NHS North West Genomics
2.2.0 - ci-build
NHS North West Genomics
2.2.0 - ci-build
NHS North West Genomics - Local Development build (v2.2.0) built by the FHIR (HL7® FHIR® Standard) Build Tools. See the Directory of published versions
| Active as of 2026-09-08 |
{
"resourceType" : "CodeSystem",
"id" : "GenomicClinicalIndication",
"language" : "en",
"text" : {
"status" : "generated",
"div" : "<div xmlns=\"http://www.w3.org/1999/xhtml\"><p class=\"res-header-id\"><b>Generated Narrative: CodeSystem GenomicClinicalIndication</b></p><a name=\"GenomicClinicalIndication\"> </a><a name=\"hcGenomicClinicalIndication\"> </a><p>This case-sensitive code system <code>https://fhir.nwgenomics.nhs.uk/CodeSystem/GenomicClinicalIndication</code> provides <b>a fragment</b> that includes following codes:</p><table class=\"codes\"><tr><td style=\"white-space:nowrap\"><b>Code</b></td><td><b>Display</b></td></tr><tr><td style=\"white-space:nowrap\">R14<a name=\"GenomicClinicalIndication-R14\"> </a></td><td>Acutely unwell children with a likely monogenic disorder</td></tr><tr><td style=\"white-space:nowrap\">R15<a name=\"GenomicClinicalIndication-R15\"> </a></td><td>Primary immunodeficiency or monogenic inflammatory bowel disease</td></tr><tr><td style=\"white-space:nowrap\">R16<a name=\"GenomicClinicalIndication-R16\"> </a></td><td>Severe combined immunodeficiency with adenosine deaminase deficiency</td></tr><tr><td style=\"white-space:nowrap\">R17<a name=\"GenomicClinicalIndication-R17\"> </a></td><td>Lymphoproliferative syndrome with absent SAP expression</td></tr><tr><td style=\"white-space:nowrap\">R18<a name=\"GenomicClinicalIndication-R18\"> </a></td><td>Haemophagocytic syndrome with absent XIAP expression</td></tr><tr><td style=\"white-space:nowrap\">R19<a name=\"GenomicClinicalIndication-R19\"> </a></td><td>Autoimmune lymphoproliferative syndrome with defective apoptosis</td></tr><tr><td style=\"white-space:nowrap\">R20<a name=\"GenomicClinicalIndication-R20\"> </a></td><td>Wiskott-Aldrich syndrome</td></tr><tr><td style=\"white-space:nowrap\">R21<a name=\"GenomicClinicalIndication-R21\"> </a></td><td>Fetal anomalies with a likely genetic cause</td></tr><tr><td style=\"white-space:nowrap\">R22<a name=\"GenomicClinicalIndication-R22\"> </a></td><td>Fetus with a likely chromosomal abnormality</td></tr><tr><td style=\"white-space:nowrap\">R23<a name=\"GenomicClinicalIndication-R23\"> </a></td><td>Apert syndrome</td></tr><tr><td style=\"white-space:nowrap\">R24<a name=\"GenomicClinicalIndication-R24\"> </a></td><td>Achondroplasia</td></tr><tr><td style=\"white-space:nowrap\">R25<a name=\"GenomicClinicalIndication-R25\"> </a></td><td>Thanatophoric dysplasia</td></tr><tr><td style=\"white-space:nowrap\">R26<a name=\"GenomicClinicalIndication-R26\"> </a></td><td>Likely common aneuploidy</td></tr><tr><td style=\"white-space:nowrap\">R27<a name=\"GenomicClinicalIndication-R27\"> </a></td><td>Paediatric disorders</td></tr><tr><td style=\"white-space:nowrap\">R28<a name=\"GenomicClinicalIndication-R28\"> </a></td><td>Congenital malformation and dysmorphism syndromes</td></tr><tr><td style=\"white-space:nowrap\">R31<a name=\"GenomicClinicalIndication-R31\"> </a></td><td>Bilateral congenital or childhood onset cataracts</td></tr><tr><td style=\"white-space:nowrap\">R32<a name=\"GenomicClinicalIndication-R32\"> </a></td><td>Retinal disorders</td></tr><tr><td style=\"white-space:nowrap\">R33<a name=\"GenomicClinicalIndication-R33\"> </a></td><td>Possible X-linked retinitis pigmentosa</td></tr><tr><td style=\"white-space:nowrap\">R36<a name=\"GenomicClinicalIndication-R36\"> </a></td><td>Structural eye disease</td></tr><tr><td style=\"white-space:nowrap\">R38<a name=\"GenomicClinicalIndication-R38\"> </a></td><td>Sporadic aniridia</td></tr><tr><td style=\"white-space:nowrap\">R39<a name=\"GenomicClinicalIndication-R39\"> </a></td><td>Albinism or congenital nystagmus</td></tr><tr><td style=\"white-space:nowrap\">R41<a name=\"GenomicClinicalIndication-R41\"> </a></td><td>Optic neuropathy</td></tr><tr><td style=\"white-space:nowrap\">R42<a name=\"GenomicClinicalIndication-R42\"> </a></td><td>Leber hereditary optic neuropathy</td></tr><tr><td style=\"white-space:nowrap\">R43<a name=\"GenomicClinicalIndication-R43\"> </a></td><td>Blepharophimosis ptosis and epicanthus inversus</td></tr><tr><td style=\"white-space:nowrap\">R45<a name=\"GenomicClinicalIndication-R45\"> </a></td><td>Stickler syndrome</td></tr><tr><td style=\"white-space:nowrap\">R46<a name=\"GenomicClinicalIndication-R46\"> </a></td><td>Congenital fibrosis of the extraocular muscles</td></tr><tr><td style=\"white-space:nowrap\">R47<a name=\"GenomicClinicalIndication-R47\"> </a></td><td>Angelman syndrome</td></tr><tr><td style=\"white-space:nowrap\">R48<a name=\"GenomicClinicalIndication-R48\"> </a></td><td>Prader-Willi syndrome</td></tr><tr><td style=\"white-space:nowrap\">R49<a name=\"GenomicClinicalIndication-R49\"> </a></td><td>Beckwith-Wiedemann syndrome</td></tr><tr><td style=\"white-space:nowrap\">R50<a name=\"GenomicClinicalIndication-R50\"> </a></td><td>Isolated hemihypertrophy or macroglossia</td></tr><tr><td style=\"white-space:nowrap\">R52<a name=\"GenomicClinicalIndication-R52\"> </a></td><td>Short stature - SHOX deficiency</td></tr><tr><td style=\"white-space:nowrap\">R54<a name=\"GenomicClinicalIndication-R54\"> </a></td><td>Hereditary ataxia with onset in adulthood</td></tr><tr><td style=\"white-space:nowrap\">R55<a name=\"GenomicClinicalIndication-R55\"> </a></td><td>Hereditary ataxia with onset in childhood</td></tr><tr><td style=\"white-space:nowrap\">R56<a name=\"GenomicClinicalIndication-R56\"> </a></td><td>Adult onset dystonia, chorea or related movement disorder</td></tr><tr><td style=\"white-space:nowrap\">R57<a name=\"GenomicClinicalIndication-R57\"> </a></td><td>Childhood onset dystonia, chorea or related movement disorder</td></tr><tr><td style=\"white-space:nowrap\">R60<a name=\"GenomicClinicalIndication-R60\"> </a></td><td>Adult onset hereditary spastic paraplegia</td></tr><tr><td style=\"white-space:nowrap\">R61<a name=\"GenomicClinicalIndication-R61\"> </a></td><td>Childhood onset hereditary spastic paraplegia</td></tr><tr><td style=\"white-space:nowrap\">R62<a name=\"GenomicClinicalIndication-R62\"> </a></td><td>Adult onset leukodystrophy</td></tr><tr><td style=\"white-space:nowrap\">R63<a name=\"GenomicClinicalIndication-R63\"> </a></td><td>Possible mitochondrial disorder - nuclear genes</td></tr><tr><td style=\"white-space:nowrap\">R64<a name=\"GenomicClinicalIndication-R64\"> </a></td><td>MELAS or MIDD</td></tr><tr><td style=\"white-space:nowrap\">R65<a name=\"GenomicClinicalIndication-R65\"> </a></td><td>Aminoglycoside exposure posing risk to hearing</td></tr><tr><td style=\"white-space:nowrap\">R66<a name=\"GenomicClinicalIndication-R66\"> </a></td><td>Paroxysmal central nervous system disorders</td></tr><tr><td style=\"white-space:nowrap\">R67<a name=\"GenomicClinicalIndication-R67\"> </a></td><td>Monogenic hearing loss</td></tr><tr><td style=\"white-space:nowrap\">R68<a name=\"GenomicClinicalIndication-R68\"> </a></td><td>Huntington disease</td></tr><tr><td style=\"white-space:nowrap\">R69<a name=\"GenomicClinicalIndication-R69\"> </a></td><td>Hypotonic infant</td></tr><tr><td style=\"white-space:nowrap\">R70<a name=\"GenomicClinicalIndication-R70\"> </a></td><td>Spinal muscular atrophy type 1 diagnostic test</td></tr><tr><td style=\"white-space:nowrap\">R71<a name=\"GenomicClinicalIndication-R71\"> </a></td><td>Spinal muscular atrophy type 1 rare variant testing</td></tr><tr><td style=\"white-space:nowrap\">R72<a name=\"GenomicClinicalIndication-R72\"> </a></td><td>Myotonic dystrophy type 1</td></tr><tr><td style=\"white-space:nowrap\">R73<a name=\"GenomicClinicalIndication-R73\"> </a></td><td>Duchenne or Becker muscular dystrophy</td></tr><tr><td style=\"white-space:nowrap\">R74<a name=\"GenomicClinicalIndication-R74\"> </a></td><td>Facioscapulohumeral muscular dystrophy</td></tr><tr><td style=\"white-space:nowrap\">R75<a name=\"GenomicClinicalIndication-R75\"> </a></td><td>Oculopharyngeal muscular dystrophy</td></tr><tr><td style=\"white-space:nowrap\">R76<a name=\"GenomicClinicalIndication-R76\"> </a></td><td>Skeletal muscle channelopathy</td></tr><tr><td style=\"white-space:nowrap\">R77<a name=\"GenomicClinicalIndication-R77\"> </a></td><td>Hereditary neuropathy - PMP22 copy number</td></tr><tr><td style=\"white-space:nowrap\">R78<a name=\"GenomicClinicalIndication-R78\"> </a></td><td>Hereditary neuropathy or pain disorder</td></tr><tr><td style=\"white-space:nowrap\">R79<a name=\"GenomicClinicalIndication-R79\"> </a></td><td>Congenital muscular dystrophy</td></tr><tr><td style=\"white-space:nowrap\">R80<a name=\"GenomicClinicalIndication-R80\"> </a></td><td>Congenital myaesthenic syndrome</td></tr><tr><td style=\"white-space:nowrap\">R81<a name=\"GenomicClinicalIndication-R81\"> </a></td><td>Congenital myopathy</td></tr><tr><td style=\"white-space:nowrap\">R82<a name=\"GenomicClinicalIndication-R82\"> </a></td><td>Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies</td></tr><tr><td style=\"white-space:nowrap\">R83<a name=\"GenomicClinicalIndication-R83\"> </a></td><td>Arthrogryposis</td></tr><tr><td style=\"white-space:nowrap\">R84<a name=\"GenomicClinicalIndication-R84\"> </a></td><td>Cerebellar anomalies</td></tr><tr><td style=\"white-space:nowrap\">R85<a name=\"GenomicClinicalIndication-R85\"> </a></td><td>Holoprosencephaly - NOT chromosomal</td></tr><tr><td style=\"white-space:nowrap\">R86<a name=\"GenomicClinicalIndication-R86\"> </a></td><td>Hydrocephalus</td></tr><tr><td style=\"white-space:nowrap\">R87<a name=\"GenomicClinicalIndication-R87\"> </a></td><td>Cerebral malformation</td></tr><tr><td style=\"white-space:nowrap\">R88<a name=\"GenomicClinicalIndication-R88\"> </a></td><td>Severe microcephaly</td></tr><tr><td style=\"white-space:nowrap\">R89<a name=\"GenomicClinicalIndication-R89\"> </a></td><td>Ultra-rare and atypical monogenic disorders</td></tr><tr><td style=\"white-space:nowrap\">R90<a name=\"GenomicClinicalIndication-R90\"> </a></td><td>Bleeding and platelet disorders</td></tr><tr><td style=\"white-space:nowrap\">R91<a name=\"GenomicClinicalIndication-R91\"> </a></td><td>Cytopenia - NOT Fanconi anaemia</td></tr><tr><td style=\"white-space:nowrap\">R92<a name=\"GenomicClinicalIndication-R92\"> </a></td><td>Rare anaemia</td></tr><tr><td style=\"white-space:nowrap\">R93<a name=\"GenomicClinicalIndication-R93\"> </a></td><td>Sickle cell, thalassaemia and other haemoglobinopathies</td></tr><tr><td style=\"white-space:nowrap\">R95<a name=\"GenomicClinicalIndication-R95\"> </a></td><td>Iron overload - hereditary haemochromatosis testing</td></tr><tr><td style=\"white-space:nowrap\">R96<a name=\"GenomicClinicalIndication-R96\"> </a></td><td>Iron metabolism disorders - NOT common HFE variants</td></tr><tr><td style=\"white-space:nowrap\">R97<a name=\"GenomicClinicalIndication-R97\"> </a></td><td>Thrombophilia with a likely monogenic cause</td></tr><tr><td style=\"white-space:nowrap\">R98<a name=\"GenomicClinicalIndication-R98\"> </a></td><td>Likely inborn error of metabolism</td></tr><tr><td style=\"white-space:nowrap\">R99<a name=\"GenomicClinicalIndication-R99\"> </a></td><td>Common craniosynostosis syndromes</td></tr><tr><td style=\"white-space:nowrap\">R100<a name=\"GenomicClinicalIndication-R100\"> </a></td><td>Rare syndromic craniosynostosis or isolated multisuture synostosis</td></tr><tr><td style=\"white-space:nowrap\">R101<a name=\"GenomicClinicalIndication-R101\"> </a></td><td>Ehlers Danlos syndrome with a likely monogenic cause</td></tr><tr><td style=\"white-space:nowrap\">R102<a name=\"GenomicClinicalIndication-R102\"> </a></td><td>Osteogenesis imperfecta</td></tr><tr><td style=\"white-space:nowrap\">R104<a name=\"GenomicClinicalIndication-R104\"> </a></td><td>Skeletal dysplasia</td></tr><tr><td style=\"white-space:nowrap\">R105<a name=\"GenomicClinicalIndication-R105\"> </a></td><td>MCADD - Medium-chain acyl-CoA dehydrogenase deficiency – common variant newborn screening follow up</td></tr><tr><td style=\"white-space:nowrap\">R106<a name=\"GenomicClinicalIndication-R106\"> </a></td><td>Alstrom syndrome</td></tr><tr><td style=\"white-space:nowrap\">R107<a name=\"GenomicClinicalIndication-R107\"> </a></td><td>Bardet Biedl syndrome</td></tr><tr><td style=\"white-space:nowrap\">R109<a name=\"GenomicClinicalIndication-R109\"> </a></td><td>Childhood onset leukodystrophy</td></tr><tr><td style=\"white-space:nowrap\">R110<a name=\"GenomicClinicalIndication-R110\"> </a></td><td>Segmental overgrowth disorders - Deep sequencing</td></tr><tr><td style=\"white-space:nowrap\">R111<a name=\"GenomicClinicalIndication-R111\"> </a></td><td>X-inactivation testing</td></tr><tr><td style=\"white-space:nowrap\">R112<a name=\"GenomicClinicalIndication-R112\"> </a></td><td>Factor II deficiency</td></tr><tr><td style=\"white-space:nowrap\">R115<a name=\"GenomicClinicalIndication-R115\"> </a></td><td>Factor V deficiency</td></tr><tr><td style=\"white-space:nowrap\">R116<a name=\"GenomicClinicalIndication-R116\"> </a></td><td>Factor VII deficiency</td></tr><tr><td style=\"white-space:nowrap\">R117<a name=\"GenomicClinicalIndication-R117\"> </a></td><td>Factor VIII deficiency</td></tr><tr><td style=\"white-space:nowrap\">R118<a name=\"GenomicClinicalIndication-R118\"> </a></td><td>Factor IX deficiency</td></tr><tr><td style=\"white-space:nowrap\">R119<a name=\"GenomicClinicalIndication-R119\"> </a></td><td>Factor X deficiency</td></tr><tr><td style=\"white-space:nowrap\">R120<a name=\"GenomicClinicalIndication-R120\"> </a></td><td>Factor XI deficiency</td></tr><tr><td style=\"white-space:nowrap\">R121<a name=\"GenomicClinicalIndication-R121\"> </a></td><td>von Willebrand disease</td></tr><tr><td style=\"white-space:nowrap\">R122<a name=\"GenomicClinicalIndication-R122\"> </a></td><td>Factor XIII deficiency</td></tr><tr><td style=\"white-space:nowrap\">R123<a name=\"GenomicClinicalIndication-R123\"> </a></td><td>Combined vitamin K-dependent clotting factor deficiency</td></tr><tr><td style=\"white-space:nowrap\">R124<a name=\"GenomicClinicalIndication-R124\"> </a></td><td>Combined factor V and VIII deficiency</td></tr><tr><td style=\"white-space:nowrap\">R125<a name=\"GenomicClinicalIndication-R125\"> </a></td><td>Thoracic aortic aneurysm or dissection</td></tr><tr><td style=\"white-space:nowrap\">R127<a name=\"GenomicClinicalIndication-R127\"> </a></td><td>Long QT syndrome</td></tr><tr><td style=\"white-space:nowrap\">R128<a name=\"GenomicClinicalIndication-R128\"> </a></td><td>Brugada syndrome and cardiac sodium channel disease</td></tr><tr><td style=\"white-space:nowrap\">R129<a name=\"GenomicClinicalIndication-R129\"> </a></td><td>Catecholaminergic polymorphic VT</td></tr><tr><td style=\"white-space:nowrap\">R130<a name=\"GenomicClinicalIndication-R130\"> </a></td><td>Short QT syndrome</td></tr><tr><td style=\"white-space:nowrap\">R131<a name=\"GenomicClinicalIndication-R131\"> </a></td><td>Hypertrophic cardiomyopathy</td></tr><tr><td style=\"white-space:nowrap\">R132<a name=\"GenomicClinicalIndication-R132\"> </a></td><td>Dilated and Arrhythmogenic cardiomyopathy</td></tr><tr><td style=\"white-space:nowrap\">R133<a name=\"GenomicClinicalIndication-R133\"> </a></td><td>Arrhythmogenic right ventricular cardiomyopathy</td></tr><tr><td style=\"white-space:nowrap\">R134<a name=\"GenomicClinicalIndication-R134\"> </a></td><td>Familial hypercholesterolaemia</td></tr><tr><td style=\"white-space:nowrap\">R135<a name=\"GenomicClinicalIndication-R135\"> </a></td><td>Paediatric or syndromic cardiomyopathy</td></tr><tr><td style=\"white-space:nowrap\">R136<a name=\"GenomicClinicalIndication-R136\"> </a></td><td>Primary lymphoedema</td></tr><tr><td style=\"white-space:nowrap\">R137<a name=\"GenomicClinicalIndication-R137\"> </a></td><td>Congenital heart disease - microarray</td></tr><tr><td style=\"white-space:nowrap\">R138<a name=\"GenomicClinicalIndication-R138\"> </a></td><td>Sudden unexplained death or survivors of a cardiac event</td></tr><tr><td style=\"white-space:nowrap\">R139<a