copy number variant (MDM2, DDIT3)Well Differentiated/Dedifferentiated Liposarcoma, DDIT3 copy number FISHWell Differentiated/Dedifferentiated Liposarcoma, DDIT3 copy number RT-PCR/ddPCRPaediatric Tumours, WGS Germline and TumourPaediatric Tumours, Multi-target NGS panel - structural variant (NTRK1, NTRK2, NTRK3)Paediatric Tumours, DPYD hotspotPaediatric Tumours, Multi-target NGS-small variant (ABL1, ACVR1, AKT1, ALK, AMER1, APC, ARID1A, ARID1B, ASXL1, ATM, ATR, ATRX, BARD1, BBC3, BCOR, BRAF, BRCA1, BRCA2, BRIP1, CCND1, CCND2, CCNE1, CDK12, CDK4, CDK6, CDKN1A, CDKN2A, CDKN2B, CHEK1, CHEK2, CIC, CREBBP, CTNNB1, DAXX, DDX3X, DICER1, DROSHA, EGFR, EMSY, EPHB2, ERBB2, EZH2, FANCI, FANCL, FBXW7, FGFR1, FGFR2, FGFR3, FGFR4, GPR161, H3F3A, HIST1H3B, HIST1H3C, HIST2H3C, HRAS, IDH1, IDH2, IGF1R, KIAA1549 (CNV), KIT, KMT2A, KRAS, LIN28B, MAP2K1, MAP2K2, MAPK1, MDM2, MDM4, MET, MLH1, MRE11A, MSH2, MSH6, MYC, MYCL, MYCN, MYOD1, NF1, NF2, NRAS, PALB2, PDGFRA, PHOX2B, PIK3CA, PIK3R1, PIN1, PMS1, PMS2, PPM1D, PPP2R2A, PRKAR1A, PTCH1, PTCH2, PTEN, PTPN11, RAD51B, RAD51C, RAD51D, RAD54L, RAF1, RB1, RET, SETD2, SMARCA4, SMARCB1, SMARCE1, SMO, SUFU, TERT, TFE3, TP53, TSC1, TSC2, VHL, WT1, YAP1, YWHAE (CNV))Clear Cell Kidney Sarcoma - Paediatric, Multi-target NGS panel - small variant (BCOR)Clear Cell Kidney Sarcoma - Paediatric, BCOR seqClear Cell Kidney Sarcoma - Paediatric, BCOR copy number FISHClear Cell Kidney Sarcoma - Paediatric, BCOR rearrangement FISHClear Cell Kidney Sarcoma - Paediatric, NUTM2B-YWHAE FISH/RT-PCRClear Cell Kidney Sarcoma - Paediatric, NUTM2E-YWHAE FISH/RT-PCRClear Cell Kidney Sarcoma - Paediatric, NUTM1-YWHAE FISH/RT-PCRClear Cell Kidney Sarcoma - Paediatric, YWHAE copy number FISHClear Cell Kidney Sarcoma - Paediatric, WGS Germline and TumourClear Cell Kidney Sarcoma - Paediatric, Multi-target NGS panel - structural variant (BCOR, NUTM2B-YWHAE, NUTM2E-YWHAE, NUTM1-YWHAE, NTRK1, NTRK2, NTRK3)Clear Cell Kidney Sarcoma - Paediatric, Multi-target NGS panel - copy number variant (BCOR, YWHAE)Congenital Mesoblastic Nephroma - Paediatric, NTRK3-ETV6 FISH/RT-PCRCongenital Mesoblastic Nephroma - Paediatric, WGS Germline and TumourCongenital Mesoblastic Nephroma - Paediatric, Multi-target NGS panel - structural variant (NTRK3-ETV6, NTRK1, NTRK2, NTRK3)Cystic Nephroma - Paediatric, Multi-target NGS panel - small variant (DICER1)Cystic Nephroma - Paediatric, DICER1 seqCystic Nephroma - Paediatric, DICER1 copy number FISHCystic Nephroma - Paediatric, WGS Germline and TumourCystic Nephroma - Paediatric, Multi-target NGS panel - structural variant (NTRK1, NTRK2, NTRK3)Cystic Nephroma - Paediatric, Multi-target NGS panel - copy number variant (DICER1)Lung - Paediatric, Multi-target NGS panel - small variant (H3-3A, H3-3B)Lung - Paediatric, H3-3A seqLung - Paediatric, H3-3B seqLung - Paediatric, WGS Germline and TumourLung - Paediatric, Multi-target NGS panel - structural variant (NTRK1, NTRK2, NTRK3)Melanotic Tumours - Paediatric, Multi-target NGS panel - small variant (NRAS)Melanotic Tumours - Paediatric, WGS Germline and TumourMelanotic Tumours - Paediatric, Multi-target NGS panel - structural variant (NTRK1, NTRK2, NTRK3)Midline Carcinoma - Paediatric, NUTM1-BRD2 FISH/RT-PCRMidline Carcinoma - Paediatric, NUTM1-BRD3 FISH/RT-PCRMidline Carcinoma - Paediatric, NUTM1-BRD4 FISH/RT-PCRMidline Carcinoma - Paediatric, NUTM1-CIC FISH/RT-PCRMidline Carcinoma - Paediatric, WGS Germline and TumourMidline Carcinoma - Paediatric, Multi-target NGS panel - structural variant (NUTM1-BRD2, NUTM1-BRD3, NUTM1-BRD4, NUTM1-CIC, NTRK1, NTRK2, NTRK3)Neuroblastoma - Paediatric, SNP ArrayNeuroblastoma - Paediatric, Multi-target NGS panel - small variant (ALK, ATRX, FGFR1, MYCN, NRAS, PHOX2B, TP53)Neuroblastoma - Paediatric, ALK seqNeuroblastoma - Paediatric, FGFR1 seqNeuroblastoma - Paediatric, PHOX2B seqNeuroblastoma - Paediatric, TP53 seqNeuroblastoma - Paediatric, MYCN copy number FISHNeuroblastoma - Paediatric, ALK copy number FISHNeuroblastoma - Paediatric, 17q copy number FISHNeuroblastoma - Paediatric, 17q rearrangement FISHNeuroblastoma - Paediatric, 11q copy number FISHNeuroblastoma - Paediatric, 1p36 copy number FISHNeuroblastoma - Paediatric, ALK rearrangement FISHNeuroblastoma - Paediatric, WGS Germline and TumourNeuroblastoma - Paediatric, MYCN seqNeuroblastoma - Paediatric, Multi-target NGS panel - structural variant (17q, ALK, NTRK1, NTRK2, NTRK3)Neuroblastoma - Paediatric, Multi-target NGS panel - copy number variant (MYCN, ALK, 17q, 11q, 1p36)Neuroblastoma - Paediatric, DNA MethylationNeuroblastoma - Paediatric, TERT promoter rearrangement FISHThyroid Papillary Carcinoma - Paediatric, Multi-target NGS panel - small variant (RET)Thyroid Papillary Carcinoma - Paediatric, RET seqThyroid Papillary Carcinoma - Paediatric, Multi-target NGS panel - structural variant (RET, NTRK1, NTRK2, NTRK3)Thyroid Papillary Carcinoma - Paediatric, RET rearrangement FISH/RT-PCThyroid Papillary Carcinoma - Paediatric, WGS Germline and TumourPleuropulmonary Blastoma - Paediatric, Multi-target NGS panel - small variant (DICER1)Pleuropulmonary Blastoma - Paediatric, DICER1 seqPleuropulmonary Blastoma - Paediatric, DICER1 copy number FISHPleuropulmonary Blastoma - Paediatric, WGS Germline and TumourPleuropulmonary Blastoma - Paediatric, Multi-target NGS panel - structural variant (NTRK1, NTRK2, NTRK3)Pleuropulmonary Blastoma - Paediatric, Multi-target NGS panel - copy number variant (DICER1)Renal Tumours - Paediatric, Multi-target NGS panel - small variant (CTNNB1, DAXX, ATRX)Renal Tumours - Paediatric, ATRX seqRenal Tumours - Paediatric, CTNNB1 seqRenal Tumours - Paediatric, DAXX seqRenal Tumours - Paediatric, ATRX copy number FISHRenal Tumours - Paediatric, WGS Germline and TumourRenal Tumours - Paediatric, Multi-target NGS panel - structural variant (NTRK1, NTRK2, NTRK3)Renal Tumours - Paediatric, Multi-target NGS panel - copy number variant (ATRX)Retinoblastoma - Paediatric, Multi-target NGS panel - small variant (RB1)Retinoblastoma - Paediatric, WGS Germline and TumourRetinoblastoma - Paediatric, Multi-target NGS panel - structural variant (NTRK1, NTRK2, NTRK3)Retinoblastoma - Paediatric, DNA MethylationRhabdoid Tumours - Paediatric, Multi-target NGS panel - small variant (SMARCB1)Rhabdoid Tumours - Paediatric, SMARCB1 seqRhabdoid Tumours - Paediatric, SMARCB1 copy number FISHRhabdoid Tumours - Paediatric, WGS Germline and TumourRhabdoid Tumours - Paediatric, Multi-target NGS panel - structural variant (NTRK1, NTRK2, NTRK3)Rhabdoid Tumours - Paediatric, Multi-target NGS panel - copy number variant (SMARCB1)t(6;11) Translocation-Associated Renal Cell Carcinoma - Paediatric, TFEB-MALAT1 FISH/RT-PCRt(6;11) Translocation-Associated Renal Cell Carcinoma - Paediatric, WGS Germline and Tumourt(6;11) Translocation-Associated Renal Cell Carcinoma - Paediatric, Multi-target NGS panel - structural variant (TFEB-MALAT1, NTRK1, NTRK2, NTRK3)Testicular - Paediatric, Multi-target NGS panel - small variant (PRKAR1A)Testicular - Paediatric, PRKAR1A seqTesticular - Paediatric, WGS Germline and TumourTesticular - Paediatric, Multi-target NGS panel - structural variant (NTRK1, NTRK2, NTRK3)Wilms Tumours - Paediatric, Multi-target NGS panel - small variant (DROSHA)Wilms Tumours - Paediatric, DROSHA seqWilms Tumours - Paediatric, WGS Germline and TumourWilms Tumours - Paediatric, Multi-target NGS panel - structural variant (NTRK1, NTRK2, NTRK3)Xp11.2 Translocation-Associated Renal Cell Carcinoma - Paediatric, Multi-target NGS panel - small variant (TFE3)Xp11.2 Translocation-Associated Renal Cell Carcinoma - Paediatric, TFE3 seqXp11.2 Translocation-Associated Renal Cell Carcinoma - Paediatric, TFE3-ASPSCR1 FISH/RT-PCRXp11.2 Translocation-Associated Renal Cell Carcinoma - Paediatric, TFE3-MITF FISH/RT-PCRXp11.2 Translocation-Associated Renal Cell Carcinoma - Paediatric, TFE3-PRCC FISH/RT-PCRXp11.2 Translocation-Associated Renal Cell Carcinoma - Paediatric, WGS Germline and TumourXp11.2 Translocation-Associated Renal Cell Carcinoma - Paediatric, Multi-target NGS panel - structural variant (TFE3-ASPSCR1, TFE3-MITF, TFE3-PRCC, NTRK1, NTRK2, NTRK3)Uveal melanoma, 1p, 3, 6, 8 MLPAUveal melanoma, BRAF hotspotUveal melanoma, Multi-target NGS panel - small variant (BRAF, NRAS, NF1)Uveal melanoma, Multi-target NGS panel - structural variant (NTRK1, NTRK2, NTRK3)Bone Forming Soft Tissue Tumour Differential, MDM2 copy number FISHBone Forming Soft Tissue Tumour Differential, USP6 rearrangement FISHBone Forming Soft Tissue Tumour Differential, WGS Germline and TumourBone Forming Soft Tissue Tumour Differential, Multi-target NGS panel - structural variant (USP6, NTRK1, NTRK2, NTRK3)Bone Forming Soft Tissue Tumour Differential, Multi-target NGS panel - copy number variant (MDM2)Round Cell Sarcoma of Soft Tissue Differential, Multi-target NGS panel - structural variant (BCOR, CIC, DDIT3, EWSR1, FOXO1, WT1, BCOR-CCNB3, HEY1-NCOA2, PAX3-FOXO1, PAX7-FOXO1, NTRK1, NTRK2, NTRK3)Round Cell Sarcoma of Soft Tissue Differential, DDIT3 rearrangement FISH or RT-PCRRound Cell Sarcoma of Soft Tissue Differential, EWSR1 rearrangement FISH or RT-PCRRound Cell Sarcoma of Soft Tissue Differential, FOXO1 rearrangement FISH or RT-PCRRound Cell Sarcoma of Soft Tissue Differential, WT1 rearrangement FISH or RT-PCRRound Cell Sarcoma of Soft Tissue Differential, BCOR-CCNB3 RT-PCRRound Cell Sarcoma of Soft Tissue Differential, HEY1-NCOA2 RT-PCRRound Cell Sarcoma of Soft Tissue Differential, PAX3-FOXO1 rearrangement FISH or RT-PCRRound Cell Sarcoma of Soft Tissue Differential, PAX7-FOXO1 rearrangement FISH or RT-PCRRound Cell Sarcoma of Soft Tissue Differential, WGS Germline and TumourVascular Soft Tissue Tumour Differential, MYC copy number FISHVascular Soft Tissue Tumour Differential, SERPINE1-FOSB FISH/RT-PCRVascular Soft Tissue Tumour Differential, WWTR1-CAMTA1 RT-PCRVascular Soft Tissue Tumour Differential, WGS Germline and TumourVascular Soft Tissue Tumour Differential, Multi-target NGS panel - structural variant (SERPINE1-FOSB, WWTR1-CAMTA1, NTRK1, NTRK2, NTRK3)Vascular Soft Tissue Tumour Differential, Multi-target NGS panel - copy number variant (MYC)Spindle Cell Soft Tissue Tumour Differential, Multi-target NGS panel - small variant (APC, CTNNB1)Spindle Cell Soft Tissue Tumour Differential, Multi-target NGS panel - structural variant (ALK, BCOR, CIC, EWSR1, FUS, SS18, USP6, COL1A1-PDGFB, TPM3-ALK, TPM4-ALK, ETV6-NTRK3, NTRK1, NTRK2, NTRK3)Spindle Cell Soft Tissue Tumour Differential, EWSR1 rearrangement FISH or RT-PCRSpindle Cell Soft Tissue Tumour Differential, FUS rearrangement FISHSpindle Cell Soft Tissue Tumour Differential, MDM2 copy number FISHSpindle Cell Soft Tissue Tumour Differential, SS18 rearrangement FISH or RT-PCRSpindle Cell Soft Tissue Tumour Differential, USP6 rearrangement FISHSpindle Cell Soft Tissue Tumour Differential, COL1A1-PDGFB rearrangement FISHSpindle Cell Soft Tissue Tumour Differential, TPM3-ALK FISH/RT-PCRSpindle Cell Soft Tissue Tumour Differential, TPM4-ALK FISH/RT-PCRSpindle Cell Soft Tissue Tumour Differential, ETV6-NTRK3 RT-PCRSpindle Cell Soft Tissue Tumour Differential, WGS Germline and TumourSpindle Cell Soft Tissue Tumour Differential, Multi-target NGS panel - copy number variant (MDM2)Myxoid Soft Tissue Tumour Differential, Multi-target NGS panel - structural variant (BCOR, DDIT3, FUS, NR4A3, TGFBR3-OGA, BCOR-CCNB3, NTRK1, NTRK2, NTRK3)Myxoid Soft Tissue Tumour Differential, DDIT3 rearrangement FISH or RT-PCRMyxoid Soft Tissue Tumour Differential, FUS rearrangement FISH or RT-PCRMyxoid Soft Tissue Tumour Differential, NR4A3 rearrangement FISH or RT-PCRMyxoid Soft Tissue Tumour Differential, TGFBR3-OGA FISH/RT-PCRMyxoid Soft Tissue Tumour Differential, BCOR-CCNB3 RT-PCRMyxoid Soft Tissue Tumour Differential, WGS Germline and TumourAdipocytic Soft Tissue Tumour Differential, DDIT3 rearrangement FISH or RT-PCRAdipocytic Soft Tissue Tumour Differential, MDM2 copy number FISHAdipocytic Soft Tissue Tumour Differential, WGS Germline and TumourAdipocytic Soft Tissue Tumour Differential, Multi-target NGS panel - structural variant (DDIT3, NTRK1, NTRK2, NTRK3)Adipocytic Soft Tissue Tumour Differential, Multi-target NGS panel - copy number variant (MDM2)Epithelioid Soft Tissue Tumour Differential, EWSR1 rearrangement FISH or RT-PCREpithelioid Soft Tissue Tumour Differential, FUS rearrangement FISH or RT-PCREpithelioid Soft Tissue Tumour Differential, SS18 rearrangement FISH or RT-PCREpithelioid Soft Tissue Tumour Differential, TFE3 rearrangement FISH/RT-PCREpithelioid Soft Tissue Tumour Differential, WWTR1-CAMTA1 RT-PCREpithelioid Soft Tissue Tumour Differential, WGS Germline and TumourEpithelioid Soft Tissue Tumour Differential, Multi-target NGS panel - structural variant (EWSR1, FUS, SS18, TFE3, WWTR1-CAMTA1, NTRK1, NTRK2, NTRK3)Uterine Sarcomas (Inc Endometrial), EPC1-PHF1 rearrangement FISHUterine Sarcomas (Inc Endometrial), JAZF1-PHF1 rearrangement FISHUterine Sarcomas (Inc Endometrial), JAZF1-SUZ12 rearrangement FISHUterine Sarcomas (Inc Endometrial), NUTM2B-YWHAE FISH/RT-PCRUterine Sarcomas (Inc Endometrial), WGS Germline and TumourUterine Sarcomas (Inc Endometrial), Multi-target NGS panel - structural variant (EPC1-PHF1, JAZF1-PHF1, JAZF1-SUZ12, NUTM2B-YWHAE, NTRK1, NTRK2, NTRK3)Undifferentiated tumour, WGS Germline and TumourUndifferentiated tumour, Multi-target NGS panel - structural variant (NTRK1, NTRK2, NTRK3)Cartilage Forming Bone Tumour Differential, Multi-target NGS panel - small variant (H3-3A, H3-3B, IDH1, IDH2)Cartilage Forming Bone Tumour Differential, H3-3B hotspotCartilage Forming Bone Tumour Differential, H3-3A seqCartilage Forming Bone Tumour Differential, H3-3B seqCartilage Forming Bone Tumour Differential, HEY1-NCOA2 RT-PCRCartilage Forming Bone Tumour Differential, SNP ArrayCartilage Forming Bone Tumour Differential, WGS Germline and TumourCartilage Forming Bone Tumour Differential, Multi-target NGS panel - structural variant (HEY1-NCOA2, NTRK1, NTRK2, NTRK3)Bone Forming Bone Tumour Differential, Multi-target NGS panel - small variant (H3-3A, H3-3B)Bone Forming Bone Tumour Differential, H3-3B hotspotBone Forming Bone Tumour Differential, H3-3A seqBone Forming Bone Tumour Differential, H3-3B seqBone Forming Bone Tumour Differential, MDM2 copy number FISHBone Forming Bone Tumour Differential, USP6 rearrangement FISHBone Forming Bone Tumour Differential, WGS Germline and TumourBone Forming Bone Tumour Differential, Multi-target NGS panel - structural variant (USP6, NTRK1, NTRK2, NTRK3)Bone Forming Bone Tumour Differential, Multi-target NGS panel - copy number variant (MDM2)Osteoclast-Rich Bone Tumour Differential, Multi-target NGS panel - small variant (H3-3B)Osteoclast-Rich Bone Tumour Differential, H3-3B seqOsteoclast-Rich Bone Tumour Differential, H3-3B hotspotOsteoclast-Rich Bone Tumour Differential, MDM2 copy number FISHOsteoclast-Rich Bone Tumour Differential, USP6 rearrangement FISHOsteoclast-Rich Bone Tumour Differential, WGS Germline and TumourOsteoclast-Rich Bone Tumour Differential, Multi-target NGS panel - structural variant (USP6, NTRK1, NTRK2, NTRK3)Osteoclast-Rich Bone Tumour Differential, Multi-target NGS panel - copy number variant (MDM2)Round Cell Sarcoma of Bone Differential, Multi-target NGS panel - structural variant (BCOR, CIC, EWSR1, WT1, BCOR-CCNB3, HEY1-NCOA2, NTRK1, NTRK2, NTRK3)Round Cell Sarcoma of Bone Differential, EWSR1 rearrangement FISH or RT-PCRRound Cell Sarcoma of Bone Differential, WT1 rearrangement FISH or RT-PCRRound Cell Sarcoma of Bone Differential, BCOR-CCNB3 RT-PCRRound Cell Sarcoma of Bone Differential, HEY1-NCOA2 RT-PCRRound Cell Sarcoma of Bone Differential, WGS Germline and TumourVascular Tumour of Bone Differential, MYC copy number FISHVascular Tumour of Bone Differential, SERPINE1-FOSB FISH/RT-PCRVascular Tumour of Bone Differential, WWTR1-CAMTA1 RT-PCRVascular Tumour of Bone Differential, WGS Germline and TumourVascular Tumour of Bone Differential, Multi-target NGS panel - structural variant (SERPINE1-FOSB, WWTR1-CAMTA1, NTRK1, NTRK2, NTRK3)Vascular Tumour of Bone Differential, Multi-target NGS panel - copy number variant (MYC)Spindle Cell Tumour of Bone Differential, Multi-target NGS panel - structural variant (ALK, BCOR, CIC, EWSR1, FUS, NTRK1, NTRK2, NTRK3)Spindle Cell Tumour of Bone Differential, EWSR1 rearrangement FISH or RT-PCRSpindle Cell Tumour of Bone Differential, FUS rearrangement FISH or RT-PCRSpindle Cell Tumour of Bone Differential, MDM2 copy number