name=\"GenomicClinicalIndication-R139\"> </a></td><td>Laterality disorders and isomerism</td></tr><tr><td style=\"white-space:nowrap\">R140<a name=\"GenomicClinicalIndication-R140\"> </a></td><td>Elastin-related phenotypes</td></tr><tr><td style=\"white-space:nowrap\">R141<a name=\"GenomicClinicalIndication-R141\"> </a></td><td>Monogenic diabetes</td></tr><tr><td style=\"white-space:nowrap\">R142<a name=\"GenomicClinicalIndication-R142\"> </a></td><td>Glucokinase-related fasting hyperglycaemia</td></tr><tr><td style=\"white-space:nowrap\">R143<a name=\"GenomicClinicalIndication-R143\"> </a></td><td>Neonatal diabetes</td></tr><tr><td style=\"white-space:nowrap\">R144<a name=\"GenomicClinicalIndication-R144\"> </a></td><td>Congenital hyperinsulinism</td></tr><tr><td style=\"white-space:nowrap\">R145<a name=\"GenomicClinicalIndication-R145\"> </a></td><td>Congenital hypothyroidism</td></tr><tr><td style=\"white-space:nowrap\">R146<a name=\"GenomicClinicalIndication-R146\"> </a></td><td>Differences in sex development</td></tr><tr><td style=\"white-space:nowrap\">R148<a name=\"GenomicClinicalIndication-R148\"> </a></td><td>Hypogonadotropic hypogonadism</td></tr><tr><td style=\"white-space:nowrap\">R149<a name=\"GenomicClinicalIndication-R149\"> </a></td><td>Severe early-onset obesity</td></tr><tr><td style=\"white-space:nowrap\">R150<a name=\"GenomicClinicalIndication-R150\"> </a></td><td>Congenital adrenal hypoplasia</td></tr><tr><td style=\"white-space:nowrap\">R151<a name=\"GenomicClinicalIndication-R151\"> </a></td><td>Familial hyperparathyroidism or Hypocalciuric hypercalcaemia</td></tr><tr><td style=\"white-space:nowrap\">R153<a name=\"GenomicClinicalIndication-R153\"> </a></td><td>Familial hypoparathyroidism</td></tr><tr><td style=\"white-space:nowrap\">R154<a name=\"GenomicClinicalIndication-R154\"> </a></td><td>Hypophosphataemia or rickets</td></tr><tr><td style=\"white-space:nowrap\">R155<a name=\"GenomicClinicalIndication-R155\"> </a></td><td>Autoimmune Polyendocrine Syndrome</td></tr><tr><td style=\"white-space:nowrap\">R156<a name=\"GenomicClinicalIndication-R156\"> </a></td><td>Carney complex</td></tr><tr><td style=\"white-space:nowrap\">R157<a name=\"GenomicClinicalIndication-R157\"> </a></td><td>IPEX - Immunodysregulation Polyendocrinopathy and Enteropathy, X-Linked</td></tr><tr><td style=\"white-space:nowrap\">R158<a name=\"GenomicClinicalIndication-R158\"> </a></td><td>Severe insulin resistance and lipodystrophy syndromes</td></tr><tr><td style=\"white-space:nowrap\">R159<a name=\"GenomicClinicalIndication-R159\"> </a></td><td>Pituitary hormone deficiency</td></tr><tr><td style=\"white-space:nowrap\">R160<a name=\"GenomicClinicalIndication-R160\"> </a></td><td>Primary pigmented nodular adrenocortical disease</td></tr><tr><td style=\"white-space:nowrap\">R162<a name=\"GenomicClinicalIndication-R162\"> </a></td><td>Familial tumoral calcinosis</td></tr><tr><td style=\"white-space:nowrap\">R163<a name=\"GenomicClinicalIndication-R163\"> </a></td><td>Ectodermal dysplasia</td></tr><tr><td style=\"white-space:nowrap\">R164<a name=\"GenomicClinicalIndication-R164\"> </a></td><td>Epidermolysis bullosa and congenital skin fragility</td></tr><tr><td style=\"white-space:nowrap\">R165<a name=\"GenomicClinicalIndication-R165\"> </a></td><td>Ichthyosis and erythrokeratoderma</td></tr><tr><td style=\"white-space:nowrap\">R166<a name=\"GenomicClinicalIndication-R166\"> </a></td><td>Palmoplantar keratodermas</td></tr><tr><td style=\"white-space:nowrap\">R167<a name=\"GenomicClinicalIndication-R167\"> </a></td><td>Autosomal recessive primary hypertrophic osteoarthropathy</td></tr><tr><td style=\"white-space:nowrap\">R168<a name=\"GenomicClinicalIndication-R168\"> </a></td><td>Non-acute porphyrias</td></tr><tr><td style=\"white-space:nowrap\">R169<a name=\"GenomicClinicalIndication-R169\"> </a></td><td>Acute intermittent porphyria</td></tr><tr><td style=\"white-space:nowrap\">R170<a name=\"GenomicClinicalIndication-R170\"> </a></td><td>Variegate porphyria</td></tr><tr><td style=\"white-space:nowrap\">R171<a name=\"GenomicClinicalIndication-R171\"> </a></td><td>Cholestasis</td></tr><tr><td style=\"white-space:nowrap\">R172<a name=\"GenomicClinicalIndication-R172\"> </a></td><td>Wilson disease</td></tr><tr><td style=\"white-space:nowrap\">R173<a name=\"GenomicClinicalIndication-R173\"> </a></td><td>Polycystic liver disease</td></tr><tr><td style=\"white-space:nowrap\">R175<a name=\"GenomicClinicalIndication-R175\"> </a></td><td>Pancreatitis</td></tr><tr><td style=\"white-space:nowrap\">R176<a name=\"GenomicClinicalIndication-R176\"> </a></td><td>Gilbert syndrome</td></tr><tr><td style=\"white-space:nowrap\">R180<a name=\"GenomicClinicalIndication-R180\"> </a></td><td>Congenital adrenal hyperplasia diagnostic test</td></tr><tr><td style=\"white-space:nowrap\">R181<a name=\"GenomicClinicalIndication-R181\"> </a></td><td>Congenital adrenal hyperplasia carrier testing</td></tr><tr><td style=\"white-space:nowrap\">R182<a name=\"GenomicClinicalIndication-R182\"> </a></td><td>Hyperthyroidism</td></tr><tr><td style=\"white-space:nowrap\">R183<a name=\"GenomicClinicalIndication-R183\"> </a></td><td>Glucocorticoid-remediable aldosteronism (GRA)</td></tr><tr><td style=\"white-space:nowrap\">R184<a name=\"GenomicClinicalIndication-R184\"> </a></td><td>Cystic fibrosis diagnostic test</td></tr><tr><td style=\"white-space:nowrap\">R185<a name=\"GenomicClinicalIndication-R185\"> </a></td><td>Cystic fibrosis carrier testing</td></tr><tr><td style=\"white-space:nowrap\">R186<a name=\"GenomicClinicalIndication-R186\"> </a></td><td>Hereditary haemorrhagic telangiectasia</td></tr><tr><td style=\"white-space:nowrap\">R188<a name=\"GenomicClinicalIndication-R188\"> </a></td><td>Pulmonary arterial hypertension</td></tr><tr><td style=\"white-space:nowrap\">R189<a name=\"GenomicClinicalIndication-R189\"> </a></td><td>Respiratory ciliopathies including non-CF bronchiectasis</td></tr><tr><td style=\"white-space:nowrap\">R190<a name=\"GenomicClinicalIndication-R190\"> </a></td><td>Pneumothorax - familial</td></tr><tr><td style=\"white-space:nowrap\">R191<a name=\"GenomicClinicalIndication-R191\"> </a></td><td>Alpha-1-antitrypsin deficiency</td></tr><tr><td style=\"white-space:nowrap\">R193<a name=\"GenomicClinicalIndication-R193\"> </a></td><td>Cystic renal disease</td></tr><tr><td style=\"white-space:nowrap\">R194<a name=\"GenomicClinicalIndication-R194\"> </a></td><td>Haematuria</td></tr><tr><td style=\"white-space:nowrap\">R195<a name=\"GenomicClinicalIndication-R195\"> </a></td><td>Proteinuric renal disease</td></tr><tr><td style=\"white-space:nowrap\">R196<a name=\"GenomicClinicalIndication-R196\"> </a></td><td>CFHR5 nephropathy</td></tr><tr><td style=\"white-space:nowrap\">R197<a name=\"GenomicClinicalIndication-R197\"> </a></td><td>Membranoproliferative glomerulonephritis including C3 glomerulopathy</td></tr><tr><td style=\"white-space:nowrap\">R198<a name=\"GenomicClinicalIndication-R198\"> </a></td><td>Renal tubulopathies</td></tr><tr><td style=\"white-space:nowrap\">R199<a name=\"GenomicClinicalIndication-R199\"> </a></td><td>Congenital anomalies of the kidney and urinary tract - familial</td></tr><tr><td style=\"white-space:nowrap\">R201<a name=\"GenomicClinicalIndication-R201\"> </a></td><td>Atypical haemolytic uraemic syndrome</td></tr><tr><td style=\"white-space:nowrap\">R202<a name=\"GenomicClinicalIndication-R202\"> </a></td><td>Tubulointerstitial kidney disease</td></tr><tr><td style=\"white-space:nowrap\">R204<a name=\"GenomicClinicalIndication-R204\"> </a></td><td>Hereditary Systemic Amyloidosis</td></tr><tr><td style=\"white-space:nowrap\">R207<a name=\"GenomicClinicalIndication-R207\"> </a></td><td>Inherited ovarian cancer (without breast cancer)</td></tr><tr><td style=\"white-space:nowrap\">R208<a name=\"GenomicClinicalIndication-R208\"> </a></td><td>Inherited breast cancer and ovarian cancer</td></tr><tr><td style=\"white-space:nowrap\">R210<a name=\"GenomicClinicalIndication-R210\"> </a></td><td>Inherited MMR deficiency (Lynch syndrome)</td></tr><tr><td style=\"white-space:nowrap\">R211<a name=\"GenomicClinicalIndication-R211\"> </a></td><td>Inherited polyposis and early onset colorectal cancer - germline testing</td></tr><tr><td style=\"white-space:nowrap\">R212<a name=\"GenomicClinicalIndication-R212\"> </a></td><td>Peutz Jeghers Syndrome</td></tr><tr><td style=\"white-space:nowrap\">R213<a name=\"GenomicClinicalIndication-R213\"> </a></td><td>PTEN Hamartoma Tumor Syndrome</td></tr><tr><td style=\"white-space:nowrap\">R214<a name=\"GenomicClinicalIndication-R214\"> </a></td><td>Nevoid Basal Cell Carcinoma Syndrome or Gorlin syndrome</td></tr><tr><td style=\"white-space:nowrap\">R215<a name=\"GenomicClinicalIndication-R215\"> </a></td><td>Hereditary diffuse gastric cancer</td></tr><tr><td style=\"white-space:nowrap\">R216<a name=\"GenomicClinicalIndication-R216\"> </a></td><td>Li Fraumeni Syndrome</td></tr><tr><td style=\"white-space:nowrap\">R217<a name=\"GenomicClinicalIndication-R217\"> </a></td><td>Endocrine neoplasia</td></tr><tr><td style=\"white-space:nowrap\">R218<a name=\"GenomicClinicalIndication-R218\"> </a></td><td>Multiple endocrine neoplasia type 2</td></tr><tr><td style=\"white-space:nowrap\">R219<a name=\"GenomicClinicalIndication-R219\"> </a></td><td>Retinoblastoma</td></tr><tr><td style=\"white-space:nowrap\">R221<a name=\"GenomicClinicalIndication-R221\"> </a></td><td>Familial tumours of the nervous system</td></tr><tr><td style=\"white-space:nowrap\">R222<a name=\"GenomicClinicalIndication-R222\"> </a></td><td>Neurofibromatosis type 1</td></tr><tr><td style=\"white-space:nowrap\">R223<a name=\"GenomicClinicalIndication-R223\"> </a></td><td>Inherited phaeochromocytoma and paraganglioma excluding NF1</td></tr><tr><td style=\"white-space:nowrap\">R224<a name=\"GenomicClinicalIndication-R224\"> </a></td><td>Inherited renal cancer</td></tr><tr><td style=\"white-space:nowrap\">R225<a name=\"GenomicClinicalIndication-R225\"> </a></td><td>Von Hippel Lindau syndrome</td></tr><tr><td style=\"white-space:nowrap\">R226<a name=\"GenomicClinicalIndication-R226\"> </a></td><td>Inherited parathyroid cancer</td></tr><tr><td style=\"white-space:nowrap\">R227<a name=\"GenomicClinicalIndication-R227\"> </a></td><td>Xeroderma pigmentosum, Trichothiodystrophy or Cockayne syndrome</td></tr><tr><td style=\"white-space:nowrap\">R228<a name=\"GenomicClinicalIndication-R228\"> </a></td><td>Tuberous sclerosis</td></tr><tr><td style=\"white-space:nowrap\">R229<a name=\"GenomicClinicalIndication-R229\"> </a></td><td>Confirmed Fanconi anaemia or Bloom syndrome - variant testing</td></tr><tr><td style=\"white-space:nowrap\">R230<a name=\"GenomicClinicalIndication-R230\"> </a></td><td>Multiple monogenic benign skin tumours</td></tr><tr><td style=\"white-space:nowrap\">R231<a name=\"GenomicClinicalIndication-R231\"> </a></td><td>Neuronal ceroid lipofuscinosis</td></tr><tr><td style=\"white-space:nowrap\">R232<a name=\"GenomicClinicalIndication-R232\"> </a></td><td>Haemophagocytic syndrome with absent perforin expression</td></tr><tr><td style=\"white-space:nowrap\">R233<a name=\"GenomicClinicalIndication-R233\"> </a></td><td>Agammaglobulinaemia with absent BTK expression</td></tr><tr><td style=\"white-space:nowrap\">R234<a name=\"GenomicClinicalIndication-R234\"> </a></td><td>Severe combined immunodeficiency with PNP deficiency</td></tr><tr><td style=\"white-space:nowrap\">R235<a name=\"GenomicClinicalIndication-R235\"> </a></td><td>SCID with features of gamma chain deficiency</td></tr><tr><td style=\"white-space:nowrap\">R236<a name=\"GenomicClinicalIndication-R236\"> </a></td><td>Pigmentary skin disorders</td></tr><tr><td style=\"white-space:nowrap\">R237<a name=\"GenomicClinicalIndication-R237\"> </a></td><td>Cutaneous photosensitivity with a likely genetic cause</td></tr><tr><td style=\"white-space:nowrap\">R239<a name=\"GenomicClinicalIndication-R239\"> </a></td><td>Incontinentia pigmenti</td></tr><tr><td style=\"white-space:nowrap\">R240<a name=\"GenomicClinicalIndication-R240\"> </a></td><td>Diagnostic testing for known variant(s)</td></tr><tr><td style=\"white-space:nowrap\">R242<a name=\"GenomicClinicalIndication-R242\"> </a></td><td>Predictive testing for known familial variant(s)</td></tr><tr><td style=\"white-space:nowrap\">R244<a name=\"GenomicClinicalIndication-R244\"> </a></td><td>Carrier testing for known familial variant(s)</td></tr><tr><td style=\"white-space:nowrap\">R246<a name=\"GenomicClinicalIndication-R246\"> </a></td><td>Carrier testing at population risk for partners of known carriers of nationally agreed autosomal recessive disorders</td></tr><tr><td style=\"white-space:nowrap\">R249<a name=\"GenomicClinicalIndication-R249\"> </a></td><td>NIPD using paternal exclusion testing for very rare conditions where familial variant is known</td></tr><tr><td style=\"white-space:nowrap\">R250<a name=\"GenomicClinicalIndication-R250\"> </a></td><td>NIPD for congenital adrenal hyperplasia - CYP21A2 haplotype testing</td></tr><tr><td style=\"white-space:nowrap\">R251<a name=\"GenomicClinicalIndication-R251\"> </a></td><td>Non-invasive prenatal sexing</td></tr><tr><td style=\"white-space:nowrap\">R252<a name=\"GenomicClinicalIndication-R252\"> </a></td><td>SMA carrier testing at population risk for partners of known carriers</td></tr><tr><td style=\"white-space:nowrap\">R253<a name=\"GenomicClinicalIndication-R253\"> </a></td><td>Cystic fibrosis newborn screening follow-up</td></tr><tr><td style=\"white-space:nowrap\">R254<a name=\"GenomicClinicalIndication-R254\"> </a></td><td>Familial melanoma</td></tr><tr><td style=\"white-space:nowrap\">R255<a name=\"GenomicClinicalIndication-R255\"> </a></td><td>Epidermodysplasia verruciformis</td></tr><tr><td style=\"white-space:nowrap\">R256<a name=\"GenomicClinicalIndication-R256\"> </a></td><td>Nephrocalcinosis or nephrolithiasis</td></tr><tr><td style=\"white-space:nowrap\">R257<a name=\"GenomicClinicalIndication-R257\"> </a></td><td>Unexplained young onset end-stage renal disease</td></tr><tr><td style=\"white-space:nowrap\">R258<a name=\"GenomicClinicalIndication-R258\"> </a></td><td>Cytopenia - Fanconi breakage testing indicated</td></tr><tr><td style=\"white-space:nowrap\">R259<a name=\"GenomicClinicalIndication-R259\"> </a></td><td>Nijmegen breakage syndrome</td></tr><tr><td style=\"white-space:nowrap\">R260<a name=\"GenomicClinicalIndication-R260\"> </a></td><td>Fanconi anaemia or Bloom syndrome - chromosome breakage testing</td></tr><tr><td style=\"white-space:nowrap\">R262<a name=\"GenomicClinicalIndication-R262\"> </a></td><td>Corneal dystrophy</td></tr><tr><td style=\"white-space:nowrap\">R263<a name=\"GenomicClinicalIndication-R263\"> </a></td><td>Confirmation of uniparental disomy</td></tr><tr><td style=\"white-space:nowrap\">R264<a name=\"GenomicClinicalIndication-R264\"> </a></td><td>Identity testing</td></tr><tr><td style=\"white-space:nowrap\">R265<a name=\"GenomicClinicalIndication-R265\"> </a></td><td>Chromosomal mosaicism - karyotype</td></tr><tr><td style=\"white-space:nowrap\">R268<a name=\"GenomicClinicalIndication-R268\"> </a></td><td>Kagami-Ogata syndrome - paternal uniparental disomy 14</td></tr><tr><td style=\"white-space:nowrap\">R270<a name=\"GenomicClinicalIndication-R270\"> </a></td><td>Smith-Lemli-Opitz syndrome</td></tr><tr><td style=\"white-space:nowrap\">R271<a name=\"GenomicClinicalIndication-R271\"> </a></td><td>Neuronal ceroid lipofuscinosis type 2</td></tr><tr><td style=\"white-space:nowrap\">R272<a name=\"GenomicClinicalIndication-R272\"> </a></td><td>Gaucher disease</td></tr><tr><td style=\"white-space:nowrap\">R273<a name=\"GenomicClinicalIndication-R273\"> </a></td><td>Glycogen storage disease V</td></tr><tr><td style=\"white-space:nowrap\">R274<a name=\"GenomicClinicalIndication-R274\"> </a></td><td>Glycogen storage disease</td></tr><tr><td style=\"white-space:nowrap\">R275<a name=\"GenomicClinicalIndication-R275\"> </a></td><td>Glutaric acidaemia I newborn screening follow up</td></tr><tr><td style=\"white-space:nowrap\">R276<a name=\"GenomicClinicalIndication-R276\"> </a></td><td>Lysosomal storage disorder</td></tr><tr><td