FISHSpindle Cell Tumour of Bone Differential, WGS Germline and TumourSpindle Cell Tumour of Bone Differential, Multi-target NGS panel - copy number variant (MDM2)Fibro-Osseous Tumour of Bone Differential, Multi-target NGS panel - small variant (GNAS)Fibro-Osseous Tumour of Bone Differential, MDM2 copy number FISHFibro-Osseous Tumour of Bone Differential, WGS Germline and TumourFibro-Osseous Tumour of Bone Differential, Multi-target NGS panel - structural variant (NTRK1, NTRK2, NTRK3)Fibro-Osseous Tumour of Bone Differential, Multi-target NGS panel - copy number variant (MDM2)Renal Tumour Differential - Paediatric, Multi-target NGS panel - small variant (CTNNB1, DAXX, ATRX, TP53, TFE3)Renal Tumour Differential - Paediatric, ATRX seqRenal Tumour Differential - Paediatric, CTNNB1 seqRenal Tumour Differential - Paediatric, DAXX seqRenal Tumour Differential - Paediatric, TFE3 seqRenal Tumour Differential - Paediatric, TP53 seqRenal Tumour Differential - Paediatric, ATRX copy number FISHRenal Tumour Differential - Paediatric, del(17p) TP53 copy number FISHRenal Tumour Differential - Paediatric, WT1 copy number FISHRenal Tumour Differential - Paediatric, TFEB-MALAT1 FISH/RT-PCRRenal Tumour Differential - Paediatric, TFE3-ASPSCR1 FISH/RT-PCRRenal Tumour Differential - Paediatric, TFE3-MITF FISH/RT-PCRRenal Tumour Differential - Paediatric, TFE3-PRCC FISH/RT-PCRRenal Tumour Differential - Paediatric, WGS Germline and TumourRenal Tumour Differential - Paediatric, Multi-target NGS panel - structural variant (TFEB-MALAT1, TFE3-ASPSCR1, TFE3-MITF, TFE3-PRCC, NTRK1, NTRK2, NTRK3)Renal Tumour Differential - Paediatric, Multi-target NGS panel - copy number variant (ATRX, TP53, WT1)Endometrial Cancer, Multi-target NGS panel - structural variant (NTRK1, NTRK2, NTRK3)Endometrial Cancer, MLH1 promoter hypermethylationEndometrial Cancer, Multi-target NGS panel - small variant (MLH1, MSH2, MSH6, PMS2)Endometrial Cancer, Multi-target NGS panel-small variant detection (POLE)Urothelial Carcinoma, Multi-target NGS panel - small variant (FGFR3, FGFR2)Urothelial Carcinoma, Multi-target NGS panel - copy number variant (FGFR3, FGFR2)Urothelial Carcinoma, Multi-target NGS panel - structural variant (FGFR3, FGFR2, NTRK1, NTRK2, NTRK3)Prostate Cancer, Multi-target NGS panel - small variant (BRCA1, BRCA2) for somatic/tissue testingProstate Cancer, Multi-target NGS panel - structural variant (TMPRSS2-ERG, NTRK1, NTRK2, NTRK3)Prostate Cancer, TMPRSS2-ERG FISHPancreatic Cancer, Multi-target NGS panel - small variant (BRCA1, BRCA2)Pancreatic Cancer, Multi-target NGS panel - structural variant (NTRK1, NTRK2, NTRK3)Pancreatic Cancer, DPYD hotspotPancreatic Cancer, MSI TestingCholangiocarcinoma, Multi-target NGS panel - structural variant (NTRK1, NTRK2, NTRK3, FGFR2)Cholangiocarcinoma, DPYD hotspotCholangiocarcinoma, MSI TestingCholangiocarcinoma, Multi-target NGS panel -small variant (IDH1)Cholangiocarcinoma, FGFR2 rearrangement FISHSpitzoid tumour, Multi-target NGS panel - structural variant (NTRK1, NTRK2, NTRK3)Hepatocellular carcinoma, Multi-target NGS panel - structural variant (NTRK1, NTRK2, NTRK3)Hepatocellular carcinoma, DPYD hotspotCarcinoma of Unknown Primary, Multi-target NGS panel - structural variant (NTRK1, NTRK2, NTRK3)Carcinoma of Unknown Primary, DPYD hotspotCarcinoma of Unknown Primary, WGS Germline and TumourCarcinoma of Unknown Primary, Multi-target NGS panel-structural variant (ALK, EML4, FGFR2, FGFR3, MAML2, MET * (including exon 14 skipping), MYB, NFIB, NTRK1, NTRK2, NTRK3, RET,ROS1, TFE3, TMPRSS2, ERG)Carcinoma of Unknown Primary, Multi-target NGS panel -small variant (AKT1, APC, ALK, BRCA1, BRCA2, BRAF, CDKN2A, CTNNB1, DICER1, EGFR, ELOC, ESR1, FGFR2, FGFR3, FH, FOXL2, HRAS, IDH1, KIT, KRAS, MLH1, MSH2, MSH6, MET (including exon 14 skipping), NF1, NRAS, PDGFRA, PIK3CA, POLD1, POLE, PMS2, PTEN, RB1, RET, SDHA, SHDB, SDHC, SDHD, SMARCA4, TP53, TSC1, TSC2, TERT (promoter), VKL, NF2, CDK12) and copy number variant (CDKN2A, FGFR2, FGFR3, MET, PTEN, TP53)Carcinoma of Unknown Primary, Multi-target ctDNA NGS panel - small variant (AKT1, APC, ALK, BRCA1, BRCA2, BRAF, CDKN2A, CTNNB1, EGFR, ESR1, HRAS, IDH1, FGFR2, FGFR3, KIT, KRAS, MLH1, NF1, NRAS, PDGFRA, PIK3CA, PTEN, RB1, RET, TSC1, TP53, TERT (promoter), VHL) , copy number variant (BRCA1, BRCA2, PTEN) , structural variant (ALK, BRAF, EML4, FGFR2, FGFR3, NTRK1, NTRK2, NTRK3, ROS1, MET (including exon 14 skipping), RET)Solid tumour other (i.e. specific histology not listed elsewhere in the test directory), Multi-target NGS panel - structural variant (NTRK1, NTRK2, NTRK3)Solid tumour other (i.e. specific histology not listed elsewhere in the test directory), DPYD hotspotSmall cell lung cancer, Multi-target NGS panel - copy number variant (RB1)Small cell lung cancer, Multi-target NGS panel - structural variant (NTRK1, NTRK2, NTRK3)Solid Tumour Exhausted all Standards of Care Testing and Treatment- Adult, WGS Germline and TumourHigh Grade Ovarian Carcinoma, WGS Germline and TumourTriple Negative Breast Cancer, WGS Germline and TumourOesophageal Cancer, MSI TestingOesophageal Cancer, DPYD hotspotGastric Cancer, MSI TestingGastric Cancer, DPYD hotspotSmall Bowel Cancer, MSI TestingSmall Bowel Cancer, DPYD hotspotThyroid Hurtle Cell Carcinoma, Multi-target NGS panel - structural variant (RET)Non-invasive follicular thyroid neoplasm with papillary like nuclei, Multi-target NGS panel - small variant (BRAF,HRAS,NRAS,KRAS)Conjunctival melanoma, MYB & 6cenConjunctival melanoma, RREB1 (6p25)Conjunctival melanoma, CCND1 (11q13)Conjunctival melanoma, MYC & 8cenConjunctival melanoma, CDKN2A & 9cenAny patient receiving solid organ transplantation (only in cases where passenger lymphocyte syndrome is suspected), STR TestingAny patient receiving solid organ transplantation (only in cases where passenger lymphocyte syndrome is suspected), Sex chromosome FISHThymic Carcinoma, Multi-target NGS panel (KIT)In all tumours eligible for NTRK1/2/3 testing, FISHOvarian sex cord stromal tumours, Multi-target NGS panel-small variant (FOXL2, CTNNB1, APC, DICER1)Anaplastic Astrocytoma, Paediatric, Multi-target NGS panel, small variant (BRAF)Anaplastic Astrocytoma, Paediatric, BRAF-KIAA1549 FISH/RT-PCRAnaplastic Astrocytoma, Paediatric, WGS Germline and TumorAnaplastic Astrocytoma, Paediatric, DNA MethylationAnaplastic Astrocytoma, Paediatric, Multi-target NGS panel, structural variant (BRAF-KIAA1549, NTRK1, NTRK2, NTRK3)Astrocytoma, Adult, Multi-target NGS panel, small variant (IDH1, IDH2, ATRX, H3-3A,H3C2, BRAF, TERT promoter)Astrocytoma, Adult, Multi-target NGS panel, copy number variant (EGFR, CDKN2A, CDKN2B)Astrocytoma, Adult, EGFRvIII RT-PCRAstrocytoma, Adult, EGFR copy number FISHAstrocytoma, Adult, 1p19q codel FISH/RT-PCRAstrocytoma, Adult, IDH1 hotspotAstrocytoma, Adult, IDH2 hotspotAstrocytoma, Adult, DNA MethylationAstrocytoma, Adult, Multi-target NGS panel, structural variant (EGFRvIII, NTRK1, NTRK2, NTRK3)Astrocytoma, Adult, WGS Germline and TumorAstrocytoma, Adult, CDKN2A copy number FISHAstrocytoma, Adult, CDKN2B copy number FISHDiffuse Astrocytoma, Paediatric, Multi-target NGS panel, small variant (H3C2, H3C14, IDH1, IDH2)Diffuse Astrocytoma, Paediatric, MYC copy number FISHDiffuse Astrocytoma, Paediatric, MYC rearrangement FISHDiffuse Astrocytoma, Paediatric, WGS Germline and TumorDiffuse Astrocytoma, Paediatric, IDH1 hotspotDiffuse Astrocytoma, Paediatric, IDH2 hotspotDiffuse Astrocytoma, Paediatric, DNA MethylationDiffuse Astrocytoma, Paediatric, Multi-target NGS panel, copy number variant (MYC)Diffuse Astrocytoma, Paediatric, Multi-target NGS panel, structural variant (MYC, NTRK1, NTRK2, NTRK3)Diffuse Astrocytoma, Paediatric, MYB rearrangement FISH/RT-PCRDiffuse Astrocytoma, Paediatric, MYBL1 rearrangement FISH/RT-PCRDiffuse Astrocytoma, Paediatric, MN1 rearrangement FISH/RT-PCRDiffuse Midline Glioma, Adult, Multi-target NGS panel, small variant (IDH1, IDH2, ATRX, TERT promoter, H3-3A)Diffuse Midline Glioma, Adult, IDH1 hotspotDiffuse Midline Glioma, Adult, IDH2 hotspotDiffuse Midline Glioma, Adult, 1p19q codel FISH/RT-PCRDiffuse Midline Glioma, Adult, DNA MethylationDiffuse Midline Glioma, Adult, Multi-target NGS panel, copy number variant (1p, 19q)Diffuse Midline Glioma, Adult, Multi-target NGS panel, structural variant (NTRK1, NTRK2, NTRK3)Diffuse Midline Glioma, Adult, WGS Germline and TumorEmbryonal Tumours with Multi-Layered Rosettes, Paediatric, C19MC copy number FISHEmbryonal Tumours with Multi-Layered Rosettes, Paediatric, TTYH1-C19MC FISH/RT-PCREmbryonal Tumours with Multi-Layered Rosettes, Paediatric, WGS Germline and TumorEmbryonal Tumours with Multi-Layered Rosettes, Paediatric, DNA MethylationEmbryonal Tumours with Multi-Layered Rosettes, Paediatric, Multi-target NGS panel, copy number variant (C19MC)Embryonal Tumours with Multi-Layered Rosettes, Paediatric, Multi-target NGS panel, structural variant (TTYH1-C19MC, NTRK1, NTRK2, NTRK3)Ependymoma, Paediatric, Multi-target NGS panel, small variant (YAP1)Ependymoma, Paediatric, YAP1 copy number FISHEpendymoma, Paediatric, YAP1-C11orf95 FISH/RT-PCREpendymoma, Paediatric, YAP1-TFE3 FISH/RT-PCREpendymoma, Paediatric, C11orf95-RELA FISH/RT-PCREpendymoma, Paediatric, WGS Germline and TumorEpendymoma, Paediatric, DNA MethylationEpendymoma, Paediatric, Multi-target NGS panel, copy number variant (YAP1, MYCN)Ependymoma, Paediatric, Multi-target NGS panel, structural variant (YAP1-C11orf95, YAP1-TFE3, C11orf95-RELA, NTRK1, NTRK2, NTRK3)Ependymoma, Paediatric, MYCN copy number FISHEpendymoma, Paediatric, ZFTA rearrangements (several fusion partners)Ependymoma Supratentorial, Adult, YAP1 rearrangement FISH/RT-PCREpendymoma, Adult, RELA rearrangement FISH/RT-PCREpendymoma, Adult, DNA MethylationEpendymoma, Adult, Multi-target NGS panel, structural variant (YAP1, RELA, NTRK1, NTRK2, NTRK3)Ependymoma, Adult, WGS Germline and TumorEpendymoma, Adult, ZFTA rearrangements (several fusion partners)Glioblastoma, Adult, Multi-target NGS panel, small variant (IDH1, IDH2, ATRX, H3-3A, H3C2, BRAF, TERT promoter)Glioblastoma, Adult, Multi-target NGS panel, copy number variant (EGFR, PDGFRA, MYC, PTEN, 1p, 19q)Glioblastoma, Adult, EGFRvIII RT-PCRGlioblastoma, Adult, EGFR copy number FISHGlioblastoma, Adult, MGMT promoter hyperMethylationGlioblastoma, Adult, 1p19q codel FISH/RT-PCRGlioblastoma, Adult, PDGFRA copy number FISH/RT-PCRGlioblastoma, Adult, MYC copy number FISHGlioblastoma, Adult, PTEN (10q23) copy number FISH/RT-PCRGlioblastoma, Adult, IDH1 hotspotGlioblastoma, Adult, IDH2 hotspotGlioblastoma, Adult, DNA MethylationGlioblastoma, Adult, Multi-target NGS panel, structural variant (EGFRvIII, NTRK1, NTRK2, NTRK3)Glioblastoma, Adult, WGS Germline and TumorGlioma, Adult, Multi-target NGS panel, small variant (H3C2, H3C3, H3C14, H3-3A, H3-3B, IDH1, IDH2, TP53, VHL, TERT promoter)Glioma, Adult, Multi-target NGS panel, copy number variant (EGFR, 1p, 19q)Glioma, Adult, EGFR copy number FISHGlioma, Adult, IDH1 hotspotGlioma, Adult, IDH2 hotspotGlioma, Adult, 1p19q codel FISH/RT-PCRGlioma, Adult, DNA MethylationGlioma, Adult, Multi-target NGS panel, structural variant (NTRK1, NTRK2, NTRK3)Glioma, Adult, WGS Germline and TumorHigh Grade Glioma, Adult, Multi-target NGS panel, small variant (IDH1, IDH2, ATRX, TERT promoter, H3-3A, H3C2)High Grade Glioma, Adult, MGMT promoter hyperMethylationHigh Grade Glioma, Adult, IDH1 hotspotHigh Grade Glioma, Adult, IDH2 hotspotHigh Grade Glioma, Adult, 1p19q codel FISH/RT-PCRHigh Grade Glioma, Adult, DNA MethylationHigh Grade Glioma, Adult, Multi-target NGS panel, copy number variant (1p, 19q)High Grade Glioma, Adult, Multi-target NGS panel, structural variant (NTRK1, NTRK2, NTRK3)High Grade Glioma, Adult, WGS Germline and TumorIDH-Wildtype Glioblastoma, Paediatric, Multi-target NGS panel, small variant (RB1, NF1)IDH-Wildtype Glioblastoma, Paediatric, WGS Germline and TumorIDH-Wildtype Glioblastoma, Paediatric, DNA MethylationIDH-Wildtype Glioblastoma, Paediatric, Multi-target NGS panel, structural variant (NTRK1, NTRK2, NTRK3)Low Grade Glioma, Adult, MGMT promoter hyperMethylationLow Grade Glioma, Adult, Multi-target NGS panel, small variant (IDH1, IDH2, TERT promoter, H3-3A, H3C2)Low Grade Glioma, Adult, 1p19q codel FISH/RT-PCRLow Grade Glioma, Adult, DNA MethylationLow Grade Glioma, Adult, Multi-target NGS panel, copy number variant (1p, 19q)Low Grade Glioma, Adult, Multi-target NGS panel, structural variant (NTRK1, NTRK2, NTRK3)Low Grade Glioma, Adult, WGS Germline and TumorLow Grade Glioma/Glioneuronal Tumours, Adult, Multi-target NGS panel, small variant (BRAF, IDH1, IDH2, TERT promoter, H3-3A, H3C2)Low Grade Glioma/Glioneuronal Tumours, Adult, 1p19q codel FISH/RT-PCRLow Grade Glioma/Glioneuronal Tumours, Adult, DNA MethylationLow Grade Glioma/Glioneuronal Tumours, Adult, Multi-target NGS panel, copy number variant (1p, 19q)Low Grade Glioma/Glioneuronal Tumours, Adult, Multi-target NGS panel, structural variant (NTRK1, NTRK2, NTRK3)Low Grade Glioma/Glioneuronal Tumours, Adult, WGS Germline and TumorMeningioma, Adult, Multi-target NGS panel, small variant (TERT promoter)Meningioma, Adult, DNA MethylationMeningioma, Adult, WGS Germline and TumorNon-Midline Glioma, Adult, Multi-target NGS panel, small variant (IDH1, IDH2, ATRX, TERT promoter, H3-3A, H3C2)Non-Midline Glioma, Adult, IDH1 hotspotNon-Midline Glioma, Adult, IDH2 hotspotNon-Midline Glioma, Adult, 1p19q codel FISH/RT-PCRNon-Midline Glioma, Adult, DNA MethylationNon-Midline Glioma, Adult, Multi-target NGS panel, copy number variant (1p, 19q)Non-Midline Glioma, Adult, Multi-target NGS panel, structural variant (NTRK1, NTRK2, NTRK3)Non-Midline Glioma, Adult, WGS Germline and TumorOligodendroGlioma, Adult, Multi-target NGS panel, small variant (IDH1, IDH2, ATRX, H3-3A, H3C2, BRAF, TERT promoter)OligodendroGlioma, Adult, 1p19q codel FISH/RT-PCROligodendroGlioma, Adult, IDH1 hotspotOligodendroGlioma, Adult, IDH2 hotspotOligodendroGlioma, Adult, DNA MethylationOligodendroGlioma, Adult, Multi-target NGS panel, copy number variant (1p, 19q)OligodendroGlioma, Adult, Multi-target NGS panel, structural variant (NTRK1, NTRK2, NTRK3)OligodendroGlioma, Adult, WGS Germline and TumorPilocytic Astrocytoma, Adult, BRAF-KIAA1549 FISH/RT-PCRPilocytic Astrocytoma, Adult, BRAF-AGK FISH/RT-PCRPilocytic Astrocytoma, Adult, BRAF-AKAP9 FISH/RT-PCRPilocytic Astrocytoma, Adult, BRAF-CCDC6 FISH/RT-PCRPilocytic Astrocytoma, Adult, BRAF-FAM118B FISH/RT-PCRPilocytic Astrocytoma, Adult, BRAF-FXR1 FISH/RT-PCRPilocytic Astrocytoma, Adult, BRAF-GNAI1 FISH/RT-PCRPilocytic Astrocytoma, Adult, BRAF-MACF1 FISH/RT-PCRPilocytic Astrocytoma, Adult, BRAF rearrangement FISHPilocytic Astrocytoma, Adult, KIAA1549 copy number FISHPilocytic Astrocytoma, Adult, CDKN2A copy number FISHPilocytic Astrocytoma, Adult, Multi-target NGS panel, small variant (BRAF, CDKN2A)Pilocytic Astrocytoma, Adult, DNA MethylationPilocytic Astrocytoma, Adult, Multi-target NGS panel, structural variant (BRAF-KIAA1549, BRAF-AGK, BRAF-AKAP9, BRAF-CCDC6, BRAF-FAM118B, BRAF-FXR1, BRAF-GNAI1, BRAF-MACF1, other rearrangements of BRAF, NTRK1, NTRK2, NTRK3)Pilocytic Astrocytoma, Adult, Multi-target NGS panel, copy number variant (KIAA1549, CDKN2A)Pilocytic Astrocytoma, Adult, WGS Germline and TumorPineoblastoma, Paediatric, Multi-target NGS panel, small variant (DICER1)Pineoblastoma, Paediatric, WGS Germline and TumorPineoblastoma, Paediatric, DNA MethylationPineoblastoma, Paediatric, Multi-target NGS panel, structural variant (NTRK1, NTRK2, NTRK3)Pituitary Tumours, MGMT promoter hyperMethylationPituitary Tumours, Multi-target NGS panel, copy number variant (EGFR)Pituitary Tumours, EGFR copy number FISHPituitary Tumours, DNA MethylationPituitary Tumours, Multi-target NGS panel, structural variant (NTRK1, NTRK2, NTRK3)Pituitary Tumours, WGS Germline and TumorRare Primitive Neuroectodermal Tumours Groups 2/3, Paediatric, Multi-target NGS panel, small variant (CDKN2A)Rare Primitive Neuroectodermal Tumours Groups 2/3, Paediatric, WGS Germline and TumorRare Primitive Neuroectodermal Tumours Groups 2/3, Paediatric, DNA MethylationRare Primitive Neuroectodermal Tumours Groups 2/3, Paediatric, Multi-target NGS panel, structural variant (NTRK1, NTRK2, NTRK3)Atypical Teratoid/Rhabdoid Tumour, Paediatric, Multi-target NGS panel, small variant (SMARCA4, SMARCB1)Atypical Teratoid/Rhabdoid Tumour, Paediatric, SMARCA4 seqAtypical Teratoid/Rhabdoid Tumour, Paediatric, SMARCB1 seqAtypical Teratoid/Rhabdoid Tumour, Paediatric, SMARCA4 