style=\"white-space:nowrap\">R277<a name=\"GenomicClinicalIndication-R277\"> </a></td><td>Mucopolysaccharidosis type IH/S</td></tr><tr><td style=\"white-space:nowrap\">R278<a name=\"GenomicClinicalIndication-R278\"> </a></td><td>Mucopolysaccharidosis type II</td></tr><tr><td style=\"white-space:nowrap\">R279<a name=\"GenomicClinicalIndication-R279\"> </a></td><td>Isovaleric acidaemia newborn screening follow up</td></tr><tr><td style=\"white-space:nowrap\">R280<a name=\"GenomicClinicalIndication-R280\"> </a></td><td>Krabbe disease – GALC deficiency</td></tr><tr><td style=\"white-space:nowrap\">R281<a name=\"GenomicClinicalIndication-R281\"> </a></td><td>Krabbe disease - Saposin A deficiency</td></tr><tr><td style=\"white-space:nowrap\">R282<a name=\"GenomicClinicalIndication-R282\"> </a></td><td>Niemann-Pick disease type A or B</td></tr><tr><td style=\"white-space:nowrap\">R283<a name=\"GenomicClinicalIndication-R283\"> </a></td><td>Phenylketonuria</td></tr><tr><td style=\"white-space:nowrap\">R285<a name=\"GenomicClinicalIndication-R285\"> </a></td><td>Sandhoff disease</td></tr><tr><td style=\"white-space:nowrap\">R286<a name=\"GenomicClinicalIndication-R286\"> </a></td><td>Tay-Sachs disease</td></tr><tr><td style=\"white-space:nowrap\">R287<a name=\"GenomicClinicalIndication-R287\"> </a></td><td>Mucopolysaccharidosis type IVA</td></tr><tr><td style=\"white-space:nowrap\">R288<a name=\"GenomicClinicalIndication-R288\"> </a></td><td>GM1 Gangliosidosis and Mucopolysaccharidosis Type IVB</td></tr><tr><td style=\"white-space:nowrap\">R289<a name=\"GenomicClinicalIndication-R289\"> </a></td><td>Mucolipidosis II and III Alpha/Beta</td></tr><tr><td style=\"white-space:nowrap\">R290<a name=\"GenomicClinicalIndication-R290\"> </a></td><td>Mucopolysaccharidosis type VI</td></tr><tr><td style=\"white-space:nowrap\">R291<a name=\"GenomicClinicalIndication-R291\"> </a></td><td>Mucopolysaccharidosis type IIIA</td></tr><tr><td style=\"white-space:nowrap\">R292<a name=\"GenomicClinicalIndication-R292\"> </a></td><td>Mucopolysaccharidosis type IIIB</td></tr><tr><td style=\"white-space:nowrap\">R293<a name=\"GenomicClinicalIndication-R293\"> </a></td><td>Albright hereditary osteodystrophy, pseudohypoparathyroidism, pseudopseudohypoparathyroidism, acrodysostosis and osteoma cutis</td></tr><tr><td style=\"white-space:nowrap\">R294<a name=\"GenomicClinicalIndication-R294\"> </a></td><td>Ataxia telangiectasia - DNA repair testing</td></tr><tr><td style=\"white-space:nowrap\">R295<a name=\"GenomicClinicalIndication-R295\"> </a></td><td>Ataxia telangiectasia - variant testing</td></tr><tr><td style=\"white-space:nowrap\">R296<a name=\"GenomicClinicalIndication-R296\"> </a></td><td>RNA analysis of variants</td></tr><tr><td style=\"white-space:nowrap\">R298<a name=\"GenomicClinicalIndication-R298\"> </a></td><td>Possible structural or mosaic chromosomal abnormality - FISH</td></tr><tr><td style=\"white-space:nowrap\">R299<a name=\"GenomicClinicalIndication-R299\"> </a></td><td>Possible mitochondrial disorder - mitochondrial DNA rearrangement testing</td></tr><tr><td style=\"white-space:nowrap\">R300<a name=\"GenomicClinicalIndication-R300\"> </a></td><td>Possible mitochondrial disorder - whole mitochondrial genome sequencing</td></tr><tr><td style=\"white-space:nowrap\">R301<a name=\"GenomicClinicalIndication-R301\"> </a></td><td>Possible mitochondrial disorder - mitochondrial DNA depletion testing</td></tr><tr><td style=\"white-space:nowrap\">R304<a name=\"GenomicClinicalIndication-R304\"> </a></td><td>NIPD for cystic fibrosis - haplotype testing</td></tr><tr><td style=\"white-space:nowrap\">R305<a name=\"GenomicClinicalIndication-R305\"> </a></td><td>NIPD for cystic fibrosis - variant testing</td></tr><tr><td style=\"white-space:nowrap\">R306<a name=\"GenomicClinicalIndication-R306\"> </a></td><td>NIPD for Apert syndrome - variant testing</td></tr><tr><td style=\"white-space:nowrap\">R307<a name=\"GenomicClinicalIndication-R307\"> </a></td><td>NIPD for Crouzon syndrome with acanthosis nigricans - variant testing</td></tr><tr><td style=\"white-space:nowrap\">R308<a name=\"GenomicClinicalIndication-R308\"> </a></td><td>NIPD for FGFR2-related craniosynostosis syndromes - variant testing</td></tr><tr><td style=\"white-space:nowrap\">R309<a name=\"GenomicClinicalIndication-R309\"> </a></td><td>NIPD for FGFR3-related skeletal dysplasias - variant testing</td></tr><tr><td style=\"white-space:nowrap\">R310<a name=\"GenomicClinicalIndication-R310\"> </a></td><td>NIPD for Duchenne and Becker muscular dystrophy - haplotype testing</td></tr><tr><td style=\"white-space:nowrap\">R311<a name=\"GenomicClinicalIndication-R311\"> </a></td><td>NIPD for spinal muscular atrophy - variant testing</td></tr><tr><td style=\"white-space:nowrap\">R312<a name=\"GenomicClinicalIndication-R312\"> </a></td><td>Parental sequencing for lethal autosomal recessive disorders</td></tr><tr><td style=\"white-space:nowrap\">R313<a name=\"GenomicClinicalIndication-R313\"> </a></td><td>Neutropaenia consistent with ELANE variants</td></tr><tr><td style=\"white-space:nowrap\">R314<a name=\"GenomicClinicalIndication-R314\"> </a></td><td>Ambiguous genitalia</td></tr><tr><td style=\"white-space:nowrap\">R315<a name=\"GenomicClinicalIndication-R315\"> </a></td><td>POLG-related disorder</td></tr><tr><td style=\"white-space:nowrap\">R316<a name=\"GenomicClinicalIndication-R316\"> </a></td><td>Pyruvate dehydrogenase (PDH) deficiency</td></tr><tr><td style=\"white-space:nowrap\">R317<a name=\"GenomicClinicalIndication-R317\"> </a></td><td>Mitochondrial liver disease, including transient infantile liver failure</td></tr><tr><td style=\"white-space:nowrap\">R318<a name=\"GenomicClinicalIndication-R318\"> </a></td><td>Recurrent miscarriage with products of conception available for testing</td></tr><tr><td style=\"white-space:nowrap\">R319<a name=\"GenomicClinicalIndication-R319\"> </a></td><td>Calcium-sensing receptor phenotypes</td></tr><tr><td style=\"white-space:nowrap\">R320<a name=\"GenomicClinicalIndication-R320\"> </a></td><td>Invasive prenatal diagnosis requiring fetal sexing</td></tr><tr><td style=\"white-space:nowrap\">R321<a name=\"GenomicClinicalIndication-R321\"> </a></td><td>Maternal cell contamination testing</td></tr><tr><td style=\"white-space:nowrap\">R322<a name=\"GenomicClinicalIndication-R322\"> </a></td><td>Skin fibroblasts to be cultured and stored</td></tr><tr><td style=\"white-space:nowrap\">R323<a name=\"GenomicClinicalIndication-R323\"> </a></td><td>Sitosterolaemia</td></tr><tr><td style=\"white-space:nowrap\">R324<a name=\"GenomicClinicalIndication-R324\"> </a></td><td>Familial Chylomicronaemia Syndrome (FCS)</td></tr><tr><td style=\"white-space:nowrap\">R325<a name=\"GenomicClinicalIndication-R325\"> </a></td><td>Lysosomal acid lipase deficiency</td></tr><tr><td style=\"white-space:nowrap\">R326<a name=\"GenomicClinicalIndication-R326\"> </a></td><td>Vascular skin disorders</td></tr><tr><td style=\"white-space:nowrap\">R327<a name=\"GenomicClinicalIndication-R327\"> </a></td><td>Mosaic skin disorders - deep sequencing</td></tr><tr><td style=\"white-space:nowrap\">R328<a name=\"GenomicClinicalIndication-R328\"> </a></td><td>Progressive cardiac conduction disease</td></tr><tr><td style=\"white-space:nowrap\">R329<a name=\"GenomicClinicalIndication-R329\"> </a></td><td>Familial dysalbuminaemic hyperthyroxinaemia</td></tr><tr><td style=\"white-space:nowrap\">R330<a name=\"GenomicClinicalIndication-R330\"> </a></td><td>Alveolar capillary dysplasia with misalignment of pulmonary veins</td></tr><tr><td style=\"white-space:nowrap\">R331<a name=\"GenomicClinicalIndication-R331\"> </a></td><td>Intestinal failure or congenital diarrhoea</td></tr><tr><td style=\"white-space:nowrap\">R332<a name=\"GenomicClinicalIndication-R332\"> </a></td><td>Rare genetic inflammatory skin disorders</td></tr><tr><td style=\"white-space:nowrap\">R333<a name=\"GenomicClinicalIndication-R333\"> </a></td><td>Central congenital hypoventilation</td></tr><tr><td style=\"white-space:nowrap\">R334<a name=\"GenomicClinicalIndication-R334\"> </a></td><td>Cystinosis</td></tr><tr><td style=\"white-space:nowrap\">R335<a name=\"GenomicClinicalIndication-R335\"> </a></td><td>Fabry disease</td></tr><tr><td style=\"white-space:nowrap\">R336<a name=\"GenomicClinicalIndication-R336\"> </a></td><td>Cerebral vascular malformations</td></tr><tr><td style=\"white-space:nowrap\">R337<a name=\"GenomicClinicalIndication-R337\"> </a></td><td>CADASIL</td></tr><tr><td style=\"white-space:nowrap\">R338<a name=\"GenomicClinicalIndication-R338\"> </a></td><td>Monitoring for G(M)CSF escape variants</td></tr><tr><td style=\"white-space:nowrap\">R340<a name=\"GenomicClinicalIndication-R340\"> </a></td><td>Amelogenesis imperfecta</td></tr><tr><td style=\"white-space:nowrap\">R341<a name=\"GenomicClinicalIndication-R341\"> </a></td><td>Hereditary angioedema types I and II</td></tr><tr><td style=\"white-space:nowrap\">R343<a name=\"GenomicClinicalIndication-R343\"> </a></td><td>Chromosomal mosaicism - microarray</td></tr><tr><td style=\"white-space:nowrap\">R344<a name=\"GenomicClinicalIndication-R344\"> </a></td><td>Primary hyperaldosteronism - KCNJ5</td></tr><tr><td style=\"white-space:nowrap\">R345<a name=\"GenomicClinicalIndication-R345\"> </a></td><td>Facioscapulohumeral muscular dystrophy - extended testing</td></tr><tr><td style=\"white-space:nowrap\">R346<a name=\"GenomicClinicalIndication-R346\"> </a></td><td>DNA to be stored</td></tr><tr><td style=\"white-space:nowrap\">R347<a name=\"GenomicClinicalIndication-R347\"> </a></td><td>Inherited predisposition to acute myeloid leukaemia (AML)</td></tr><tr><td style=\"white-space:nowrap\">R350<a name=\"GenomicClinicalIndication-R350\"> </a></td><td>MERRF syndrome</td></tr><tr><td style=\"white-space:nowrap\">R351<a name=\"GenomicClinicalIndication-R351\"> </a></td><td>NARP syndrome or maternally inherited Leigh syndrome</td></tr><tr><td style=\"white-space:nowrap\">R352<a name=\"GenomicClinicalIndication-R352\"> </a></td><td>Mitochondrial DNA maintenance disorder</td></tr><tr><td style=\"white-space:nowrap\">R353<a name=\"GenomicClinicalIndication-R353\"> </a></td><td>Mitochondrial disorder with complex I deficiency</td></tr><tr><td style=\"white-space:nowrap\">R354<a name=\"GenomicClinicalIndication-R354\"> </a></td><td>Mitochondrial disorder with complex II deficiency</td></tr><tr><td style=\"white-space:nowrap\">R355<a name=\"GenomicClinicalIndication-R355\"> </a></td><td>Mitochondrial disorder with complex III deficiency</td></tr><tr><td style=\"white-space:nowrap\">R356<a name=\"GenomicClinicalIndication-R356\"> </a></td><td>Mitochondrial disorder with complex IV deficiency</td></tr><tr><td style=\"white-space:nowrap\">R357<a name=\"GenomicClinicalIndication-R357\"> </a></td><td>Mitochondrial disorder with complex V deficiency</td></tr><tr><td style=\"white-space:nowrap\">R361<a name=\"GenomicClinicalIndication-R361\"> </a></td><td>Sickle cell, thalassaemia and other haemoglobinopathies trait or carrier testing</td></tr><tr><td style=\"white-space:nowrap\">R363<a name=\"GenomicClinicalIndication-R363\"> </a></td><td>Inherited predisposition to GIST</td></tr><tr><td style=\"white-space:nowrap\">R364<a name=\"GenomicClinicalIndication-R364\"> </a></td><td>DICER1-related cancer predisposition</td></tr><tr><td style=\"white-space:nowrap\">R365<a name=\"GenomicClinicalIndication-R365\"> </a></td><td>Fumarate hydratase-related tumour syndromes</td></tr><tr><td style=\"white-space:nowrap\">R366<a name=\"GenomicClinicalIndication-R366\"> </a></td><td>Inherited susceptibility to acute lymphoblastoid leukaemia (ALL)</td></tr><tr><td style=\"white-space:nowrap\">R367<a name=\"GenomicClinicalIndication-R367\"> </a></td><td>Inherited pancreatic cancer</td></tr><tr><td style=\"white-space:nowrap\">R368<a name=\"GenomicClinicalIndication-R368\"> </a></td><td>Hereditary angioedema type III</td></tr><tr><td style=\"white-space:nowrap\">R370<a name=\"GenomicClinicalIndication-R370\"> </a></td><td>Validation of unaccredited findings</td></tr><tr><td style=\"white-space:nowrap\">R371<a name=\"GenomicClinicalIndication-R371\"> </a></td><td>Malignant hyperthermia</td></tr><tr><td style=\"white-space:nowrap\">R372<a name=\"GenomicClinicalIndication-R372\"> </a></td><td>Newborn screening for sickle cell disease in a transfused baby</td></tr><tr><td style=\"white-space:nowrap\">R373<a name=\"GenomicClinicalIndication-R373\"> </a></td><td>RNA to be stored</td></tr><tr><td style=\"white-space:nowrap\">R374<a name=\"GenomicClinicalIndication-R374\"> </a></td><td>Other sample to be stored</td></tr><tr><td style=\"white-space:nowrap\">R375<a name=\"GenomicClinicalIndication-R375\"> </a></td><td>Family follow-up testing to aid variant interpretation</td></tr><tr><td style=\"white-space:nowrap\">R376<a name=\"GenomicClinicalIndication-R376\"> </a></td><td>Segmental or atypical neurofibromatosis type 1 testing</td></tr><tr><td style=\"white-space:nowrap\">R380<a name=\"GenomicClinicalIndication-R380\"> </a></td><td>Niemann Pick disease type C</td></tr><tr><td style=\"white-space:nowrap\">R381<a name=\"GenomicClinicalIndication-R381\"> </a></td><td>Other rare neuromuscular disorders</td></tr><tr><td style=\"white-space:nowrap\">R382<a name=\"GenomicClinicalIndication-R382\"> </a></td><td>Hypochondroplasia</td></tr><tr><td style=\"white-space:nowrap\">R383<a name=\"GenomicClinicalIndication-R383\"> </a></td><td>Linkage testing for Huntington disease</td></tr><tr><td style=\"white-space:nowrap\">R384<a name=\"GenomicClinicalIndication-R384\"> </a></td><td>Generalised arterial calcification in infancy</td></tr><tr><td style=\"white-space:nowrap\">R387<a name=\"GenomicClinicalIndication-R387\"> </a></td><td>Reanalysis of existing data</td></tr><tr><td style=\"white-space:nowrap\">R389<a name=\"GenomicClinicalIndication-R389\"> </a></td><td>NIPD - pre-pregnancy test work-up</td></tr><tr><td style=\"white-space:nowrap\">R390<a name=\"GenomicClinicalIndication-R390\"> </a></td><td>Multiple exostoses</td></tr><tr><td style=\"white-space:nowrap\">R391<a name=\"GenomicClinicalIndication-R391\"> </a></td><td>Barth syndrome</td></tr><tr><td style=\"white-space:nowrap\">R394<a name=\"GenomicClinicalIndication-R394\"> </a></td><td>Mitochondrial neurogastrointestinal encephalopathy</td></tr><tr><td style=\"white-space:nowrap\">R395<a name=\"GenomicClinicalIndication-R395\"> </a></td><td>Thiamine metabolism dysfunction syndrome 2</td></tr><tr><td style=\"white-space:nowrap\">R396<a name=\"GenomicClinicalIndication-R396\"> </a></td><td>Mitochondrial Complex V deficiency, TMEM70 type</td></tr><tr><td style=\"white-space:nowrap\">R397<a name=\"GenomicClinicalIndication-R397\"> </a></td><td>Maternally inherited cardiomyopathy</td></tr><tr><td style=\"white-space:nowrap\">R401<a name=\"GenomicClinicalIndication-R401\"> </a></td><td>Common aneuploidy testing - prenatal</td></tr><tr><td style=\"white-space:nowrap\">R402<a name=\"GenomicClinicalIndication-R402\"> </a></td><td>Premature ovarian insufficiency</td></tr><tr><td style=\"white-space:nowrap\">R403<a name=\"GenomicClinicalIndication-R403\"> </a></td><td>MCADD - Medium-chain acyl-CoA dehydrogenase deficiency – full ACADM sequencing newborn screening follow up</td></tr><tr><td style=\"white-space:nowrap\">R404<a name=\"GenomicClinicalIndication-R404\"> </a></td><td>Testing of unaffected individuals for inherited cancer predisposition syndromes</td></tr><tr><td style=\"white-space:nowrap\">R405<a name=\"GenomicClinicalIndication-R405\"> </a></td><td>Hereditary Erythrocytosis</td></tr><tr><td style=\"white-space:nowrap\">R406<a name=\"GenomicClinicalIndication-R406\"> </a></td><td>Thrombocythaemia</td></tr><tr><td style=\"white-space:nowrap\">R409<a name=\"GenomicClinicalIndication-R409\"> </a></td><td>Linkage testing for other recognisable Mendelian disorders</td></tr><tr><td style=\"white-space:nowrap\">R410<a name=\"GenomicClinicalIndication-R410\"> </a></td><td>Myotonic dystrophy type 2 (DM2)</td></tr><tr><td style=\"white-space:nowrap\">R411<a name=\"GenomicClinicalIndication-R411\"> </a></td><td>Y chromosome microdeletion</td></tr><tr><td