copy number FISHAtypical Teratoid/Rhabdoid Tumour, Paediatric, SMARCB1 copy number FISHAtypical Teratoid/Rhabdoid Tumour, Paediatric, Multi-target NGS panel, structural variantAtypical Teratoid/Rhabdoid Tumour, Paediatric, BRAF-KIAA1549 FISH/RT-PCRAtypical Teratoid/Rhabdoid Tumour, Paediatric, BRAF-FXR1 FISH/RT-PCRAtypical Teratoid/Rhabdoid Tumour, Paediatric, BRAF-AGK FISH/RT-PCRAtypical Teratoid/Rhabdoid Tumour, Paediatric, BRAF-AKAP9 FISH/RT-PCRAtypical Teratoid/Rhabdoid Tumour, Paediatric, BRAF-CCDC6 FISH/RT-PCRAtypical Teratoid/Rhabdoid Tumour, Paediatric, BRAF-FAM118B FISH/RT-PCRAtypical Teratoid/Rhabdoid Tumour, Paediatric, BRAF-GNAI1 FISH/RT-PCRAtypical Teratoid/Rhabdoid Tumour, Paediatric, BRAF-MACF1 FISH/RT-PCRAtypical Teratoid/Rhabdoid Tumour, Paediatric, BRAF rearrangement FISHAtypical Teratoid/Rhabdoid Tumour, Paediatric, WGS Germline and TumourAtypical Teratoid/Rhabdoid Tumour, Paediatric, Multi-target NGS panel, copy number variant (SMARCA4, SMARCB1)Atypical Teratoid/Rhabdoid Tumour, Paediatric, DNA MethylationCNS High-Grade Neuroepithelial Tumour with MN1 Alteration, Paediatric, MN1 rearrangement FISHCNS High-Grade Neuroepithelial Tumour with MN1 Alteration, Paediatric, WGS Germline and TumourCNS High-Grade Neuroepithelial Tumour with MN1 Alteration, Paediatric, Multi-target NGS panel, structural variant (MN1, NTRK1, NTRK2, NTRK3)CNS High-Grade Neuroepithelial Tumour with MN1 Alteration, Paediatric, DNA MethylationCribriform Neuroepithelial Tumour, Paediatric, Multi-target NGS panel, small variant (SMARCB1)Cribriform Neuroepithelial Tumour, Paediatric, SMARCB1 seqCribriform Neuroepithelial Tumour, Paediatric, SMARCB1 copy number FISHCribriform Neuroepithelial Tumour, Paediatric, WGS Germline and TumourCribriform Neuroepithelial Tumour, Paediatric, Multi-target NGS panel, structural variant (NTRK1, NTRK2, NTRK3)Cribriform Neuroepithelial Tumour, Paediatric, Multi-target NGS panel, copy number variant (SMARCB1)Cribriform Neuroepithelial Tumour, Paediatric, DNA MethylationDesmoplastic Infantile Gangliogliomas, Paediatric, Multi-target NGS panel, small variant (BRAF)Desmoplastic Infantile Gangliogliomas, Paediatric, Multi-target NGS panel, structural variantDesmoplastic Infantile Gangliogliomas, Paediatric, BRAF-KIAA1549 FISH/RT-PCRDesmoplastic Infantile Gangliogliomas, Paediatric, BRAF-FXR1 FISH/RT-PCRDesmoplastic Infantile Gangliogliomas, Paediatric, BRAF-AGK FISH/RT-PCRDesmoplastic Infantile Gangliogliomas, Paediatric, BRAF-AKAP9 FISH/RT-PCRDesmoplastic Infantile Gangliogliomas, Paediatric, BRAF-CCDC6 FISH/RT-PCRDesmoplastic Infantile Gangliogliomas, Paediatric, BRAF-FAM118B FISH/RT-PCRDesmoplastic Infantile Gangliogliomas, Paediatric, BRAF-GNAI1 FISH/RT-PCRDesmoplastic Infantile Gangliogliomas, Paediatric, BRAF-MACF1 FISH/RT-PCRDesmoplastic Infantile Gangliogliomas, Paediatric, BRAF rearrangement FISHDesmoplastic Infantile Gangliogliomas, Paediatric, WGS Germline and TumourDesmoplastic Infantile Gangliogliomas, Paediatric, DNA MethylationDesmoplastic Medulloblastoma, Paediatric, Multi-target NGS panel, small variant (SUFU)Desmoplastic Medulloblastoma, Paediatric, SUFU seqDesmoplastic Medulloblastoma, Paediatric, WGS Germline and TumourDesmoplastic Medulloblastoma, Paediatric, Multi-target NGS panel, structural variant (NTRK1, NTRK2, NTRK3)Desmoplastic Medulloblastoma, Paediatric, DNA MethylationFibrolamellar Hepatocellular Carcinoma, Paediatric, DNAJB1-PRKACA FISH/RT-PCRFibrolamellar Hepatocellular Carcinoma, Paediatric, WGS Germline and TumourFibrolamellar Hepatocellular Carcinoma, Paediatric, Multi-target NGS panel, structural variant (DNAJB1-PRKACA, NTRK1, NTRK2, NTRK3)Fibrolamellar Hepatocellular Carcinoma, Paediatric, DPYD hotspotGanglioglioma, Paediatric, Multi-target NGS panel, small variant (BRAF)Ganglioglioma, Paediatric, Multi-target NGS panel, structural variant (BRAF-KIAA1549, BRAF-FXR1, BRAF-AGK, BRAF-AKAP9, BRAF-CCDC6, BRAF-FAM118B, BRAF-GNAI1, BRAF-MACF1, other rearrangements of BRAF, NTRK1, NTRK2, NTRK3)Ganglioglioma, Paediatric, BRAF-KIAA1549 FISH/RT-PCRGanglioglioma, Paediatric, BRAF-FXR1 FISH/RT-PCRGanglioglioma, Paediatric, BRAF-AGK FISH/RT-PCRGanglioglioma, Paediatric, BRAF-AKAP9 FISH/RT-PCRGanglioglioma, Paediatric, BRAF-CCDC6 FISH/RT-PCRGanglioglioma, Paediatric, BRAF-FAM118B FISH/RT-PCRGanglioglioma, Paediatric, BRAF-GNAI1 FISH/RT-PCRGanglioglioma, Paediatric, BRAF-MACF1 FISH/RT-PCRGanglioglioma, Paediatric, KIAA1549 copy number FISHGanglioglioma, Paediatric, BRAF rearrangement FISHGanglioglioma, Paediatric, WGS Germline and TumourGanglioglioma, Paediatric, Multi-target NGS panel, copy number variant (KIAA1549)Ganglioglioma, Paediatric, DNA MethylationGlial Tumours, Paediatric, Multi-target NGS panel, small variant (ATRX)Glial Tumours, Paediatric, WGS Germline and TumourGlial Tumours, Paediatric, Multi-target NGS panel, structural variant (NTRK1, NTRK2, NTRK3)Glial Tumours, Paediatric, DNA MethylationGlioblastoma, Paediatric, Multi-target NGS panel, small variant (BRAF, CDKN2A, FGFR4)Glioblastoma, Paediatric, Multi-target NGS panel, structural variant (BRAF-KIAA1549, BRAF-FXR1, BRAF-AGK, BRAF-AKAP9, BRAF-CCDC6, BRAF-FAM118B, BRAF-GNAI1, BRAF-MACF1, other rearrangements of BRAF, NTRK1, NTRK2, NTRK3)Glioblastoma, Paediatric, BRAF-KIAA1549 FISH/RT-PCRGlioblastoma, Paediatric, BRAF-FXR1 FISH/RT-PCRGlioblastoma, Paediatric, BRAF-AGK FISH/RT-PCRGlioblastoma, Paediatric, BRAF-AKAP9 FISH/RT-PCRGlioblastoma, Paediatric, BRAF-CCDC6 FISH/RT-PCRGlioblastoma, Paediatric, BRAF-FAM118B FISH/RT-PCRGlioblastoma, Paediatric, BRAF-GNAI1 FISH/RT-PCRGlioblastoma, Paediatric, BRAF-MACF1 FISH/RT-PCRGlioblastoma, Paediatric, CDKN2A seqGlioblastoma, Paediatric, FGFR4 seqGlioblastoma, Paediatric, CDKN2A copy number FISHGlioblastoma, Paediatric, BRAF rearrangement FISHGlioblastoma, Paediatric, WGS Germline and TumourGlioblastoma, Paediatric, Multi-target NGS panel, copy number variant (CDKN2A)Glioblastoma, Paediatric, DNA MethylationMedulloblastoma, Paediatric, Multi-target NGS panel, small variant (ALK, BCOR, PTCH1, PTCH2, PTEN, TERT promoter)Medulloblastoma, Paediatric, ALK seqMedulloblastoma, Paediatric, BCOR seqMedulloblastoma, Paediatric, PTCH1 seqMedulloblastoma, Paediatric, PTCH2 seqMedulloblastoma, Paediatric, TERT promoter seqMedulloblastoma, Paediatric, ALK copy number FISHMedulloblastoma, Paediatric, ALK rearrangement FISHMedulloblastoma, Paediatric, BCOR copy number FISHMedulloblastoma, Paediatric, BCOR rearrangement FISHMedulloblastoma, Paediatric, C19MC copy number FISHMedulloblastoma, Paediatric, PTEN copy number FISHMedulloblastoma, Paediatric, WGS Germline and TumourMedulloblastoma, Paediatric, Multi-target NGS panel, structural variant (ALK, BCOR, NTRK1, NTRK2, NTRK3)Medulloblastoma, Paediatric, Multi-target NGS panel, copy number variant (ALK, BCOR, C19MC, PTEN)Medulloblastoma, Paediatric, DNA MethylationMedulloblastoma Group 3, Paediatric, Multi-target NGS panel, small variant (SMARCA4, DDX3X)Medulloblastoma Group 3, Paediatric, SMARCA4 seqMedulloblastoma Group 3, Paediatric, DDX3X seqMedulloblastoma Group 3, Paediatric, SMARCA4 copy number FISHMedulloblastoma Group 3, Paediatric, PVT1-MYC FISH/RT-PCRMedulloblastoma Group 3, Paediatric, WGS Germline and TumourMedulloblastoma Group 3, Paediatric, Multi-target NGS panel, structural variant (PVT1-MYC, NTRK1, NTRK2, NTRK3)Medulloblastoma Group 3, Paediatric, Multi-target NGS panel, copy number variant (SMARCA4)Medulloblastoma Group 3, Paediatric, DNA MethylationMedulloblastoma Group 3/4, Paediatric, Multi-target NGS panel, small variant (MYCN, EZH2)Medulloblastoma Group 3/4, Paediatric, MYCN seqMedulloblastoma Group 3/4, Paediatric, EZH2 seqMedulloblastoma Group 3/4, Paediatric, MYCN copy number FISHMedulloblastoma Group 3/4, Paediatric, MYC copy number FISHMedulloblastoma Group 3/4, Paediatric, MYC rearrangement FISHMedulloblastoma Group 3/4, Paediatric, WGS Germline and TumourMedulloblastoma Group 3/4, Paediatric, Multi-target NGS panel, structural variant (MYC, NTRK1, NTRK2, NTRK3)Medulloblastoma Group 3/4, Paediatric, Multi-target NGS panel, copy number variant (MYCN, MYC)Medulloblastoma Group 3/4, Paediatric, DNA MethylationMedulloblastoma TP53 WT, Paediatric, Multi-target NGS panel, small variant (YAP1, PTCH1)Medulloblastoma TP53 WT, Paediatric, YAP1 seqMedulloblastoma TP53 WT, Paediatric, PTCH1 seqMedulloblastoma TP53 WT, Paediatric, YAP1-C11orf95 FISH/RT-PCRMedulloblastoma TP53 WT, Paediatric, YAP1-TFE3 FISH/RT-PCRMedulloblastoma TP53 WT, Paediatric, YAP1 copy number FISHMedulloblastoma TP53 WT, Paediatric, PTCH1 copy number FISHMedulloblastoma TP53 WT, Paediatric, WGS Germline and TumourMedulloblastoma TP53 WT, Paediatric, Multi-target NGS panel, structural variant (YAP1-C11orf95, YAP1-TFE3, NTRK1, NTRK2, NTRK3)Medulloblastoma TP53 WT, Paediatric, Multi-target NGS panel, copy number variant (YAP1, PTCH1)Medulloblastoma TP53 WT, Paediatric, DNA MethylationMeningioma, Paediatric, Multi-target NGS panel, small variant (SMARCE1, AKT1, NF2, TERT promoter)Meningioma, Paediatric, SMARCE1 seqMeningioma, Paediatric, AKT1 seqMeningioma, Paediatric, NF2 seqMeningioma, Paediatric, TERT promoter seqMeningioma, Paediatric, WGS Germline and TumourMeningioma, Paediatric, DNA MethylationMeningioma, Paediatric, Multi-target NGS panel, structural variant (NTRK1, NTRK2, NTRK3)Nodular Brain Tumour, Paediatric, Multi-target NGS panel, small variant (SMO)Nodular Brain Tumour, Paediatric, SMO seqNodular Brain Tumour, Paediatric, SMO copy number FISHNodular Brain Tumour, Paediatric, WGS Germline and TumorNodular Brain Tumour, Paediatric, Multi-target NGS panel, structural variant (NTRK1, NTRK2, NTRK3)Nodular Brain Tumour, Paediatric, Multi-target NGS panel, copy number variant (SMO)Nodular Brain Tumour, Paediatric, DNA MethylationOligoastrocytoma, Paediatric, Multi-target NGS panel, small variant (KIT)Oligoastrocytoma, Paediatric, KIT copy number FISHOligoastrocytoma, Paediatric, WGS Germline and TumorOligoastrocytoma, Paediatric, Multi-target NGS panel, structural variant (NTRK1, NTRK2, NTRK3)Oligoastrocytoma, Paediatric, Multi-target NGS panel, copy number variant (KIT)Oligoastrocytoma, Paediatric, DNA MethylationOligodendroglioma, Paediatric, Multi-target NGS panel, small variant (RB1, ATRX)Oligodendroglioma, Paediatric, ATRX seqOligodendroglioma, Paediatric, RB1 seqOligodendroglioma, Paediatric, Multi-target NGS panel, copy number variant (1p19q, RB1, ATRX)Oligodendroglioma, Paediatric, 1p19q codel FISHOligodendroglioma, Paediatric, RB1 copy number FISHOligodendroglioma, Paediatric, ATRX copy number FISHOligodendroglioma, Paediatric, WGS Germline and TumorOligodendroglioma, Paediatric, Multi-target NGS panel, structural variant (NTRK1, NTRK2, NTRK3)Oligodendroglioma, Paediatric, DNA MethylationPilocytic Astrocytoma, Paediatric, Multi-target NGS panel, small variant (RAF1)Pilocytic Astrocytoma, Paediatric, RAF1 seqPilocytic Astrocytoma, Paediatric, RAF1-SRGAP3 FISH/RT-PCRPilocytic Astrocytoma, Paediatric, RAF1-NF1A FISH/RT-PCRPilocytic Astrocytoma, Paediatric, WGS Germline and TumorPilocytic Astrocytoma, Paediatric, Multi-target NGS panel, structural variant (RAF1-SRGAP3, RAF1-NF1A, NTRK1, NTRK2, NTRK3)Pilocytic Astrocytoma, Paediatric, DNA MethylationPituitary Blastoma, Paediatric, Multi-target NGS panel, small variant (DICER1)Pituitary Blastoma, Paediatric, DICER1 seqPituitary Blastoma, Paediatric, DICER1 copy number FISHPituitary Blastoma, Paediatric, WGS Germline and TumourPituitary Blastoma, Paediatric, Multi-target NGS panel, structural variant (NTRK1, NTRK2, NTRK3)Pituitary Blastoma, Paediatric, Multi-target NGS panel, copy number variant (DICER1)Pituitary Blastoma, Paediatric, DNA MethylationPleomorphic Xanthoastrocytoma, Paediatric, Multi-target NGS panel, small variant (BRAF, H3-3A)Pleomorphic Xanthoastrocytoma, Paediatric, Multi-target NGS panel, structural variantPleomorphic Xanthoastrocytoma, Paediatric, BRAF-KIAA1549 FISH/RT-PCRPleomorphic Xanthoastrocytoma, Paediatric, BRAF-FXR1 FISH/RT-PCRPleomorphic Xanthoastrocytoma, Paediatric, BRAF-AGK FISH/RT-PCRPleomorphic Xanthoastrocytoma, Paediatric, BRAF-AKAP9 FISH/RT-PCRPleomorphic Xanthoastrocytoma, Paediatric, BRAF-CCDC6 FISH/RT-PCRPleomorphic Xanthoastrocytoma, Paediatric, BRAF-FAM118B FISH/RT-PCRPleomorphic Xanthoastrocytoma, Paediatric, BRAF-GNAI1 FISH/RT-PCRPleomorphic Xanthoastrocytoma, Paediatric, BRAF-MACF1 FISH/RT-PCRPleomorphic Xanthoastrocytoma, Paediatric, H3-3A seqPleomorphic Xanthoastrocytoma, Paediatric, KIAA1549 copy number FISHPleomorphic Xanthoastrocytoma, Paediatric, BRAF rearrangement FISHPleomorphic Xanthoastrocytoma, Paediatric, WGS Germline and TumourPleomorphic Xanthoastrocytoma, Paediatric, Multi-target NGS panel, copy number variant (KIAA1549)Pleomorphic Xanthoastrocytoma, Paediatric, DNA MethylationPrimitive Neuroectodermal Tumours, Paediatric, Multi-target NGS panel, small variant (MSH6, PMS2, PTEN)Primitive Neuroectodermal Tumours, Paediatric, MSH6 seqPrimitive Neuroectodermal Tumours, Paediatric, PMS2 seqPrimitive Neuroectodermal Tumours, Paediatric, MYC copy number FISHPrimitive Neuroectodermal Tumours, Paediatric, MYC rearrangement FISHPrimitive Neuroectodermal Tumours, Paediatric, MSH6 copy number FISHPrimitive Neuroectodermal Tumours, Paediatric, PTEN copy number FISHPrimitive Neuroectodermal Tumours, Paediatric, WGS Germline and TumorPrimitive Neuroectodermal Tumours, Paediatric, Multi-target NGS panel, structural variant (MYC, NTRK1, NTRK2, NTRK3)Primitive Neuroectodermal Tumours, Paediatric, Multi-target NGS panel, copy number variant (MYC, MSH6, PTEN)Primitive Neuroectodermal Tumours, Paediatric, DNA MethylationRosette-Forming Glioneuronal Tumour, Paediatric, Multi-target NGS panel, small variant (PIK3CA, FGFR1)Rosette-Forming Glioneuronal Tumour, Paediatric, FGFR1 seqRosette-Forming Glioneuronal Tumour, Paediatric, FGFR1 rearrangement FISHRosette-Forming Glioneuronal Tumour, Paediatric, FGFR1 ITD FISHRosette-Forming Glioneuronal Tumour, Paediatric, WGS Germline and TumorRosette-Forming Glioneuronal Tumour, Paediatric, Multi-target NGS panel, structural variant (FGFR1, NTRK1, NTRK2, NTRK3)Rosette-Forming Glioneuronal Tumour, Paediatric, Multi-target NGS panel, copy number variant (FGFR1 ITD)Rosette-Forming Glioneuronal Tumour, Paediatric, DNA MethylationSecondary Glioblastoma, Paediatric, Multi-target NGS panel, small variant (IDH1, IDH2)Secondary Glioblastoma, Paediatric, IDH1 seqSecondary Glioblastoma, Paediatric, IDH2 seqSecondary Glioblastoma, Paediatric, WGS Germline and TumorSecondary Glioblastoma, Paediatric, Multi-target NGS panel, structural variant (NTRK1, NTRK2, NTRK3)Secondary Glioblastoma, Paediatric, DNA MethylationSHH Medulloblastoma, Paediatric, Multi-target NGS panel, small variant (SMO, DDX3X)SHH Medulloblastoma, Paediatric, SMO seqSHH Medulloblastoma, Paediatric, DDX3X seqSHH Medulloblastoma, Paediatric, SMO copy number FISHSHH Medulloblastoma, Paediatric, DDX3X copy number FISHSHH Medulloblastoma, Paediatric, WGS Germline and TumorSHH Medulloblastoma, Paediatric, Multi-target NGS panel, structural variant (NTRK1, NTRK2, NTRK3)SHH Medulloblastoma, Paediatric, Multi-target NGS panel, copy number variant (SMO, DDX3X)SHH Medulloblastoma, Paediatric, DNA MethylationSHH Medulloblastoma, TP53 WT, Paediatric, Multi-target NGS panel, small variant (SUFU, TERT promoter, PTCH1)SHH Medulloblastoma, TP53 WT, Paediatric, PTCH1 seqSHH Medulloblastoma, TP53 WT, Paediatric, SUFU seqSHH Medulloblastoma, TP53 WT, Paediatric, TERT promoter seqSHH Medulloblastoma, TP53 WT, Paediatric, PTCH1 copy number FISHSHH Medulloblastoma, TP53 WT, Paediatric, TERT copy number FISHSHH Medulloblastoma, TP53 WT, Paediatric, WGS Germline and TumorSHH Medulloblastoma, TP53 WT, Paediatric, Multi-target NGS panel, structural variant (NTRK1, NTRK2, NTRK3)SHH Medulloblastoma, TP53 WT, Paediatric, Multi-target NGS panel, copy number variant (PTCH1, TERT)SHH Medulloblastoma, TP53 WT, Paediatric, DNA MethylationSHH Medulloblastoma, TP53 MUTANT, Paediatric, Multi-target NGS panel, small variant (TP53, MYCN)SHH Medulloblastoma, TP53 MUTANT, Paediatric, TP53 seqSHH Medulloblastoma, TP53 MUTANT, Paediatric, MYCN seqSHH Medulloblastoma, TP53 MUTANT, Paediatric, del(17p) TP53 copy number FISHSHH Medulloblastoma, TP53 MUTANT, Paediatric, MYCN copy number FISHSHH Medulloblastoma, TP53 MUTANT, Paediatric, WGS Germline and TumorSHH Medulloblastoma, TP53 MUTANT, Paediatric, Multi-target NGS panel, structural variant (NTRK1, NTRK2, NTRK3)SHH Medulloblastoma, TP53 MUTANT, Paediatric, Multi-target NGS panel, copy number variant (TP53, MYCN)SHH Medulloblastoma, TP53 MUTANT, Paediatric, DNA MethylationWNT Medulloblastoma, Paediatric, Multi-target NGS panel, small variant (DDX3X, CTNNB1, SMARCA4, TP53)WNT Medulloblastoma, Paediatric, DDX3X seqWNT Medulloblastoma, Paediatric, CTNNB1 seqWNT Medulloblastoma, Paediatric, SMARCA4 seqWNT Medulloblastoma, Paediatric, TP53 seqWNT Medulloblastoma, Paediatric, SMARCA4 copy number FISHWNT Medulloblastoma, Paediatric, del(17p) TP53 copy number FISHWNT Medulloblastoma, Paediatric, WGS Germline and TumorWNT Medulloblastoma, Paediatric, Multi-target NGS panel, structural variant (NTRK1, NTRK2, NTRK3)WNT Medulloblastoma, Paediatric, Multi-target NGS panel, copy number variant (SMARCA4, TP53)WNT Medulloblastoma, Paediatric, DNA MethylationDiffuse Midline Glioma, Paediatric, Multi-target NGS panel, small variant (H3-3A, NF1, TERT promoter)Diffuse Midline Glioma, Paediatric, MYCN copy number FISHDiffuse Midline Glioma, Paediatric, MYC copy number FISHDiffuse Midline Glioma, Paediatric, MYC rearrangement FISHDiffuse Midline Glioma, Paediatric, WGS Germline and TumorDiffuse Midline Glioma, Paediatric, 1p19q codel FISH/RT-PCRDiffuse Midline Glioma, Paediatric, DNA MethylationDiffuse Midline Glioma, Paediatric, Multi-target NGS panel, copy number variant (1p, 19q, MYC, MYCN)Diffuse Midline Glioma, Paediatric, Multi-target NGS panel, structural variant (MYC, NTRK1, NTRK2, NTRK3)Glioma, Paediatric, Multi-target NGS panel, small variant (H3-3B, H3C2, H3C3, H3C14, IDH1, IDH2, TP53, VHL)Glioma, Paediatric, WGS Germline and TumorGlioma, Paediatric, IDH1 hotspotGlioma, Paediatric, IDH2 hotspotGlioma, Paediatric, 1p19q codel FISH/RT-PCRGlioma, Paediatric, DNA MethylationGlioma, Paediatric, Multi-target NGS panel, copy number variant (1p, 19q)Glioma, Paediatric, Multi-target NGS panel, structural variant (NTRK1, NTRK2, NTRK3)High Grade Glioma, Paediatric, Multi-target NGS panel, small variant (CDKN2B)High Grade Glioma, Paediatric, WGS Germline and TumorHigh Grade Glioma, Paediatric, 1p19q codel FISH/RT-PCRHigh Grade Glioma, Paediatric, DNA MethylationHigh Grade Glioma, Paediatric, Multi-target NGS panel, copy number variant (1p, 19q)Low Grade Glioma, Paediatric, Multi-target NGS panel, small variant (TSC1, TSC2, IDH1, IDH2, FGFR1)Low Grade Glioma, Paediatric, WGS Germline and TumorLow Grade Glioma, Paediatric, IDH1 hotspotLow Grade Glioma, Paediatric, IDH2 hotspotLow Grade Glioma, Paediatric, 1p19q codel FISH/RT-PCRLow Grade Glioma, Paediatric, DNA MethylationLow Grade Glioma, Paediatric, Multi-target NGS panel, copy number variant (1p, 19q)Low Grade Glioma, Paediatric, Multi-target NGS panel, structural variant (NTRK1, NTRK2, NTRK3)Brain Tumour, No Further Morphological Classification, Paediatric, Multi-target NGS panel, small variant (IDH1, IDH2, BRAF, H3C2, H3C3, H3C14, H3-3A, H3-3B, TERT promoter, TP53, VHL, YAP1, SMARCA4, SMARCB1, DDX3X, CTNNB1)Brain Tumour, No Further Morphological Classification, Paediatric, Multi-target NGS panel, structural variant (CIC, BCOR, BCOR-CCNB3, C11orf95-RELA, YAP1-C11orf95, YAP1-TFE3, EWSR1, MN1, RELA, YAP1, NTRK1, NTRK2, NTRK3)Brain Tumour, No Further Morphological Classification, Paediatric, BCOR-CCNB3 RT-PCRBrain Tumour, No Further Morphological Classification, Paediatric, C11orf95-RELA FISH/RT-PCRBrain Tumour, No Further Morphological Classification, Paediatric, YAP1-C11orf95 FISH/RT-PCRBrain Tumour, No Further Morphological Classification, Paediatric, YAP1-TFE3 FISH/RT-PCRBrain Tumour, No Further Morphological Classification, Paediatric, EWSR1 rearrangement FISHBrain Tumour, No Further Morphological Classification, Paediatric, MN1 rearrangement FISHBrain Tumour, No Further Morphological Classification, Paediatric, RELA rearrangement FISH/RT-PCRBrain Tumour, No Further Morphological Classification, Paediatric, YAP1 rearrangement FISH/RT-PCRBrain Tumour, No Further Morphological Classification, Paediatric, SNP ArrayBrain Tumour, No Further Morphological Classification, Paediatric, C19MC copy number FISHBrain Tumour, No Further Morphological Classification, Paediatric, SMARCA4 copy number FISHBrain Tumour, No Further Morphological Classification, Paediatric, SMARCB1 copy number FISHBrain Tumour, No Further Morphological Classification, Paediatric, YAP1 copy number FISHBrain Tumour, No Further Morphological Classification, Paediatric, MGMT promoter hyperMethylationBrain Tumour, No Further Morphological Classification, Paediatric, WGS Germline and TumorBrain Tumour, No Further Morphological Classification, Paediatric, IDH1 hotspotBrain Tumour, No Further Morphological Classification, Paediatric, IDH2 hotspotBrain Tumour, No Further Morphological Classification, Paediatric, DNA MethylationBrain Tumour, No Further Morphological Classification, Paediatric, Multi-target NGS panel, copy number variant (C19MC, SMARCA4, SMARCB1, YAP1)Embryonal Tumour Differential, Adult and Paediatric, Multi-target NGS panel, small variant (CDKN2A, DICER1, RB1, YAP1, SMARCA4, SMARCB1, MSH6, PMS2, PTEN, ATRX)Embryonal Tumour Differential, Adult and Paediatric, Multi-target NGS panel, structural variantEmbryonal Tumour Differential, Adult and Paediatric, BCOR-CCNB3 RT-PCREmbryonal Tumour Differential, Adult and Paediatric, BRAF-AGK FISH/RT-PCREmbryonal Tumour Differential, Adult and Paediatric, BRAF-AKAP9 FISH/RT-PCREmbryonal Tumour Differential, Adult and Paediatric, BRAF-CCDC6 FISH/RT-PCREmbryonal Tumour Differential, Adult and Paediatric, BRAF-FAM118B FISH/RT-PCREmbryonal Tumour Differential, Adult and Paediatric, BRAF-FRX1 FISH/RT-PCREmbryonal Tumour Differential, Adult and Paediatric, BRAF-GNAI1 FISH/RT-PCREmbryonal Tumour Differential, Adult and Paediatric, BRAF-KIAA1549 FISH/RT-PCREmbryonal Tumour Differential, Adult and Paediatric, BRAF-MACF1 FISH/RT-PCREmbryonal Tumour Differential, Adult and Paediatric, BRAF rearrangement FISHEmbryonal Tumour Differential, Adult and Paediatric, C11orf95-RELA FISH/RT-PCREmbryonal Tumour Differential, Adult and Paediatric, RELA rearrangement FISH/RT-PCREmbryonal Tumour Differential, Adult and Paediatric, TTYH1-C19MC FISH/RT-PCREmbryonal Tumour Differential, Adult and Paediatric, YAP1 rearrangement FISH/RT-PCREmbryonal Tumour Differential, Adult and Paediatric, YAP1-C11orf95 FISH/RT-PCREmbryonal Tumour Differential, Adult and Paediatric, YAP1-TFE3 FISH/RT-PCREmbryonal Tumour Differential, Adult and Paediatric, MYC rearrangement FISHEmbryonal Tumour Differential, Adult and Paediatric, MN1 rearrangement FISHEmbryonal Tumour Differential, Adult and Paediatric, SNP ArrayEmbryonal Tumour Differential, Adult and Paediatric, C19MC copy number FISHEmbryonal Tumour Differential, Adult and Paediatric, DICER1 copy number FISHEmbryonal Tumour Differential, Adult and Paediatric, MSH6 copy number FISHEmbryonal Tumour Differential, Adult and Paediatric, MYC copy number FISHEmbryonal Tumour Differential, Adult and Paediatric, PTEN (10q23) copy number FISH/RT-PCREmbryonal Tumour Differential, Adult and Paediatric, SMARCA4 copy number FISHEmbryonal Tumour Differential, Adult and Paediatric, SMARCB1 copy number FISHEmbryonal Tumour Differential, Adult and Paediatric, WGS Germline and TumorEmbryonal Tumour Differential, Adult and Paediatric, DNA MethylationEmbryonal Tumour Differential, Adult and Paediatric, Multi-target NGS panel, copy number variant (C19MC, DICER1, MSH6, MYC, PTEN, SMARCA4, SMARCB1)Low Grade Intrinsic Brain Tumour Differential, Adult, Multi-target NGS panel, small variant (IDH1, IDH2, ATRX, H3-3A, H3-3B, H3C2, H3C3, H3C14, BRAF, TERT promoter, CDKN2B, TP53, VHL, NF1)Low Grade Intrinsic Brain Tumour Differential, Adult, BRAF-AGK FISH/RT-PCRLow Grade Intrinsic Brain Tumour Differential, Adult, BRAF-AKAP9 FISH/RT-PCRLow Grade Intrinsic Brain Tumour Differential, Adult, BRAF-CCDC6 FISH/RT-PCRLow Grade Intrinsic Brain Tumour Differential, Adult, BRAF-FAM118B FISH/RT-PCRLow Grade Intrinsic Brain Tumour Differential, Adult, BRAF-FXR1 FISH/RT-PCRLow Grade Intrinsic Brain Tumour Differential, Adult, BRAF-GNAI1 FISH/RT-PCRLow Grade Intrinsic Brain Tumour Differential, Adult, BRAF-KIAA1549 FISH/RT-PCRLow Grade Intrinsic Brain Tumour Differential, Adult, BRAF-MACF1 FISH/RT-PCR