style=\"white-space:nowrap\">R412<a name=\"GenomicClinicalIndication-R412\"> </a></td><td>Fetal anomalies with a likely genetic cause - non urgent</td></tr><tr><td style=\"white-space:nowrap\">R413<a name=\"GenomicClinicalIndication-R413\"> </a></td><td>Autoinflammatory Disorders</td></tr><tr><td style=\"white-space:nowrap\">R414<a name=\"GenomicClinicalIndication-R414\"> </a></td><td>APC associated Polyposis</td></tr><tr><td style=\"white-space:nowrap\">R416<a name=\"GenomicClinicalIndication-R416\"> </a></td><td>Syndromic and non syndromic craniosynostosis involving midline sutures</td></tr><tr><td style=\"white-space:nowrap\">R417<a name=\"GenomicClinicalIndication-R417\"> </a></td><td>Multi Locus Imprinting Disorder (MLID)</td></tr><tr><td style=\"white-space:nowrap\">R419<a name=\"GenomicClinicalIndication-R419\"> </a></td><td>Acute Rhabdomyolysis</td></tr><tr><td style=\"white-space:nowrap\">R420<a name=\"GenomicClinicalIndication-R420\"> </a></td><td>Pseudoxanthoma elasticum</td></tr><tr><td style=\"white-space:nowrap\">R421<a name=\"GenomicClinicalIndication-R421\"> </a></td><td>Pulmonary Fibrosis, Familial</td></tr><tr><td style=\"white-space:nowrap\">R422<a name=\"GenomicClinicalIndication-R422\"> </a></td><td>BAP1 associated tumour predisposition syndrome</td></tr><tr><td style=\"white-space:nowrap\">R423<a name=\"GenomicClinicalIndication-R423\"> </a></td><td>NIPD for Retinoblastoma - haplotype testing</td></tr><tr><td style=\"white-space:nowrap\">R424<a name=\"GenomicClinicalIndication-R424\"> </a></td><td>Subcutaneous panniculitis T-cell lymphoma (SPTCL)</td></tr><tr><td style=\"white-space:nowrap\">R426<a name=\"GenomicClinicalIndication-R426\"> </a></td><td>Pulmonary alveolar microlithiasis</td></tr><tr><td style=\"white-space:nowrap\">R428<a name=\"GenomicClinicalIndication-R428\"> </a></td><td>Patient receiving solid organ transplantation (only in cases where passenger lymphocyte syndrome is suspected)</td></tr><tr><td style=\"white-space:nowrap\">R430<a name=\"GenomicClinicalIndication-R430\"> </a></td><td>Inherited prostate cancer</td></tr><tr><td style=\"white-space:nowrap\">R431<a name=\"GenomicClinicalIndication-R431\"> </a></td><td>Genome-wide DNA Methylation Profiling to Aid Variant Interpretation</td></tr><tr><td style=\"white-space:nowrap\">R433<a name=\"GenomicClinicalIndication-R433\"> </a></td><td>Monogenic diabetes, subtype glucokinase - NIPT</td></tr><tr><td style=\"white-space:nowrap\">R436<a name=\"GenomicClinicalIndication-R436\"> </a></td><td>Hereditary alpha tryptasaemia</td></tr><tr><td style=\"white-space:nowrap\">R438<a name=\"GenomicClinicalIndication-R438\"> </a></td><td>Paediatric pseudo-obstruction syndrome</td></tr><tr><td style=\"white-space:nowrap\">R440<a name=\"GenomicClinicalIndication-R440\"> </a></td><td>Hereditary isolated diabetes insipidus</td></tr><tr><td style=\"white-space:nowrap\">R441<a name=\"GenomicClinicalIndication-R441\"> </a></td><td>Unexplained death in infancy and sudden unexplained death in childhood</td></tr><tr><td style=\"white-space:nowrap\">R442<a name=\"GenomicClinicalIndication-R442\"> </a></td><td>Variant re-interpretation</td></tr><tr><td style=\"white-space:nowrap\">R443<a name=\"GenomicClinicalIndication-R443\"> </a></td><td>Confirmation test</td></tr><tr><td style=\"white-space:nowrap\">R444<a name=\"GenomicClinicalIndication-R444\"> </a></td><td>NICE approved PARP inhibitor treatment</td></tr><tr><td style=\"white-space:nowrap\">R445<a name=\"GenomicClinicalIndication-R445\"> </a></td><td>T21, T18 and T13 aneuploidy testing - NIPT (previous history)</td></tr><tr><td style=\"white-space:nowrap\">R446<a name=\"GenomicClinicalIndication-R446\"> </a></td><td>APOL1 kidney donor testing</td></tr><tr><td style=\"white-space:nowrap\">R447<a name=\"GenomicClinicalIndication-R447\"> </a></td><td>Validation of WGS Diagnostic discovery</td></tr><tr><td style=\"white-space:nowrap\">R448<a name=\"GenomicClinicalIndication-R448\"> </a></td><td>Prenatal testing</td></tr><tr><td style=\"white-space:nowrap\">R449<a name=\"GenomicClinicalIndication-R449\"> </a></td><td>Diagnostic testing for Glutaric acidaemia I</td></tr><tr><td style=\"white-space:nowrap\">R450<a name=\"GenomicClinicalIndication-R450\"> </a></td><td>Diagnostic testing for Isovaleric acidaemia</td></tr><tr><td style=\"white-space:nowrap\">R451<a name=\"GenomicClinicalIndication-R451\"> </a></td><td>Diagnostic testing for MCADD - Medium-chain acyl-CoA dehydrogenase deficiency – full ACADM sequencing</td></tr><tr><td style=\"white-space:nowrap\">R452<a name=\"GenomicClinicalIndication-R452\"> </a></td><td>Silver russell syndrome and Temple Syndrome</td></tr><tr><td style=\"white-space:nowrap\">R453<a name=\"GenomicClinicalIndication-R453\"> </a></td><td>Monogenic short stature</td></tr><tr><td style=\"white-space:nowrap\">R454<a name=\"GenomicClinicalIndication-R454\"> </a></td><td>Mavacamten for treating symptomatic obstructive hypertrophic cardiomyopathy</td></tr><tr><td style=\"white-space:nowrap\">R456<a name=\"GenomicClinicalIndication-R456\"> </a></td><td>Embryonal tumour of possible germline origin</td></tr><tr><td style=\"white-space:nowrap\">R457<a name=\"GenomicClinicalIndication-R457\"> </a></td><td>Sarcoma of possible germline origin</td></tr><tr><td style=\"white-space:nowrap\">R458<a name=\"GenomicClinicalIndication-R458\"> </a></td><td>Young onset or familial dementia</td></tr><tr><td style=\"white-space:nowrap\">R459<a name=\"GenomicClinicalIndication-R459\"> </a></td><td>Young onset or complex Parkinson disease</td></tr><tr><td style=\"white-space:nowrap\">R460<a name=\"GenomicClinicalIndication-R460\"> </a></td><td>Amyotrophic lateral sclerosis</td></tr><tr><td style=\"white-space:nowrap\">R461<a name=\"GenomicClinicalIndication-R461\"> </a></td><td>Cerebral amyloid angiopathy</td></tr><tr><td style=\"white-space:nowrap\">R462<a name=\"GenomicClinicalIndication-R462\"> </a></td><td>Childhood interstitial lung disease</td></tr><tr><td style=\"white-space:nowrap\">R463<a name=\"GenomicClinicalIndication-R463\"> </a></td><td>Cytogenetic characterisation of a genomic abnormality – Karyotype or Targeted Chromosome Analysis</td></tr><tr><td style=\"white-space:nowrap\">R464<a name=\"GenomicClinicalIndication-R464\"> </a></td><td>Recurrent miscarriage where products of conception are not available for testing - parental karyotype</td></tr><tr><td style=\"white-space:nowrap\">R465<a name=\"GenomicClinicalIndication-R465\"> </a></td><td>Familial cytogenetic rearrangement - Karyotype or Targeted Chromosome Analysis</td></tr><tr><td style=\"white-space:nowrap\">R466<a name=\"GenomicClinicalIndication-R466\"> </a></td><td>Unexplained infertility - karyotype</td></tr><tr><td style=\"white-space:nowrap\">R467<a name=\"GenomicClinicalIndication-R467\"> </a></td><td>Gamete donors - karyotype</td></tr><tr><td style=\"white-space:nowrap\">R468<a name=\"GenomicClinicalIndication-R468\"> </a></td><td>Possible sex chromosome aneuploidy or structural rearrangement – Targeted Chromosome Analysis</td></tr><tr><td style=\"white-space:nowrap\">R470<a name=\"GenomicClinicalIndication-R470\"> </a></td><td>T21, T18, and T13 aneuploidy testing - NIPT NHS Fetal Anomaly Screening Programme (FASP)</td></tr><tr><td style=\"white-space:nowrap\">R471<a name=\"GenomicClinicalIndication-R471\"> </a></td><td>Neurodegenerative Disorders, adult onset – Prenatal Exclusion Testing</td></tr><tr><td style=\"white-space:nowrap\">M1<a name=\"GenomicClinicalIndication-M1\"> </a></td><td>Colorectal Carcinoma</td></tr><tr><td style=\"white-space:nowrap\">M2<a name=\"GenomicClinicalIndication-M2\"> </a></td><td>Ovarian Carcinoma</td></tr><tr><td style=\"white-space:nowrap\">M3<a name=\"GenomicClinicalIndication-M3\"> </a></td><td>Breast Cancer</td></tr><tr><td style=\"white-space:nowrap\">M4<a name=\"GenomicClinicalIndication-M4\"> </a></td><td>Non-Small Cell Lung Cancer</td></tr><tr><td style=\"white-space:nowrap\">M5<a name=\"GenomicClinicalIndication-M5\"> </a></td><td>Mesothelioma</td></tr><tr><td style=\"white-space:nowrap\">M6<a name=\"GenomicClinicalIndication-M6\"> </a></td><td>Mucoepidermoid Carcinoma</td></tr><tr><td style=\"white-space:nowrap\">M7<a name=\"GenomicClinicalIndication-M7\"> </a></td><td>Melanoma - Adult</td></tr><tr><td style=\"white-space:nowrap\">M8<a name=\"GenomicClinicalIndication-M8\"> </a></td><td>Gastrointestinal Stromal Tumour</td></tr><tr><td style=\"white-space:nowrap\">M9<a name=\"GenomicClinicalIndication-M9\"> </a></td><td>Thyroid Papillary Carcinoma - Adult</td></tr><tr><td style=\"white-space:nowrap\">M10<a name=\"GenomicClinicalIndication-M10\"> </a></td><td>Thyroid Follicular Carcinoma</td></tr><tr><td style=\"white-space:nowrap\">M11<a name=\"GenomicClinicalIndication-M11\"> </a></td><td>Poorly Differentiated Anaplastic Thyroid Carcinoma</td></tr><tr><td style=\"white-space:nowrap\">M12<a name=\"GenomicClinicalIndication-M12\"> </a></td><td>Thyroid Medullary Carcinoma</td></tr><tr><td style=\"white-space:nowrap\">M13<a name=\"GenomicClinicalIndication-M13\"> </a></td><td>Phaeochromocytoma</td></tr><tr><td style=\"white-space:nowrap\">M14<a name=\"GenomicClinicalIndication-M14\"> </a></td><td>Adrenal Cortical Carcinoma</td></tr><tr><td style=\"white-space:nowrap\">M15<a name=\"GenomicClinicalIndication-M15\"> </a></td><td>Head and Neck Squamous Cell Carcinoma</td></tr><tr><td style=\"white-space:nowrap\">M16<a name=\"GenomicClinicalIndication-M16\"> </a></td><td>Adenoid Cystic Carcinoma</td></tr><tr><td style=\"white-space:nowrap\">M17<a name=\"GenomicClinicalIndication-M17\"> </a></td><td>Secretory Carcinoma (Salivary Gland)</td></tr><tr><td style=\"white-space:nowrap\">M18<a name=\"GenomicClinicalIndication-M18\"> </a></td><td>Renal Cell Carcinoma - Adult</td></tr><tr><td style=\"white-space:nowrap\">M42<a name=\"GenomicClinicalIndication-M42\"> </a></td><td>Alveolar Rhabdomyosarcoma</td></tr><tr><td style=\"white-space:nowrap\">M43<a name=\"GenomicClinicalIndication-M43\"> </a></td><td>Alveolar Soft Part Sarcoma</td></tr><tr><td style=\"white-space:nowrap\">M44<a name=\"GenomicClinicalIndication-M44\"> </a></td><td>Aneurysmal Bone Cyst</td></tr><tr><td style=\"white-space:nowrap\">M45<a name=\"GenomicClinicalIndication-M45\"> </a></td><td>Angiomatoid Fibrous Histiocytoma</td></tr><tr><td style=\"white-space:nowrap\">M46<a name=\"GenomicClinicalIndication-M46\"> </a></td><td>Chondrosarcoma Conventional Central</td></tr><tr><td style=\"white-space:nowrap\">M47<a name=\"GenomicClinicalIndication-M47\"> </a></td><td>Chondroblastoma</td></tr><tr><td style=\"white-space:nowrap\">M48<a name=\"GenomicClinicalIndication-M48\"> </a></td><td>Clear Cell Sarcoma of Soft Tissue</td></tr><tr><td style=\"white-space:nowrap\">M49<a name=\"GenomicClinicalIndication-M49\"> </a></td><td>CNS Ewing Sarcoma Family Tumour With\u00a0CIC\u00a0Alteration</td></tr><tr><td style=\"white-space:nowrap\">M50<a name=\"GenomicClinicalIndication-M50\"> </a></td><td>Dermatofibrosarcoma Protuberans</td></tr><tr><td style=\"white-space:nowrap\">M51<a name=\"GenomicClinicalIndication-M51\"> </a></td><td>Desmoid-Type Fibromatosis</td></tr><tr><td style=\"white-space:nowrap\">M52<a name=\"GenomicClinicalIndication-M52\"> </a></td><td>Desmoplastic Small Round Cell Tumour</td></tr><tr><td style=\"white-space:nowrap\">M53<a name=\"GenomicClinicalIndication-M53\"> </a></td><td>Endometrial Stromal Sarcoma</td></tr><tr><td style=\"white-space:nowrap\">M54<a name=\"GenomicClinicalIndication-M54\"> </a></td><td>Epithelioid Haemangioendothelioma</td></tr><tr><td style=\"white-space:nowrap\">M55<a name=\"GenomicClinicalIndication-M55\"> </a></td><td>Ewing Like Sarcoma/PNET</td></tr><tr><td style=\"white-space:nowrap\">M56<a name=\"GenomicClinicalIndication-M56\"> </a></td><td>Ewing Sarcoma of Bone</td></tr><tr><td style=\"white-space:nowrap\">M57<a name=\"GenomicClinicalIndication-M57\"> </a></td><td>Ewing-Like Soft-Tissue Sarcoma</td></tr><tr><td style=\"white-space:nowrap\">M58<a name=\"GenomicClinicalIndication-M58\"> </a></td><td>Extraskeletal Myxoid Chondrosarcoma</td></tr><tr><td style=\"white-space:nowrap\">M59<a name=\"GenomicClinicalIndication-M59\"> </a></td><td>Fibrous Dysplasia/Myxomas (Mazabraud Syndrome)</td></tr><tr><td style=\"white-space:nowrap\">M60<a name=\"GenomicClinicalIndication-M60\"> </a></td><td>Giant Cell Tumour of Bone</td></tr><tr><td style=\"white-space:nowrap\">M61<a name=\"GenomicClinicalIndication-M61\"> </a></td><td>High-Grade Neuroepithelial Tumour-Bcor Group</td></tr><tr><td style=\"white-space:nowrap\">M62<a name=\"GenomicClinicalIndication-M62\"> </a></td><td>Infantile Fibrosarcoma</td></tr><tr><td style=\"white-space:nowrap\">M63<a name=\"GenomicClinicalIndication-M63\"> </a></td><td>Inflammatory Myofibroblastic Tumour</td></tr><tr><td style=\"white-space:nowrap\">M64<a name=\"GenomicClinicalIndication-M64\"> </a></td><td>Low Grade Fibromyxoid Sarcoma</td></tr><tr><td style=\"white-space:nowrap\">M65<a name=\"GenomicClinicalIndication-M65\"> </a></td><td>Mesenchymal Chondrosarcoma</td></tr><tr><td style=\"white-space:nowrap\">M66<a name=\"GenomicClinicalIndication-M66\"> </a></td><td>Myoepithelial Tumours of Soft Tissue</td></tr><tr><td style=\"white-space:nowrap\">M67<a name=\"GenomicClinicalIndication-M67\"> </a></td><td>Myxoid/Round Cell Liposarcoma</td></tr><tr><td style=\"white-space:nowrap\">M68<a name=\"GenomicClinicalIndication-M68\"> </a></td><td>Myxoinflammatory Fibroblastic Sarcoma</td></tr><tr><td style=\"white-space:nowrap\">M69<a name=\"GenomicClinicalIndication-M69\"> </a></td><td>Nodular Fasciitis</td></tr><tr><td style=\"white-space:nowrap\">M70<a name=\"GenomicClinicalIndication-M70\"> </a></td><td>Osteosarcoma</td></tr><tr><td style=\"white-space:nowrap\">M71<a name=\"GenomicClinicalIndication-M71\"> </a></td><td>Phosphaturic Mesenchymal Tumour</td></tr><tr><td style=\"white-space:nowrap\">M72<a name=\"GenomicClinicalIndication-M72\"> </a></td><td>Primitive Mesenchymal Myxoid Tumour of Infancy</td></tr><tr><td style=\"white-space:nowrap\">M73<a name=\"GenomicClinicalIndication-M73\"> </a></td><td>Pseudomyogenic Haemangioendothelioma</td></tr><tr><td style=\"white-space:nowrap\">M74<a name=\"GenomicClinicalIndication-M74\"> </a></td><td>Radiation Induced Angiosarcoma</td></tr><tr><td style=\"white-space:nowrap\">M75<a name=\"GenomicClinicalIndication-M75\"> </a></td><td>Round Cell Sarcoma Nos</td></tr><tr><td style=\"white-space:nowrap\">M76<a name=\"GenomicClinicalIndication-M76\"> </a></td><td>Sclerosing Epithelioid Fibrosarcoma</td></tr><tr><td style=\"white-space:nowrap\">M77<a name=\"GenomicClinicalIndication-M77\"> </a></td><td>Synovial Sarcoma</td></tr><tr><td style=\"white-space:nowrap\">M78<a name=\"GenomicClinicalIndication-M78\"> </a></td><td>Undifferentiated Round Cell Sarcoma of Infancy</td></tr><tr><td style=\"white-space:nowrap\">M79<a name=\"GenomicClinicalIndication-M79\"> </a></td><td>Well Differentiated/Dedifferentiated Liposarcoma</td></tr><tr><td style=\"white-space:nowrap\">M119<a name=\"GenomicClinicalIndication-M119\"> </a></td><td>Paediatric Tumours</td></tr><tr><td style=\"white-space:nowrap\">M124<a name=\"GenomicClinicalIndication-M124\"> </a></td><td>Clear Cell Kidney Sarcoma - Paediatric</td></tr><tr><td style=\"white-space:nowrap\">M127<a name=\"GenomicClinicalIndication-M127\"> </a></td><td>Congenital Mesoblastic Nephroma - Paediatric</td></tr><tr><td style=\"white-space:nowrap\">M131<a name=\"GenomicClinicalIndication-M131\"> </a></td><td>Cystic Nephroma - Paediatric</td></tr><tr><td style=\"white-space:nowrap\">M143<a name=\"GenomicClinicalIndication-M143\"> </a></td><td>Lung - Paediatric</td></tr><tr><td style=\"white-space:nowrap\">M149<a name=\"GenomicClinicalIndication-M149\"> </a></td><td>Melanotic Tumours - Paediatric</td></tr><tr><td style=\"white-space:nowrap\">M151<a name=\"GenomicClinicalIndication-M151\"> </a></td><td>Midline Carcinoma - Paediatric</td></tr><tr><td style=\"white-space:nowrap\">M152<a name=\"GenomicClinicalIndication-M152\"> </a></td><td>Neuroblastoma - Paediatric</td></tr><tr><td style=\"white-space:nowrap\">M157<a name=\"GenomicClinicalIndication-M157\"> </a></td><td>Thyroid Papillary Carcinoma - Paediatric</td></tr><tr><td style=\"white-space:nowrap\">M161<a name=\"GenomicClinicalIndication-M161\"> </a></td><td>Pleuropulmonary Blastoma - Paediatric</td></tr><tr><td style=\"white-space:nowrap\">M165<a name=\"GenomicClinicalIndication-M165\"> </a></td><td>Renal Tumours - Paediatric</td></tr><tr><td style=\"white-space:nowrap\">M166<a name=\"GenomicClinicalIndication-M166\"> </a></td><td>Retinoblastoma - Paediatric</td></tr><tr><td style=\"white-space:nowrap\">M167<a name=\"GenomicClinicalIndication-M167\"> </a></td><td>Rhabdoid Tumours - Paediatric</td></tr><tr><td style=\"white-space:nowrap\">M173<a name=\"GenomicClinicalIndication-M173\"> </a></td><td>t(6;11) Translocation-Associated Renal Cell Carcinoma - Paediatric</td></tr><tr><td style=\"white-space:nowrap\">M174<a name=\"GenomicClinicalIndication-M174\"> </a></td><td>Testicular - Paediatric</td></tr><tr><td style=\"white-space:nowrap\">M178<a name=\"GenomicClinicalIndication-M178\"> </a></td><td>Wilms Tumours - Paediatric</td></tr><tr><td style=\"white-space:nowrap\">M180<a name=\"GenomicClinicalIndication-M180\"> </a></td><td>Xp11.2 Translocation-Associated Renal Cell Carcinoma - Paediatric</td></tr><tr><td style=\"white-space:nowrap\">M187<a name=\"GenomicClinicalIndication-M187\"> </a></td><td>Uveal melanoma</td></tr><tr><td style=\"white-space:nowrap\">M196<a name=\"GenomicClinicalIndication-M196\"> </a></td><td>Bone Forming Soft Tissue Tumour Differential</td></tr><tr><td style=\"white-space:nowrap\">M197<a name=\"GenomicClinicalIndication-M197\"> </a></td><td>Round Cell Sarcoma of Soft Tissue Differential</td></tr><tr><td style=\"white-space:nowrap\">M198<a name=\"GenomicClinicalIndication-M198\"> </a></td><td>Vascular Soft Tissue Tumour Differential</td></tr><tr><td style=\"white-space:nowrap\">M199<a name=\"GenomicClinicalIndication-M199\"> </a></td><td>Spindle Cell Soft Tissue Tumour Differential</td></tr><tr><td style=\"white-space:nowrap\">M200<a name=\"GenomicClinicalIndication-M200\"> </a></td><td>Myxoid Soft Tissue Tumour Differential</td></tr><tr><td style=\"white-space:nowrap\">M201<a name=\"GenomicClinicalIndication-M201\"> </a></td><td>Adipocytic Soft Tissue Tumour Differential</td></tr><tr><td style=\"white-space:nowrap\">M202<a name=\"GenomicClinicalIndication-M202\"> </a></td><td>Epithelioid Soft Tissue Tumour Differential</td></tr><tr><td style=\"white-space:nowrap\">M203<a name=\"GenomicClinicalIndication-M203\"> </a></td><td>Uterine Sarcomas (Inc Endometrial)</td></tr><tr><td style=\"white-space:nowrap\">M204<a name=\"GenomicClinicalIndication-M204\"> </a></td><td>Undifferentiated tumour</td></tr><tr><td style=\"white-space:nowrap\">M205<a name=\"GenomicClinicalIndication-M205\"> </a></td><td>Cartilage Forming Bone Tumour Differential</td></tr><tr><td style=\"white-space:nowrap\">M206<a name=\"GenomicClinicalIndication-M206\"> </a></td><td>Bone Forming Bone Tumour Differential</td></tr><tr><td style=\"white-space:nowrap\">M207<a name=\"GenomicClinicalIndication-M207\"> </a></td><td>Osteoclast-Rich Bone Tumour Differential</td></tr><tr><td style=\"white-space:nowrap\">M208<a name=\"GenomicClinicalIndication-M208\"> </a></td><td>Round Cell Sarcoma of Bone Differential</td></tr><tr><td style=\"white-space:nowrap\">M209<a name=\"GenomicClinicalIndication-M209\"> </a></td><td>Vascular Tumour of Bone Differential</td></tr><tr><td style=\"white-space:nowrap\">M210<a name=\"GenomicClinicalIndication-M210\"> </a></td><td>Spindle Cell Tumour of Bone Differential</td></tr><tr><td style=\"white-space:nowrap\">M211<a name=\"GenomicClinicalIndication-M211\"> </a></td><td>Fibro-Osseous Tumour of Bone Differential</td></tr><tr><td style=\"white-space:nowrap\">M212<a name=\"GenomicClinicalIndication-M212\"> </a></td><td>Renal Tumour Differential - Paediatric</td></tr><tr><td style=\"white-space:nowrap\">M215<a name=\"GenomicClinicalIndication-M215\"> </a></td><td>Endometrial Cancer</td></tr><tr><td style=\"white-space:nowrap\">M217<a name=\"GenomicClinicalIndication-M217\"> </a></td><td>Urothelial Carcinoma</td></tr><tr><td style=\"white-space:nowrap\">M218<a name=\"GenomicClinicalIndication-M218\"> </a></td><td>Prostate Cancer</td></tr><tr><td style=\"white-space:nowrap\">M219<a name=\"GenomicClinicalIndication-M219\"> </a></td><td>Pancreatic Cancer</td></tr><tr><td style=\"white-space:nowrap\">M220<a name=\"GenomicClinicalIndication-M220\"> </a></td><td>Cholangiocarcinoma</td></tr><tr><td style=\"white-space:nowrap\">M221<a name=\"GenomicClinicalIndication-M221\"> </a></td><td>Spitzoid tumour</td></tr><tr><td style=\"white-space:nowrap\">M222<a name=\"GenomicClinicalIndication-M222\"> </a></td><td>Hepatocellular carcinoma</td></tr><tr><td style=\"white-space:nowrap\">M226<a name=\"GenomicClinicalIndication-M226\"> </a></td><td>Carcinoma of Unknown Primary</td></tr><tr><td style=\"white-space:nowrap\">M227<a name=\"GenomicClinicalIndication-M227\"> </a></td><td>Solid tumour other (i.e. specific histology not listed elsewhere in the test directory)</td></tr><tr><td style=\"white-space:nowrap\">M231<a name=\"GenomicClinicalIndication-M231\"> </a></td><td>Small cell lung cancer</td></tr><tr><td style=\"white-space:nowrap\">M232<a name=\"GenomicClinicalIndication-M232\"> </a></td><td>Solid Tumour Exhausted all Standards of Care Testing and Treatment- Adult</td></tr><tr><td style=\"white-space:nowrap\">M233<a name=\"GenomicClinicalIndication-M233\"> </a></td><td>High Grade Ovarian Carcinoma</td></tr><tr><td style=\"white-space:nowrap\">M234<a name=\"GenomicClinicalIndication-M234\"> </a></td><td>Triple Negative Breast Cancer</td></tr><tr><td style=\"white-space:nowrap\">M236<a name=\"GenomicClinicalIndication-M236\"> </a></td><td>Oesophageal Cancer</td></tr><tr><td style=\"white-space:nowrap\">M237<a name=\"GenomicClinicalIndication-M237\"> </a></td><td>Gastric Cancer</td></tr><tr><td style=\"white-space:nowrap\">M238<a name=\"GenomicClinicalIndication-M238\"> </a></td><td>Small Bowel Cancer</td></tr><tr><td style=\"white-space:nowrap\">M239<a name=\"GenomicClinicalIndication-M239\"> </a></td><td>Thyroid Hurtle Cell Carcinoma</td></tr><tr><td style=\"white-space:nowrap\">M240<a name=\"GenomicClinicalIndication-M240\"> </a></td><td>Non-invasive follicular thyroid neoplasm with papillary like nuclei</td></tr><tr><td style=\"white-space:nowrap\">M241<a name=\"GenomicClinicalIndication-M241\"> </a></td><td>Conjunctival melanoma</td></tr><tr><td style=\"white-space:nowrap\">M242<a name=\"GenomicClinicalIndication-M242\"> </a></td><td>Any patient receiving solid organ transplantation (only in cases where passenger lymphocyte syndrome is suspected)</td></tr><tr><td style=\"white-space:nowrap\">M243<a name=\"GenomicClinicalIndication-M243\"> </a></td><td>Thymic Carcinoma</td></tr><tr><td style=\"white-space:nowrap\">M244<a name=\"GenomicClinicalIndication-M244\"> </a></td><td>In all tumours eligible for NTRK1/2/3 testing</td></tr><tr><td style=\"white-space:nowrap\">M245<a name=\"GenomicClinicalIndication-M245\"> </a></td><td>Ovarian sex cord stromal tumours</td></tr><tr><td style=\"white-space:nowrap\">M20<a name=\"GenomicClinicalIndication-M20\"> </a></td><td>Anaplastic Astrocytoma</td></tr><tr><td style=\"white-space:nowrap\">M21<a name=\"GenomicClinicalIndication-M21\"> </a></td><td>Astrocytoma</td></tr><tr><td style=\"white-space:nowrap\">M22<a name=\"GenomicClinicalIndication-M22\"> </a></td><td>Diffuse Astrocytoma</td></tr><tr><td style=\"white-space:nowrap\">M23<a name=\"GenomicClinicalIndication-M23\"> </a></td><td>Diffuse Midline Glioma</td></tr><tr><td style=\"white-space:nowrap\">M24<a name=\"GenomicClinicalIndication-M24\"> </a></td><td>Embryonal Tumours with Multi-Layered Rosettes</td></tr><tr><td style=\"white-space:nowrap\">M25<a name=\"GenomicClinicalIndication-M25\"> </a></td><td>Ependymoma</td></tr><tr><td style=\"white-space:nowrap\">M26<a name=\"GenomicClinicalIndication-M26\"> </a></td><td>Ependymoma</td></tr><tr><td style=\"white-space:nowrap\">M27<a name=\"GenomicClinicalIndication-M27\"> </a></td><td>Glioblastoma</td></tr><tr><td style=\"white-space:nowrap\">M28<a name=\"GenomicClinicalIndication-M28\"> </a></td><td>Glioma</td></tr><tr><td style=\"white-space:nowrap\">M29<a name=\"GenomicClinicalIndication-M29\"> </a></td><td>High Grade Glioma</td></tr><tr><td style=\"white-space:nowrap\">M30<a name=\"GenomicClinicalIndication-M30\"> </a></td><td>IDH-Wildtype Glioblastoma</td></tr><tr><td style=\"white-space:nowrap\">M31<a name=\"GenomicClinicalIndication-M31\"> </a></td><td>Low Grade Glioma</td></tr><tr><td style=\"white-space:nowrap\">M32<a name=\"GenomicClinicalIndication-M32\"> </a></td><td>Low Grade Glioma/Glioneuronal Tumours</td></tr><tr><td style=\"white-space:nowrap\">M33<a name=\"GenomicClinicalIndication-M33\"> </a></td><td>Meningioma</td></tr><tr><td style=\"white-space:nowrap\">M34<a name=\"GenomicClinicalIndication-M34\"> </a></td><td>Non-Midline Glioma</td></tr><tr><td style=\"white-space:nowrap\">M35<a name=\"GenomicClinicalIndication-M35\"> </a></td><td>OligodendroGlioma</td></tr><tr><td style=\"white-space:nowrap\">M36<a name=\"GenomicClinicalIndication-M36\"> </a></td><td>Pilocytic Astrocytoma</td></tr><tr><td style=\"white-space:nowrap\">M37<a name=\"GenomicClinicalIndication-M37\"> </a></td><td>Pineoblastoma</td></tr><tr><td style=\"white-space:nowrap\">M38<a name=\"GenomicClinicalIndication-M38\"> </a></td><td>Pituitary Tumours</td></tr><tr><td style=\"white-space:nowrap\">M39<a name=\"GenomicClinicalIndication-M39\"> </a></td><td>Rare Primitive Neuroectodermal Tumours Groups 2/3</td></tr><tr><td style=\"white-space:nowrap\">M80<a name=\"GenomicClinicalIndication-M80\"> </a></td><td>Acute Myeloid Leukaemia</td></tr><tr><td style=\"white-space:nowrap\">M81<a name=\"GenomicClinicalIndication-M81\"> </a></td><td>Transient Abnormal Myelopoiesis</td></tr><tr><td style=\"white-space:nowrap\">M82<a name=\"GenomicClinicalIndication-M82\"> </a></td><td>Myelodysplasia</td></tr><tr><td style=\"white-space:nowrap\">M83<a name=\"GenomicClinicalIndication-M83\"> </a></td><td>Aplastic Anaemia</td></tr><tr><td style=\"white-space:nowrap\">M84<a name=\"GenomicClinicalIndication-M84\"> </a></td><td>Chronic Myeloid Leukaemia</td></tr><tr><td style=\"white-space:nowrap\">M85<a name=\"GenomicClinicalIndication-M85\"> </a></td><td>Myeloproliferative Neoplasm</td></tr><tr><td style=\"white-space:nowrap\">M86<a name=\"GenomicClinicalIndication-M86\"> </a></td><td>Systemic Mastocytosis</td></tr><tr><td style=\"white-space:nowrap\">M87<a name=\"GenomicClinicalIndication-M87\"> </a></td><td>Chronic Neutrophilic Leukaemia</td></tr><tr><td style=\"white-space:nowrap\">M88<a name=\"GenomicClinicalIndication-M88\"> </a></td><td>Juvenile Myelomonocytic Leukaemia</td></tr><tr><td style=\"white-space:nowrap\">M89<a name=\"GenomicClinicalIndication-M89\"> </a></td><td>Acute Leukaemia Other</td></tr><tr><td style=\"white-space:nowrap\">M90<a name=\"GenomicClinicalIndication-M90\"> </a></td><td>Blastic Plasmacytoid Dendritic Cell Neoplasm</td></tr><tr><td style=\"white-space:nowrap\">M91<a name=\"GenomicClinicalIndication-M91\"> </a></td><td>Acute Lymphoblastic Leukaemia</td></tr><tr><td style=\"white-space:nowrap\">M92<a name=\"GenomicClinicalIndication-M92\"> </a></td><td>Plasma Cell Dyscrasia</td></tr><tr><td style=\"white-space:nowrap\">M93<a name=\"GenomicClinicalIndication-M93\"> </a></td><td>Lymphoma</td></tr><tr><td style=\"white-space:nowrap\">M94<a name=\"GenomicClinicalIndication-M94\"> </a></td><td>Chronic Lymphocytic Leukaemia</td></tr><tr><td style=\"white-space:nowrap\">M95<a name=\"GenomicClinicalIndication-M95\"> </a></td><td>B cell Non-Hodgkin Lymphoma</td></tr><tr><td style=\"white-space:nowrap\">M96<a name=\"GenomicClinicalIndication-M96\"> </a></td><td>Burkitt Lymphoma</td></tr><tr><td style=\"white-space:nowrap\">M97<a name=\"GenomicClinicalIndication-M97\"> </a></td><td>Burkitt Like Lymphoma with 11q Abnormalities</td></tr><tr><td style=\"white-space:nowrap\">M98<a name=\"GenomicClinicalIndication-M98\"> </a></td><td>Large B Cell Like Lymphoma with IRF4 Rearrangement</td></tr><tr><td style=\"white-space:nowrap\">M99<a name=\"GenomicClinicalIndication-M99\"> </a></td><td>High Grade Lymphoma</td></tr><tr><td style=\"white-space:nowrap\">M100<a name=\"GenomicClinicalIndication-M100\"> </a></td><td>Primary Mediastinal B Cell Lymphoma</td></tr><tr><td style=\"white-space:nowrap\">M101<a name=\"GenomicClinicalIndication-M101\"> </a></td><td>ALK Positive Large B Cell Lymphoma</td></tr><tr><td style=\"white-space:nowrap\">M102<a name=\"GenomicClinicalIndication-M102\"> </a></td><td>Mantle Cell Lymphoma</td></tr><tr><td style=\"white-space:nowrap\">M103<a name=\"GenomicClinicalIndication-M103\"> </a></td><td>Follicular Lymphoma</td></tr><tr><td style=\"white-space:nowrap\">M104<a name=\"GenomicClinicalIndication-M104\"> </a></td><td>Lymphoplasmacytic Lymphoma/Waldenstrom Macroglobulinaemia</td></tr><tr><td style=\"white-space:nowrap\">M105<a name=\"GenomicClinicalIndication-M105\"> </a></td><td>Igm Monoclonal Gammopathy of Uncertain Significance</td></tr><tr><td style=\"white-space:nowrap\">M106<a name=\"GenomicClinicalIndication-M106\"> </a></td><td>Intra-Ocular Lymphoma</td></tr><tr><td style=\"white-space:nowrap\">M107<a name=\"GenomicClinicalIndication-M107\"> </a></td><td>Malt-Lymphoma</td></tr><tr><td style=\"white-space:nowrap\">M108<a name=\"GenomicClinicalIndication-M108\"> </a></td><td>Hairy Cell Leukaemia</td></tr><tr><td style=\"white-space:nowrap\">M109<a name=\"GenomicClinicalIndication-M109\"> </a></td><td>Hairy Cell Leukaemia</td></tr><tr><td style=\"white-space:nowrap\">M110<a name=\"GenomicClinicalIndication-M110\"> </a></td><td>Paediatric Type Follicular Lymphoma</td></tr><tr><td style=\"white-space:nowrap\">M111<a name=\"GenomicClinicalIndication-M111\"> </a></td><td>T Cell Non-Hodgkin Lymphoma</td></tr><tr><td style=\"white-space:nowrap\">M112<a name=\"GenomicClinicalIndication-M112\"> </a></td><td>ALK Negative Anaplastic Large Cell Lymphoma (Including Primary Cutaneous Subtypes)</td></tr><tr><td style=\"white-space:nowrap\">M113<a name=\"GenomicClinicalIndication-M113\"> </a></td><td>T Prolymphocytic Leukaemia</td></tr><tr><td style=\"white-space:nowrap\">M114<a name=\"GenomicClinicalIndication-M114\"> </a></td><td>Large Granular Lymphocyte Leukaemia</td></tr><tr><td style=\"white-space:nowrap\">M115<a name=\"GenomicClinicalIndication-M115\"> </a></td><td>NK Cell/Gamma-Delta T Cell Lymphoma</td></tr><tr><td style=\"white-space:nowrap\">M116<a name=\"GenomicClinicalIndication-M116\"> </a></td><td>Hepatosplenic T Cell Lymphoma</td></tr><tr><td style=\"white-space:nowrap\">M117<a name=\"GenomicClinicalIndication-M117\"> </a></td><td>Histiocytosis</td></tr><tr><td style=\"white-space:nowrap\">M118<a name=\"GenomicClinicalIndication-M118\"> </a></td><td>Any patient undergoing Allogeneic Haematopoietic Stem Cell transplantation</td></tr><tr><td style=\"white-space:nowrap\">M120<a name=\"GenomicClinicalIndication-M120\"> </a></td><td>Atypical Teratoid/Rhabdoid Tumour</td></tr><tr><td style=\"white-space:nowrap\">M126<a name=\"GenomicClinicalIndication-M126\"> </a></td><td>CNS High-Grade Neuroepithelial Tumour with MN1 Alteration</td></tr><tr><td style=\"white-space:nowrap\">M130<a name=\"GenomicClinicalIndication-M130\"> </a></td><td>Cribriform Neuroepithelial Tumour</td></tr><tr><td style=\"white-space:nowrap\">M132<a name=\"GenomicClinicalIndication-M132\"> </a></td><td>Desmoplastic Infantile Gangliogliomas</td></tr><tr><td style=\"white-space:nowrap\">M133<a name=\"GenomicClinicalIndication-M133\"> </a></td><td>Desmoplastic Medulloblastoma</td></tr><tr><td style=\"white-space:nowrap\">M136<a name=\"GenomicClinicalIndication-M136\"> </a></td><td>Fibrolamellar Hepatocellular Carcinoma</td></tr><tr><td style=\"white-space:nowrap\">M137<a name=\"GenomicClinicalIndication-M137\"> </a></td><td>Ganglioglioma</td></tr><tr><td style=\"white-space:nowrap\">M138<a name=\"GenomicClinicalIndication-M138\"> </a></td><td>Glial Tumours</td></tr><tr><td style=\"white-space:nowrap\">M139<a name=\"GenomicClinicalIndication-M139\"> </a></td><td>Glioblastoma</td></tr><tr><td style=\"white-space:nowrap\">M145<a name=\"GenomicClinicalIndication-M145\"> </a></td><td>Medulloblastoma</td></tr><tr><td style=\"white-space:nowrap\">M146<a name=\"GenomicClinicalIndication-M146\"> </a></td><td>Medulloblastoma Group 3</td></tr><tr><td style=\"white-space:nowrap\">M147<a name=\"GenomicClinicalIndication-M147\"> </a></td><td>Medulloblastoma Group 3/4</td></tr><tr><td style=\"white-space:nowrap\">M148<a name=\"GenomicClinicalIndication-M148\"> </a></td><td>Medulloblastoma TP53 WT</td></tr><tr><td style=\"white-space:nowrap\">M150<a name=\"GenomicClinicalIndication-M150\"> </a></td><td>Meningioma</td></tr><tr><td style=\"white-space:nowrap\">M153<a name=\"GenomicClinicalIndication-M153\"> </a></td><td>Nodular Brain Tumour</td></tr><tr><td style=\"white-space:nowrap\">M155<a name=\"GenomicClinicalIndication-M155\"> </a></td><td>Oligoastrocytoma</td></tr><tr><td style=\"white-space:nowrap\">M156<a name=\"GenomicClinicalIndication-M156\"> </a></td><td>Oligodendroglioma</td></tr><tr><td style=\"white-space:nowrap\">M158<a name=\"GenomicClinicalIndication-M158\"> </a></td><td>Pilocytic Astrocytoma</td></tr><tr><td style=\"white-space:nowrap\">M159<a name=\"GenomicClinicalIndication-M159\"> </a></td><td>Pituitary Blastoma</td></tr><tr><td style=\"white-space:nowrap\">M160<a name=\"GenomicClinicalIndication-M160\"> </a></td><td>Pleomorphic Xanthoastrocytoma</td></tr><tr><td style=\"white-space:nowrap\">M162<a name=\"GenomicClinicalIndication-M162\"> </a></td><td>Primitive Neuroectodermal Tumours</td></tr><tr><td style=\"white-space:nowrap\">M168<a name=\"GenomicClinicalIndication-M168\"> </a></td><td>Rosette-Forming Glioneuronal Tumour</td></tr><tr><td style=\"white-space:nowrap\">M169<a name=\"GenomicClinicalIndication-M169\"> </a></td><td>Secondary Glioblastoma</td></tr><tr><td style=\"white-space:nowrap\">M170<a name=\"GenomicClinicalIndication-M170\"> </a></td><td>SHH Medulloblastoma</td></tr><tr><td style=\"white-space:nowrap\">M171<a name=\"GenomicClinicalIndication-M171\"> </a></td><td>SHH Medulloblastoma</td></tr><tr><td style=\"white-space:nowrap\">M172<a name=\"GenomicClinicalIndication-M172\"> </a></td><td>SHH Medulloblastoma</td></tr><tr><td style=\"white-space:nowrap\">M179<a name=\"GenomicClinicalIndication-M179\"> </a></td><td>WNT Medulloblastoma</td></tr><tr><td style=\"white-space:nowrap\">M181<a name=\"GenomicClinicalIndication-M181\"> </a></td><td>Hairy Cell Leukaemia</td></tr><tr><td style=\"white-space:nowrap\">M182<a name=\"GenomicClinicalIndication-M182\"> </a></td><td>ALK Positive Anaplastic Large Cell Lymphoma</td></tr><tr><td style=\"white-space:nowrap\">M183<a name=\"GenomicClinicalIndication-M183\"> </a></td><td>Diffuse Midline Glioma</td></tr><tr><td style=\"white-space:nowrap\">M184<a name=\"GenomicClinicalIndication-M184\"> </a></td><td>Glioma</td></tr><tr><td style=\"white-space:nowrap\">M185<a name=\"GenomicClinicalIndication-M185\"> </a></td><td>High Grade Glioma</td></tr><tr><td style=\"white-space:nowrap\">M186<a name=\"GenomicClinicalIndication-M186\"> </a></td><td>Low Grade Glioma</td></tr><tr><td style=\"white-space:nowrap\">M189<a name=\"GenomicClinicalIndication-M189\"> </a></td><td>Brain Tumour</td></tr><tr><td style=\"white-space:nowrap\">M190<a name=\"GenomicClinicalIndication-M190\"> </a></td><td>Embryonal Tumour Differential</td></tr><tr><td style=\"white-space:nowrap\">M191<a name=\"GenomicClinicalIndication-M191\"> </a></td><td>Low Grade Intrinsic Brain Tumour Differential</td></tr><tr><td style=\"white-space:nowrap\">M192<a name=\"GenomicClinicalIndication-M192\"> </a></td><td>High Grade Intrinsic Brain Tumour Differential</td></tr><tr><td style=\"white-space:nowrap\">M193<a name=\"GenomicClinicalIndication-M193\"> </a></td><td>Unable To Grade Intrinsic Brain Tumour</td></tr><tr><td style=\"white-space:nowrap\">M194<a name=\"GenomicClinicalIndication-M194\"> </a></td><td>Medulloblastoma all Subtypes</td></tr><tr><td style=\"white-space:nowrap\">M195<a name=\"GenomicClinicalIndication-M195\"> </a></td><td>Craniopharyngioma</td></tr><tr><td style=\"white-space:nowrap\">M213<a name=\"GenomicClinicalIndication-M213\"> </a></td><td>Glial and Glioneuronal Tumour Differential</td></tr><tr><td style=\"white-space:nowrap\">M224<a name=\"GenomicClinicalIndication-M224\"> </a></td><td>MDS/MPN</td></tr><tr><td style=\"white-space:nowrap\">M225<a name=\"GenomicClinicalIndication-M225\"> </a></td><td>Suspected Lymphoma</td></tr><tr><td style=\"white-space:nowrap\">M235<a name=\"GenomicClinicalIndication-M235\"> </a></td><td>Proven or Suspected Haematological Tumours Exhausted all Standard of Care Testing and Treatment</td></tr><tr><td style=\"white-space:nowrap\">R94<a name=\"GenomicClinicalIndication-R94\"> </a></td><td>Not present in 8.0</td></tr><tr><td style=\"white-space:nowrap\">R362<a name=\"GenomicClinicalIndication-R362\"> </a></td><td>Not present in 8.0</td></tr></table></div>"
},
"url" : "https://fhir.nwgenomics.nhs.uk/CodeSystem/GenomicClinicalIndication",
"version" : "2.2.0",
"name" : "GenomicClinicalIndication",
"title" : "NHS England Genomic Clinical Indication Code",
"status" : "active",
"experimental" : false,
"date" : "2026-09-08",
"publisher" : "NHS North West Genomics",
"contact" : [
{
"telecom" : [
{
"system" : "url",
"value" : "https://www.nwgenomics.nhs.uk/contact-us"
}
]
}
],
"description" : "1st level Genomic Test Directory Codes - completed from the same master\nspreadsheets as `GenomicTestCode` (`EnglandTestCode.fsh`); see that CodeSystem's\nown Description for the legacy-versus-current distinction, which applies the\nsame way here.",
"jurisdiction" : [
{
"coding" : [
{
"system" : "urn:iso:std:iso:3166",
"code" : "GB",
"display" : "United Kingdom of Great Britain and Northern Ireland"
}
]
}
],
"caseSensitive" : true,
"content" : "fragment",
"concept" : [
{
"code" : "R14",
"display" : "Acutely unwell children with a likely monogenic disorder"
},
{
"code" : "R15",
"display" : "Primary immunodeficiency or monogenic inflammatory bowel disease"
},
{
"code" : "R16",
"display" : "Severe combined immunodeficiency with adenosine deaminase deficiency"
},
{
"code" : "R17",
"display" : "Lymphoproliferative syndrome with absent SAP expression"
},
{
"code" : "R18",
"display" : "Haemophagocytic syndrome with absent XIAP expression"
},
{
"code" : "R19",
"display" : "Autoimmune lymphoproliferative syndrome with defective apoptosis"
},
{
"code" : "R20",
"display" : "Wiskott-Aldrich syndrome"
},
{
"code" : "R21",
"display" : "Fetal anomalies with a likely genetic cause"
},
{
"code" : "R22",
"display" : "Fetus with a likely chromosomal abnormality"
},
{
"code" : "R23",
"display" : "Apert syndrome"
},
{
"code" : "R24",
"display" : "Achondroplasia"
},
{
"code" : "R25",
"display" : "Thanatophoric dysplasia"
},
{
"code" : "R26",
"display" : "Likely common aneuploidy"
},
{
"code" : "R27",
"display" : "Paediatric disorders"
},
{
"code" : "R28",
"display" : "Congenital malformation and dysmorphism syndromes"
},
{
"code" : "R31",
"display" : "Bilateral congenital or childhood onset cataracts"
},
{
"code" : "R32",
"display" : "Retinal disorders"
},
{
"code" : "R33",
"display" : "Possible X-linked retinitis pigmentosa"
},
{
"code" : "R36",
"display" : "Structural eye disease"
},
{
"code" : "R38",
"display" : "Sporadic aniridia"
},
{
"code" : "R39",
"display" : "Albinism or congenital nystagmus"
},
{
"code" : "R41",
"display" : "Optic neuropathy"
},
{
"code" : "R42",
"display" : "Leber hereditary optic neuropathy"
},
{
"code" : "R43",
"display" : "Blepharophimosis ptosis and epicanthus inversus"
},
{
"code" : "R45",
"display" : "Stickler syndrome"
},
{
"code" : "R46",
"display" : "Congenital fibrosis of the extraocular muscles"
},
{
"code" : "R47",
"display" : "Angelman syndrome"
},
{
"code" : "R48",
"display" : "Prader-Willi syndrome"
},
{
"code" : "R49",
"display" : "Beckwith-Wiedemann syndrome"
},
{
"code" : "R50",
"display" : "Isolated hemihypertrophy or macroglossia"
},
{
"code" : "R52",
"display" : "Short stature - SHOX deficiency"
},
{
"code" : "R54",
"display" : "Hereditary ataxia with onset in adulthood"
},
{
"code" : "R55",
"display" : "Hereditary ataxia with onset in childhood"
},
{
"code" : "R56",
"display" : "Adult onset dystonia, chorea or related movement disorder"
},
{
"code" : "R57",
"display" : "Childhood onset dystonia, chorea or related movement disorder"
},
{
"code" : "R60",
"display" : "Adult onset hereditary spastic paraplegia"
},
{
"code" : "R61",
"display" : "Childhood onset hereditary spastic paraplegia"
},
{
"code" : "R62",
"display" : "Adult onset leukodystrophy"
},
{
"code" : "R63",
"display" : "Possible mitochondrial disorder - nuclear genes"
},
{
"code" : "R64",
"display" : "MELAS or MIDD"
},
{
"code" : "R65",
"display" : "Aminoglycoside exposure posing risk to hearing"
},
{
"code" : "R66",
"display" : "Paroxysmal central nervous system disorders"
},
{
"code" : "R67",
"display" : "Monogenic hearing loss"
},
{
"code" : "R68",
"display" : "Huntington disease"
},
{
"code" : "R69",
"display" : "Hypotonic infant"
},
{
"code" : "R70",
"display" : "Spinal muscular atrophy type 1 diagnostic test"
},
{
"code" : "R71",
"display" : "Spinal muscular atrophy type 1 rare variant testing"
},
{
"code" : "R72",
"display" : "Myotonic dystrophy type 1"
},
{
"code" : "R73",
"display" : "Duchenne or Becker muscular dystrophy"
},
{
"code" : "R74",
"display" : "Facioscapulohumeral muscular dystrophy"
},
{
"code" : "R75",
"display" : "Oculopharyngeal muscular dystrophy"
},
{
"code" : "R76",
"display" : "Skeletal muscle channelopathy"
},
{
"code" : "R77",
"display" : "Hereditary neuropathy - PMP22 copy number"
},
{
"code" : "R78",
"display" : "Hereditary neuropathy or pain disorder"
},
{
"code" : "R79",
"display" : "Congenital muscular dystrophy"
},
{
"code" : "R80",
"display" : "Congenital myaesthenic syndrome"
},
{
"code" : "R81",
"display" : "Congenital myopathy"
},
{
"code" : "R82",
"display" : "Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies"
},
{
"code" : "R83",
"display" : "Arthrogryposis"
},
{
"code" : "R84",
"display" : "Cerebellar anomalies"
},
{
"code" : "R85",
"display" : "Holoprosencephaly - NOT chromosomal"
},
{
"code" : "R86",
"display" : "Hydrocephalus"
},
{
"code" : "R87",
"display" : "Cerebral malformation"
},
{
"code" : "R88",
"display" : "Severe microcephaly"
},
{
"code" : "R89",
"display" : "Ultra-rare and atypical monogenic disorders"
},
{
"code" : "R90",
"display" : "Bleeding and platelet disorders"
},
{
"code" : "R91",
"display" : "Cytopenia - NOT Fanconi anaemia"
},
{
"code" : "R92",
"display" : "Rare anaemia"
},
{
"code" : "R93",
"display" : "Sickle cell, thalassaemia and other haemoglobinopathies"
},
{
"code" : "R95",
"display" : "Iron overload - hereditary haemochromatosis testing"
},
{
"code" : "R96",
"display" : "Iron metabolism disorders - NOT common HFE variants"
},
{
"code" : "R97",
"display" : "Thrombophilia with a likely monogenic cause"
},
{
"code" : "R98",
"display" : "Likely inborn error of metabolism"
},
{
"code" : "R99",
"display" : "Common craniosynostosis syndromes"
},
{
"code" : "R100",
"display" : "Rare syndromic craniosynostosis or isolated multisuture synostosis"
},
{
"code" : "R101",
"display" : "Ehlers Danlos syndrome with a likely monogenic cause"
},
{
"code" : "R102",
"display" : "Osteogenesis imperfecta"
},
{
"code" : "R104",
"display" : "Skeletal dysplasia"
},
{
"code" : "R105",
"display" : "MCADD - Medium-chain acyl-CoA dehydrogenase deficiency – common variant newborn screening follow up"
},
{
"code" : "R106",
"display" : "Alstrom syndrome"
},
{
"code" : "R107",
"display" : "Bardet Biedl syndrome"
},
{
"code" : "R109",
"display" : "Childhood onset leukodystrophy"
},
{
"code" : "R110",
"display" : "Segmental overgrowth disorders - Deep sequencing"
},
{
"code" : "R111",
"display" : "X-inactivation testing"
},
{
"code" : "R112",
"display" : "Factor II deficiency"
},
{
"code" : "R115",
"display" : "Factor V deficiency"
},
{
"code" : "R116",
"display" : "Factor VII deficiency"
},
{
"code" : "R117",
"display" : "Factor VIII deficiency"
},
{
"code" : "R118",
"display" : "Factor IX deficiency"
},
{
"code" : "R119",
"display" : "Factor X deficiency"
},
{
"code" : "R120",
"display" : "Factor XI deficiency"
},
{
"code" : "R121",
"display" : "von Willebrand disease"
},
{
"code" : "R122",
"display" : "Factor XIII deficiency"
},
{
"code" : "R123",
"display" : "Combined vitamin K-dependent clotting factor deficiency"
},
{
"code" : "R124",
"display" : "Combined factor V and VIII deficiency"
},
{
"code" : "R125",
"display" : "Thoracic aortic aneurysm or dissection"
},
{
"code" : "R127",
"display" : "Long QT syndrome"
},
{
"code" : "R128",
"display" : "Brugada syndrome and cardiac sodium channel disease"
},
{
"code" : "R129",
"display" : "Catecholaminergic polymorphic VT"
},
{
"code" : "R130",
"display" : "Short QT syndrome"
},
{
"code" : "R131",
"display" : "Hypertrophic cardiomyopathy"
},
{
"code" : "R132",
"display" : "Dilated and Arrhythmogenic cardiomyopathy"
},
{
"code" : "R133",
"display" : "Arrhythmogenic right ventricular cardiomyopathy"
},
{
"code" : "R134",
"display" : "Familial hypercholesterolaemia"
},
{
"code" : "R135",
"display" : "Paediatric or syndromic cardiomyopathy"
},
{
"code" : "R136",
"display" : "Primary lymphoedema"
},
{
"code" : "R137",
"display" : "Congenital heart disease - microarray"
},
{
"code" : "R138",
"display" : "Sudden unexplained death or survivors of a cardiac event"
},
{
"code" : "R139",
"display" : "Laterality disorders and isomerism"
},
{
"code" : "R140",
"display" : "Elastin-related phenotypes"
},
{
"code" : "R141",
"display" : "Monogenic diabetes"
},
{
"code" : "R142",
"display" : "Glucokinase-related fasting hyperglycaemia"
},
{
"code" : "R143",
"display" : "Neonatal diabetes"
},
{
"code" : "R144",
"display" : "Congenital hyperinsulinism"
},
{
"code" : "R145",
"display" : "Congenital hypothyroidism"
},
{
"code" : "R146",
"display" : "Differences in sex development"
},
{
"code" : "R148",
"display" : "Hypogonadotropic hypogonadism"
},
{
"code" : "R149",
"display" : "Severe early-onset obesity"
},
{
"code" : "R150",
"display" : "Congenital adrenal hypoplasia"
},
{
"code" : "R151",
"display" : "Familial hyperparathyroidism or Hypocalciuric hypercalcaemia"
},
{
"code" : "R153",
"display" : "Familial hypoparathyroidism"
},
{
"code" : "R154",
"display" : "Hypophosphataemia or rickets"
},
{
"code" : "R155",
"display" : "Autoimmune Polyendocrine Syndrome"
},
{
"code" : "R156",
"display" : "Carney complex"
},
{
"code" : "R157",
"display" : "IPEX - Immunodysregulation Polyendocrinopathy and Enteropathy, X-Linked"
},
{
"code" : "R158",
"display" : "Severe insulin resistance and lipodystrophy syndromes"
},
{
"code" : "R159",
"display" : "Pituitary hormone deficiency"
},
{
"code" : "R160",
"display" : "Primary pigmented nodular adrenocortical disease"
},
{
"code" : "R162",
"display" : "Familial tumoral calcinosis"
},
{
"code" : "R163",
"display" : "Ectodermal dysplasia"
},
{
"code" : "R164",
"display" : "Epidermolysis bullosa and congenital skin fragility"
},
{
"code" : "R165",
"display" : "Ichthyosis and erythrokeratoderma"
},
{
"code" : "R166",
"display" : "Palmoplantar keratodermas"
},
{
"code" : "R167",
"display" : "Autosomal recessive primary hypertrophic osteoarthropathy"
},
{
"code" : "R168",
"display" : "Non-acute porphyrias"
},
{
"code" : "R169",
"display" : "Acute intermittent porphyria"
},
{
"code" : "R170",
"display" : "Variegate porphyria"
},
{
"code" : "R171",
"display" : "Cholestasis"
},
{
"code" : "R172",
"display" : "Wilson disease"
},
{
"code" : "R173",
"display" : "Polycystic liver disease"
},
{
"code" : "R175",
"display" : "Pancreatitis"
},
{
"code" : "R176",
"display" : "Gilbert syndrome"
},
{
"code" : "R180",
"display" : "Congenital adrenal hyperplasia diagnostic test"
},
{
"code" : "R181",
"display" : "Congenital adrenal hyperplasia carrier testing"
},
{
"code" : "R182",
"display" : "Hyperthyroidism"
},
{
"code" : "R183",
"display" : "Glucocorticoid-remediable aldosteronism (GRA)"
},
{
"code" : "R184",
"display" : "Cystic fibrosis diagnostic test"
},
{
"code" : "R185",
"display" : "Cystic fibrosis carrier testing"
},
{
"code" : "R186",
"display" : "Hereditary haemorrhagic telangiectasia"
},
{
"code" : "R188",
"display" : "Pulmonary arterial hypertension"
},
{
"code" : "R189",
"display" : "Respiratory ciliopathies including non-CF bronchiectasis"
},
{
"code" : "R190",
"display" : "Pneumothorax - familial"
},
{
"code" : "R191",
"display" : "Alpha-1-antitrypsin deficiency"
},
{
"code" : "R193",
"display" : "Cystic renal disease"
},
{
"code" : "R194",
"display" : "Haematuria"
},
{
"code" : "R195",
"display" : "Proteinuric renal disease"
},
{
"code" : "R196",
"display" : "CFHR5 nephropathy"
},
{
"code" : "R197",
"display" : "Membranoproliferative glomerulonephritis including C3 glomerulopathy"
},
{
"code" : "R198",
"display" : "Renal tubulopathies"
},
{
"code" : "R199",
"display" : "Congenital anomalies of the kidney and urinary tract - familial"
},
{
"code" : "R201",
"display" : "Atypical haemolytic uraemic syndrome"
},
{
"code" : "R202",
"display" : "Tubulointerstitial kidney disease"
},
{
"code" : "R204",
"display" : "Hereditary Systemic Amyloidosis"
},
{
"code" : "R207",
"display" : "Inherited ovarian cancer (without breast cancer)"
},
{
"code" : "R208",
"display" : "Inherited breast cancer and ovarian cancer"
},
{
"code" : "R210",
"display" : "Inherited MMR deficiency (Lynch syndrome)"
},
{
"code" : "R211",
"display" : "Inherited polyposis and early onset colorectal cancer - germline testing"
},
{
"code" : "R212",
"display" : "Peutz Jeghers Syndrome"
},
{
"code" : "R213",
"display" : "PTEN Hamartoma Tumor Syndrome"
},
{
"code" : "R214",
"display" : "Nevoid Basal Cell Carcinoma Syndrome or Gorlin syndrome"
},
{
"code" : "R215",
"display" : "Hereditary diffuse gastric cancer"
},
{
"code" : "R216",
"display" : "Li Fraumeni Syndrome"
},
{
"code" : "R217",
"display" : "Endocrine neoplasia"
},
{
"code" : "R218",
"display" : "Multiple endocrine neoplasia type 2"
},
{
"code" : "R219",
"display" : "Retinoblastoma"
},
{
"code" : "R221",
"display" : "Familial tumours of the nervous system"
},
{
"code" : "R222",
"display" : "Neurofibromatosis type 1"
},
{
"code" : "R223",
"display" : "Inherited phaeochromocytoma and paraganglioma excluding NF1"
},
{
"code" : "R224",
"display" : "Inherited renal cancer"
},
{
"code" : "R225",
"display" : "Von Hippel Lindau syndrome"
},
{
"code" : "R226",
"display" : "Inherited parathyroid cancer"
},
{
"code" : "R227",
"display" : "Xeroderma pigmentosum, Trichothiodystrophy or Cockayne syndrome"
},
{
"code" : "R228",
"display" : "Tuberous sclerosis"
},
{
"code" : "R229",
"display" : "Confirmed Fanconi anaemia or Bloom syndrome - variant testing"
},
{
"code" : "R230",
"display" : "Multiple monogenic benign skin tumours"
},
{
"code" : "R231",
"display" : "Neuronal ceroid lipofuscinosis"
},
{
"code" : "R232",
"display" : "Haemophagocytic syndrome with absent perforin expression"
},
{
"code" : "R233",
"display" : "Agammaglobulinaemia with absent BTK expression"
},
{
"code" : "R234",
"display" : "Severe combined immunodeficiency with PNP deficiency"
},
{
"code" : "R235",
"display" : "SCID with features of gamma chain deficiency"
},
{
"code" : "R236",
"display" : "Pigmentary skin disorders"
},
{
"code" : "R237",
"display" : "Cutaneous photosensitivity with a likely genetic cause"
},
{
"code" : "R239",
"display" : "Incontinentia pigmenti"
},
{
"code" : "R240",
"display" : "Diagnostic testing for known variant(s)"
},
{
"code" : "R242",
"display" : "Predictive testing for known familial variant(s)"
},
{
"code" : "R244",
"display" : "Carrier testing for known familial variant(s)"
},
{
"code" : "R246",
"display" : "Carrier testing at population risk for partners of known carriers of nationally agreed autosomal recessive disorders"
},
{
"code" : "R249",
"display" : "NIPD using paternal exclusion testing for very rare conditions where familial variant is known"
},
{
"code" : "R250",
"display" : "NIPD for congenital adrenal hyperplasia - CYP21A2 haplotype testing"
},
{
"code" : "R251",
"display" : "Non-invasive prenatal sexing"
},
{
"code" : "R252",
"display" : "SMA carrier testing at population risk for partners of known carriers"
},
{
"code" : "R253",
"display" : "Cystic fibrosis newborn screening follow-up"
},
{
"code" : "R254",
"display" : "Familial melanoma"
},
{
"code" : "R255",
"display" : "Epidermodysplasia verruciformis"
},
{
"code" : "R256",
"display" : "Nephrocalcinosis or nephrolithiasis"
},
{
"code" : "R257",
"display" : "Unexplained young onset end-stage renal disease"
},
{
"code" : "R258",
"display" : "Cytopenia - Fanconi breakage testing indicated"
},
{
"code" : "R259",
"display" : "Nijmegen breakage syndrome"
},
{
"code" : "R260",
"display" : "Fanconi anaemia or Bloom syndrome - chromosome breakage testing"
},
{
"code" : "R262",
"display" : "Corneal dystrophy"
},
{
"code" : "R263",
"display" : "Confirmation of uniparental disomy"
},
{
"code" : "R264",
"display" : "Identity testing"
},
{
"code" : "R265",
"display" : "Chromosomal mosaicism - karyotype"
},
{
"code" : "R268",
"display" : "Kagami-Ogata syndrome - paternal uniparental disomy 14"
},
{
"code" : "R270",
"display" : "Smith-Lemli-Opitz syndrome"
},
{
"code" : "R271",
"display" : "Neuronal ceroid lipofuscinosis type 2"
},
{
"code" : "R272",
"display" : "Gaucher disease"
},
{
"code" : "R273",
"display" : "Glycogen storage disease V"
},
{
"code" : "R274",
"display" : "Glycogen storage disease"
},
{
"code" : "R275",
"display" : "Glutaric acidaemia I newborn screening follow up"
},
{
"code" : "R276",
"display" : "Lysosomal storage disorder"
},
{
"code" : "R277",
"display" : "Mucopolysaccharidosis type IH/S"
},
{
"code" : "R278",
"display" : "Mucopolysaccharidosis type II"
},
{
"code" : "R279",
"display" : "Isovaleric acidaemia newborn screening follow up"
},
{
"code" : "R280",
"display" : "Krabbe disease – GALC deficiency"
},
{
"code" : "R281",
"display" : "Krabbe disease - Saposin A deficiency"
},
{
"code" : "R282",
"display" : "Niemann-Pick disease type A or B"
},
{
"code" : "R283",
"display" : "Phenylketonuria"
},
{
"code" : "R285",
"display" : "Sandhoff disease"
},
{
"code" : "R286",
"display" : "Tay-Sachs disease"
},
{
"code" : "R287",
"display" : "Mucopolysaccharidosis type IVA"
},
{
"code" : "R288",
"display" : "GM1 Gangliosidosis and Mucopolysaccharidosis Type IVB"
},
{
"code" : "R289",
"display" : "Mucolipidosis II and III Alpha/Beta"
},
{
"code" : "R290",
"display" : "Mucopolysaccharidosis type VI"
},
{
"code" : "R291",
"display" : "Mucopolysaccharidosis type IIIA"
},
{
"code" : "R292",
"display" : "Mucopolysaccharidosis type IIIB"
},
{
"code" : "R293",
"display" : "Albright hereditary osteodystrophy, pseudohypoparathyroidism, pseudopseudohypoparathyroidism, acrodysostosis and osteoma cutis"
},
{
"code" : "R294",
"display" : "Ataxia telangiectasia - DNA repair testing"
},
{
"code" : "R295",
"display" : "Ataxia telangiectasia - variant testing"
},
{
"code" : "R296",
"display" : "RNA analysis of variants"
},
{
"code" : "R298",
"display" : "Possible structural or mosaic chromosomal abnormality - FISH"
},
{
"code" : "R299",
"display" : "Possible mitochondrial disorder - mitochondrial DNA rearrangement testing"
},
{
"code" : "R300",
"display" : "Possible mitochondrial disorder - whole mitochondrial genome sequencing"
},
{
"code" : "R301",
"display" : "Possible mitochondrial disorder - mitochondrial DNA depletion testing"
},
{
"code" : "R304",
"display" : "NIPD for cystic fibrosis - haplotype testing"
},
{
"code" : "R305",
"display" : "NIPD for cystic fibrosis - variant testing"
},
{
"code" : "R306",
"display" : "NIPD for Apert syndrome - variant testing"
},
{
"code" : "R307",
"display" : "NIPD for Crouzon syndrome with acanthosis nigricans - variant testing"
},
{
"code" : "R308",
"display" : "NIPD for FGFR2-related craniosynostosis syndromes - variant testing"
},
{
"code" : "R309",
"display" : "NIPD for FGFR3-related skeletal dysplasias - variant testing"
},
{
"code" : "R310",
"display" : "NIPD for Duchenne and Becker muscular dystrophy - haplotype testing"
},
{
"code" : "R311",
"display" : "NIPD for spinal muscular atrophy - variant testing"
},
{
"code" : "R312",
"display" : "Parental sequencing for lethal autosomal recessive disorders"
},
{
"code" : "R313",
"display" : "Neutropaenia consistent with ELANE variants"
},
{
"code" : "R314",
"display" : "Ambiguous genitalia"
},
{
"code" : "R315",
"display" : "POLG-related disorder"
},
{
"code" : "R316",
"display" : "Pyruvate dehydrogenase (PDH) deficiency"
},
{
"code" : "R317",
"display" : "Mitochondrial liver disease, including transient infantile liver failure"
},
{
"code" : "R318",
"display" : "Recurrent miscarriage with products of conception available for testing"
},
{
"code" : "R319",
"display" : "Calcium-sensing receptor phenotypes"
},
{
"code" : "R320",
"display" : "Invasive prenatal diagnosis requiring fetal sexing"
},
{
"code" : "R321",
"display" : "Maternal cell contamination testing"
},
{
"code" : "R322",
"display" : "Skin fibroblasts to be cultured and stored"
},
{
"code" : "R323",
"display" : "Sitosterolaemia"
},
{
"code" : "R324",
"display" : "Familial Chylomicronaemia Syndrome (FCS)"
},
{
"code" : "R325",
"display" : "Lysosomal acid lipase deficiency"
},
{
"code" : "R326",
"display" : "Vascular skin disorders"
},
{
"code" : "R327",
"display" : "Mosaic skin disorders - deep sequencing"
},
{
"code" : "R328",
"display" : "Progressive cardiac conduction disease"
},
{
"code" : "R329",
"display" : "Familial dysalbuminaemic hyperthyroxinaemia"
},
{
"code" : "R330",
"display" : "Alveolar capillary dysplasia with misalignment of pulmonary veins"
},
{
"code" : "R331",
"display" : "Intestinal failure or congenital diarrhoea"
},
{
"code" : "R332",
"display" : "Rare genetic inflammatory skin disorders"
},
{
"code" : "R333",
"display" : "Central congenital hypoventilation"
},
{
"code" : "R334",
"display" : "Cystinosis"
},
{
"code" : "R335",
"display" : "Fabry disease"
},
{
"code" : "R336",
"display" : "Cerebral vascular malformations"
},
{
"code" : "R337",
"display" : "CADASIL"
},
{
"code" : "R338",
"display" : "Monitoring for G(M)CSF escape variants"
},
{
"code" : "R340",
"display" : "Amelogenesis imperfecta"
},
{
"code" : "R341",
"display" : "Hereditary angioedema types I and II"
},
{
"code" : "R343",
"display" : "Chromosomal mosaicism - microarray"
},
{
"code" : "R344",
"display" : "Primary hyperaldosteronism - KCNJ5"
},
{
"code" : "R345",
"display" : "Facioscapulohumeral muscular dystrophy - extended testing"
},
{
"code" : "R346",
"display" : "DNA to be stored"
},
{
"code" : "R347",
"display" : "Inherited predisposition to acute myeloid leukaemia (AML)"
},
{
"code" : "R350",
"display" : "MERRF syndrome"
},
{
"code" : "R351",
"display" : "NARP syndrome or maternally inherited Leigh syndrome"
},
{
"code" : "R352",
"display" : "Mitochondrial DNA maintenance disorder"
},
{
"code" : "R353",
"display" : "Mitochondrial disorder with complex I deficiency"
},
{
"code" : "R354",
"display" : "Mitochondrial disorder with complex II deficiency"
},
{
"code" : "R355",
"display" : "Mitochondrial disorder with complex III deficiency"
},
{
"code" : "R356",
"display" : "Mitochondrial disorder with complex IV deficiency"
},
{
"code" : "R357",
"display" : "Mitochondrial disorder with complex V deficiency"
},
{
"code" : "R361",
"display" : "Sickle cell, thalassaemia and other haemoglobinopathies trait or carrier testing"
},
{
"code" : "R363",
"display" : "Inherited predisposition to GIST"
},
{
"code" : "R364",
"display" : "DICER1-related cancer predisposition"
},
{
"code" : "R365",
"display" : "Fumarate hydratase-related tumour syndromes"
},
{
"code" : "R366",
"display" : "Inherited susceptibility to acute lymphoblastoid leukaemia (ALL)"
},
{
"code" : "R367",
"display" : "Inherited pancreatic cancer"
},
{
"code" : "R368",
"display" : "Hereditary angioedema type III"
},
{
"code" : "R370",
"display" : "Validation of unaccredited findings"
},
{
"code" : "R371",
"display" : "Malignant hyperthermia"
},
{
"code" : "R372",
"display" : "Newborn screening for sickle cell disease in a transfused baby"
},
{
"code" : "R373",
"display" : "RNA to be stored"
},
{
"code" : "R374",
"display" : "Other sample to be stored"
},
{
"code" : "R375",
"display" : "Family follow-up testing to aid variant interpretation"
},
{
"code" : "R376",
"display" : "Segmental or atypical neurofibromatosis type 1 testing"
},
{
"code" : "R380",
"display" : "Niemann Pick disease type C"
},
{
"code" : "R381",
"display" : "Other rare neuromuscular disorders"
},
{
"code" : "R382",
"display" : "Hypochondroplasia"
},
{
"code" : "R383",
"display" : "Linkage testing for Huntington disease"
},
{
"code" : "R384",
"display" : "Generalised arterial calcification in infancy"
},
{
"code" : "R387",
"display" : "Reanalysis of existing data"
},
{
"code" : "R389",
"display" : "NIPD - pre-pregnancy test work-up"
},
{
"code" : "R390",
"display" : "Multiple exostoses"
},
{
"code" : "R391",
"display" : "Barth syndrome"
},
{
"code" : "R394",
"display" : "Mitochondrial neurogastrointestinal encephalopathy"
},
{
"code" : "R395",
"display" : "Thiamine metabolism dysfunction syndrome 2"
},
{
"code" : "R396",
"display" : "Mitochondrial Complex V deficiency, TMEM70 type"
},
{
"code" : "R397",
"display" : "Maternally inherited cardiomyopathy"
},
{
"code" : "R401",
"display" : "Common aneuploidy testing - prenatal"
},
{
"code" : "R402",
"display" : "Premature ovarian insufficiency"
},
{
"code" : "R403",
"display" : "MCADD - Medium-chain acyl-CoA dehydrogenase deficiency – full ACADM sequencing newborn screening follow up"
},
{
"code" : "R404",
"display" : "Testing of unaffected individuals for inherited cancer predisposition syndromes"
},
{
"code" : "R405",
"display" : "Hereditary Erythrocytosis"
},
{
"code" : "R406",
"display" : "Thrombocythaemia"
},
{
"code" : "R409",
"display" : "Linkage testing for other recognisable Mendelian disorders"
},
{
"code" : "R410",
"display" : "Myotonic dystrophy type 2 (DM2)"
},
{
"code" : "R411",
"display" : "Y chromosome microdeletion"
},
{
"code" : "R412",
"display" : "Fetal anomalies with a likely genetic cause - non urgent"
},
{
"code" : "R413",
"display" : "Autoinflammatory Disorders"
},
{
"code" : "R414",
"display" : "APC associated Polyposis"
},
{
"code" : "R416",
"display" : "Syndromic and non syndromic craniosynostosis involving midline sutures"
},
{
"code" : "R417",
"display" : "Multi Locus Imprinting Disorder (MLID)"
},
{
"code" : "R419",
"display" : "Acute Rhabdomyolysis"
},
{
"code" : "R420",
"display" : "Pseudoxanthoma elasticum"
},
{
"code" : "R421",
"display" : "Pulmonary Fibrosis, Familial"
},
{
"code" : "R422",
"display" : "BAP1 associated tumour predisposition syndrome"
},
{
"code" : "R423",
"display" : "NIPD for Retinoblastoma - haplotype testing"
},
{
"code" : "R424",
"display" : "Subcutaneous panniculitis T-cell lymphoma (SPTCL)"
},
{
"code" : "R426",
"display" : "Pulmonary alveolar microlithiasis"
},
{
"code" : "R428",
"display" : "Patient receiving solid organ transplantation (only in cases where passenger lymphocyte syndrome is suspected)"
},
{
"code" : "R430",
"display" : "Inherited prostate cancer"
},
{
"code" : "R431",
"display" : "Genome-wide DNA Methylation Profiling to Aid Variant Interpretation"
},
{
"code" : "R433",
"display" : "Monogenic diabetes, subtype glucokinase - NIPT"
},
{
"code" : "R436",
"display" : "Hereditary alpha tryptasaemia"
},
{
"code" : "R438",
"display" : "Paediatric pseudo-obstruction syndrome"
},
{
"code" : "R440",
"display" : "Hereditary isolated diabetes insipidus"
},
{
"code" : "R441",
"display" : "Unexplained death in infancy and sudden unexplained death in childhood"
},
{
"code" : "R442",
"display" : "Variant re-interpretation"
},
{
"code" : "R443",
"display" : "Confirmation test"
},
{
"code" : "R444",
"display" : "NICE approved PARP inhibitor treatment"
},
{
"code" : "R445",
"display" : "T21, T18 and T13 aneuploidy testing - NIPT (previous history)"
},
{
"code" : "R446",
"display" : "APOL1 kidney donor testing"
},
{
"code" : "R447",
"display" : "Validation of WGS Diagnostic discovery"
},
{
"code" : "R448",
"display" : "Prenatal testing"
},
{
"code" : "R449",
"display" : "Diagnostic testing for Glutaric acidaemia I"
},
{
"code" : "R450",
"display" : "Diagnostic testing for Isovaleric acidaemia"
},
{
"code" : "R451",
"display" : "Diagnostic testing for MCADD - Medium-chain acyl-CoA dehydrogenase deficiency – full ACADM sequencing"
},
{
"code" : "R452",
"display" : "Silver russell syndrome and Temple Syndrome"
},
{
"code" : "R453",
"display" : "Monogenic short stature"
},
{
"code" : "R454",
"display" : "Mavacamten for treating symptomatic obstructive hypertrophic cardiomyopathy"
},
{
"code" : "R456",
"display" : "Embryonal tumour of possible germline origin"
},
{
"code" : "R457",
"display" : "Sarcoma of possible germline origin"
},
{
"code" : "R458",
"display" : "Young onset or familial dementia"
},
{
"code" : "R459",
"display" : "Young onset or complex Parkinson disease"
},
{
"code" : "R460",
"display" : "Amyotrophic lateral sclerosis"
},
{
"code" : "R461",
"display" : "Cerebral amyloid angiopathy"
},
{
"code" : "R462",
"display" : "Childhood interstitial lung disease"
},
{
"code" : "R463",
"display" : "Cytogenetic characterisation of a genomic abnormality – Karyotype or Targeted Chromosome Analysis"
},
{
"code" : "R464",
"display" : "Recurrent miscarriage where products of conception are not available for testing - parental karyotype"
},
{
"code" : "R465",
"display" : "Familial cytogenetic rearrangement - Karyotype or Targeted Chromosome Analysis"
},
{
"code" : "R466",
"display" : "Unexplained infertility - karyotype"
},
{
"code" : "R467",
"display" : "Gamete donors - karyotype"
},
{
"code" : "R468",
"display" : "Possible sex chromosome aneuploidy or structural rearrangement – Targeted Chromosome Analysis"
},
{
"code" : "R470",
"display" : "T21, T18, and T13 aneuploidy testing - NIPT NHS Fetal Anomaly Screening Programme (FASP)"
},
{
"code" : "R471",
"display" : "Neurodegenerative Disorders, adult onset – Prenatal Exclusion Testing"
},
{
"code" : "M1",
"display" : "Colorectal Carcinoma"
},
{
"code" : "M2",
"display" : "Ovarian Carcinoma"
},
{
"code" : "M3",
"display" : "Breast Cancer"
},
{
"code" : "M4",
"display" : "Non-Small Cell Lung Cancer"
},
{
"code" : "M5",
"display" : "Mesothelioma"
},
{
"code" : "M6",
"display" : "Mucoepidermoid Carcinoma"
},
{
"code" : "M7",
"display" : "Melanoma - Adult"
},
{
"code" : "M8",
"display" : "Gastrointestinal Stromal Tumour"
},
{
"code" : "M9",
"display" : "Thyroid Papillary Carcinoma - Adult"
},
{
"code" : "M10",
"display" : "Thyroid Follicular Carcinoma"
},
{
"code" : "M11",
"display" : "Poorly Differentiated Anaplastic Thyroid Carcinoma"
},
{
"code" : "M12",
"display" : "Thyroid Medullary Carcinoma"
},
{
"code" : "M13",
"display" : "Phaeochromocytoma"
},
{
"code" : "M14",
"display" : "Adrenal Cortical Carcinoma"
},
{
"code" : "M15",
"display" : "Head and Neck Squamous Cell Carcinoma"
},
{
"code" : "M16",
"display" : "Adenoid Cystic Carcinoma"
},
{
"code" : "M17",
"display" : "Secretory Carcinoma (Salivary Gland)"
},
{
"code" : "M18",
"display" : "Renal Cell Carcinoma - Adult"
},
{
"code" : "M42",
"display" : "Alveolar Rhabdomyosarcoma"
},
{
"code" : "M43",
"display" : "Alveolar Soft Part Sarcoma"
},
{
"code" : "M44",
"display" : "Aneurysmal Bone Cyst"
},
{
"code" : "M45",
"display" : "Angiomatoid Fibrous Histiocytoma"
},
{
"code" : "M46",
"display" : "Chondrosarcoma Conventional Central"
},
{
"code" : "M47",
"display" : "Chondroblastoma"
},
{
"code" : "M48",
"display" : "Clear Cell Sarcoma of Soft Tissue"
},
{
"code" : "M49",
"display" : "CNS Ewing Sarcoma Family Tumour With\u00a0CIC\u00a0Alteration"
},
{
"code" : "M50",
"display" : "Dermatofibrosarcoma Protuberans"
},
{
"code" : "M51",
"display" : "Desmoid-Type Fibromatosis"
},
{
"code" : "M52",
"display" : "Desmoplastic Small Round Cell Tumour"
},
{
"code" : "M53",
"display" : "Endometrial Stromal Sarcoma"
},
{
"code" : "M54",
"display" : "Epithelioid Haemangioendothelioma"
},
{
"code" : "M55",
"display" : "Ewing Like Sarcoma/PNET"
},
{
"code" : "M56",
"display" : "Ewing Sarcoma of Bone"
},
{
"code" : "M57",
"display" : "Ewing-Like Soft-Tissue Sarcoma"
},
{
"code" : "M58",
"display" : "Extraskeletal Myxoid Chondrosarcoma"
},
{
"code" : "M59",
"display" : "Fibrous Dysplasia/Myxomas (Mazabraud Syndrome)"
},
{
"code" : "M60",
"display" : "Giant Cell Tumour of Bone"
},
{
"code" : "M61",
"display" : "High-Grade Neuroepithelial Tumour-Bcor Group"
},
{
"code" : "M62",
"display" : "Infantile Fibrosarcoma"
},
{
"code" : "M63",
"display" : "Inflammatory Myofibroblastic Tumour"
},
{
"code" : "M64",
"display" : "Low Grade Fibromyxoid Sarcoma"
},
{
"code" : "M65",
"display" : "Mesenchymal Chondrosarcoma"
},
{
"code" : "M66",
"display" : "Myoepithelial Tumours of Soft Tissue"
},
{
"code" : "M67",
"display" : "Myxoid/Round Cell Liposarcoma"
},
{
"code" : "M68",
"display" : "Myxoinflammatory Fibroblastic Sarcoma"
},
{
"code" : "M69",
"display" : "Nodular Fasciitis"
},
{
"code" : "M70",
"display" : "Osteosarcoma"
},
{
"code" : "M71",
"display" : "Phosphaturic Mesenchymal Tumour"
},
{
"code" : "M72",
"display" : "Primitive Mesenchymal Myxoid Tumour of Infancy"
},
{
"code" : "M73",
"display" : "Pseudomyogenic Haemangioendothelioma"
},
{
"code" : "M74",
"display" : "Radiation Induced Angiosarcoma"
},
{
"code" : "M75",
"display" : "Round Cell Sarcoma Nos"
},
{
"code" : "M76",
"display" : "Sclerosing Epithelioid Fibrosarcoma"
},
{
"code" : "M77",
"display" : "Synovial Sarcoma"
},
{
"code" : "M78",
"display" : "Undifferentiated Round Cell Sarcoma of Infancy"
},
{
"code" : "M79",
"display" : "Well Differentiated/Dedifferentiated Liposarcoma"
},
{
"code" : "M119",
"display" : "Paediatric Tumours"
},
{
"code" : "M124",
"display" : "Clear Cell Kidney Sarcoma - Paediatric"
},
{
"code" : "M127",
"display" : "Congenital Mesoblastic Nephroma - Paediatric"
},
{
"code" : "M131",
"display" : "Cystic Nephroma - Paediatric"
},
{
"code" : "M143",
"display" : "Lung - Paediatric"
},
{
"code" : "M149",
"display" : "Melanotic Tumours - Paediatric"
},
{
"code" : "M151",
"display" : "Midline Carcinoma - Paediatric"
},
{
"code" : "M152",
"display" : "Neuroblastoma - Paediatric"
},
{
"code" : "M157",
"display" : "Thyroid Papillary Carcinoma - Paediatric"
},
{
"code" : "M161",
"display" : "Pleuropulmonary Blastoma - Paediatric"
},
{
"code" : "M165",
"display" : "Renal Tumours - Paediatric"
},
{
"code" : "M166",
"display" : "Retinoblastoma - Paediatric"
},
{
"code" : "M167",
"display" : "Rhabdoid Tumours - Paediatric"
},
{
"code" : "M173",
"display" : "t(6;11) Translocation-Associated Renal Cell Carcinoma - Paediatric"
},
{
"code" : "M174",
"display" : "Testicular - Paediatric"
},
{
"code" : "M178",
"display" : "Wilms Tumours - Paediatric"
},
{
"code" : "M180",
"display" : "Xp11.2 Translocation-Associated Renal Cell Carcinoma - Paediatric"
},
{
"code" : "M187",
"display" : "Uveal melanoma"
},
{
"code" : "M196",
"display" : "Bone Forming Soft Tissue Tumour Differential"
},
{
"code" : "M197",
"display" : "Round Cell Sarcoma of Soft Tissue Differential"
},
{
"code" : "M198",
"display" : "Vascular Soft Tissue Tumour Differential"
},
{
"code" : "M199",
"display" : "Spindle Cell Soft Tissue Tumour Differential"
},
{
"code" : "M200",
"display" : "Myxoid Soft Tissue Tumour Differential"
},
{
"code" : "M201",
"display" : "Adipocytic Soft Tissue Tumour Differential"
},
{
"code" : "M202",
"display" : "Epithelioid Soft Tissue Tumour Differential"
},
{
"code" : "M203",
"display" : "Uterine Sarcomas (Inc Endometrial)"
},
{
"code" : "M204",
"display" : "Undifferentiated tumour"
},
{
"code" : "M205",
"display" : "Cartilage Forming Bone Tumour Differential"
},
{
"code" : "M206",
"display" : "Bone Forming Bone Tumour Differential"
},
{
"code" : "M207",
"display" : "Osteoclast-Rich Bone Tumour Differential"
},
{
"code" : "M208",
"display" : "Round Cell Sarcoma of Bone Differential"
},
{
"code" : "M209",
"display" : "Vascular Tumour of Bone Differential"
},
{
"code" : "M210",
"display" : "Spindle Cell Tumour of Bone Differential"
},
{
"code" : "M211",
"display" : "Fibro-Osseous Tumour of Bone Differential"
},
{
"code" : "M212",
"display" : "Renal Tumour Differential - Paediatric"
},
{
"code" : "M215",
"display" : "Endometrial Cancer"
},
{
"code" : "M217",
"display" : "Urothelial Carcinoma"
},
{
"code" : "M218",
"display" : "Prostate Cancer"
},
{
"code" : "M219",
"display" : "Pancreatic Cancer"
},
{
"code" : "M220",
"display" : "Cholangiocarcinoma"
},
{
"code" : "M221",
"display" : "Spitzoid tumour"
},
{
"code" : "M222",
"display" : "Hepatocellular carcinoma"
},
{
"code" : "M226",
"display" : "Carcinoma of Unknown Primary"
},
{
"code" : "M227",
"display" : "Solid tumour other (i.e. specific histology not listed elsewhere in the test directory)"
},
{
"code" : "M231",
"display" : "Small cell lung cancer"
},
{
"code" : "M232",
"display" : "Solid Tumour Exhausted all Standards of Care Testing and Treatment- Adult"
},
{
"code" : "M233",
"display" : "High Grade Ovarian Carcinoma"
},
{
"code" : "M234",
"display" : "Triple Negative Breast Cancer"
},
{
"code" : "M236",
"display" : "Oesophageal Cancer"
},
{
"code" : "M237",
"display" : "Gastric Cancer"
},
{
"code" : "M238",
"display" : "Small Bowel Cancer"
},
{
"code" : "M239",
"display" : "Thyroid Hurtle Cell Carcinoma"
},
{
"code" : "M240",
"display" : "Non-invasive follicular thyroid neoplasm with papillary like nuclei"
},
{
"code" : "M241",
"display" : "Conjunctival melanoma"
},
{
"code" : "M242",
"display" : "Any patient receiving solid organ transplantation (only in cases where passenger lymphocyte syndrome is suspected)"
},
{
"code" : "M243",
"display" : "Thymic Carcinoma"
},
{
"code" : "M244",
"display" : "In all tumours eligible for NTRK1/2/3 testing"
},
{
"code" : "M245",
"display" : "Ovarian sex cord stromal tumours"
},
{
"code" : "M20",
"display" : "Anaplastic Astrocytoma"
},
{
"code" : "M21",
"display" : "Astrocytoma"
},
{
"code" : "M22",
"display" : "Diffuse Astrocytoma"
},
{
"code" : "M23",
"display" : "Diffuse Midline Glioma"
},
{
"code" : "M24",
"display" : "Embryonal Tumours with Multi-Layered Rosettes"
},
{
"code" : "M25",
"display" : "Ependymoma"
},
{
"code" : "M26",
"display" : "Ependymoma"
},
{
"code" : "M27",
"display" : "Glioblastoma"
},
{
"code" : "M28",
"display" : "Glioma"
},
{
"code" : "M29",
"display" : "High Grade Glioma"
},
{
"code" : "M30",
"display" : "IDH-Wildtype Glioblastoma"
},
{
"code" : "M31",
"display" : "Low Grade Glioma"
},
{
"code" : "M32",
"display" : "Low Grade Glioma/Glioneuronal Tumours"
},
{
"code" : "M33",
"display" : "Meningioma"
},
{
"code" : "M34",
"display" : "Non-Midline Glioma"
},
{
"code" : "M35",
"display" : "OligodendroGlioma"
},
{
"code" : "M36",
"display" : "Pilocytic Astrocytoma"
},
{
"code" : "M37",
"display" : "Pineoblastoma"
},
{
"code" : "M38",
"display" : "Pituitary Tumours"
},
{
"code" : "M39",
"display" : "Rare Primitive Neuroectodermal Tumours Groups 2/3"
},
{
"code" : "M80",
"display" : "Acute Myeloid Leukaemia"
},
{
"code" : "M81",
"display" : "Transient Abnormal Myelopoiesis"
},
{
"code" : "M82",
"display" : "Myelodysplasia"
},
{
"code" : "M83",
"display" : "Aplastic Anaemia"
},
{
"code" : "M84",
"display" : "Chronic Myeloid Leukaemia"
},
{
"code" : "M85",
"display" : "Myeloproliferative Neoplasm"
},
{
"code" : "M86",
"display" : "Systemic Mastocytosis"
},
{
"code" : "M87",
"display" : "Chronic Neutrophilic Leukaemia"
},
{
"code" : "M88",
"display" : "Juvenile Myelomonocytic Leukaemia"
},
{
"code" : "M89",
"display" : "Acute Leukaemia Other"
},
{
"code" : "M90",
"display" : "Blastic Plasmacytoid Dendritic Cell Neoplasm"
},
{
"code" : "M91",
"display" : "Acute Lymphoblastic Leukaemia"
},
{
"code" : "M92",
"display" : "Plasma Cell Dyscrasia"
},
{
"code" : "M93",
"display" : "Lymphoma"
},
{
"code" : "M94",
"display" : "Chronic Lymphocytic Leukaemia"
},
{
"code" : "M95",
"display" : "B cell Non-Hodgkin Lymphoma"
},
{
"code" : "M96",
"display" : "Burkitt Lymphoma"
},
{
"code" : "M97",
"display" : "Burkitt Like Lymphoma with 11q Abnormalities"
},
{
"code" : "M98",
"display" : "Large B Cell Like Lymphoma with IRF4 Rearrangement"
},
{
"code" : "M99",
"display" : "High Grade Lymphoma"
},
{
"code" : "M100",
"display" : "Primary Mediastinal B Cell Lymphoma"
},
{
"code" : "M101",
"display" : "ALK Positive Large B Cell Lymphoma"
},
{
"code" : "M102",
"display" : "Mantle Cell Lymphoma"
},
{
"code" : "M103",
"display" : "Follicular Lymphoma"
},
{
"code" : "M104",
"display" : "Lymphoplasmacytic Lymphoma/Waldenstrom Macroglobulinaemia"
},
{
"code" : "M105",
"display" : "Igm Monoclonal Gammopathy of Uncertain Significance"
},
{
"code" : "M106",
"display" : "Intra-Ocular Lymphoma"
},
{
"code" : "M107",
"display" : "Malt-Lymphoma"
},
{
"code" : "M108",
"display" : "Hairy Cell Leukaemia"
},
{
"code" : "M109",
"display" : "Hairy Cell Leukaemia"
},
{
"code" : "M110",
"display" : "Paediatric Type Follicular Lymphoma"
},
{
"code" : "M111",
"display" : "T Cell Non-Hodgkin Lymphoma"
},
{
"code" : "M112",
"display" : "ALK Negative Anaplastic Large Cell Lymphoma (Including Primary Cutaneous Subtypes)"
},
{
"code" : "M113",
"display" : "T Prolymphocytic Leukaemia"
},
{
"code" : "M114",
"display" : "Large Granular Lymphocyte Leukaemia"
},
{
"code" : "M115",
"display" : "NK Cell/Gamma-Delta T Cell Lymphoma"
},
{
"code" : "M116",
"display" : "Hepatosplenic T Cell Lymphoma"
},
{
"code" : "M117",
"display" : "Histiocytosis"
},
{
"code" : "M118",
"display" : "Any patient undergoing Allogeneic Haematopoietic Stem Cell transplantation"
},
{
"code" : "M120",
"display" : "Atypical Teratoid/Rhabdoid Tumour"
},
{
"code" : "M126",
"display" : "CNS High-Grade Neuroepithelial Tumour with MN1 Alteration"
},
{
"code" : "M130",
"display" : "Cribriform Neuroepithelial Tumour"
},
{
"code" : "M132",
"display" : "Desmoplastic Infantile Gangliogliomas"
},
{
"code" : "M133",
"display" : "Desmoplastic Medulloblastoma"
},
{
"code" : "M136",
"display" : "Fibrolamellar Hepatocellular Carcinoma"
},
{
"code" : "M137",
"display" : "Ganglioglioma"
},
{
"code" : "M138",
"display" : "Glial Tumours"
},
{
"code" : "M139",
"display" : "Glioblastoma"
},
{
"code" : "M145",
"display" : "Medulloblastoma"
},
{
"code" : "M146",
"display" : "Medulloblastoma Group 3"
},
{
"code" : "M147",
"display" : "Medulloblastoma Group 3/4"
},
{
"code" : "M148",
"display" : "Medulloblastoma TP53 WT"
},
{
"code" : "M150",
"display" : "Meningioma"
},
{
"code" : "M153",
"display" : "Nodular Brain Tumour"
},
{
"code" : "M155",
"display" : "Oligoastrocytoma"
},
{
"code" : "M156",
"display" : "Oligodendroglioma"
},
{
"code" : "M158",
"display" : "Pilocytic Astrocytoma"
},
{
"code" : "M159",
"display" : "Pituitary Blastoma"
},
{
"code" : "M160",
"display" : "Pleomorphic Xanthoastrocytoma"
},
{
"code" : "M162",
"display" : "Primitive Neuroectodermal Tumours"
},
{
"code" : "M168",
"display" : "Rosette-Forming Glioneuronal Tumour"
},
{
"code" : "M169",
"display" : "Secondary Glioblastoma"
},
{
"code" : "M170",
"display" : "SHH Medulloblastoma"
},
{
"code" : "M171",
"display" : "SHH Medulloblastoma"
},
{
"code" : "M172",
"display" : "SHH Medulloblastoma"
},
{
"code" : "M179",
"display" : "WNT Medulloblastoma"
},
{
"code" : "M181",
"display" : "Hairy Cell Leukaemia"
},
{
"code" : "M182",
"display" : "ALK Positive Anaplastic Large Cell Lymphoma"
},
{
"code" : "M183",
"display" : "Diffuse Midline Glioma"
},
{
"code" : "M184",
"display" : "Glioma"
},
{
"code" : "M185",
"display" : "High Grade Glioma"
},
{
"code" : "M186",
"display" : "Low Grade Glioma"
},
{
"code" : "M189",
"display" : "Brain Tumour"
},
{
"code" : "M190",
"display" : "Embryonal Tumour Differential"
},
{
"code" : "M191",
"display" : "Low Grade Intrinsic Brain Tumour Differential"
},
{
"code" : "M192",
"display" : "High Grade Intrinsic Brain Tumour Differential"
},
{
"code" : "M193",
"display" : "Unable To Grade Intrinsic Brain Tumour"
},
{
"code" : "M194",
"display" : "Medulloblastoma all Subtypes"
},
{
"code" : "M195",
"display" : "Craniopharyngioma"
},
{
"code" : "M213",
"display" : "Glial and Glioneuronal Tumour Differential"
},
{
"code" : "M224",
"display" : "MDS/MPN"
},
{
"code" : "M225",
"display" : "Suspected Lymphoma"
},
{
"code" : "M235",
"display" : "Proven or Suspected Haematological Tumours Exhausted all Standard of Care Testing and Treatment"
},
{
"code" : "R94",
"display" : "Not present in 8.0"
},
{
"code" : "R362",
"display" : "Not present in 8.0"
}
]
}