• linkId: HL7/OBR-4-c
• Definition:: ServiceRequest.code
• Enable When: todo
• Answers: Genomic Cancer Test Directory

Test request ID/Order ID

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

PriorityRoutine The request has normal priority.Urgent

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

Clinical Geneticist email

• linkId: NOS/GeneticistEmail
• Definition:: Observation.valueString
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Clinical Geneticist department email

• linkId: NOS/GeneticistDepartmentEmail
• Definition:: Observation.valueString
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Patient Clinical Information

• linkId: PatientClinicalInformation
• Answers:

CITT code (Specific disease suspected/reason for testing)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

Relevant clinical information and family history

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

Specimen/Biopsy

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

Sample collection statusAvailableUnavailableUnsatisfactoryEntered in Error

• linkId: HL7/SPM
• Definition:: Specimen.status
• Answers: SpecimenStatus

Specimen ID Number

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

ORM v2.4 - OBX-3 = LOINC 80398-1 and OBX-2 = CE. OML v2.5.1 SPM-2

• linkId: LN/80398-1-designNote
• Answers:

Lab DNA Number (If Known)

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

Pathology Laboratory Hospital/Trust ID (for Path Lab Sample/Stored DNA)

• linkId: LN/80398-1-ODS
• Definition:: Specimen.accessionIdentifier.assigner.identifier.value
• Answers:

Specimen Collection Date

• linkId: LN/33882-2
• Definition:: Specimen.collection.collectedDateTime
• Answers:

ORM v2.4 - OBX-3 = LOINC 33882-2 and OBX-2 = TS . OML v2.5.1 SPM-17

• linkId: LN/33882-2-designNote
• Answers:

Specimen TypeBlood specimen (specimen)Amniotic fluid specimen (specimen)Ascitic fluid specimen (specimen)Whole blood specimen (specimen)Arterial blood specimen (specimen)Cord blood specimen (specimen)Fetal blood specimen (specimen)Venous blood specimen (specimen)Dried blood spot specimen (specimen)Bone marrow specimen (specimen)Swab from buccal mucosa (specimen)Cerebrospinal fluid specimen (specimen)Chorionic villi specimen (specimen)Cultured cells (substance)Thyroid cyst fluid specimen (specimen)Deoxyribonucleic acid specimen (specimen)Formalin-fixed paraffin-embedded tissue specimen (specimen)Freeze dried specimen (specimen)Pericardial fluid specimen (specimen)Pleural fluid specimen (specimen)Saliva specimen (specimen)Fresh tissue specimen (specimen)Urine specimen (specimen)Ribonucleic acid specimen (specimen)UrineTissueSalivaPericardial fluidNo Sample ReceivedLyophilised cell pelletLiquid BiopsyFFPE - Wax blockFFPE - SlidesFFPE - ShavingsFFPE - Positively Charged SlidesCystic fluidVillus BiopsyCultured CellsCerebrospinal fluidCell PelletBlood SpotBuccal SwabBone MarrowBloodAscitic FluidAmniotic FluidUnknownPleural fluid

• linkId: LN/66746-9
• Definition:: Specimen.type.coding.code
• Answers: Specimen Type

ORM v2.4 - OBX-3 = LOINC 66746-9 and OBX-2 = CE. OML v2.5.1 SPM-4

• linkId: LN/66746-9-designNote
• Answers:

Anticoagulant/preservative???

• linkId: LN/74384-9
• Definition:: Observation.valueCodeableConcept
• Answers:
• Answers: 2 options

Tissue source/organ of origin??

• linkId: LN/39111-0
• Definition:: Specimen.collection.bodySite
• Answers:

Specimen Volume/number of slides or scrolls

• linkId: LN/3169-0
• Definition:: Specimen.collection.quantity
• Answers:

Audit (Specimen Tracking)

• linkId: OrderTracking
• Definition:: Specimen.collection
• Answers:

Date and time sample received in lab

• linkId: NOS/SampleReceived
• Definition:: Specimen.receivedTime
• Answers:

Date and time sample sent

• linkId: NOS/SampleSent
• Definition:: Observation.valueDateTime
• Answers:

Transport used

• linkId: NOS/TransportUsed
• Definition:: Observation.valueString
• Answers:

Tracking number

• linkId: LN/97209-1
• Definition:: Specimen.identifier[ShipmentTrackingNumber]
• Answers:

Sample sent to

• linkId: NOS/SampleSentTo
• Definition:: Observation.valueString
• Answers:

Name of person who sent sample

• linkId: NOS/SampleSentToName
• Definition:: Observation.valueString
• Answers: